MCID: BRC035
MIFTS: 18

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 54 60
Brachydactyly Type A5 Nail Dysplasia 54 74
Brachydactyly with Absence of Middle Phalanges and Hypoplastic Nails 54
Absent Middle Phalanges of Digits 2-5 with Nail Dysplasia 54

Characteristics:

Orphanet epidemiological data:

60
brachydactyly type a5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q73.8
UMLS via Orphanet 75 C1862138
Orphanet 60 ORPHA93389
UMLS 74 C1862138

Summaries for Brachydactyly Type A5

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93389Disease definitionBrachydactyly 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. 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:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metacarpal bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0001163
2 nail dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002164
3 proximal placement of thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0009623
4 short middle phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0005819
5 complete duplication of distal phalanx of the thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0009606
6 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
7 broad hallux phalanx 60 33 occasional (7.5%) Occasional (29-5%) HP:0010059
8 broad thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0011304
9 synostosis of carpal bones 60 33 occasional (7.5%) Occasional (29-5%) HP:0005048
10 symphalangism affecting the phalanges of the hand 60 33 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:

42
Bone

Publications for Brachydactyly Type A5

Articles related to Brachydactyly Type A5:

# Title Authors Year
1
Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome. ( 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
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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