MCID: BRC080
MIFTS: 23

Brachydactyly, Type A1, B

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 57 73
Brachydactyly Type A1b 12 15
Bda1b 57 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

32
brachydactyly, type a1, b:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 607004
Disease Ontology 12 DOID:0110974
MedGen 42 C1846949
SNOMED-CT via HPO 69 263681008 237836003 17268007
UMLS 73 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Brachydactyly, Type A1, B:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 32 HP:0030084
2 short stature 32 HP:0004322
3 short 5th metacarpal 32 HP:0010047
4 short distal phalanx of finger 32 HP:0009882
5 cone-shaped epiphyses of the phalanges of the hand 32 HP:0010230
6 radial deviation of finger 32 HP:0009466
7 type a brachydactyly 32 HP:0009370
8 short middle phalanx of finger 32 HP:0005819
9 broad distal hallux 32 HP:0008111

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:

41
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 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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