MCID: ART131
MIFTS: 22

Arthrogryposis, Distal, Type 4

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

Aliases & Classifications for Arthrogryposis, Distal, Type 4

MalaCards integrated aliases for Arthrogryposis, Distal, Type 4:

Name: Arthrogryposis, Distal, Type 4 57 40 73
Arthrogryposis-Severe Scoliosis Syndrome 59
Arthrogryposis, Distal, Type Iid; Daiid 57
Arthrogryposis with Severe Scoliosis 57
Arthrogryposis, Distal, Type Iid 57
Distal Arthrogryposis Type Iid 59
Distal Arthrogryposis Type 4 59
Daiid 57
Da4 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 57 609128
Orphanet 59 ORPHA65720
UMLS via Orphanet 74 C1836756
ICD10 via Orphanet 34 Q68.8
MedGen 42 C1836756
UMLS 73 C1836756

Summaries for Arthrogryposis, Distal, Type 4

OMIM : 57 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). Related phenotypes are osteopenia and scoliosis

Related Diseases for Arthrogryposis, Distal, Type 4

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 4

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Arthrogryposis, Distal, Type 4:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 scoliosis 32 HP:0002650
3 kyphosis 32 HP:0002808
4 depressed nasal bridge 32 HP:0005280
5 intellectual disability, severe 32 HP:0010864
6 low posterior hairline 32 HP:0002162
7 talipes equinovarus 32 HP:0001762
8 low anterior hairline 32 HP:0000294
9 horizontal nystagmus 32 HP:0000666
10 torticollis 32 HP:0000473
11 hypoplastic labia majora 32 HP:0000059
12 single transverse palmar crease 32 HP:0000954
13 camptodactyly of 2nd-5th fingers 32 HP:0001215
14 cranial asymmetry 32 HP:0000267
15 cutaneous syndactyly between fingers 2 and 5 32 HP:0005650
16 equinovarus deformity 32 HP:0008110
17 lumbar scoliosis 32 HP:0004626
18 hypoplastic helices 32 HP:0008589
19 distal arthrogryposis 32 HP:0005684
20 deviation of the 2nd toe 32 HP:0010326
21 fibular deviation of toes 32 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....