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 56 73 29 13 6 39 71
Familial Digital Arthropathy-Brachydactyly 58 36
Fdab 56 73
Hand Deformities 43

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 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 : 56 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 arthrogryposis, distal, type 2a. An important gene associated with Digital Arthropathy-Brachydactyly, Familial is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). The drugs Valproic acid and Vitamin C have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, 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

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

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 1 11.8
2 arthrogryposis, distal, type 2a 11.3
3 mucolipidosis iii gamma 11.3
4 windblown hand 11.3
5 acrofacial dysostosis 1, nager type 11.3
6 acheiropody 11.3
7 split hand-foot malformation 11.3
8 arthrogryposis, distal, type 1a 11.0
9 split-hand/foot malformation with long bone deficiency 1 11.0
10 lacrimoauriculodentodigital syndrome 11.0
11 thumbs, congenital clasped 11.0
12 arthrogryposis, distal, type 2b1 11.0
13 neuropathy, hereditary motor and sensory, russe type 11.0
14 charcot-marie-tooth disease, axonal, type 2ee 11.0
15 brachydactyly 10.4
16 arthropathy 10.4
17 rheumatoid arthritis 10.3
18 epidermolysis bullosa 10.3
19 thiemann disease 10.2
20 trpv4-associated disorders 10.2
21 arthritis 10.2
22 epidermolysis bullosa dystrophica 10.2
23 chromosome 2q35 duplication syndrome 10.1
24 polydactyly 10.1
25 recessive dystrophic epidermolysis bullosa 10.1
26 hansen's disease 10.0
27 parkinson disease, late-onset 10.0
28 leprosy 3 10.0
29 plica syndrome 10.0
30 cerebral palsy 10.0
31 synovitis 10.0
32 osteomyelitis 9.9
33 lupus erythematosus 9.9
34 apert syndrome 9.7
35 acroosteolysis 9.7
36 hajdu-cheney syndrome 9.7
37 macrodactyly 9.7
38 osteoporosis 9.7
39 poland syndrome 9.7
40 proteus syndrome 9.7
41 tetralogy of fallot 9.7
42 thanatophoric dysplasia, type i 9.7
43 thumb deformity 9.7
44 epidermolysis bullosa dystrophica, autosomal recessive 9.7
45 mucolipidosis iii alpha/beta 9.7
46 brittle bone disorder 9.7
47 bone mineral density quantitative trait locus 8 9.7
48 bone mineral density quantitative trait locus 15 9.7
49 limb ischemia 9.7
50 scoliosis 9.7

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:

56
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

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
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
2
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 5785 54670067
3 Psychotropic Drugs Phase 2
4 Histone Deacetylase Inhibitors Phase 2
5 Anticonvulsants Phase 2
6 Neurotransmitter Agents Phase 2
7 Calamus Phase 2
8 Trace Elements Phase 2
9 Micronutrients Phase 2
10 Vitamins Phase 2
11 Antioxidants Phase 2
12 Nutrients Phase 2
13 Protective Agents Phase 2
14 abobotulinumtoxinA Early Phase 1
15 Botulinum Toxins Early Phase 1
16 Botulinum Toxins, Type A Early Phase 1
17 Insulin, Globin Zinc
18 insulin

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
2 Lipograft Safety Enriched With Vascular Stromal Fraction Derived From Adipose Tissue, to Treatment of Digital Joint Fibrosis and Refractory Ischemic Digital Ulcers Caused by Systemic Sclerosis Completed NCT04387825 Phase 2 ADSVF application in the right hand
3 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
4 BION Implantable Microstimulator Completed NCT00628537 Phase 1
5 Syndactyly Repair: Comparison of Skin Graft and No Skin Graft Techniques Completed NCT01416090
6 An Outcome Study of Rheumatoid Hand Arthroplasty Completed NCT00124254
7 Evaluation of BOTOX® (Botulinum Toxin Type A) in Combination With Rehabilitation Therapy for the Treatment of Wrist and Hand Muscle Overactivity in Post-Stroke Patients Completed NCT00565201 Early Phase 1 Botox and rehab;Placebo and rehab
8 Improving Holding Function of the Hemiplegic Hand With Chemodenervation Completed NCT02459951
9 Generation and Evaluation of Hand Therapy Devices for Epidermolysis Bullosa (GLOVE Project): Proof of Concept Study for a Dressing Glove Completed NCT03241628
10 Comparison Between Care Strategies for Patients With Osteoarthritis of the Hands Based on the Use of Joint Protection, Assistive Technology and Exercises. Completed NCT03173989
11 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
Bone, Skin

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 56 6
21964574 2011
2
Familial digital arthropathy-brachydactyly. 56 6 61
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 TRPV4, PHE273LEUSNV Pathogenic 35511
2 TRPV4 NM_021625.4(TRPV4):c.812G>C (p.Arg271Pro)SNV Pathogenic 35512 rs387907219 12:110238464-110238464 12:109800659-109800659
3 TRPV4 NM_021625.4(TRPV4):c.809G>T (p.Gly270Val)SNV Pathogenic 35513 rs387907220 12:110238467-110238467 12:109800662-109800662
4 TRPV4 NM_021625.4(TRPV4):c.819C>G (p.Phe273Leu)SNV Pathogenic 126483 rs515726170 12:110238457-110238457 12:109800652-109800652
5 TRPV4 NM_021625.4(TRPV4):c.806G>A (p.Arg269His)SNV Pathogenic/Likely pathogenic 5000 rs267607144 12:110238470-110238470 12:109800665-109800665
6 TRPV4 NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu)SNV Uncertain significance 409288 rs779715512 12:110226437-110226437 12:109788632-109788632
7 TRPV4 NM_021625.4(TRPV4):c.569C>T (p.Thr190Met)SNV Uncertain significance 424209 rs1031096826 12:110240939-110240939 12:109803134-109803134
8 TRPV4 NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser)SNV Uncertain significance 448709 rs375851168 12:110222154-110222154 12:109784349-109784349
9 TRPV4 NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg)SNV Uncertain significance 521109 rs201132615 12:110232249-110232249 12:109794444-109794444
10 TRPV4 NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn)SNV Uncertain significance 575960 rs770149544 12:110252418-110252418 12:109814613-109814613

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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