BDA1D
MCID: BRC105
MIFTS: 20

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 74 29 6
Bda1d 57 12 74
Brachydactyly Type A1d 12
Brachydactyly A1, D 74

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:

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

Summaries for Brachydactyly, Type A1, D

UniProtKB/Swiss-Prot : 74 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.

More information from OMIM: 616849

Related Diseases for Brachydactyly, Type A1, D

Symptoms & Phenotypes for Brachydactyly, Type A1, D

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

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

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

Articles related to Brachydactyly, Type A1, D:

# Title Authors PMID Year
1
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. 8 71
25758993 2015

Variations for Brachydactyly, Type A1, D

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BMPR1B NM_001203.3(BMPR1B): c.640C> A (p.Arg214Ser) single nucleotide variant Pathogenic rs1553941890 4:96051067-96051067 4:95129916-95129916
2 BMPR1B NM_001203.3(BMPR1B): c.447-1G> A single nucleotide variant Pathogenic rs869025613 4:96046133-96046133 4:95124982-95124982
3 BMPR1B NM_001203.3(BMPR1B): c.975A> C (p.Lys325Asn) single nucleotide variant Pathogenic rs869025614 4:96052562-96052562 4:95131411-95131411

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

74
# Symbol AA change Variation ID SNP ID
1 BMPR1B p.Lys325Asn VAR_076406 rs869025614

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 EFO
18 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
42 MedGen
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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