DA4
MCID: ART131
MIFTS: 25

Arthrogryposis, Distal, Type 4 (DA4)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 4

MalaCards integrated aliases for Arthrogryposis, Distal, Type 4:

Name: Arthrogryposis, Distal, Type 4 58 41 74
Arthrogryposis-Severe Scoliosis Syndrome 60
Arthrogryposis, Distal, Type Iid; Daiid 58
Arthrogryposis with Severe Scoliosis 58
Arthrogryposis, Distal, Type Iid 58
Distal Arthrogryposis Type Iid 60
Distal Arthrogryposis Type 4 60
Daiid 58
Da4 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
arthrogryposis, distal, type 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 609128
ICD10 via Orphanet 35 Q68.8
UMLS via Orphanet 75 C1836756
Orphanet 60 ORPHA65720
MedGen 43 C1836756
UMLS 74 C1836756

Summaries for Arthrogryposis, Distal, Type 4

OMIM : 58 Distal arthrogryposis type 4 (DA4) is distinguished by the presence of scoliosis (summary by Bamshad et al., 2009). For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120). (609128)

MalaCards based summary : Arthrogryposis, Distal, Type 4, is also known as arthrogryposis-severe scoliosis syndrome, and has symptoms including torticollis An important gene associated with Arthrogryposis, Distal, Type 4 is DA4 (Arthrogryposis, Distal, Type 4). Affiliated tissues include bone and eye, and related phenotypes are osteopenia and scoliosis

Related Diseases for Arthrogryposis, Distal, Type 4

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 4

Human phenotypes related to Arthrogryposis, Distal, Type 4:

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 osteopenia 33 HP:0000938
2 scoliosis 33 HP:0002650
3 kyphosis 33 HP:0002808
4 depressed nasal bridge 33 HP:0005280
5 intellectual disability, severe 33 HP:0010864
6 low posterior hairline 33 HP:0002162
7 talipes equinovarus 33 HP:0001762
8 low anterior hairline 33 HP:0000294
9 horizontal nystagmus 33 HP:0000666
10 torticollis 33 HP:0000473
11 hypoplastic labia majora 33 HP:0000059
12 single transverse palmar crease 33 HP:0000954
13 camptodactyly of 2nd-5th fingers 33 HP:0001215
14 cranial asymmetry 33 HP:0000267
15 hypoplastic helices 33 HP:0008589
16 equinovarus deformity 33 HP:0008110
17 cutaneous syndactyly between fingers 2 and 5 33 HP:0005650
18 lumbar scoliosis 33 HP:0004626
19 tibial deviation of toes 33 HP:0100499
20 distal arthrogryposis 33 HP:0005684
21 deviation of the 2nd toe 33 HP:0010326
22 fibular deviation of toes 33 HP:0100500

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Hair:
low posterior hairline
low frontal hairline

Skeletal Hands:
syndactyly
camptodactyly (adults)
ulnar deviation (adults)

Skeletal Skull:
cranial asymmetry

Skeletal Spine:
lumbar scoliosis
accentuation of physiologic dorsal kyphosis
osteophyte formation of vertebrae

Head And Neck Eyes:
nystagmus, bilateral horizontal

Head And Neck Neck:
torticollis

Skeletal Feet:
syndactyly
club foot
talus valgus
fibular or tibial deviation of toes

Head And Neck Nose:
low nasal bridge

Head And Neck Face:
hypoplastic forehead
low anterior and posterior hairline

Clinical features from OMIM:

609128

UMLS symptoms related to Arthrogryposis, Distal, Type 4:


torticollis

Drugs & Therapeutics for Arthrogryposis, Distal, Type 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Decision Aids for Patients With Nonvalvular Chronic Atrial Fibrillation (DA4AFib) Recruiting NCT03744936 Not Applicable

Search NIH Clinical Center for Arthrogryposis, Distal, Type 4

Genetic Tests for Arthrogryposis, Distal, Type 4

Anatomical Context for Arthrogryposis, Distal, Type 4

MalaCards organs/tissues related to Arthrogryposis, Distal, Type 4:

42
Bone, Eye

Publications for Arthrogryposis, Distal, Type 4

Articles related to Arthrogryposis, Distal, Type 4:

# Title Authors Year
1
Dermaseptin DA4, although closely related to dermaseptin B2, presents chemotactic and Gram-negative selective bactericidal activities. ( 19843179 )
2009
2
Clozapine, a dopamine DA4 receptor antagonist, reduces gastric acid secretion and stress-induced gastric mucosal injury. ( 8152334 )
1994
3
Site-directed mutagenesis of the -10 region of the lacUV5 promoter. Introduction of dA4.dT4 tract suppresses open complex formation. ( 2406269 )
1990

Variations for Arthrogryposis, Distal, Type 4

Expression for Arthrogryposis, Distal, Type 4

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 4.

Pathways for Arthrogryposis, Distal, Type 4

GO Terms for Arthrogryposis, Distal, Type 4

Sources for Arthrogryposis, Distal, Type 4

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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