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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/606721
http://purl.bioontology.org/ontology/OMIM/606721
|
|---|---|
| Preferred Name | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 |
| Synonyms |
FPLD7
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, WITH OR WITHOUT NEURODEGENERATION SYNDROME
LCCNS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
FPLD7
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, WITH OR WITHOUT NEURODEGENERATION SYNDROME
LCCNS
|
|---|---|
| prefLabel | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
|
| Gene Symbol |
CGL3
BSCL3
LCCNS
CAV1
PPH3
|
| Scope Statement | Onset of lipodystrophy at birth [MISCELLANEOUS]
Caused by mutation in the caveolin 1 gene (CAV1, 601047.0004) [MOLECULAR BASIS]
Variable phenotype and severity [MISCELLANEOUS]
Onset of neurologic disease in early adulthood (in some patients) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 7q31.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 606721
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3807567
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |