Lipodystrophy, familial partial, type 7

Preferred Label : Lipodystrophy, familial partial, type 7;

Symbol : FPLD7;

CISMeF acronym : LCCNS; FPLD7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Partial lipodystrophy, congenital cataracts, with or without neurodegeneration syndrome; LCCNS;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the caveolin 1 gene (CAV1, 601047.0004);

Laboratory abnormalities : Increased total cholesterol; Increased serum triglycerides; Increased vitamin E (alpha-tocopherol) levels;

Prefixed ID : #606721;

Details

Origin ID

606721;

UMLS CUI

C3807567;

Automatic exact mappings (from CISMeF team)
- CAV1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- lipodystrophy with congenital cataracts and neurodegeneration [MeSH concept]
- lipodystrophy with congenital cataracts and neurodegeneration [MeSH Supplementary Concept]
Genes related to phenotype
- Caveolin 1 [OMIM gene]
HPO term(s)
- Absence of subcutaneous fat [HPO term]
- Acanthosis nigricans [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Cataract [HPO term]
- Clonus [HPO term]
- Congenital onset [HPO term]
- Cutis marmorata [HPO term]
- Decreased adipose tissue around neck [HPO term]
- Developmental cataract [HPO term]
- Diarrhea [HPO term]
- Distal sensory impairment [HPO term]
- Dry skin [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Facial wrinkling [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Gait ataxia [HPO term]
- Glucose intolerance [HPO term]
- Hypercholesterolemia [HPO term]
- Hyperreflexia [HPO term]
- Hypertension [HPO term]
- Hypertriglyceridemia [HPO term]
- Impaired glucose tolerance [HPO term]
- Insulin resistance [HPO term]
- Lack of facial subcutaneous fat [HPO term]
- Large fontanelles [HPO term]
- Lipodystrophy [HPO term]
- Loss of subcutaneous adipose tissue in limbs [HPO term]
- Low-set ears [HPO term]
- Lower limb muscle weakness [HPO term]
- Narrow mouth [HPO term]
- Narrow nasal ridge [HPO term]
- Neonatal onset [HPO term]
- Nystagmus [HPO term]
- Orthostatic hypotension [HPO term]
- Pigmentary retinopathy [HPO term]
- Pleural effusion [HPO term]
- Polyuria [HPO term]
- Progeroid facial appearance [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary arteriovenous malformation [HPO term]
- Recurrent pancreatitis [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Short nose [HPO term]
- Small for gestational age [HPO term]
- Sparse hair [HPO term]
- Sparse scalp hair [HPO term]
- Spontaneous pneumothorax [HPO term]
- Sunken cheeks [HPO term]
- Thin skin [HPO term]
- Tinnitus [HPO term]
- Triangular face [HPO term]
- Type I diabetes mellitus [HPO term]
- Vomiting [HPO term]
- Young adult onset [HPO term]
- obsolete Glucose intolerance [HPO term]
ORDO concept(s)
- Congenital generalized lipodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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