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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/176670
http://purl.bioontology.org/ontology/OMIM/176670
|
|---|---|
| Preferred Name | HUTCHINSON-GILFORD PROGERIA SYNDROME |
| Synonyms |
PROGERIA SYNDROME, CHILDHOOD-ONSET
HGPS
PROGERIA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PROGERIA SYNDROME, CHILDHOOD-ONSET
HGPS
PROGERIA
|
|---|---|
| prefLabel | HUTCHINSON-GILFORD PROGERIA SYNDROME
|
| Gene Symbol |
HGPS
EMD2
LMNA
LMN1
CMD1A
FPLD2
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| notation | 176670
|
| Scope Statement | Some patients have an atypical phenotype with a later age at diagnosis and more protracted disease course [MISCELLANEOUS]
Caused by mutation in the lamin A/C gene (LMNA, 150330.0022) [MOLECULAR BASIS]
Premature aging [MISCELLANEOUS]
Median life expectancy 13 years (in most patients) [MISCELLANEOUS]
Majority of classic cases have a single de novo mutation (GLY608GLY, 150330.0022) [MISCELLANEOUS]
Paternal age effect [MISCELLANEOUS]
Somatic mosaicism and apparent germline mosaicism have been reported [MISCELLANEOUS]
Median age of clinical diagnosis 19 months (in most patients) [MISCELLANEOUS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | 1q21.2
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| tui | T047
|
| cui |
C0033300
C2750285
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