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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/174800
http://purl.bioontology.org/ontology/OMIM/174800
|
|---|---|
| Preferred Name | MCCUNE-ALBRIGHT SYNDROME |
| Synonyms |
PFD
MAS
POLYOSTOTIC FIBROUS DYSPLASIA
POFD
ALBRIGHT SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PFD
MAS
POLYOSTOTIC FIBROUS DYSPLASIA
POFD
ALBRIGHT SYNDROME
|
|---|---|
| prefLabel | MCCUNE-ALBRIGHT SYNDROME
|
| Gene Symbol |
PITA3
AHO
PHP1A
GNAS
POH
GPSA
PHP1B
GNAS1
PHP1C
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|
| notation | 174800
|
| Scope Statement | Caused by somatic mutation in the guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1 gene (GNAS1, 139320.0008) [MOLECULAR BASIS]
Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| Moved from | 260490
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 20q13.2
|
| tui |
T047
T191
|
| cui |
C0016065
C0242292
|
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