Genetic Medicine conditions, page 5 of 5
8 conditions on this page, alphabetically from Wolfram syndrome 2 to ZTTK syndrome. Each entry below describes the condition in full.
On this page
Wolfram syndrome 2
Overview. An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24. Weyland-Yutani Health System offers diagnosis and ongoing care for Wolfram syndrome 2.
Also known as
Classification
Ontology identifier: DOID:0110630 (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: E13.8
- MeSH: C565733
- OMIM: 604928
Care at Weyland-Yutani Health System
Treatment of Wolfram syndrome 2 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
Questions about Wolfram syndrome 2? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Xeroderma pigmentosum
A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. This page summarizes how xeroderma pigmentosum is classified and the care available at Weyland-Yutani Health System.
Classification
Ontology identifier: DOID:0050427 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: Q82.1
- MeSH: D014983
- SNOMED CT: 44600005
Care at Weyland-Yutani Health System
Care for xeroderma pigmentosum 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
If you or a family member may have xeroderma pigmentosum, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Xeroderma pigmentosum group C
In clinical terms, xeroderma pigmentosum group C is described as follows: A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25.
Also known as
- xeroderma pigmentosum III
- XP group C
- XP3
- XPC
- XPCC
Classification
Ontology identifier: DOID:0110844 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › xeroderma pigmentosum.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q82.1
- OMIM: 278720
Care at Weyland-Yutani Health System
Care for xeroderma pigmentosum group C 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 xeroderma pigmentosum group C. Bring a list of current medications and any previous test results.
Reference links
Xeroderma pigmentosum group D
xeroderma pigmentosum group D: A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.
Also known as
- xeroderma pigmentosum IV
- xeroderma pigmentosum VIII
- XP group D
- XP group H
- XP4
- XP8
- XPD
- XPDC
- XPH
Classification
Ontology identifier: DOID:0110845 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › xeroderma pigmentosum.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q82.1
- OMIM: 278730
Care at Weyland-Yutani Health System
Care for xeroderma pigmentosum group D 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 xeroderma pigmentosum group D? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Xeroderma pigmentosum group E
A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11. This page summarizes how xeroderma pigmentosum group E is classified and the care available at Weyland-Yutani Health System.
Also known as
- xeroderma pigmentosum V
- XP group E
- XP5
- XPE
Classification
Ontology identifier: DOID:0110846 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › xeroderma pigmentosum.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q82.1
- OMIM: 278740
Care at Weyland-Yutani Health System
Treatment of xeroderma pigmentosum group E 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
Questions about xeroderma pigmentosum group E? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Xeroderma pigmentosum group F
In clinical terms, xeroderma pigmentosum group F is described as follows: A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.
Also known as
- xeroderma pigmentosum VI
- XP group F
- XP6
- XPF
Classification
Ontology identifier: DOID:0110848 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › xeroderma pigmentosum.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q82.1
- OMIM: 278760
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for xeroderma pigmentosum group F. 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 xeroderma pigmentosum group F. Bring a list of current medications and any previous test results.
Reference links
Xeroderma pigmentosum group G
A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33. Our Genetic Medicine team evaluates and manages xeroderma pigmentosum group G.
Also known as
- xeroderma pigmentosum VII
- XP group G
- XP7
- XPG
Classification
Ontology identifier: DOID:0110849 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › xeroderma pigmentosum.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q82.1
- OMIM: 278780
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for xeroderma pigmentosum group G. 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 xeroderma pigmentosum group G. Bring a list of current medications and any previous test results.
Reference links
ZTTK syndrome
A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. This page summarizes how ZTTK syndrome is classified and the care available at Weyland-Yutani Health System.
Also known as
- Zhu-Tokita-Takenouchi-Kim syndrome
- ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME
Classification
Ontology identifier: DOID:0060953 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- OMIM: 617140
- SNOMED CT: 1169355000
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for ZTTK 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 ZTTK syndrome. Bring a list of current medications and any previous test results.
Reference links