MCID: ART122
MIFTS: 22

Arthrogryposis, Distal, Type 8

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

Aliases & Classifications for Arthrogryposis, Distal, Type 8

MalaCards integrated aliases for Arthrogryposis, Distal, Type 8:

Name: Arthrogryposis, Distal, Type 8 54 71
Distal Arthrogryposis Type 8 50 56 29
Multiple Pterygium Syndrome, Autosomal Dominant 71 69
Autosomal Dominant Multiple Pterygium Syndrome 50 56
Pterygium Syndrome, Multiple, Autosomal Dominant 71
Arthrogryposis, Distal, 8 71
Da8 71

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant multiple pterygium syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
arthrogryposis, distal, type 8:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Arthrogryposis, Distal, Type 8

UniProtKB/Swiss-Prot : 71 Arthrogryposis, distal, 8: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease.

MalaCards based summary : Arthrogryposis, Distal, Type 8, also known as distal arthrogryposis type 8, is related to breast cancer, and has symptoms including short stature, scoliosis and ptosis. An important gene associated with Arthrogryposis, Distal, Type 8 is MYH3 (Myosin Heavy Chain 3).

Description from OMIM: 178110

Related Diseases for Arthrogryposis, Distal, Type 8

Diseases in the Distal Arthrogryposis family:

Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 5d
Arthrogryposis, Distal, Type 2b Arthrogryposis, Distal, Type 1b
Arthrogryposis, Distal, Type 2a Arthrogryposis, Distal, Type 8
Arthrogryposis, Distal, Type 5 Arthrogryposis, Distal, Type 3
Arthrogryposis, Distal, Type 6 Arthrogryposis, Distal, Type 4

Diseases related to Arthrogryposis, Distal, Type 8 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 breast cancer 9.9

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 8

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Eyes:
downslanting palpebral fissures
ptosis

Skeletal- Hands:
camptodactyly

Head And Neck- Ears:
low-set posteriorly rotated ears

Head And Neck- Mouth:
cleft palate (rare)

Head And Neck- Nose:
long nasal bridge

Skeletal- Spine:
scoliosis
hemivertebrae
spondylolisthesis (rare)
vertebral fusion
mild cervical spinal stenosis (rare)

Skeletal- Limbs:
elbow contractures
knee contractures
hip contractures (in some patients)
limited forearm supination

Head And Neck- Neck:
short neck
webbing of neck

Skin Nails & Hair- Skin:
multiple pterygia
hypoplastic flexion creases
antecubital webbing (in some patients)
popliteal webbing
webbing of fingers (rare)

Skeletal- Skull:
craniosynostosis (in some patients)


Clinical features from OMIM:

178110

Human phenotypes related to Arthrogryposis, Distal, Type 8:

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 scoliosis 32 HP:0002650
3 ptosis 32 HP:0000508
4 cleft palate 32 occasional (7.5%) HP:0000175
5 arthrogryposis multiplex congenita 32 HP:0002804
6 hemivertebrae 32 HP:0002937
7 camptodactyly 32 HP:0012385
8 short neck 32 HP:0000470
9 elbow flexion contracture 32 HP:0002987
10 knee flexion contracture 32 HP:0006380
11 spondylolisthesis 32 occasional (7.5%) HP:0003302
12 downslanted palpebral fissures 32 HP:0000494
13 low-set, posteriorly rotated ears 32 HP:0000368
14 craniosynostosis 32 occasional (7.5%) HP:0001363
15 multiple pterygia 32 HP:0001040
16 vertebral fusion 32 HP:0002948
17 hip contracture 32 occasional (7.5%) HP:0003273

Drugs & Therapeutics for Arthrogryposis, Distal, Type 8

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Distal, Type 8

Genetic Tests for Arthrogryposis, Distal, Type 8

Genetic tests related to Arthrogryposis, Distal, Type 8:

id Genetic test Affiliating Genes
1 Distal Arthrogryposis Type 8 29

Anatomical Context for Arthrogryposis, Distal, Type 8

Publications for Arthrogryposis, Distal, Type 8

Variations for Arthrogryposis, Distal, Type 8

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, Type 8:

71
id Symbol AA change Variation ID SNP ID
1 MYH3 p.Gln1075Pro VAR_074670 rs796051884

ClinVar genetic disease variations for Arthrogryposis, Distal, Type 8:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYH3 NM_002470.3(MYH3): c.3224A> C (p.Gln1075Pro) single nucleotide variant Pathogenic rs796051884 GRCh37 Chromosome 17, 10542385: 10542385
2 MYH3 NM_002470.3(MYH3): c.727_729delTCC (p.Ser243del) deletion Pathogenic/Likely pathogenic rs869320749 GRCh37 Chromosome 17, 10551880: 10551882
3 MYH3 NM_002470.3(MYH3): c.3214_3216dupAAT (p.Asn1072_Asp1073insAsn) duplication Pathogenic rs878853126 GRCh38 Chromosome 17, 10639076: 10639078
4 MYH3 NM_002470.3(MYH3): c.850T> G (p.Tyr284Asp) single nucleotide variant Likely pathogenic rs886042111 GRCh37 Chromosome 17, 10550547: 10550547

Expression for Arthrogryposis, Distal, Type 8

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 8.

Pathways for Arthrogryposis, Distal, Type 8

GO Terms for Arthrogryposis, Distal, Type 8

Sources for Arthrogryposis, Distal, Type 8

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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