BDA1B
MCID: BRC080
MIFTS: 37

Brachydactyly, Type A1, B (BDA1B)

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

Aliases & Classifications for Brachydactyly, Type A1, B

MalaCards integrated aliases for Brachydactyly, Type A1, B:

Name: Brachydactyly, Type A1, B 57 70
Brachydactyly Type A1b 12 15
Bda1b 57 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

31
brachydactyly, type a1, b:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110974
OMIM® 57 607004
MedGen 41 C1846949
SNOMED-CT via HPO 68 17268007 237836003 263681008
UMLS 70 C1846949

Summaries for Brachydactyly, Type A1, B

Disease Ontology : 12 A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has material basis in variation in the chromosome region 5p13.3-p13.2.

MalaCards based summary : Brachydactyly, Type A1, B, also known as brachydactyly type a1b, is related to brachydactyly, type a1 and brachydactyly. An important gene associated with Brachydactyly, Type A1, B is BDA1B (Brachydactyly, Type A1, Locus B), and among its related pathways/superpathways are ERK Signaling and Akt Signaling. Related phenotypes are short stature and short 5th metacarpal

More information from OMIM: 607004

Related Diseases for Brachydactyly, Type A1, B

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, B via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 brachydactyly, type a1 29.7 SDK1 PTCH1 NOG IHH HOXD13 GDF5
2 brachydactyly 29.7 PTCH1 NOG IHH HOXD13 GDF5 BMPR1B
3 klippel-feil syndrome 1 10.2 GDF5 BMPR1B
4 acromesomelic dysplasia, hunter-thompson type 10.2 GDF5 BMPR1B
5 microphthalmia, isolated 4 10.2 GDF5 ACVR1
6 acromesomelic dysplasia 10.2 GDF5 BMPR1B
7 cri-du-chat syndrome 10.1
8 pulmonary arterial hypertension associated with congenital heart disease 10.1 BMPR1B BMPR1A
9 brachydactyly, type a4 10.1 IHH HOXD13 GDF5
10 chondrodysplasia, grebe type 10.1 GDF5 BMPR1B
11 acrocapitofemoral dysplasia 10.1 IHH GDF5
12 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.0 BMPR1A ACVR1
13 spondylolysis 10.0 GDF5 BMP2
14 nivelon-nivelon-mabille syndrome 10.0 PTCH1 IHH
15 brachydactyly, type b1 10.0 NOG IHH GDF5
16 brachydactyly, type a1, c 10.0 NOG GDF5 ACVR1
17 brachydactyly, type b2 10.0 NOG GDF5 ACVR1
18 tarsal-carpal coalition syndrome 10.0 NOG GDF5 ACVR1
19 persistent mullerian duct syndrome 10.0 BMPR1B BMPR1A ACVR1
20 cartilage disease 9.9 IHH GDF5 BMP2
21 exostosis 9.9 IHH GDF5 BMP2
22 spondylolisthesis 9.9 GDF5 BMP2
23 orofacial cleft 11 9.9 BMPR1B BMP4
24 du pan syndrome 9.8 NOG IHH GDF5 BMPR1B
25 synostosis 9.8 NOG IHH HOXD13 GDF5
26 myositis ossificans 9.8 BMP4 ACVR1
27 synostoses, tarsal, carpal, and digital 9.8 NOG GDF5 BMPR1B ACVR1
28 dysostosis 9.8 NOG IHH HOXD13 GDF5
29 osteochondroma 9.8 BMPR1B BMP2
30 multiple synostoses syndrome 9.8 NOG GDF5 BMPR1B BMPR1A
31 holoprosencephaly 7 9.8 PTCH1 IHH
32 chronic pulmonary heart disease 9.7 BMPR1B BMP4 ACVR1
33 chromosome 10q23 deletion syndrome 9.7 BMPR1B BMPR1A BMP4
34 ossification of the posterior longitudinal ligament of spine 9.7 BMP4 BMP2
35 atrioventricular septal defect 9.7 BMPR1A BMP4 ACVR1
36 sugarman brachydactyly 9.7 NOG IHH HOXD13 GDF5 BMPR1B
37 double outlet right ventricle 9.7 BMPR1A BMP4 ACVR1
38 synovial chondromatosis 9.5 NOG BMP4 BMP2
39 diffuse idiopathic skeletal hyperostosis 9.5 NOG BMP4 BMP2
40 otosclerosis 9.5 NOG BMP4 BMP2
41 brittle bone disorder 9.4 IHH BMP4 BMP2 ACVR1
42 osseous heteroplasia, progressive 9.3 NOG BMP4 BMP2 ACVR1
43 odontochondrodysplasia 9.3 IHH GDF5 BMP4 BMP2 ACVR1
44 ankylosis 9.2 NOG GDF5 BMP4 BMP2 ACVR1
45 holoprosencephaly 9.2 PTCH1 NOG IHH BMPR1A BMP4
46 pulmonary hypertension 9.2 BMPR1B BMPR1A BMP4 BMP2 ACVR1
47 juvenile polyposis syndrome 9.1 NOG BMPR1B BMPR1A BMP4 BMP2
48 bone development disease 9.1 NOG IHH HOXD13 GDF5 BMP4 BMP2
49 proximal symphalangism 8.9 NOG IHH GDF5 BMPR1B BMP4 BMP2
50 orofacial cleft 8.9 PTCH1 NOG IHH BMPR1A BMP4 BMP2

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



Diseases related to Brachydactyly, Type A1, B

Symptoms & Phenotypes for Brachydactyly, Type A1, B

Human phenotypes related to Brachydactyly, Type A1, B:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 short 5th metacarpal 31 HP:0010047
3 short distal phalanx of finger 31 HP:0009882
4 cone-shaped epiphyses of the phalanges of the hand 31 HP:0010230
5 radial deviation of finger 31 HP:0009466
6 short middle phalanx of finger 31 HP:0005819
7 type a brachydactyly 31 HP:0009370
8 clinodactyly 31 HP:0030084
9 broad distal hallux 31 HP:0008111

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Skeletal Feet:
broad, distal hallux
broad adducted forefoot

Skeletal Hands:
clinodactyly
short fifth metacarpal
short middle phalanges
coned epiphyses
short distal phalanges (fingers 2-5)
more

Clinical features from OMIM®:

607004 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Brachydactyly, Type A1, B according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.23 ACVR1 BMPR1B
2 Decreased substrate adherent cell growth GR00193-A-2 9.23 BMPR1A
3 Decreased substrate adherent cell growth GR00193-A-3 9.23 ACVR1 BMPR1A
4 Decreased substrate adherent cell growth GR00193-A-4 9.23 ACVR1 BMPR1A BMPR1B

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

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.24 ACVR1 BMP2 BMP4 BMPR1A BMPR1B FKBP1A
2 growth/size/body region MP:0005378 10.22 ACVR1 BMP2 BMP4 BMPR1A BMPR1B FKBP1A
3 cardiovascular system MP:0005385 10.2 ACVR1 ADAMTS12 BMP2 BMP4 BMPR1A FKBP1A
4 cellular MP:0005384 10.19 ACVR1 BMP2 BMP4 BMPR1A BMPR1B FKBP1A
5 mortality/aging MP:0010768 10.14 ACVR1 BMP2 BMP4 BMPR1A BMPR1B FKBP1A
6 craniofacial MP:0005382 10.13 ACVR1 BMP2 BMP4 BMPR1A BMPR1B IHH
7 limbs/digits/tail MP:0005371 10.13 ACVR1 BMP2 BMP4 BMPR1A BMPR1B GDF5
8 digestive/alimentary MP:0005381 10.11 ACVR1 BMP2 BMP4 BMPR1A HOXD13 IHH
9 muscle MP:0005369 9.97 ACVR1 BMP4 BMPR1A FKBP1A HOXD13 IHH
10 nervous system MP:0003631 9.97 ACVR1 BMP2 BMP4 BMPR1A BMPR1B FKBP1A
11 hearing/vestibular/ear MP:0005377 9.93 ACVR1 BMP2 BMP4 BMPR1A NOG PTCH1
12 normal MP:0002873 9.8 BMP2 BMP4 BMPR1A BMPR1B FKBP1A NOG
13 reproductive system MP:0005389 9.76 BMP2 BMP4 BMPR1A BMPR1B GDF5 HOXD13
14 respiratory system MP:0005388 9.43 BMP4 BMPR1A FKBP1A IHH NOG PTCH1
15 skeleton MP:0005390 9.32 ACVR1 BMP2 BMP4 BMPR1A BMPR1B GDF5

Drugs & Therapeutics for Brachydactyly, Type A1, B

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

Genetic Tests for Brachydactyly, Type A1, B

Anatomical Context for Brachydactyly, Type A1, B

Publications for Brachydactyly, Type A1, B

Articles related to Brachydactyly, Type A1, B:

# Title Authors PMID Year
1
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2. 57
11897820 2002
2
Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles. 57
10745048 2000
3
Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B. 61
25756154 2015

Variations for Brachydactyly, Type A1, B

Expression for Brachydactyly, Type A1, B

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

Pathways for Brachydactyly, Type A1, B

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

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 PTCH1 IHH GDF5 BMPR1B BMPR1A BMP4
2
Show member pathways
13.22 GDF5 BMPR1B BMPR1A BMP4 BMP2 ACVR1
3
Show member pathways
13.13 GDF5 BMPR1B BMPR1A BMP4 BMP2 ACVR1
4
Show member pathways
12.45 BMPR1B BMPR1A BMP4 BMP2 ACVR1
5
Show member pathways
12.35 NOG BMPR1A BMP4 ACVR1
6
Show member pathways
12.08 NOG BMPR1B BMPR1A BMP4 BMP2 ACVR1
7 12.06 PTCH1 BMP4 ACVR1
8
Show member pathways
11.99 BMPR1B BMPR1A ACVR1
9 11.89 NOG BMPR1A BMP4
10 11.89 BMPR1B BMPR1A BMP4 ACVR1
11 11.85 BMPR1B BMPR1A BMP4 ACVR1
12 11.85 GDF5 BMPR1B BMPR1A BMP4 BMP2
13 11.65 NOG GDF5 BMP4 BMP2
14
Show member pathways
11.58 GDF5 BMP4 BMP2
15 11.51 PTCH1 IHH BMPR1A
16
Show member pathways
11.48 NOG BMPR1B BMPR1A BMP2
17 11.45 NOG FKBP1A BMP4
18 11.35 NOG GDF5 BMP4
19 11.32 BMPR1A BMP4 BMP2
20 11.14 NOG GDF5 BMPR1B BMPR1A BMP4 BMP2
21
Show member pathways
11.05 FKBP1A ACVR1
22 11.02 BMP4 BMP2
23
Show member pathways
10.88 PTCH1 IHH
24 10.62 FKBP1A ACVR1
25 10.6 BMPR1B BMPR1A BMP4 BMP2
26 10.45 PTCH1 BMP4

GO Terms for Brachydactyly, Type A1, B

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

# Name GO ID Score Top Affiliating Genes
1 HFE-transferrin receptor complex GO:1990712 8.96 BMPR1B BMPR1A
2 BMP receptor complex GO:0070724 8.62 BMP2 ACVR1

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

(show top 50) (show all 84)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.21 NOG IHH HOXD13 BMPR1B BMPR1A BMP4
2 cell differentiation GO:0030154 10.19 NOG IHH BMPR1B BMPR1A BMP4 BMP2
3 in utero embryonic development GO:0001701 10.02 PTCH1 NOG IHH BMPR1A BMP2 ACVR1
4 heart development GO:0007507 10.01 BMPR1A BMP4 BMP2 ACVR1
5 skeletal system development GO:0001501 9.95 NOG IHH HOXD13 BMPR1B BMP4 BMP2
6 osteoblast differentiation GO:0001649 9.93 NOG IHH BMP4 BMP2
7 positive regulation of osteoblast differentiation GO:0045669 9.93 BMPR1B BMPR1A BMP4 BMP2 ACVR1
8 transforming growth factor beta receptor signaling pathway GO:0007179 9.92 GDF5 BMPR1A ACVR1
9 ossification GO:0001503 9.92 IHH BMP4 BMP2
10 positive regulation of neuron differentiation GO:0045666 9.91 GDF5 BMP4 BMP2
11 positive regulation of epithelial cell proliferation GO:0050679 9.91 NOG IHH BMPR1A BMP4
12 neural tube closure GO:0001843 9.9 PTCH1 NOG BMP4
13 positive regulation of protein binding GO:0032092 9.89 FKBP1A BMP4 BMP2
14 cellular response to growth factor stimulus GO:0071363 9.89 BMPR1B BMPR1A BMP4 BMP2 ACVR1
15 negative regulation of epithelial cell proliferation GO:0050680 9.88 PTCH1 GDF5 BMP4
16 SMAD protein signal transduction GO:0060395 9.88 GDF5 BMP4 BMP2
17 embryonic limb morphogenesis GO:0030326 9.88 PTCH1 HOXD13 GDF5 BMP4
18 camera-type eye development GO:0043010 9.87 IHH BMPR1B BMP4
19 response to mechanical stimulus GO:0009612 9.87 PTCH1 IHH GDF5
20 odontogenesis of dentin-containing tooth GO:0042475 9.87 BMPR1A BMP4 BMP2
21 chondrocyte differentiation GO:0002062 9.87 BMPR1B BMPR1A BMP4 BMP2
22 heart morphogenesis GO:0003007 9.86 PTCH1 FKBP1A BMPR1A
23 mesoderm formation GO:0001707 9.86 NOG BMPR1A BMP4 ACVR1
24 outflow tract morphogenesis GO:0003151 9.85 NOG BMPR1A BMP4
25 positive regulation of cell differentiation GO:0045597 9.85 BMPR1B BMP4 BMP2
26 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.85 BMPR1A BMP4 BMP2
27 pattern specification process GO:0007389 9.85 PTCH1 NOG IHH HOXD13 BMPR1A
28 branching involved in ureteric bud morphogenesis GO:0001658 9.84 PTCH1 BMP4 BMP2
29 pituitary gland development GO:0021983 9.83 NOG BMPR1A BMP4
30 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.83 GDF5 BMPR1B BMPR1A ACVR1
31 embryonic digit morphogenesis GO:0042733 9.83 NOG IHH HOXD13 BMPR1A BMP4
32 endoderm development GO:0007492 9.82 NOG BMPR1A BMP4
33 outflow tract septum morphogenesis GO:0003148 9.82 BMPR1A BMP4 ACVR1
34 limb morphogenesis GO:0035108 9.81 PTCH1 HOXD13 BMPR1B
35 endocardial cushion morphogenesis GO:0003203 9.81 NOG BMPR1A BMP2 ACVR1
36 negative regulation of chondrocyte differentiation GO:0032331 9.8 GDF5 BMP4 ADAMTS12
37 somite development GO:0061053 9.8 PTCH1 NOG IHH
38 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.8 GDF5 BMPR1A BMP4 BMP2 ACVR1
39 BMP signaling pathway GO:0030509 9.8 NOG GDF5 BMPR1B BMPR1A BMP4 BMP2
40 positive regulation of cartilage development GO:0061036 9.79 BMPR1B BMP4 BMP2
41 smooth muscle tissue development GO:0048745 9.77 PTCH1 IHH BMP4
42 hindlimb morphogenesis GO:0035137 9.77 PTCH1 GDF5 BMPR1A
43 dorsal/ventral pattern formation GO:0009953 9.77 PTCH1 NOG BMPR1B BMPR1A ACVR1
44 branching involved in blood vessel morphogenesis GO:0001569 9.76 IHH ACVR1
45 telencephalon development GO:0021537 9.76 BMP4 BMP2
46 positive regulation of collagen biosynthetic process GO:0032967 9.76 IHH BMP4
47 vasculature development GO:0001944 9.76 IHH BMP4
48 positive regulation of mesenchymal cell proliferation GO:0002053 9.76 IHH BMPR1A
49 lung morphogenesis GO:0060425 9.76 NOG BMP4
50 cardiac muscle cell differentiation GO:0055007 9.75 BMP4 BMP2

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.61 GDF5 BMP4 BMP2
2 activin binding GO:0048185 9.4 FKBP1A ACVR1
3 BMP receptor binding GO:0070700 9.37 BMP4 BMP2
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.33 BMPR1B BMPR1A ACVR1
5 co-receptor binding GO:0039706 9.32 BMP4 BMP2
6 patched binding GO:0005113 9.26 PTCH1 IHH
7 transforming growth factor beta receptor activity, type I GO:0005025 9.13 BMPR1B BMPR1A ACVR1
8 SMAD binding GO:0046332 9.02 FKBP1A BMPR1B BMPR1A BMP2 ACVR1

Sources for Brachydactyly, Type A1, B

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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