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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614008
http://purl.bioontology.org/ontology/OMIM/614008
|
|---|---|
| Preferred Name | NESTOR-GUILLERMO PROGERIA SYNDROME |
| Synonyms |
PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS
PSCOO
NGPS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS
PSCOO
NGPS
|
|---|---|
| prefLabel | NESTOR-GUILLERMO PROGERIA SYNDROME
|
| Gene Symbol |
BANF1
BAF
NGPS
|
| Scope Statement | Two patients from Spain have been reported (as of January 2012) [MISCELLANEOUS]
In contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities [MISCELLANEOUS]
Caused by mutation in the barrier-to-autointegration factor-1 gene (BANF1, 603811.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 11q13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614008
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3151446
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |