Brachydactyly, type a1

Preferred Label : Brachydactyly, type a1;

Symbol : BDA1;

CISMeF acronym : BDA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Farabee-type brachydactyly; Short stature with nonspecific skeletal abnormalities 2; SNSK2;

Description : In the classification of the brachydactylies, the analysis by Bell (1951) proved highly useful. The type A brachydactylies of Bell have the shortening confined mainly to the middle phalanges. In the A1 type, the middle phalanges of all the digits are rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. - Genetic Heterogeneity of Brachydactyly Type A1 Another locus for this phenotype, designated BDA1B (607004), has been mapped to chromosome 5. A third form of BDA1, BDA1C (615072), is caused by mutation in the GDF5 gene (601146) on chromosome 20q11.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the Indian hedgehog gene (IHH, 600726.0001);

Prefixed ID : #112500;

Details

Origin ID

112500;

UMLS CUI

C1862151;

Automatic exact mappings (from CISMeF team)
- IHH wt Allele [NCIt concept]
- Indian hedgehog signaling molecule [ORDO Gene]
- Indian hedgehog signaling molecule [HGNC gene]
Currated CISMeF NLP mapping
- Brachydactyly type A1 [ICD-11 More detail]
- Brachydactyly type A1 [MeSH concept]
- Brachydactyly type A1 [ORDO Disease]
- Brachydactyly type A1 (disorder) [SNOMED CT concept]
- Type A1 brachydactyly [HPO term]
- brachydactyly type A1 [DO Concept]
- brachydactyly type A1 [MeSH Supplementary Concept]
DO Cross reference
- brachydactyly type A1 [DO Concept]
Genes related to phenotype
- Indian hedgehog signaling molecule [OMIM gene]
HPO term(s)
- Absent distal interphalangeal creases [HPO term]
- Aplasia/Hypoplasia of the middle phalanges of the hand [HPO term]
- Aplasia/Hypoplasia of the middle phalanges of the toes [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad metacarpal epiphyses [HPO term]
- Broad palm [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Distal symphalangism of hands [HPO term]
- Flattened metatarsal heads [HPO term]
- Heterogeneous [HPO term]
- Proportionate shortening of all digits [HPO term]
- Radial deviation of the 2nd finger [HPO term]
- Radial deviation of the 3rd finger [HPO term]
- Radial deviation of the 4th finger [HPO term]
- Short distal phalanx of finger [HPO term]
- Short metacarpal [HPO term]
- Short palm [HPO term]
- Short proximal phalanx of hallux [HPO term]
- Short proximal phalanx of thumb [HPO term]
- Short stature [HPO term]
- Slender metacarpals [HPO term]
- Thin proximal phalanges with broad epiphyses of the hand [HPO term]
ORDO concept(s)
- Brachydactyly type A1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly type A1 [ORDO Disease]
- Brachydactyly type A1 [MeSH concept]
- Brachydactyly type A1 [ICD-11 More detail]
- Brachydactyly type A1 (disorder) [SNOMED CT concept]
- Type A1 brachydactyly [HPO term]
- brachydactyly type A1 [MeSH Supplementary Concept]
- brachydactyly type A1 [DO Concept]

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