BDA3
MCID: BRC108
MIFTS: 29

Brachydactyly, Type A3 (BDA3)

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

Aliases & Classifications for Brachydactyly, Type A3

MalaCards integrated aliases for Brachydactyly, Type A3:

Name: Brachydactyly, Type A3 56
Brachydactyly Type A3 12 74 52 15 71
Brachydactyly-Clinodactyly 56 12 52
Bda3 56 12 52
Brachymesophalangy V 56 12
Brachydactyly Clinodactyly 74
Brachymesophalangy 5 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
brachydactyly, type a3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110966
OMIM 56 112700
MedGen 41 C1862140
SNOMED-CT via HPO 68 263681008
UMLS 71 C1862140

Summaries for Brachydactyly, Type A3

Disease Ontology : 12 A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger.

MalaCards based summary : Brachydactyly, Type A3, also known as brachydactyly type a3, is related to ruzicka goerz anton syndrome and neurodevelopmental, jaw, eye, and digital syndrome. An important gene associated with Brachydactyly, Type A3 is CISTR (Chondrogenesis-Associated Transcript), and among its related pathways/superpathways are MHC class II antigen presentation and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include bone and heart, and related phenotypes are clinodactyly of the 5th finger and cone-shaped epiphysis

Wikipedia : 74 Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means... more...

More information from OMIM: 112700

Related Diseases for Brachydactyly, Type A3

Graphical network of the top 20 diseases related to Brachydactyly, Type A3:



Diseases related to Brachydactyly, Type A3

Symptoms & Phenotypes for Brachydactyly, Type A3

Human phenotypes related to Brachydactyly, Type A3:

31
# Description HPO Frequency HPO Source Accession
1 clinodactyly of the 5th finger 31 HP:0004209
2 cone-shaped epiphysis 31 HP:0010579
3 short middle phalanx of the 5th finger 31 HP:0004220
4 rhomboid or triangular shaped 5th finger middle phalanx 31 HP:0005910

Symptoms via clinical synopsis from OMIM:

56
Limbs:
brachydactyly
fifth finger clinodactyly
hypoplastic fifth finger middle phalanx
clinomicrodactyly

Growth:
normal

Radiology:
cone-shaped epiphyses
rhomboid or triangular shaped fifth finger middle phalanx

Clinical features from OMIM:

112700

Drugs & Therapeutics for Brachydactyly, Type A3

Search Clinical Trials , NIH Clinical Center for Brachydactyly, Type A3

Genetic Tests for Brachydactyly, Type A3

Anatomical Context for Brachydactyly, Type A3

MalaCards organs/tissues related to Brachydactyly, Type A3:

40
Bone, Heart

Publications for Brachydactyly, Type A3

Articles related to Brachydactyly, Type A3:

# Title Authors PMID Year
1
Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal. 61 56
18494372 2007
2
Brachymesophalangia-V in five samples of children: a descriptive and methodological study. 56
7416253 1980
3
THE INHERITANCE OF THE RADIALLY CURVED LITTLE FINGER. 56
14277138 1965
4
On the inheritance and development of clinodactyly. 56
13080251 1953

Variations for Brachydactyly, Type A3

Expression for Brachydactyly, Type A3

Search GEO for disease gene expression data for Brachydactyly, Type A3.

Pathways for Brachydactyly, Type A3

Pathways related to Brachydactyly, Type A3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.17 ACTR1B ACTR1A
2
Show member pathways
11.17 ACTR1B ACTR1A ACTR10
3 10.78 ACTR1B ACTR1A ACTR10

GO Terms for Brachydactyly, Type A3

Cellular components related to Brachydactyly, Type A3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.55 FARP2 ACTR3B ACTR1B ACTR1A ACTR10
2 dynactin complex GO:0005869 9.13 ACTR1B ACTR1A ACTR10
3 cell cortex region GO:0099738 8.8 ACTR1B ACTR1A ACTR10

Biological processes related to Brachydactyly, Type A3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.33 ACTR1B ACTR1A ACTR10
2 limb morphogenesis GO:0035108 9.26 HOXD13 EVX2
3 establishment of mitotic spindle orientation GO:0000132 9.13 ACTR1B ACTR1A ACTR10
4 nuclear migration along microtubule GO:0030473 8.8 ACTR1B ACTR1A ACTR10

Molecular functions related to Brachydactyly, Type A3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule cortical anchor activity GO:0106006 8.8 ACTR1B ACTR1A ACTR10

Sources for Brachydactyly, Type A3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....