BDA1B
MCID: BRC080
MIFTS: 22

Brachydactyly, Type A1, B (BDA1B)

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

Aliases & Classifications for Brachydactyly, Type A1, B

MalaCards integrated aliases for Brachydactyly, Type A1, B:

Name: Brachydactyly, Type A1, B 58 74
Brachydactyly Type A1b 12 15
Bda1b 58 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

33
brachydactyly, type a1, b:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110974
OMIM 58 607004
MedGen 43 C1846949
SNOMED-CT via HPO 70 17268007 237836003 263681008
UMLS 74 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). Affiliated tissues include bone, and related phenotypes are clinodactyly and short stature

Description from OMIM: 607004

Related Diseases for Brachydactyly, Type A1, B

Symptoms & Phenotypes for Brachydactyly, Type A1, B

Human phenotypes related to Brachydactyly, Type A1, B:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 33 HP:0030084
2 short stature 33 HP:0004322
3 short 5th metacarpal 33 HP:0010047
4 short distal phalanx of finger 33 HP:0009882
5 cone-shaped epiphyses of the phalanges of the hand 33 HP:0010230
6 radial deviation of finger 33 HP:0009466
7 type a brachydactyly 33 HP:0009370
8 short middle phalanx of finger 33 HP:0005819
9 broad distal hallux 33 HP:0008111

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
clinodactyly
short fifth metacarpal
short middle phalanges
coned epiphyses
short distal phalanges (fingers 2-5)
more
Skeletal Feet:
broad, distal hallux
broad adducted forefoot

Growth Height:
short stature

Clinical features from OMIM:

607004

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

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

42
Bone

Publications for Brachydactyly, Type A1, B

Articles related to Brachydactyly, Type A1, B:

# Title Authors Year
1
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. ( 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

GO Terms for Brachydactyly, Type A1, B

Sources for Brachydactyly, Type A1, B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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