Endocrinology and Metabolism conditions, page 2 of 5
20 conditions on this page, alphabetically from Glycerol kinase deficiency to Hypogonadotropic hypogonadism 19 with or without anosmia. Each entry below describes the condition in full.
On this page
Glycerol kinase deficiency
An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21. This page summarizes how glycerol kinase deficiency is classified and the care available at Weyland-Yutani Health System.
Classification
Ontology identifier: DOID:0060363 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- OMIM: 307030
- SNOMED CT: 297256008
Care at Weyland-Yutani Health System
Endocrinology and Metabolism specialists lead care for glycerol kinase deficiency. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
If you or a family member may have glycerol kinase deficiency, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Glycine N-methyltransferase deficiency
A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. This page summarizes how glycine N-methyltransferase deficiency is classified and the care available at Weyland-Yutani Health System.
Also known as
- GNMT deficiency
- hypermethioninemia due to glycine N-methyltransferase deficiency
- hypermethioninemia due to GNMT deficiency
Classification
Ontology identifier: DOID:0111037 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › amino acid metabolic disorder › hypermethioninemia.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E72.1
- OMIM: 606664
Care at Weyland-Yutani Health System
Endocrinology and Metabolism specialists lead care for glycine N-methyltransferase deficiency. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Questions about glycine N-methyltransferase deficiency? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Glycogen storage disease
A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. This page summarizes how glycogen storage disease is classified and the care available at Weyland-Yutani Health System.
Also known as
Classification
Ontology identifier: DOID:2747 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › carbohydrate metabolic disorder › glycogen metabolism disorder.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: E74.0
- ICD-9-CM: 271.0
- MeSH: D006008
- SNOMED CT: 267498002
Care at Weyland-Yutani Health System
Care for glycogen storage disease is coordinated through Endocrinology and Metabolism. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
When to seek care
Questions about glycogen storage disease? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Glycogen storage disease II
In clinical terms, glycogen storage disease II is described as follows: A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features.
Also known as
- acid maltase deficiency
- deficiency of glucoamylase
- deficiency of maltase
- Generalized glycogenosis
- Glycogen storage disease 2
- glycogen storage disease type II
- Glycogen storage disease, type II
- Glycogenosis, type 2
- Lysosomal alpha-1,4-glucosidase deficiency
- Pompe disease
- Pompe's disease
Classification
Ontology identifier: DOID:2752 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E74.02
- MeSH: D006009
- OMIM: 232300
- SNOMED CT: 237967002
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, glycogen storage disease II is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
Questions about glycogen storage disease II? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Glycogen storage disease IXb
In clinical terms, glycogen storage disease IXb is described as follows: A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12.
Also known as
- glycogen storage disease type 9B
- glycogen storage disease type IXb
- glycogenosis due to liver and muscle phosphorylase kinase deficiency
- glycogenosis type 9B
- glycogenosis type IXb
- GSD due to liver and muscle phosphorylase kinase deficiency
- GSD IXb
- GSD type 9B
- GSD type IXb
- GSD9B
Classification
Ontology identifier: DOID:0111041 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › carbohydrate metabolic disorder › glycogen metabolism disorder › glycogen storage disease › glycogen storage disease IX.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E74.0
- MeSH: C563008
- OMIM: 261750
Care at Weyland-Yutani Health System
Treatment of glycogen storage disease IXb begins with an evaluation in Endocrinology and Metabolism. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
When to seek care
Questions about glycogen storage disease IXb? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
GRACILE syndrome
A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. Patients with GRACILE syndrome are cared for through our Endocrinology and Metabolism service line.
Also known as
- Fellman disease
- Finnish lactic acidosis with hepatic hemosiderosis
- Finnish lethal neonatal metabolic syndrome
- FLNMS
- growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
- growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
- growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death
Classification
Ontology identifier: DOID:0111455 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- MeSH: C537934
- OMIM: 603358
- SNOMED CT: 703388005
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, GRACILE syndrome is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
Questions about GRACILE syndrome? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Gynecomastia
A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels. Patients with gynecomastia are cared for through our Endocrinology and Metabolism service line.
Classification
Ontology identifier: DOID:12698 (Human Disease Ontology).
Classification path: disease of anatomical entity › endocrine system disease › gonadal disease › disorder of sexual development.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: N62
- MeSH: D006177
- SNOMED CT: 155963008
Care at Weyland-Yutani Health System
Treatment of gynecomastia begins with an evaluation in Endocrinology and Metabolism. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
When to seek care
Questions about gynecomastia? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Hereditary fructose intolerance syndrome
A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31. Our Endocrinology and Metabolism team evaluates and manages hereditary fructose intolerance syndrome.
Also known as
- Fructosaemia
- Fructose-1,6-bisphosphate aldolase B deficiency
- Fructosemia
Classification
Ontology identifier: DOID:9869 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › carbohydrate metabolic disorder.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E74.12
- ICD-9-CM: 271.2
- MeSH: D005633
- OMIM: 229600
- SNOMED CT: 20290005
Care at Weyland-Yutani Health System
Endocrinology and Metabolism specialists lead care for hereditary fructose intolerance syndrome. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
Related articles
When to seek care
If you or a family member may have hereditary fructose intolerance syndrome, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Hyperargininemia
Overview. An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. Weyland-Yutani Health System offers diagnosis and ongoing care for hyperargininemia.
Also known as
- Arginase deficiency
- argininemia
- deficiency of canavanase
Classification
Ontology identifier: DOID:9278 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › amino acid metabolic disorder › urea cycle disorder.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E72.21
- MeSH: D020162
- OMIM: 207800
- SNOMED CT: 23501004
Care at Weyland-Yutani Health System
Treatment of hyperargininemia begins with an evaluation in Endocrinology and Metabolism. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
Related articles
When to seek care
If you or a family member may have hyperargininemia, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Hyperinsulinemic hypoglycemia
In clinical terms, hyperinsulinemic hypoglycemia is described as follows: A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
Also known as
- Islet cell hyperplasia
- nesidioblastosis
- persistent hyperinsulinemia hypoglycemia of infancy
Classification
Ontology identifier: DOID:13317 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › carbohydrate metabolic disorder › glucose metabolism disease › hypoglycemia.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E16.9
- MeSH: D046768
- OMIM: PS256450
- SNOMED CT: 42681006
Care at Weyland-Yutani Health System
Care for hyperinsulinemic hypoglycemia is coordinated through Endocrinology and Metabolism. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about hyperinsulinemic hypoglycemia? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Hyperphosphatemia
hyperphosphatemia: A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene.
Classification
Ontology identifier: DOID:0050459 (Human Disease Ontology).
Classification path: disease of metabolism › acquired metabolic disease › mineral metabolism disease › phosphorus metabolism disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- MeSH: D054559
- SNOMED CT: 20165001
Care at Weyland-Yutani Health System
Treatment of hyperphosphatemia begins with an evaluation in Endocrinology and Metabolism. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
When to seek care
Questions about hyperphosphatemia? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Hyperphosphatemic familial tumoral calcinosis
hyperphosphatemic familial tumoral calcinosis: A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.
Also known as
- cortical hyperostosis with hyperphosphatemia
- familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
- familial Teutschlaender disease
- HFTC
- hypercalcemic tumoral calcinosis
- hyperostosis with hyperphosphatemia
- hyperphosphatemia hyperostosis
- hyperphosphatemia hyperostosis syndrome
- hyperphosphatemia tumoral calcinosis
- lipocalcinogranulomatosis
- morbus Teutschlaender
- PHPTC
- primary hyperphosphatemic tumoral calcinosis
- tumoral calcinosis with hyperphosphatemia
Classification
Ontology identifier: DOID:0111063 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: M11.2
- OMIM: 211900
Care at Weyland-Yutani Health System
Treatment of hyperphosphatemic familial tumoral calcinosis begins with an evaluation in Endocrinology and Metabolism. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about hyperphosphatemic familial tumoral calcinosis. Bring a list of current medications and any previous test results.
Reference links
Hypervitaminosis A
An overnutrition that is characterized by excess vitamin A, has_symptom hepatomegaly, anorexia, fever, alopecia, and arthralgia, and has_material_basis_in excessive intake of vitaimin A, and/or derangement of vitamin A metabolism. Patients with hypervitaminosis A are cared for through our Endocrinology and Metabolism service line.
Classification
Ontology identifier: DOID:9972 (Human Disease Ontology).
Classification path: disease of metabolism › acquired metabolic disease › nutrition disease › overnutrition.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E67.0
- ICD-9-CM: 278.2
- MeSH: D006986
- SNOMED CT: 64559002
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, hypervitaminosis A is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
If you or a family member may have hypervitaminosis A, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Hypobetalipoproteinemia
Overview. A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats. Weyland-Yutani Health System offers diagnosis and ongoing care for hypobetalipoproteinemia.
Also known as
- Hypo-beta-lipoproteinemia
Classification
Ontology identifier: DOID:1390 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › lipid metabolism disorder › hypolipoproteinemia.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
Care at Weyland-Yutani Health System
Care for hypobetalipoproteinemia is coordinated through Endocrinology and Metabolism. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
When to seek care
Questions about hypobetalipoproteinemia? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Hypoglycemia
A glucose metabolism disease that is characterized by abnormally low levels of blood glucose. This page summarizes how hypoglycemia is classified and the care available at Weyland-Yutani Health System.
Also known as
Classification
Ontology identifier: DOID:9993 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › carbohydrate metabolic disorder › glucose metabolism disease.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: E16.2
- ICD-9-CM: 251.2
- MeSH: D007003
- SNOMED CT: 154691006
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, hypoglycemia is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
Related articles
When to seek care
Seek a medical evaluation if you are concerned about hypoglycemia. Bring a list of current medications and any previous test results.
Reference links
Hypogonadism
In clinical terms, hypogonadism is described as follows: A gonadal disease that is characterized by diminished functional activity of the gonads.
Classification
Ontology identifier: DOID:1924 (Human Disease Ontology).
Classification path: disease of anatomical entity › endocrine system disease › gonadal disease.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- MeSH: D007006
- OMIM: 241100
- SNOMED CT: 48130008
Care at Weyland-Yutani Health System
Endocrinology and Metabolism specialists lead care for hypogonadism. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Questions about hypogonadism? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Hypogonadotropic hypogonadism
hypogonadotropic hypogonadism: A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone.
Also known as
- congenital idiopathic hypogonadotropic hypogonadism
- hypogonadotropism
- isolated congenital gonadotropin deficiency
Classification
Ontology identifier: DOID:0090070 (Human Disease Ontology).
Classification path: disease of anatomical entity › endocrine system disease › gonadal disease › hypogonadism.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: E23.0
- OMIM: PS147950
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, hypogonadotropic hypogonadism is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about hypogonadotropic hypogonadism? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Hypogonadotropic hypogonadism 12 with or without anosmia
Overview. A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. Weyland-Yutani Health System offers diagnosis and ongoing care for hypogonadotropic hypogonadism 12 with or without anosmia.
Also known as
- familial hypogonadotrophic eunuchoidism
- familial idiopathic gonadotrpin deficiency
Classification
Ontology identifier: DOID:0090072 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E23.0
- OMIM: 614841
Care at Weyland-Yutani Health System
Treatment of hypogonadotropic hypogonadism 12 with or without anosmia begins with an evaluation in Endocrinology and Metabolism. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about hypogonadotropic hypogonadism 12 with or without anosmia. Bring a list of current medications and any previous test results.
Reference links
Hypogonadotropic hypogonadism 14 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26. This page summarizes how hypogonadotropic hypogonadism 14 with or without anosmia is classified and the care available at Weyland-Yutani Health System.
Classification
Ontology identifier: DOID:0090087 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E23.0
- OMIM: 614858
Care at Weyland-Yutani Health System
Care for hypogonadotropic hypogonadism 14 with or without anosmia is coordinated through Endocrinology and Metabolism. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
When to seek care
If you or a family member may have hypogonadotropic hypogonadism 14 with or without anosmia, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Hypogonadotropic hypogonadism 19 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes. Our Endocrinology and Metabolism team evaluates and manages hypogonadotropic hypogonadism 19 with or without anosmia.
Classification
Ontology identifier: DOID:0090090 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E23.0
- OMIM: 615269
Care at Weyland-Yutani Health System
Endocrinology and Metabolism specialists lead care for hypogonadotropic hypogonadism 19 with or without anosmia. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about hypogonadotropic hypogonadism 19 with or without anosmia? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links