BDA4
MCID: BRC099
MIFTS: 30

Brachydactyly, Type A4 (BDA4)

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

Aliases & Classifications for Brachydactyly, Type A4

MalaCards integrated aliases for Brachydactyly, Type A4:

Name: Brachydactyly, Type A4 57
Brachymesophalangy Ii and V 57 12 20 58
Brachydactyly Type A4 12 20 58 15
Temtamy Type Brachydactyly 57 12 20
Bda4 57 12 20
Brachymesophalangy 2 and 5 73 70
Brachydactyly, Temtamy Type 58
Brachydactyly Temtamy Type 20

Characteristics:

Orphanet epidemiological data:

58
brachydactyly type a4
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
brachydactyly, type a4:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110967
OMIM® 57 112800
ICD10 32 Q73.8
ICD10 via Orphanet 33 Q73.8
UMLS via Orphanet 71 C1862139
Orphanet 58 ORPHA93394
MedGen 41 C1862139
UMLS 70 C1862139

Summaries for Brachydactyly, Type A4

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93394 Definition A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.

MalaCards based summary : Brachydactyly, Type A4, also known as brachymesophalangy ii and v, is related to brachydactyly and brachydactyly, type b2. An important gene associated with Brachydactyly, Type A4 is HOXD13 (Homeobox D13). Affiliated tissues include bone, 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 : 73 Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means... more...

More information from OMIM: 112800

Related Diseases for Brachydactyly, Type A4

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 A4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 brachydactyly 28.7 IHH HOXD13 HOXD12 GDF5 EPHA7
2 brachydactyly, type b2 10.1 GDF5 DECR2
3 acrocapitofemoral dysplasia 10.0 IHH GDF5
4 brachydactyly, type b1 9.9 IHH GDF5
5 cartilage disease 9.9 IHH GDF5
6 du pan syndrome 9.9 IHH GDF5
7 proximal symphalangism 9.9 IHH GDF5
8 syndactyly, type iv 9.9 HOXD13 HOXD12
9 tibia, hypoplasia or aplasia of, with polydactyly 9.8 HOXD13 HOXD12
10 exostosis 9.8 IHH GDF5
11 brachydactyly, type d 9.8 HOXD13 HOXD12
12 brachydactyly, type e1 9.8 HOXD13 HOXD12
13 sugarman brachydactyly 9.8 IHH HOXD13 GDF5
14 brachydactyly, type a1 9.8 IHH HOXD13 GDF5
15 brachydactyly, type a1, b 9.8 IHH HOXD13 GDF5
16 bone development disease 9.8 IHH HOXD13 GDF5
17 synostosis 9.8 IHH HOXD13 GDF5
18 dysostosis 9.8 IHH HOXD13 GDF5
19 hand-foot-genital syndrome 9.7 HOXD13 HOXD12
20 clubfoot 9.7 HOXD13 HOXD12 GDF5
21 synpolydactyly 9.7 HOXD13 HOXD12
22 brachydactyly, type a2 9.6 IHH GDF5
23 brachydactyly-syndactyly syndrome 9.6 HOXD13 HOXD12 EPHA7
24 syndactyly, type v 9.6 HOXD13 HOXD12 EPHA7
25 chromosome 2q35 duplication syndrome 9.1 IHH HOXD13 HOXD12 GDF5 EPHA7

Graphical network of the top 20 diseases related to Brachydactyly, Type A4:



Diseases related to Brachydactyly, Type A4

Symptoms & Phenotypes for Brachydactyly, Type A4

Human phenotypes related to Brachydactyly, Type A4:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short middle phalanx of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004220
2 shortening of all middle phalanges of the toes 58 31 hallmark (90%) Very frequent (99-80%) HP:0006239
3 short middle phalanx of the 2nd finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009577
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 symphalangism affecting the phalanges of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009773
6 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
7 aplasia of the middle phalanges of the toes 31 HP:0100387
8 congenital talipes calcaneovalgus 31 HP:0005850

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Limbs:
brachydactyly
congenital talipes calcaneovalgus
hypoplastic middle phalanges
brachymesophalangy affecting mainly the 2nd and 5th digits
absent middle phalanges of the lateral four toes

Growth:
normal

Clinical features from OMIM®:

112800 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Brachydactyly, Type A4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.92 GDF5 HOXD12 HOXD13 IHH

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:

40
Bone

Publications for Brachydactyly, Type A4

Articles related to Brachydactyly, Type A4:

# Title Authors PMID Year
1
Brachydactyly type A-4 (Temtamy type) with short stature in a Japanese girl and her mother. 57
8387724 1993
2
Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome. 57
4325377 1971
3
Familial absence of middle phalanges with nail dysplasia: a new syndrome. 57
5663738 1968
4
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. 61
17236141 2007
5
[Brachydactyly type A4 (brachymesophalangia II and V, Temtamy type). A rare type of brachydactyly]. 61
8510402 1993

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 9.62 IHH HOXD13 HOXD12 EPHA7
2 cartilage development GO:0051216 9.4 IHH GDF5
3 response to mechanical stimulus GO:0009612 9.37 IHH GDF5
4 skeletal system development GO:0001501 9.33 IHH HOXD13 HOXD12
5 embryonic limb morphogenesis GO:0030326 9.26 HOXD13 GDF5
6 pattern specification process GO:0007389 9.13 IHH HOXD13 HOXD12
7 embryonic digit morphogenesis GO:0042733 8.8 IHH HOXD13 HOXD12

Sources for Brachydactyly, Type A4

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