FDAB
MCID: DGT005
MIFTS: 34

Digital Arthropathy-Brachydactyly, Familial (FDAB)

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

Aliases & Classifications for Digital Arthropathy-Brachydactyly, Familial

MalaCards integrated aliases for Digital Arthropathy-Brachydactyly, Familial:

Name: Digital Arthropathy-Brachydactyly, Familial 57 73 29 13 6 39 71
Familial Digital Arthropathy-Brachydactyly 58 36
Fdab 57 73
Hand Deformities 44

Characteristics:

Orphanet epidemiological data:

58
familial digital arthropathy-brachydactyly
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
digital arthropathy-brachydactyly, familial:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 606835
KEGG 36 H02062
ICD10 via Orphanet 33 M06.8
UMLS via Orphanet 72 C1847406
Orphanet 58 ORPHA85169
MedGen 41 C1847406
SNOMED-CT via HPO 68 263681008 399269003 43476002
UMLS 71 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) (Updated 05-Mar-2021)

MalaCards based summary : Digital Arthropathy-Brachydactyly, Familial, also known as familial digital arthropathy-brachydactyly, is related to acheiropody and lacrimoauriculodentodigital syndrome. An important gene associated with Digital Arthropathy-Brachydactyly, Familial is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). The drugs Clonidine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are brachydactyly and short distal phalanx of finger

KEGG : 36 Familial digital arthropathy-brachydactyly (FDAB) is an autosomal dominant disorder characterized by aggressive osteoarthropathy of the fingers and toes and consequent shortening of the middle and distal phalanges. It is caused by mutations in TRPV4 that encodes the cation channel.

UniProtKB/Swiss-Prot : 73 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

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

Human phenotypes related to Digital Arthropathy-Brachydactyly, Familial:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
2 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
3 short middle phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0005819
4 osteoarthritis of the small joints of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0004268
5 shortening of all distal phalanges of the toes 58 31 hallmark (90%) Very frequent (99-80%) HP:0005793
6 shortening of all middle phalanges of the toes 58 31 hallmark (90%) Very frequent (99-80%) HP:0006239
7 radial deviation of finger 31 HP:0009466
8 short distal phalanx of toe 31 HP:0001857
9 brachytelomesophalangy 31 HP:0005872
10 arthropathy 31 HP:0003040
11 short middle phalanx of toe 31 HP:0003795

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Digital Arthropathy-Brachydactyly, Familial

Drugs for Digital Arthropathy-Brachydactyly, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2 Pharmaceutical Solutions Phase 4
3 Adrenergic alpha-Agonists Phase 4
4 Sympatholytics Phase 4
5 Neurotransmitter Agents Phase 4
6 Antihypertensive Agents Phase 4
7 Analgesics Phase 4
8 Adrenergic Agents Phase 4
9 Adrenergic Agonists Phase 4
10
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
11 Anticonvulsants Phase 2
12 Psychotropic Drugs Phase 2
13 Histone Deacetylase Inhibitors Phase 2
14 abobotulinumtoxinA
15 Botulinum Toxins, Type A
16 Botulinum Toxins
17 Insulin, Globin Zinc
18 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clonidine for Tourniquet-related Pain in Children: A Pilot Study Not yet recruiting NCT04564430 Phase 4 Catapresan
2 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
3 BION Implantable Microstimulator Completed NCT00628537 Phase 1
4 Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane for Mitten Hand Deformity in Patients With Epidermolysis Bullosa Completed NCT01908088 Phase 1
5 Comparison Between Care Strategies for Patients With Osteoarthritis of the Hands Based on the Use of Joint Protection, Assistive Technology and Exercises. Completed NCT03173989
6 Syndactyly Repair: Comparison of Skin Graft and No Skin Graft Techniques Completed NCT01416090
7 Improving Holding Function of the Hemiplegic Hand With Chemodenervation Completed NCT02459951
8 Exploring the Utility of a Novel Adaptive Device for Commercially Available Insulin Pens in Patients With Arthritis or Hand Deformities Terminated NCT02779816

Search 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:

40
Skin, Bone

Publications for Digital Arthropathy-Brachydactyly, Familial

Articles related to Digital Arthropathy-Brachydactyly, Familial:

# Title Authors PMID Year
1
Mutations in TRPV4 cause an inherited arthropathy of hands and feet. 61 57 6
21964574 2011
2
Familial digital arthropathy-brachydactyly. 61 6 57
11891693 2002
3
Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin? 61
31248428 2019
4
The phosphoproteome and its physiological dynamics in Staphylococcus aureus. 61
24457182 2014
5
[Effects of cyclosporine-impregnated versus freeze-dried bone allografts in repairing radial defects in rabbits: a comparative study]. 61
20159697 2010
6
A new gene involved in expression of fructose-1,6-diphosphate aldolase activity in Escherichia coli. 61
393374 1979

Variations for Digital Arthropathy-Brachydactyly, Familial

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRPV4 NM_021625.4(TRPV4):c.812G>C (p.Arg271Pro) SNV Pathogenic 35512 rs387907219 12:110238464-110238464 12:109800659-109800659
2 TRPV4 NM_021625.4(TRPV4):c.809G>T (p.Gly270Val) SNV Pathogenic 35513 rs387907220 12:110238467-110238467 12:109800662-109800662
3 TRPV4 NM_021625.4(TRPV4):c.819C>G (p.Phe273Leu) SNV Pathogenic 126483 rs515726170 12:110238457-110238457 12:109800652-109800652
4 TRPV4 NM_021625.4(TRPV4):c.806G>A (p.Arg269His) SNV Pathogenic 5000 rs267607144 12:110238470-110238470 12:109800665-109800665
5 TRPV4 TRPV4, PHE273LEU SNV Pathogenic 35511
6 TRPV4 NM_021625.4(TRPV4):c.569C>T (p.Thr190Met) SNV Uncertain significance 424209 rs1031096826 12:110240939-110240939 12:109803134-109803134
7 TRPV4 NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) SNV Uncertain significance 575960 rs770149544 12:110252418-110252418 12:109814613-109814613
8 TRPV4 NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg) SNV Uncertain significance 521109 rs201132615 12:110232249-110232249 12:109794444-109794444
9 TRPV4 NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser) SNV Uncertain significance 448709 rs375851168 12:110222154-110222154 12:109784349-109784349
10 TRPV4 NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) SNV Uncertain significance 409288 rs779715512 12:110226437-110226437 12:109788632-109788632

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

73
# 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

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 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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....