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Generalized congenital lipodystrophy with myopathy
1 OMIM reference -
1 associated gene
25 connected diseases
No signs/symptoms info
Disease Type of connection
Familial isolated dilated cardiomyopathy
Precursor T-cell acute lymphoblastic leukemia
Athyreosis
Benign familial chorea
Brain-lung-thyroid syndrome
Papillary or follicular thyroid carcinoma
Thyroid hypoplasia
Burkitt lymphoma
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Becker muscular dystrophy
Duchenne muscular dystrophy
Giant cell glioblastoma
Gliosarcoma
Huntington disease
Juvenile Huntington disease
Muscular dystrophy, Selcen type
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Spinocerebellar ataxia type 36
Synonym(s):
- GCL4
- Generalized congenital lipodystrophy type 4
Classification (Orphanet):
- Rare cardiac disease
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PTRF Q6NZI2603198
No signs/symptoms info available.