BDA4
MCID: BRC099
MIFTS: 25

Brachydactyly, Type A4 (BDA4)

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

Aliases & Classifications for Brachydactyly, Type A4

MalaCards integrated aliases for Brachydactyly, Type A4:

Name: Brachydactyly, Type A4 58
Brachymesophalangy Ii and V 58 12 54 60
Brachydactyly Type A4 12 54 60 15
Temtamy Type Brachydactyly 58 12 54
Bda4 58 12 54
Brachymesophalangy 2 and 5 77 74
Brachydactyly, Temtamy Type 60
Brachydactyly Temtamy Type 54

Characteristics:

Orphanet epidemiological data:

60
brachydactyly type a4
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
brachydactyly, type a4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110967
OMIM 58 112800
ICD10 34 Q73.8
ICD10 via Orphanet 35 Q73.8
UMLS via Orphanet 75 C1862139
Orphanet 60 ORPHA93394
MedGen 43 C1862139
UMLS 74 C1862139

Summaries for Brachydactyly, Type A4

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93394Disease definitionBrachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.EpidemiologyBDA4 is very rare.Clinical descriptionWhen the 4th digit is affected, it results in an abnormally shaped middle phalanx, leading to radial deviation of the distal phalanx. Absence of the middle phalanges of the lateral four toes has been reported.Genetic counselingAutosomal dominant inheritance is suggested.Visit the Orphanet disease page for more resources.

MalaCards based summary : Brachydactyly, Type A4, also known as brachymesophalangy ii and v, is related to brachydactyly-syndactyly syndrome and temtamy preaxial brachydactyly syndrome. An important gene associated with Brachydactyly, Type A4 is EPHA7 (EPH Receptor A7). Affiliated tissues include bone and heart, and related phenotypes are short middle phalanx of the 5th finger and shortening of all middle phalanges of the toes

Disease Ontology : 12 A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus.

Wikipedia : 77 Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means... more...

Description from OMIM: 112800

Related Diseases for Brachydactyly, Type A4

Symptoms & Phenotypes for Brachydactyly, Type A4

Human phenotypes related to Brachydactyly, Type A4:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short middle phalanx of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004220
2 shortening of all middle phalanges of the toes 60 33 hallmark (90%) Very frequent (99-80%) HP:0006239
3 short middle phalanx of the 2nd finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009577
4 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
5 symphalangism affecting the phalanges of the hand 60 33 frequent (33%) Frequent (79-30%) HP:0009773
6 talipes equinovarus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001762
7 aplasia of the middle phalanges of the toes 33 HP:0100387
8 congenital talipes calcaneovalgus 33 HP:0005850

Symptoms via clinical synopsis from OMIM:

58
Limbs:
brachydactyly
hypoplastic middle phalanges
brachymesophalangy affecting mainly the 2nd and 5th digits
absent middle phalanges of the lateral four toes
congenital talipes calcaneovalgus

Growth:
normal

Clinical features from OMIM:

112800

Drugs & Therapeutics for Brachydactyly, Type A4

Search Clinical Trials , NIH Clinical Center for Brachydactyly, Type A4

Genetic Tests for Brachydactyly, Type A4

Anatomical Context for Brachydactyly, Type A4

MalaCards organs/tissues related to Brachydactyly, Type A4:

42
Bone, Heart

Publications for Brachydactyly, Type A4

Variations for Brachydactyly, Type A4

Expression for Brachydactyly, Type A4

Search GEO for disease gene expression data for Brachydactyly, Type A4.

Pathways for Brachydactyly, Type A4

GO Terms for Brachydactyly, Type A4

Biological processes related to Brachydactyly, Type A4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 8.62 EPHA7 HOXD13

Sources for Brachydactyly, Type A4

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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