BDA1D
MCID: BRC105
MIFTS: 21

Brachydactyly, Type A1, D (BDA1D)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Brachydactyly, Type A1, D

MalaCards integrated aliases for Brachydactyly, Type A1, D:

Name: Brachydactyly, Type A1, D 57 75 29 6
Bda1d 57 12 75
Brachydactyly Type A1d 12
Brachydactyly A1, D 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 2 unrelated patients


HPO:

32
brachydactyly, type a1, d:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616849
Disease Ontology 12 DOID:0110978
MeSH 44 D059327

Summaries for Brachydactyly, Type A1, D

UniProtKB/Swiss-Prot : 75 Brachydactyly A1, D: A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1D inheritance is autosomal dominant.

MalaCards based summary : Brachydactyly, Type A1, D, is also known as bda1d. An important gene associated with Brachydactyly, Type A1, D is BMPR1B (Bone Morphogenetic Protein Receptor Type 1B). Affiliated tissues include bone, and related phenotypes are delayed speech and language development and clinodactyly of the 5th finger

Disease Ontology : 12 A brachydactyly type A1 that has material basis in heterozygous mutation in the BMPR1B gene on chromosome 4q22.

Description from OMIM: 616849

Related Diseases for Brachydactyly, Type A1, D

Symptoms & Phenotypes for Brachydactyly, Type A1, D

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
short proximal phalanges of thumbs
short distal phalanges of thumbs
short to absent middle phalanges of index fingers
short distal phalanges of index fingers
short middle phalanges of third digits (1 patient)
more
Skin Nails Hair Skin:
reduced distal interphalangeal creases

Skeletal Feet:
short great toes (1 patient)
very long second toes (1 patient)


Clinical features from OMIM:

616849

Human phenotypes related to Brachydactyly, Type A1, D:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 32 HP:0000750
2 clinodactyly of the 5th finger 32 HP:0004209
3 short distal phalanx of the thumb 32 HP:0009650
4 short middle phalanx of the 5th finger 32 HP:0004220
5 poor motor coordination 32 HP:0002275
6 aplasia/hypoplasia of the middle phalanx of the 2nd finger 32 HP:0009568
7 short proximal phalanx of thumb 32 HP:0009638
8 short proximal phalanx of finger 32 HP:0010241
9 short distal phalanx of the 2nd finger 32 HP:0009566

Drugs & Therapeutics for Brachydactyly, Type A1, D

Search Clinical Trials , NIH Clinical Center for Brachydactyly, Type A1, D

Genetic Tests for Brachydactyly, Type A1, D

Genetic tests related to Brachydactyly, Type A1, D:

# Genetic test Affiliating Genes
1 Brachydactyly, Type A1, D 29 BMPR1B

Anatomical Context for Brachydactyly, Type A1, D

MalaCards organs/tissues related to Brachydactyly, Type A1, D:

41
Bone

Publications for Brachydactyly, Type A1, D

Variations for Brachydactyly, Type A1, D

UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly, Type A1, D:

75
# Symbol AA change Variation ID SNP ID
1 BMPR1B p.Lys325Asn VAR_076406 rs869025614

ClinVar genetic disease variations for Brachydactyly, Type A1, D:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR1B NM_001203.2(BMPR1B): c.447-1G> A single nucleotide variant Pathogenic rs869025613 GRCh38 Chromosome 4, 95124982: 95124982
2 BMPR1B NM_001203.2(BMPR1B): c.447-1G> A single nucleotide variant Pathogenic rs869025613 GRCh37 Chromosome 4, 96046133: 96046133
3 BMPR1B NM_001203.2(BMPR1B): c.975A> C (p.Lys325Asn) single nucleotide variant Pathogenic rs869025614 GRCh38 Chromosome 4, 95131411: 95131411
4 BMPR1B NM_001203.2(BMPR1B): c.975A> C (p.Lys325Asn) single nucleotide variant Pathogenic rs869025614 GRCh37 Chromosome 4, 96052562: 96052562
5 BMPR1B NM_001203.2(BMPR1B): c.640C> A (p.Arg214Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 96051067: 96051067
6 BMPR1B NM_001203.2(BMPR1B): c.640C> A (p.Arg214Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 95129916: 95129916

Expression for Brachydactyly, Type A1, D

Search GEO for disease gene expression data for Brachydactyly, Type A1, D.

Pathways for Brachydactyly, Type A1, D

GO Terms for Brachydactyly, Type A1, D

Sources for Brachydactyly, Type A1, D

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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