Genetic Medicine conditions, page 3 of 5
20 conditions on this page, alphabetically from Lynch syndrome to Primary ciliary dyskinesia 3. Each entry below describes the condition in full.
On this page
Lynch syndrome
A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. Our Genetic Medicine team evaluates and manages Lynch syndrome.
Also known as
- Hereditary Defective Mismatch Repair syndrome
- Hereditary non-polyposis colon cancer
- Hereditary non-polyposis colon cancer syndrome
- Hereditary non-polyposis colorectal cancer
- Hereditary non-polyposis colorectal cancer syndrome
- Hereditary nonpolyposis colon cancer
- Hereditary nonpolyposis colon cancer syndrome
- hereditary nonpolyposis colorectal cancer
- Hereditary nonpolyposis colorectal cancer syndrome
- hereditary nonpolyposis colorectal neoplasm
- HNPCC
Classification
Ontology identifier: DOID:3883 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: D003123
- OMIM: PS120435
- SNOMED CT: 315058005
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for Lynch syndrome. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about Lynch syndrome. Bring a list of current medications and any previous test results.
Reference links
Martsolf syndrome
A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. This page summarizes how Martsolf syndrome is classified and the care available at Weyland-Yutani Health System.
Also known as
- cataract-intellectual disability-hypogonadism syndrome
Classification
Ontology identifier: DOID:0111586 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C536028
- OMIM: 212720
- SNOMED CT: 722380003
Care at Weyland-Yutani Health System
Care for Martsolf syndrome is coordinated through Genetic Medicine. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
When to seek care
Questions about Martsolf syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Meckel syndrome
A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. This page summarizes how Meckel syndrome is classified and the care available at Weyland-Yutani Health System.
Also known as
Classification
Ontology identifier: DOID:0050778 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › ciliopathy.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q61.9
- ICD-9-CM: 753.1
- OMIM: PS249000
- SNOMED CT: 29076005
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for Meckel syndrome. 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 Meckel syndrome, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Microphthalmia with limb anomalies
A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. This page summarizes how microphthalmia with limb anomalies is classified and the care available at Weyland-Yutani Health System.
Also known as
- anophthalmia-syndactyly syndrome
- MLA
- OAS
- ophthalmoacromelic syndrome
- Waardenburg anophthalmia syndrome
Classification
Ontology identifier: DOID:0060861 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q87.2
- OMIM: 206920
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, microphthalmia with limb anomalies is managed by Genetic Medicine with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
Related articles
When to seek care
If you or a family member may have microphthalmia with limb anomalies, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Muggenthaler-Chowdhury-Chioza syndrome
Overview. A syndrome characterized by craniofacial dysmorphism, most consistently hypertelorism and a broad flat nose, myopia, and variable additional features including congenital cardiac anomalies, orofacial clefting, and hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the HYAL2 gene on chromosome 3p21. Weyland-Yutani Health System offers diagnosis and ongoing care for Muggenthaler-Chowdhury-Chioza syndrome.
Also known as
Classification
Ontology identifier: DOID:0070805 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q87.8
- OMIM: 621063
- SNOMED CT: 1187039001
Care at Weyland-Yutani Health System
Treatment of Muggenthaler-Chowdhury-Chioza syndrome begins with an evaluation in Genetic Medicine. 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 Muggenthaler-Chowdhury-Chioza syndrome, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Multicentric carpotarsal osteolysis syndrome
A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. Patients with multicentric carpotarsal osteolysis syndrome are cared for through our Genetic Medicine service line.
Also known as
- autosomal dominant multicentric osteolysis
- hereditary osteolysis of carpal bones with or without nephropathy
- idiopathic multicentric osteolysis with or without nephropathy
- MCTO
- multicentric carpo-tarsal osteolysis with or without nephropathy
- multicentric osteolysis nephropathy
Classification
Ontology identifier: DOID:0111534 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C567171
- OMIM: 166300
- SNOMED CT: 766992008
Care at Weyland-Yutani Health System
Care for multicentric carpotarsal osteolysis syndrome is coordinated through Genetic Medicine. 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 multicentric carpotarsal osteolysis syndrome, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Multiple endocrine neoplasia type 2A
multiple endocrine neoplasia type 2A: A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
Also known as
- MEN2A
- multiple endocrine neoplasia II
- Sipple syndrome
Classification
Ontology identifier: DOID:0050430 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: E31.22
- ICD-9-CM: 258.02
- MeSH: D018813
- OMIM: 171400
- SNOMED CT: 721188000
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, multiple endocrine neoplasia type 2A is managed by Genetic Medicine with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about multiple endocrine neoplasia type 2A? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Noonan syndrome
A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. Our Genetic Medicine team evaluates and manages Noonan syndrome.
Also known as
- Turner's phenotype, karyotype normal
Classification
Ontology identifier: DOID:3490 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease.
Specialty: Genetic Medicine
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: Q87.19
- MeSH: D009634
- OMIM: PS163950
- SNOMED CT: 88327006
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, Noonan syndrome is managed by Genetic Medicine 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 Noonan syndrome, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Noonan syndrome 10
In clinical terms, Noonan syndrome 10 is described as follows: A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11.
Also known as
Classification
Ontology identifier: DOID:0060588 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q87.1
- OMIM: 616564
Care at Weyland-Yutani Health System
Treatment of Noonan syndrome 10 begins with an evaluation in Genetic Medicine. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
When to seek care
If you or a family member may have Noonan syndrome 10, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Noonan syndrome 2
Overview. A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11. Weyland-Yutani Health System offers diagnosis and ongoing care for Noonan syndrome 2.
Also known as
Classification
Ontology identifier: DOID:0060580 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q87.1
- MeSH: C548081
- OMIM: 605275
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, Noonan syndrome 2 is managed by Genetic Medicine with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
Questions about Noonan syndrome 2? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Noonan syndrome 6
A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13. Our Genetic Medicine team evaluates and manages Noonan syndrome 6.
Also known as
Classification
Ontology identifier: DOID:0060584 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q87.1
- MeSH: C548084
- OMIM: 613224
Care at Weyland-Yutani Health System
Care for Noonan syndrome 6 is coordinated through Genetic Medicine. 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 Noonan syndrome 6? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Orofaciodigital syndrome IX
An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. Patients with orofaciodigital syndrome IX are cared for through our Genetic Medicine service line.
Also known as
- OFD9
- orofaciodigital syndrome with retinal abnormalities
Classification
Ontology identifier: DOID:0060382 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C557818
- OMIM: 258865
- SNOMED CT: 718680001
Care at Weyland-Yutani Health System
Treatment of orofaciodigital syndrome IX begins with an evaluation in Genetic Medicine. 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 orofaciodigital syndrome IX, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Orofaciodigital syndrome V
In clinical terms, orofaciodigital syndrome V is described as follows: an orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32.
Also known as
- OFD5
- orofaciodigital syndrome Thurston type
- polydactyly, postaxial, with median cleft of upper lip
Classification
Ontology identifier: DOID:0060375 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C557819
- OMIM: 174300
- SNOMED CT: 722105002
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, orofaciodigital syndrome V is managed by Genetic Medicine with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
Related articles
When to seek care
If you or a family member may have orofaciodigital syndrome V, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Popliteal pterygium syndrome
A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1. This page summarizes how popliteal pterygium syndrome is classified and the care available at Weyland-Yutani Health System.
Also known as
- facio-genito-popliteal syndrome
- popliteal web syndrome
Classification
Ontology identifier: DOID:0060055 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- OMIM: 119500
- OMIM: 263650
- SNOMED CT: 205820002
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for popliteal pterygium syndrome. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
Related articles
When to seek care
Seek a medical evaluation if you are concerned about popliteal pterygium syndrome. Bring a list of current medications and any previous test results.
Reference links
Prader-Willi syndrome
A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. This page summarizes how Prader-Willi syndrome is classified and the care available at Weyland-Yutani Health System.
Also known as
Classification
Ontology identifier: DOID:11983 (Human Disease Ontology).
Classification path: genetic disease › chromosomal disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q87.11
- ICD-9-CM: 759.81
- MeSH: D011218
- OMIM: 176270
- SNOMED CT: 205794007
Care at Weyland-Yutani Health System
Care for Prader-Willi syndrome is coordinated through Genetic Medicine. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
Related articles
When to seek care
Seek a medical evaluation if you are concerned about Prader-Willi syndrome. Bring a list of current medications and any previous test results.
Reference links
Primary ciliary dyskinesia 17
In clinical terms, primary ciliary dyskinesia 17 is described as follows: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21.
Also known as
- CILD17
- primary ciliary dyskinesia 17 with or without situs inversus
Classification
Ontology identifier: DOID:0110621 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › ciliopathy › primary ciliary dyskinesia.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q34.8
- OMIM: 614679
Care at Weyland-Yutani Health System
Treatment of primary ciliary dyskinesia 17 begins with an evaluation in Genetic Medicine. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
Related articles
When to seek care
Seek a medical evaluation if you are concerned about primary ciliary dyskinesia 17. Bring a list of current medications and any previous test results.
Reference links
Primary ciliary dyskinesia 24
primary ciliary dyskinesia 24: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22.
Also known as
- CILD24
- primary ciliary dyskinesia 24 without situs inversus
Classification
Ontology identifier: DOID:0110628 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › ciliopathy › primary ciliary dyskinesia.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q34.8
- OMIM: 615481
Care at Weyland-Yutani Health System
Treatment of primary ciliary dyskinesia 24 begins with an evaluation in Genetic Medicine. 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 primary ciliary dyskinesia 24, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Primary ciliary dyskinesia 26
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22. Our Genetic Medicine team evaluates and manages primary ciliary dyskinesia 26.
Also known as
- CILD26
- primary ciliary dyskinesia 26 with or without situs inversus
Classification
Ontology identifier: DOID:0110627 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › ciliopathy › primary ciliary dyskinesia.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q34.8
- OMIM: 615500
Care at Weyland-Yutani Health System
Treatment of primary ciliary dyskinesia 26 begins with an evaluation in Genetic Medicine. 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 primary ciliary dyskinesia 26, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Primary ciliary dyskinesia 29
primary ciliary dyskinesia 29: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15.
Also known as
- CILD29
- primary ciliary dyskinesia 29 without situs inversus
Classification
Ontology identifier: DOID:0110600 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › ciliopathy › primary ciliary dyskinesia.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q34.8
- OMIM: 615872
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for primary ciliary dyskinesia 29. 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 primary ciliary dyskinesia 29, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Primary ciliary dyskinesia 3
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. This page summarizes how primary ciliary dyskinesia 3 is classified and the care available at Weyland-Yutani Health System.
Also known as
- CILD3
- primary ciliary dyskinesia 3 with or without situs inversus
Classification
Ontology identifier: DOID:0110599 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › ciliopathy › primary ciliary dyskinesia.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q34.8
- OMIM: 608644
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for primary ciliary dyskinesia 3. 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 primary ciliary dyskinesia 3, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links