Lipodystrophy, congenital generalized, type 4

Preferred Label : Lipodystrophy, congenital generalized, type 4;

Symbol : CGL4;

CISMeF acronym : CGL4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy; Lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy;

Description : Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (608594) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009). For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RNA polymerase I and transcript release factor gene (PTRF, 603198.0001);

Laboratory abnormalities : Increased serum creatine kinase; Increased serum triglycerides; Abnormal liver enzymes;

Prefixed ID : #613327;

Details

Origin ID

613327;

UMLS CUI

C2750069;

Automatic exact mappings (from CISMeF team)
- caveolae associated protein 1 [ORDO Gene]
- caveolae associated protein 1 [HGNC gene]
Currated CISMeF NLP mapping
- Generalised congenital lipodystrophy with myopathy [ICD-11 More detail]
- Generalized congenital lipodystrophy with myopathy [ORDO Disease]
- Generalized congenital lipodystrophy with myopathy (disorder) [SNOMED CT concept]
- congenital generalized lipodystrophy type 4 [DO Concept]
- lipodystrophy, congenital generalized, type 4 [MeSH concept]
- lipodystrophy, congenital generalized, type 4 [MeSH Supplementary Concept]
DO Cross reference
- congenital generalized lipodystrophy type 4 [DO Concept]
Genes related to phenotype
- Caveolae-associated protein 1 [OMIM gene]
HPO term(s)
- Acanthosis nigricans [HPO term]
- Atrial fibrillation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradycardia [HPO term]
- Constipation [HPO term]
- Decreased circulating IgA level [HPO term]
- Dysphagia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Elevated liver enzymes [HPO term]
- Exercise intolerance [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Generalized muscle weakness [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hirsutism [HPO term]
- Hyperinsulinemia [HPO term]
- Hyperlordosis [HPO term]
- Hypertriglyceridemia [HPO term]
- Ileus [HPO term]
- Infantile onset [HPO term]
- Insulin resistance [HPO term]
- Lipodystrophy [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscle mounding [HPO term]
- Muscle stiffness [HPO term]
- Muscular dystrophy [HPO term]
- Myalgia [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Prolonged QT interval [HPO term]
- Prominent umbilicus [HPO term]
- Proximal muscle weakness [HPO term]
- Pyloric stenosis [HPO term]
- Recurrent infections [HPO term]
- Scoliosis [HPO term]
- Skeletal muscle hypertrophy [HPO term]
- Spinal rigidity [HPO term]
- Splenomegaly [HPO term]
- Tachycardia [HPO term]
- Vascular dilatation [HPO term]
ORDO concept(s)
- Congenital generalized lipodystrophy [ORDO Disease]
- Generalized congenital lipodystrophy with myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Generalized congenital lipodystrophy with myopathy (disorder) [SNOMED CT concept]
- lipodystrophy, congenital generalized, type 4 [MeSH Supplementary Concept]
- lipodystrophy, congenital generalized, type 4 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients