BDA1C
MCID: BRC075
MIFTS: 34

Brachydactyly, Type A1, C (BDA1C)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental 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 39 71
Bda1c 57 12 73
Brachydactyly Type A1c 12 15
Brachydactyly Type A1 C 73
Brachydactyly A1, C 73
Brachydactyly A1c 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
autosomal dominant (milder phenotype)

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


HPO:

31
brachydactyly, type a1, c:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110977
OMIM® 57 615072
MeSH 44 D059327
UMLS 71 C3554446

Summaries for Brachydactyly, Type A1, C

UniProtKB/Swiss-Prot : 73 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, also known as bda1c, is related to symphalangism, proximal, 1b and multiple synostoses syndrome 2. An important gene associated with Brachydactyly, Type A1, C is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are PEDF Induced Signaling and PAK Pathway. Related phenotypes are brachydactyly and short stature

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

More information from OMIM: 615072

Related Diseases for Brachydactyly, Type A1, C

Diseases in the Brachydactyly family:

Brachydactyly, Type A1 Brachydactyly, Type A2
Brachydactyly, Type A3 Brachydactyly, Type A4
Brachydactyly, Type B1 Brachydactyly, Type C
Brachydactyly, Type D Brachydactyly, Type E1
Brachydactyly, Type A1, B Brachydactyly, Type B2
Brachydactyly, Type E2 Brachydactyly, Type A1, C
Brachydactyly, Type A1, D Brachydactyly Type A5
Brachydactyly Type A7

Diseases related to Brachydactyly, Type A1, C via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 symphalangism, proximal, 1b 10.2 GDF5-AS1 GDF5
2 multiple synostoses syndrome 2 10.1 GDF5-AS1 GDF5
3 klippel-feil syndrome 1 10.1 GDF6 GDF5
4 klippel-feil syndrome 10.1 GDF6 GDF5
5 acromesomelic dysplasia, hunter-thompson type 10.1 GDF5-AS1 GDF5
6 acromesomelic dysplasia 10.1 GDF5-AS1 GDF5
7 chondrodysplasia, grebe type 10.1 GDF5-AS1 GDF5
8 achondrogenesis, type ii 10.1 GDF5-AS1 GDF5
9 bone deterioration disease 10.0 GDF6 GDF5
10 brachydactyly, type c 10.0 GDF5-AS1 GDF5
11 sugarman brachydactyly 10.0 NOG GDF5
12 brachydactyly, type b1 10.0 NOG GDF5
13 bone structure disease 10.0 GDF6 GDF5
14 shoulder impingement syndrome 9.9 GDF7 GDF6
15 brachydactyly 9.8 NOG GDF5-AS1 GDF5
16 epicondylitis 9.8 GDF7 GDF6
17 osseous heteroplasia, progressive 9.8 NOG ACVR1
18 bone development disease 9.8 NOG GDF5
19 fibrodysplasia ossificans progressiva 9.8 NOG ACVR1
20 brachydactyly, type a1, b 9.7 NOG GDF5 ACVR1
21 brachydactyly, type b2 9.7 NOG GDF5 ACVR1
22 tarsal-carpal coalition syndrome 9.7 NOG GDF5 ACVR1
23 ankylosis 9.7 NOG GDF5 ACVR1
24 synostosis 9.7 NOG GDF5
25 microphthalmia, syndromic 6 9.6 GDF7 GDF6 BMP8A
26 brachydactyly, type a1 9.6 NOG GDF6 GDF5-AS1 GDF5
27 du pan syndrome 9.6 PAEP NOG GDF5-AS1 GDF5
28 synostoses, tarsal, carpal, and digital 9.5 NOG GDF6 GDF5 ACVR1
29 multiple synostoses syndrome 9.3 PAEP NOG GDF6 GDF5-AS1 GDF5
30 leber congenital amaurosis 17 9.2 PAEP GDF7 GDF6 GDF5 BMP8A
31 proximal symphalangism 9.1 PAEP NOG GDF6 GDF5-AS1 GDF5 ACVR1
32 brachydactyly, type a2 9.0 PAEP NOG GDF6 GDF5-AS1 GDF5 ACVR1
33 microphthalmia, isolated 4 8.9 PAEP GDF7 GDF6 GDF5 BMP8A ACVR1

Graphical network of the top 20 diseases related to Brachydactyly, Type A1, C:



Diseases related to Brachydactyly, Type A1, C

Symptoms & Phenotypes for Brachydactyly, Type A1, C

Human phenotypes related to Brachydactyly, Type A1, C:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 brachydactyly 31 obligate (100%) HP:0001156
2 short stature 31 HP:0004322
3 short distal phalanx of finger 31 HP:0009882
4 bilateral talipes equinovarus 31 HP:0001776
5 short middle phalanx of the 5th finger 31 HP:0004220
6 short middle phalanx of the 2nd finger 31 HP:0009577
7 short middle phalanx of the 4th finger 31 HP:0009295
8 short middle phalanx of the 3rd finger 31 HP:0009439

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Brachydactyly, Type A1, C:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.92 ACVR1 GDF5 GDF6 NOG

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

Publications for Brachydactyly, Type A1, C

Articles related to Brachydactyly, Type A1, C:

# Title Authors PMID Year
1
Mutations in GDF5 presenting as semidominant brachydactyly A1. 57 6
20683927 2010

Variations for Brachydactyly, Type A1, C

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GDF5-AS1 NM_000557.5(GDF5):c.1195C>T (p.Arg399Cys) SNV Pathogenic 39515 rs397514519 20:34022018-34022018 20:35434220-35434220

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

73
# Symbol AA change Variation ID SNP ID
1 GDF5 p.Arg399Cys VAR_064416 rs397514519
2 GDF5 p.Trp414Arg VAR_073141

Expression for Brachydactyly, Type A1, C

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

Pathways for Brachydactyly, Type A1, C

Pathways related to Brachydactyly, Type A1, C according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 GDF7 GDF6 GDF5 BMP8A ACVR1
2
Show member pathways
12.8 GDF6 GDF5 BMP8A ACVR1
3
Show member pathways
12.2 GDF6 GDF5 BMP8A
4
Show member pathways
11.93 GDF6 GDF5 BMP8A
5
Show member pathways
11.71 GDF6 GDF5 BMP8A
6 11.45 NOG GDF5
7 11.45 GDF7 GDF6 GDF5 BMP8A
8 11.07 NOG GDF7 GDF6 GDF5 BMP8A ACVR1
9 11.02 GDF6 GDF5 BMP8A
10 10.94 NOG GDF5

GO Terms for Brachydactyly, Type A1, C

Cellular components related to Brachydactyly, Type A1, C according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 PAEP NOG GDF7 GDF6 GDF5 BMP8A
2 extracellular space GO:0005615 9.1 PAEP NOG GDF7 GDF6 GDF5 BMP8A

Biological processes related to Brachydactyly, Type A1, C according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.86 PAEP NOG GDF6 BMP8A
2 positive regulation of neuron differentiation GO:0045666 9.57 GDF7 GDF5
3 neural tube development GO:0021915 9.55 NOG GDF7
4 dorsal/ventral pattern formation GO:0009953 9.54 NOG ACVR1
5 cartilage development GO:0051216 9.54 NOG GDF5 BMP8A
6 cellular response to BMP stimulus GO:0071773 9.52 NOG ACVR1
7 ventricular septum morphogenesis GO:0060412 9.51 NOG ACVR1
8 activin receptor signaling pathway GO:0032924 9.5 GDF7 GDF6 ACVR1
9 mesoderm formation GO:0001707 9.49 NOG ACVR1
10 positive regulation of chondrocyte differentiation GO:0032332 9.48 GDF6 GDF5
11 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.46 GDF5 ACVR1
12 SMAD protein signal transduction GO:0060395 9.46 GDF7 GDF6 GDF5 BMP8A
13 endocardial cushion morphogenesis GO:0003203 9.43 NOG ACVR1
14 pathway-restricted SMAD protein phosphorylation GO:0060389 9.43 GDF7 GDF6 ACVR1
15 BMP signaling pathway involved in heart development GO:0061312 9.4 NOG ACVR1
16 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.35 GDF7 GDF6 GDF5 BMP8A ACVR1
17 BMP signaling pathway GO:0030509 9.1 NOG GDF7 GDF6 GDF5 BMP8A ACVR1

Molecular functions related to Brachydactyly, Type A1, C according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.26 GDF7 GDF6 GDF5 BMP8A
2 growth factor activity GO:0008083 8.92 GDF7 GDF6 GDF5 BMP8A

Sources for Brachydactyly, Type A1, C

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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