MCID: BRC035
MIFTS: 16

Brachydactyly Type A5

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

Aliases & Classifications for Brachydactyly Type A5

MalaCards integrated aliases for Brachydactyly Type A5:

Name: Brachydactyly Type A5 53 59
Brachydactyly Type A5 Nail Dysplasia 53 72
Brachydactyly with Absence of Middle Phalanges and Hypoplastic Nails 53
Absent Middle Phalanges of Digits 2-5 with Nail Dysplasia 53

Characteristics:

Orphanet epidemiological data:

59
brachydactyly type a5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q73.8
UMLS via Orphanet 73 C1862138
Orphanet 59 ORPHA93389
UMLS 72 C1862138

Summaries for Brachydactyly Type A5

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93389DefinitionBrachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.EpidemiologyBDA5 has been described in patients from two unrelated families.Genetic counselingAutosomal dominant inheritance is suggested.Visit the Orphanet disease page for more resources.

MalaCards based summary : Brachydactyly Type A5, also known as brachydactyly type a5 nail dysplasia, is related to brachydactyly, type a4 and brachydactyly. Affiliated tissues include bone, and related phenotypes are abnormality of the metacarpal bones and nail dysplasia

Related Diseases for Brachydactyly Type A5

Symptoms & Phenotypes for Brachydactyly Type A5

Human phenotypes related to Brachydactyly Type A5:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001163
2 nail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002164
3 proximal placement of thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009623
4 short middle phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0005819
5 complete duplication of distal phalanx of the thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009606
6 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
7 broad hallux phalanx 59 32 occasional (7.5%) Occasional (29-5%) HP:0010059
8 broad thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0011304
9 synostosis of carpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0005048
10 symphalangism affecting the phalanges of the hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0009773

Drugs & Therapeutics for Brachydactyly Type A5

Search Clinical Trials , NIH Clinical Center for Brachydactyly Type A5

Genetic Tests for Brachydactyly Type A5

Anatomical Context for Brachydactyly Type A5

MalaCards organs/tissues related to Brachydactyly Type A5:

41
Bone

Publications for Brachydactyly Type A5

Articles related to Brachydactyly Type A5:

# Title Authors PMID Year
1
Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome. 38
4325377 1971

Variations for Brachydactyly Type A5

Expression for Brachydactyly Type A5

Search GEO for disease gene expression data for Brachydactyly Type A5.

Pathways for Brachydactyly Type A5

GO Terms for Brachydactyly Type A5

Sources for Brachydactyly Type A5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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