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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/194190
http://purl.bioontology.org/ontology/OMIM/194190
|
|---|---|
| Preferred Name | WOLF-HIRSCHHORN SYNDROME |
| Synonyms |
PRDS
WITTWER SYNDROME
CHROMOSOME 4p16.3 DELETION SYNDROME
PITT-ROGERS-DANKS SYNDROME
WHS
PITT SYNDROME
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PRDS
WITTWER SYNDROME
CHROMOSOME 4p16.3 DELETION SYNDROME
PITT-ROGERS-DANKS SYNDROME
WHS
PITT SYNDROME
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|---|---|
| prefLabel | WOLF-HIRSCHHORN SYNDROME
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| Gene Symbol | WHS
|
| notation | 194190
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| Scope Statement | FISH can be used to detect deletions of 4p16.3, the critical region for the phenotype [MISCELLANEOUS]
Size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions [MISCELLANEOUS]
Sex ratio 2 females to 1 male [MISCELLANEOUS]
Contiguous gene deletion syndrome [MISCELLANEOUS]
Approximately 35% of patients die during the first 2 years of life [MISCELLANEOUS]
Due to hemizygous deletion of 4p16.3 [MOLECULAR BASIS]
The frequency is estimated at 1/20,000 to 1/50,000 births [MISCELLANEOUS]
De novo deletions in 87% of patients (preferentially paternally derived) [MISCELLANEOUS]
13% of cases secondary to familial translocation (often maternally derived) [MISCELLANEOUS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| Moved from |
262350
300421
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| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | 4p16.3
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| tui | T047
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| cui |
C0796117
C0796202
C1956097
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