MCID: ART131
MIFTS: 22

Arthrogryposis, Distal, Type 4

Categories: Muscle diseases, Fetal diseases, Rare diseases, Genetic diseases, Oral diseases, Bone diseases, Ear diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 4

MalaCards integrated aliases for Arthrogryposis, Distal, Type 4:

Name: Arthrogryposis, Distal, Type 4 53 69
Arthrogryposis-Severe Scoliosis Syndrome 55
Arthrogryposis, Distal, Type Iid; Daiid 53
Arthrogryposis with Severe Scoliosis 53
Arthrogryposis, Distal, Type Iid 53
Distal Arthrogryposis Type Iid 55
Distal Arthrogryposis Type 4 55
Daiid 53
Da4 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
arthrogryposis, distal, type 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 609128
Orphanet 55 ORPHA65720
UMLS via Orphanet 70 C1836756
ICD10 via Orphanet 33 Q68.8
MedGen 39 C1836756
UMLS 69 C1836756

Summaries for Arthrogryposis, Distal, Type 4

OMIM : 53 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, osteopenia and scoliosis. An important gene associated with Arthrogryposis, Distal, Type 4 is DA4 (Arthrogryposis, Distal, Type 4).

Related Diseases for Arthrogryposis, Distal, Type 4

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 4

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Neck:
torticollis

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

Skin Nails Hair Hair:
low posterior hairline
low frontal hairline

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

Human phenotypes related to Arthrogryposis, Distal, Type 4:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 torticollis 31 HP:0000473
2 osteopenia 31 HP:0000938
3 scoliosis 31 HP:0002650
4 kyphosis 31 HP:0002808
5 depressed nasal bridge 31 HP:0005280
6 intellectual disability, severe 31 HP:0010864
7 low posterior hairline 31 HP:0002162
8 talipes equinovarus 31 HP:0001762
9 low anterior hairline 31 HP:0000294
10 hypoplastic labia majora 31 HP:0000059
11 single transverse palmar crease 31 HP:0000954
12 camptodactyly of 2nd-5th fingers 31 HP:0001215
13 cranial asymmetry 31 HP:0000267
14 horizontal nystagmus 31 HP:0000666
15 cutaneous syndactyly between fingers 2 and 5 31 HP:0005650
16 equinovarus deformity 31 HP:0008110
17 lumbar scoliosis 31 HP:0004626
18 hypoplastic helices 31 HP:0008589
19 distal arthrogryposis 31 HP:0005684
20 deviation of the 2nd toe 31 HP:0010326
21 fibular deviation of toes 31 HP:0100500

UMLS symptoms related to Arthrogryposis, Distal, Type 4:


torticollis

Drugs & Therapeutics for Arthrogryposis, Distal, Type 4

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Distal, Type 4

Genetic Tests for Arthrogryposis, Distal, Type 4

Anatomical Context for Arthrogryposis, Distal, Type 4

Publications for Arthrogryposis, Distal, Type 4

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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