DA4
MCID: ART131
MIFTS: 30

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, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 4

MalaCards integrated aliases for Arthrogryposis, Distal, Type 4:

Name: Arthrogryposis, Distal, Type 4 56 43 39 71
Distal Arthrogryposis Type 4 12 58 15
Arthrogryposis-Severe Scoliosis Syndrome 12 58
Distal Arthrogryposis Type Iid 12 58
Daiid 56 12
Da4 56 12
Arthrogryposis, Distal, Type Iid; Daiid 56
Arthrogryposis with Severe Scoliosis 56
Arthrogryposis, Distal, Type Iid 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111610
OMIM 56 609128
MeSH 43 C563791
SNOMED-CT 67 715575001
ICD10 via Orphanet 33 Q68.8
UMLS via Orphanet 72 C1836756
Orphanet 58 ORPHA65720
MedGen 41 C1836756
UMLS 71 C1836756

Summaries for Arthrogryposis, Distal, Type 4

OMIM : 56 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, also known as distal arthrogryposis type 4, is related to dentin caries and arthrogryposis, distal, type 10, and has symptoms including torticollis An important gene associated with Arthrogryposis, Distal, Type 4 is DA4 (Arthrogryposis, Distal, Type 4). Related phenotypes are depressed nasal bridge and scoliosis

Disease Ontology : 12 A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis.

Related Diseases for Arthrogryposis, Distal, Type 4

Diseases in the Distal Arthrogryposis family:

Arthrogryposis, Distal, Type 1a Arthrogryposis, Distal, Type 5
Arthrogryposis, Distal, Type 6 Arthrogryposis, Distal, Type 3
Arthrogryposis, Distal, Type 2e Arthrogryposis, Distal, Type 7
Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 2a
Arthrogryposis, Distal, Type 2b1 Arthrogryposis, Distal, Type 4
Arthrogryposis, Distal, Type 1b Arthrogryposis, Distal, Type 5d
Arthrogryposis, Distal, Type 2b2 Arthrogryposis, Distal, Type 2b3

Diseases related to Arthrogryposis, Distal, Type 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 dentin caries 10.3 ZDHHC4 AWAT2
2 arthrogryposis, distal, type 10 10.3 MYH3 FBN2
3 schuurs-hoeijmakers syndrome 10.2 H2AC18 CD27
4 transient hypogammaglobulinemia of infancy 10.2 CD27 CD19
5 waldenstroem's macroglobulinemia 10.2 CD27 CD19
6 mulchandani-bhoj-conlin syndrome 10.1 CD27 CD19
7 immunodeficiency with hyper-igm, type 1 10.0 H2AC18 CD27 CD19
8 primary bacterial infectious disease 10.0 H2AC18 CD27 CD19
9 pfeiffer syndrome 10.0 H2AC18 CD27 CD19
10 epithelial recurrent erosion dystrophy 10.0 TRIR H2AC18
11 combined t cell and b cell immunodeficiency 9.9 H2AC18 CD27 CD19
12 autoimmune lymphoproliferative syndrome 9.9 H2AC18 CD27 CD19
13 immunoglobulin alpha deficiency 9.9 CD27 CD19
14 spherocytosis, type 4 9.9 VEZF1 H2AC18
15 arthrogryposis, distal, type 7 9.7 PGRMC2 MYH3 FBN2 ENY2
16 drug-induced lupus erythematosus 9.7 LBX1 H2AC18
17 arthrogryposis, distal, type 5 9.6 TRMO MYH3 H2AC18 FBN2 ENY2
18 arthrogryposis, distal, type 3 9.3 VEZF1 LBX1 H2AC18 FBN2 AWAT2
19 arthrogryposis, distal, type 6 9.1 TRMO TRIR PGRMC2 MYH3 FBN2 ENY2
20 distal arthrogryposis 8.2 ZDHHC4 VEZF1 PGRMC2 MYH3 LBX1 INSM2

Graphical network of the top 20 diseases related to Arthrogryposis, Distal, Type 4:



Diseases related to Arthrogryposis, Distal, Type 4

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 4

Human phenotypes related to Arthrogryposis, Distal, Type 4:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 depressed nasal bridge 31 HP:0005280
2 scoliosis 31 HP:0002650
3 kyphosis 31 HP:0002808
4 intellectual disability, severe 31 HP:0010864
5 osteopenia 31 HP:0000938
6 low posterior hairline 31 HP:0002162
7 talipes equinovarus 31 HP:0001762
8 low anterior hairline 31 HP:0000294
9 hypoplastic labia majora 31 HP:0000059
10 torticollis 31 HP:0000473
11 single transverse palmar crease 31 HP:0000954
12 camptodactyly of 2nd-5th fingers 31 HP:0001215
13 horizontal nystagmus 31 HP:0000666
14 distal arthrogryposis 31 HP:0005684
15 cranial asymmetry 31 HP:0000267
16 equinovarus deformity 31 HP:0008110
17 cutaneous syndactyly between fingers 2 and 5 31 HP:0005650
18 hypoplastic helices 31 HP:0008589
19 lumbar scoliosis 31 HP:0004626
20 tibial deviation of toes 31 HP:0100499
21 deviation of the 2nd toe 31 HP:0010326
22 fibular deviation of toes 31 HP:0100500

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Hair:
low posterior hairline
low frontal hairline

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

Skeletal Skull:
cranial asymmetry

Head And Neck Nose:
low nasal bridge

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

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

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

GenomeRNAi Phenotypes related to Arthrogryposis, Distal, Type 4 according to GeneCards Suite gene sharing:

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.66 FBN2 H2AC18 VEZF1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-137 9.66 VEZF1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.66 H2AC18
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.66 AWAT2 VEZF1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.66 FBN2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 9.66 AWAT2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.66 H2AC18
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.66 H2AC18
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-174 9.66 VEZF1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.66 VEZF1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.66 VEZF1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.66 FBN2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.66 AWAT2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.66 H2AC18
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.66 H2AC18
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.66 H2AC18
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-46 9.66 AWAT2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.66 AWAT2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-78 9.66 AWAT2

Drugs & Therapeutics for Arthrogryposis, Distal, Type 4

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

Cochrane evidence based reviews: arthrogryposis, distal, type 4

Genetic Tests for Arthrogryposis, Distal, Type 4

Anatomical Context for Arthrogryposis, Distal, Type 4

Publications for Arthrogryposis, Distal, Type 4

Articles related to Arthrogryposis, Distal, Type 4:

# Title Authors PMID Year
1
Arthrogryposis: a review and update. 56
19571066 2009
2
A revised and extended classification of the distal arthrogryposes. 56
8923935 1996
3
Distal arthrogryposis type II D in three generations of a Brazilian family. 56
3565478 1987
4
A new camptodactyly syndrome. 56
7069745 1982
5
The distal arthrogryposes: delineation of new entities--review and nosologic discussion. 56
7039311 1982

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

Biological processes related to Arthrogryposis, Distal, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron differentiation GO:0030182 9.33 LMX1B LHX1 INSM2
2 anatomical structure morphogenesis GO:0009653 9.13 LHX1 LBX1 FBN2
3 immunoglobulin mediated immune response GO:0016064 8.62 CD27 CD19

Sources for Arthrogryposis, Distal, Type 4

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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