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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/112410
http://purl.bioontology.org/ontology/OMIM/112410
|
|---|---|
| Preferred Name | HYPERTENSION AND BRACHYDACTYLY SYNDROME |
| Synonyms |
HTNB
BRACHYDACTYLY WITH HYPERTENSION
BRACHYDACTYLY, TYPE E, WITH SHORT STATURE AND HYPERTENSION
BILGINTURAN SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HTNB
BRACHYDACTYLY WITH HYPERTENSION
BRACHYDACTYLY, TYPE E, WITH SHORT STATURE AND HYPERTENSION
BILGINTURAN SYNDROME
|
|---|---|
| prefLabel | HYPERTENSION AND BRACHYDACTYLY SYNDROME
|
| Gene Symbol |
HTNB
PDE3A
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| Scope Statement | Severe hypertension develops in childhood [MISCELLANEOUS]
Increasing hypertension with increasing age [MISCELLANEOUS]
Caused by mutation in the cGMP-inhibited phosphodiesterase-3A gene (PDE3A, 123805.0001) [MOLECULAR BASIS]
Death from stroke if untreated [MISCELLANEOUS]
By age 50 years, affected family members have a 50mm Hg increase in mean arterial blood pressure compared to unaffected relatives [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 12p12.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 112410
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1862170
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |