MCID: ART131
MIFTS: 18

Arthrogryposis, Distal, Type 4

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

Aliases & Classifications for Arthrogryposis, Distal, Type 4

MalaCards integrated aliases for Arthrogryposis, Distal, Type 4:

Name: Arthrogryposis, Distal, Type 4 54
Arthrogryposis-Severe Scoliosis Syndrome 56
Distal Arthrogryposis Type Iid 56
Distal Arthrogryposis Type 4 56

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
arthrogryposis, distal, type 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Arthrogryposis, Distal, Type 4

OMIM : 54
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 scoliosis, horizontal nystagmus and intellectual disability, severe. 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:

54

Skin Nails & Hair- Hair:
low frontal hairline
low posterior hairline

Skeletal- Skull:
cranial asymmetry

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

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

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:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 horizontal nystagmus 32 HP:0000666
3 intellectual disability, severe 32 HP:0010864
4 kyphosis 32 HP:0002808
5 hypoplastic labia majora 32 HP:0000059
6 talipes equinovarus 32 HP:0001762
7 low anterior hairline 32 HP:0000294
8 osteopenia 32 HP:0000938
9 hypoplastic helices 32 HP:0008589
10 single transverse palmar crease 32 HP:0000954
11 cutaneous syndactyly between fingers 2 and 5 32 HP:0005650
12 distal arthrogryposis 32 HP:0005684
13 equinovarus deformity 32 HP:0008110
14 camptodactyly of 2nd-5th fingers 32 HP:0001215
15 deviation of the 2nd toe 32 HP:0010326
16 fibular deviation of toes 32 HP:0100500

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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