loading...| Preferred Name |
MCCUNE-ALBRIGHT SYNDROME |
|
| Synonyms |
PFD |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/174800 |
|
| altLabel |
PFD MAS POLYOSTOTIC FIBROUS DYSPLASIA POFD ALBRIGHT SYNDROME |
|
| cui |
C0016065 C0242292 |
|
| Gene Locus |
20q13.2 |
|
| Gene Symbol |
PITA3 AHO PHP1A GNAS POH GPSA PHP1B GNAS1 PHP1C |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036927 http://purl.bioontology.org/ontology/OMIM/MTHU037101 http://purl.bioontology.org/ontology/OMIM/MTHU016150 http://purl.bioontology.org/ontology/OMIM/MTHU016149 http://purl.bioontology.org/ontology/OMIM/MTHU001370 http://purl.bioontology.org/ontology/OMIM/MTHU036868 http://purl.bioontology.org/ontology/OMIM/MTHU001214 http://purl.bioontology.org/ontology/OMIM/MTHU016145 http://purl.bioontology.org/ontology/OMIM/MTHU031332 http://purl.bioontology.org/ontology/OMIM/MTHU002823 http://purl.bioontology.org/ontology/OMIM/MTHU000574 http://purl.bioontology.org/ontology/OMIM/MTHU016146 http://purl.bioontology.org/ontology/OMIM/MTHU016148 http://purl.bioontology.org/ontology/OMIM/MTHU031335 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
260490 |
|
| notation |
174800 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MCCUNE-ALBRIGHT SYNDROME |
|
| 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] |
|
| tui |
T047 T191 |