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DA4
MCID: ART131
MIFTS: 28

Arthrogryposis, Distal, Type 4 (DA4)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases, Smell/Taste diseases
Genes Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Arthrogryposis, Distal, Type 4

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MalaCards integrated aliases for Arthrogryposis, Distal, Type 4:

Name: Arthrogryposis, Distal, Type 4 57 44 39 71
Distal Arthrogryposis Type 4 12 58 15
Arthrogryposis-Severe Scoliosis Syndrome 12 58
Distal Arthrogryposis Type Iid 12 58
Daiid 57 12
Da4 57 12
Arthrogryposis, Distal, Type Iid; Daiid 57
Arthrogryposis with Severe Scoliosis 57
Arthrogryposis, Distal, Type Iid 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

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


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Muscle diseases Neuronal diseases Ear diseases Eye diseases Skin diseases Smell/Taste diseases Oral diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111610
OMIM® 57 609128
MeSH 44 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
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Summaries for Arthrogryposis, Distal, Type 4

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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) (Updated 05-Mar-2021)

MalaCards based summary : Arthrogryposis, Distal, Type 4, also known as distal arthrogryposis type 4, is related to arthrogryposis, distal, type 10 and thiamine-responsive megaloblastic anemia syndrome, and has symptoms including torticollis An important gene associated with Arthrogryposis, Distal, Type 4 is DA4 (Arthrogryposis, Distal, Type 4). Related phenotypes are scoliosis and kyphosis

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

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Related Diseases for Arthrogryposis, Distal, Type 4

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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
Arthrogryposis, Distal, Type 1c

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 10 10.2 MYH3 FBN2
2 thiamine-responsive megaloblastic anemia syndrome 10.1 TRMO TRIR
3 transient hypogammaglobulinemia of infancy 10.0 CD27 CD19
4 transient hypogammaglobulinemia 10.0 CD27 CD19
5 schuurs-hoeijmakers syndrome 10.0 CD27 CD19
6 mulchandani-bhoj-conlin syndrome 10.0 CD27 CD19
7 alzheimer disease 10.0
8 immunoglobulin alpha deficiency 10.0 CD27 CD19
9 arthrogryposis, distal, type 3 9.9 VEZF1 LBX1 AWAT2
10 chickenpox 9.9 CD27 CD19
11 t cell deficiency 9.9 CD27 CD19
12 immunodeficiency with hyper-igm, type 1 9.8 CD27 CD19
13 monoclonal gammopathy of uncertain significance 9.7 CD27 CD19
14 arthrogryposis, distal, type 5 9.6 TRMO TRIR MYH3 FBN2 ENY2
15 arthrogryposis, distal, type 7 9.3 PGRMC2 MYH3 FBN2 ENY2 DALIR
16 arthrogryposis, distal, type 6 9.0 TRMO TRIR PGRMC2 MYH3 FBN2 ENY2
17 distal arthrogryposis 8.9 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
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Symptoms & Phenotypes for Arthrogryposis, Distal, Type 4

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Human phenotypes related to Arthrogryposis, Distal, Type 4:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 kyphosis 31 HP:0002808
3 osteopenia 31 HP:0000938
4 depressed nasal bridge 31 HP:0005280
5 intellectual disability, severe 31 HP:0010864
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 cranial asymmetry 31 HP:0000267
15 equinovarus deformity 31 HP:0008110
16 cutaneous syndactyly between fingers 2 and 5 31 HP:0005650
17 distal arthrogryposis 31 HP:0005684
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

UMLS symptoms related to Arthrogryposis, Distal, Type 4:


torticollis
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Drugs & Therapeutics for Arthrogryposis, Distal, Type 4

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

Cochrane evidence based reviews: arthrogryposis, distal, type 4

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Genetic Tests for Arthrogryposis, Distal, Type 4

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Anatomical Context for Arthrogryposis, Distal, Type 4

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Publications for Arthrogryposis, Distal, Type 4

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Articles related to Arthrogryposis, Distal, Type 4:

# Title Authors PMID Year
1
Arthrogryposis: a review and update. 57
19571066 2009
2
A revised and extended classification of the distal arthrogryposes. 57
8923935 1996
3
Distal arthrogryposis type II D in three generations of a Brazilian family. 57
3565478 1987
4
The distal arthrogryposes: delineation of new entities--review and nosologic discussion. 57
7039311 1982
5
A new camptodactyly syndrome. 57
7069745 1982
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Variations for Arthrogryposis, Distal, Type 4

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Expression for Arthrogryposis, Distal, Type 4

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

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GO Terms for Arthrogryposis, Distal, Type 4

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

# Name GO ID Score Top Affiliating Genes
1 immunoglobulin mediated immune response GO:0016064 8.62 CD27 CD19
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Sources for Arthrogryposis, Distal, Type 4

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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