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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614962
http://purl.bioontology.org/ontology/OMIM/614962
|
|---|---|
| Preferred Name | LEPTIN DEFICIENCY OR DYSFUNCTION |
| Synonyms |
OBESITY, MORBID
LEPD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
OBESITY, MORBID
LEPD
|
|---|---|
| prefLabel | LEPTIN DEFICIENCY OR DYSFUNCTION
|
| Gene Symbol |
LEP
LEPD
OB
|
| Scope Statement | Patients do not exhibit risk factors for cardiovascular disease such as hypertension, lipid dysregulation, or hyperglycemia [MISCELLANEOUS]
Caused by mutation in the leptin gene (LEP, 164160.0001) [MOLECULAR BASIS]
Hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin [MISCELLANEOUS]
Some patients have a secreted but biologically inactive mutant leptin [MISCELLANEOUS]
Immune and endocrine function may improve in some adult patients [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 7q31.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614962
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3554224
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |