BDA1C
MCID: BRC075
MIFTS: 22

Brachydactyly, Type A1, C (BDA1C)

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

Aliases & Classifications for Brachydactyly, Type A1, C

MalaCards integrated aliases for Brachydactyly, Type A1, C:

Name: Brachydactyly, Type A1, C 57 29 13 6 40 73
Bda1c 57 12 75
Brachydactyly Type A1 C 75
Brachydactyly Type A1c 12
Brachydactyly A1, C 75
Brachydactyly A1c 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant (milder phenotype)

Miscellaneous:
heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern


HPO:

32
brachydactyly, type a1, c:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615072
Disease Ontology 12 DOID:0110977
MeSH 44 D059327
UMLS 73 C3554446

Summaries for Brachydactyly, Type A1, C

UniProtKB/Swiss-Prot : 75 Brachydactyly A1, C: 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. BDA1C inheritance can be autosomal dominant or autosomal recessive. Autosomal dominant BDA1C has a milder phenotype.

MalaCards based summary : Brachydactyly, Type A1, C, is also known as bda1c. An important gene associated with Brachydactyly, Type A1, C is GDF5 (Growth Differentiation Factor 5). Affiliated tissues include bone, and related phenotypes are short stature and brachydactyly

Disease Ontology : 12 A brachydactyly type A1 has material basis in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11.

Description from OMIM: 615072

Related Diseases for Brachydactyly, Type A1, C

Symptoms & Phenotypes for Brachydactyly, Type A1, C

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature (fifth to tenth centile)

Skeletal Hands:
shortening of middle phalanges of digits 2 to 5
shortening of first distal phalanx
shortening of first metacarpal
third to fifth metacarpals less shortened

Skeletal Limbs:
truncated ulnar styloid process
normally developed fibula

Skeletal Feet:
shortening of middle phalanges of digits 2 to 5
shortening of first distal phalanx
shortening of first metatarsal
third to fifth metatarsals less shortened
clubfeet (in some patients) <2 of 3 sibs


Clinical features from OMIM:

615072

Human phenotypes related to Brachydactyly, Type A1, C:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 brachydactyly 32 obligate (100%) HP:0001156
3 short distal phalanx of finger 32 HP:0009882
4 bilateral talipes equinovarus 32 HP:0001776
5 short middle phalanx of the 5th finger 32 HP:0004220
6 short middle phalanx of the 2nd finger 32 HP:0009577
7 short middle phalanx of the 4th finger 32 HP:0009295
8 short middle phalanx of the 3rd finger 32 HP:0009439

Drugs & Therapeutics for Brachydactyly, Type A1, C

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

Genetic Tests for Brachydactyly, Type A1, C

Genetic tests related to Brachydactyly, Type A1, C:

# Genetic test Affiliating Genes
1 Brachydactyly, Type A1, C 29 GDF5

Anatomical Context for Brachydactyly, Type A1, C

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

41
Bone

Publications for Brachydactyly, Type A1, C

Variations for Brachydactyly, Type A1, C

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

75
# Symbol AA change Variation ID SNP ID
1 GDF5 p.Arg399Cys VAR_064416
2 GDF5 p.Trp414Arg VAR_073141

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF5 NM_000557.4(GDF5): c.1195C> T (p.Arg399Cys) single nucleotide variant Pathogenic rs397514519 GRCh37 Chromosome 20, 34022018: 34022018
2 GDF5 NM_000557.4(GDF5): c.1195C> T (p.Arg399Cys) single nucleotide variant Pathogenic rs397514519 GRCh38 Chromosome 20, 35434220: 35434220

Expression for Brachydactyly, Type A1, C

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

Pathways for Brachydactyly, Type A1, C

GO Terms for Brachydactyly, Type A1, C

Sources for Brachydactyly, Type A1, C

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
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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