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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/264700
http://purl.bioontology.org/ontology/OMIM/264700
|
|---|---|
| Preferred Name | VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A |
| Synonyms |
PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IA
PDDR1A
VITAMIN D DEPENDENCY, TYPE 1
VITAMIN D-DEPENDENT RICKETS, TYPE 1A
1-ALPHA, 25-HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE
1-ALPHA-HYDROXYLASE DEFICIENCY
VDD1
VDDR1A
PDDR IA
25-HYDROXYCHOLECALCIFEROL-1-HYDROXYLASE DEFICIENCY
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IA
PDDR1A
VITAMIN D DEPENDENCY, TYPE 1
VITAMIN D-DEPENDENT RICKETS, TYPE 1A
1-ALPHA, 25-HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE
1-ALPHA-HYDROXYLASE DEFICIENCY
VDD1
VDDR1A
PDDR IA
25-HYDROXYCHOLECALCIFEROL-1-HYDROXYLASE DEFICIENCY
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|
|---|---|
| prefLabel | VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
|
| Gene Symbol |
PDDR
CYP27B1
VDD1
|
| Scope Statement | Increased frequency among French-Canadians from the Charlevoix-Saguenay-Lac Saint Jean area of Quebec (carrier rate 1 in 26) [MISCELLANEOUS]
Caused by mutations in the 25-hydroxyvitamin D3-1-alpha-hydroxylase gene (CYP27B1, 609506.0001). [MOLECULAR BASIS]
Clinical onset within first 2 years of life [MISCELLANEOUS]
Can be treated with physiologic levels of 1,25-dihydroxyvitamin D3 or 1-alpha-hydroxyvitamin D3 [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
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| Gene Locus | 12q13.1-q13.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 264700
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0268689
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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 |