MCID: DGT005
MIFTS: 24

Digital Arthropathy-Brachydactyly, Familial

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

Aliases & Classifications for Digital Arthropathy-Brachydactyly, Familial

MalaCards integrated aliases for Digital Arthropathy-Brachydactyly, Familial:

Name: Digital Arthropathy-Brachydactyly, Familial 57 75 29 13 6 40 73
Familial Digital Arthropathy-Brachydactyly 59 37
Fdab 57 75
Hand Deformities 44

Characteristics:

Orphanet epidemiological data:

59
familial digital arthropathy-brachydactyly
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in first decade of life
changes more marked in hands than feet


HPO:

32
digital arthropathy-brachydactyly, familial:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 606835
Orphanet 59 ORPHA85169
ICD10 via Orphanet 34 M06.8
UMLS via Orphanet 74 C1847406
MedGen 42 C1847406
KEGG 37 H02062
SNOMED-CT via HPO 69 263681008 43476002 399269003
UMLS 73 C1847406

Summaries for Digital Arthropathy-Brachydactyly, Familial

OMIM : 57 Individuals with familial digital arthropathy-brachydactyly appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life and involve irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected, thus distinguishing this disorder from other TRPV4 skeletal dysplasias, the cardinal features of which include abnormalities of the spine and disproportionate short stature (Lamande et al., 2011). (606835)

MalaCards based summary : Digital Arthropathy-Brachydactyly, Familial, also known as familial digital arthropathy-brachydactyly, is related to split-hand/foot malformation 1 and windblown hand. An important gene associated with Digital Arthropathy-Brachydactyly, Familial is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone, and related phenotypes are brachydactyly and osteoarthritis of the small joints of the hand

UniProtKB/Swiss-Prot : 75 Digital arthropathy-brachydactyly, familial: A disorder characterized by irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. Individuals appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected.

Related Diseases for Digital Arthropathy-Brachydactyly, Familial

Diseases related to Digital Arthropathy-Brachydactyly, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 1 11.2
2 windblown hand 11.1
3 acrofacial dysostosis 1, nager type 11.0
4 acheiropody 11.0
5 split hand-foot malformation 11.0
6 arthrogryposis, distal, type 1a 10.7
7 arthrogryposis, distal, type 5 10.7
8 split-hand/foot malformation with long bone deficiency 1 10.7
9 mucolipidosis iii gamma 10.7
10 thumbs, congenital clasped 10.7
11 neuropathy, hereditary motor and sensory, russe type 10.7
12 brachydactyly 10.1
13 arthropathy 10.1
14 epidermolysis bullosa 9.9
15 recessive dystrophic epidermolysis bullosa 9.9
16 proteus syndrome 9.6
17 brittle bone disorder 9.6
18 yaws 9.6
19 bifid nose 9.6
20 hansen's disease 9.6

Graphical network of the top 20 diseases related to Digital Arthropathy-Brachydactyly, Familial:



Diseases related to Digital Arthropathy-Brachydactyly, Familial

Symptoms & Phenotypes for Digital Arthropathy-Brachydactyly, Familial

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
normal bone age

Skeletal Feet:
progressive brachydactyly of middle and distal phalanges
progressive arthropathy of the interphalangeal and metatarsophalangeal joints

Skeletal Hands:
radially deviated phalanges
progressive brachydactyly of middle and distal phalanges
progressive arthropathy of the interphalangeal and metacarpophalangeal joints


Clinical features from OMIM:

606835

Human phenotypes related to Digital Arthropathy-Brachydactyly, Familial:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
2 osteoarthritis of the small joints of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0004268
3 shortening of all distal phalanges of the toes 59 32 hallmark (90%) Very frequent (99-80%) HP:0005793
4 short middle phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0005819
5 shortening of all middle phalanges of the toes 59 32 hallmark (90%) Very frequent (99-80%) HP:0006239
6 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
7 short distal phalanx of toe 32 HP:0001857
8 arthropathy 32 HP:0003040
9 short middle phalanx of toe 32 HP:0003795
10 brachytelomesophalangy 32 HP:0005872
11 radial deviation of finger 32 HP:0009466

Drugs & Therapeutics for Digital Arthropathy-Brachydactyly, Familial

Search Clinical Trials , NIH Clinical Center for Digital Arthropathy-Brachydactyly, Familial

Cochrane evidence based reviews: hand deformities

Genetic Tests for Digital Arthropathy-Brachydactyly, Familial

Genetic tests related to Digital Arthropathy-Brachydactyly, Familial:

# Genetic test Affiliating Genes
1 Digital Arthropathy-Brachydactyly, Familial 29 TRPV4

Anatomical Context for Digital Arthropathy-Brachydactyly, Familial

MalaCards organs/tissues related to Digital Arthropathy-Brachydactyly, Familial:

41
Bone

Publications for Digital Arthropathy-Brachydactyly, Familial

Articles related to Digital Arthropathy-Brachydactyly, Familial:

# Title Authors Year
1
Familial digital arthropathy-brachydactyly, familial: An infrequent cause of joint deformity in the adolescents. ( 28755822 )
2017

Variations for Digital Arthropathy-Brachydactyly, Familial

UniProtKB/Swiss-Prot genetic disease variations for Digital Arthropathy-Brachydactyly, Familial:

75
# Symbol AA change Variation ID SNP ID
1 TRPV4 p.Gly270Val VAR_068498 rs387907220
2 TRPV4 p.Arg271Pro VAR_068499 rs387907219
3 TRPV4 p.Phe273Leu VAR_068500 rs515726170

ClinVar genetic disease variations for Digital Arthropathy-Brachydactyly, Familial:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 TRPV4, PHE273LEU single nucleotide variant Pathogenic
2 TRPV4 NM_021625.4(TRPV4): c.812G> C (p.Arg271Pro) single nucleotide variant Pathogenic rs387907219 GRCh37 Chromosome 12, 110238464: 110238464
3 TRPV4 NM_021625.4(TRPV4): c.812G> C (p.Arg271Pro) single nucleotide variant Pathogenic rs387907219 GRCh38 Chromosome 12, 109800659: 109800659
4 TRPV4 NM_021625.4(TRPV4): c.809G> T (p.Gly270Val) single nucleotide variant Pathogenic rs387907220 GRCh37 Chromosome 12, 110238467: 110238467
5 TRPV4 NM_021625.4(TRPV4): c.809G> T (p.Gly270Val) single nucleotide variant Pathogenic rs387907220 GRCh38 Chromosome 12, 109800662: 109800662
6 TRPV4 NM_021625.4(TRPV4): c.819C> G (p.Phe273Leu) single nucleotide variant Pathogenic rs515726170 GRCh37 Chromosome 12, 110238457: 110238457
7 TRPV4 NM_021625.4(TRPV4): c.819C> G (p.Phe273Leu) single nucleotide variant Pathogenic rs515726170 GRCh38 Chromosome 12, 109800652: 109800652

Expression for Digital Arthropathy-Brachydactyly, Familial

Search GEO for disease gene expression data for Digital Arthropathy-Brachydactyly, Familial.

Pathways for Digital Arthropathy-Brachydactyly, Familial

GO Terms for Digital Arthropathy-Brachydactyly, Familial

Sources for Digital Arthropathy-Brachydactyly, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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