MCID: ART122
MIFTS: 24

Arthrogryposis, Distal, Type 8

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

Aliases & Classifications for Arthrogryposis, Distal, Type 8

MalaCards integrated aliases for Arthrogryposis, Distal, Type 8:

Name: Arthrogryposis, Distal, Type 8 53 71
Multiple Pterygium Syndrome, Autosomal Dominant 53 71 69
Distal Arthrogryposis Type 8 49 55 28
Pterygium Syndrome, Multiple, Autosomal Dominant 53 71
Autosomal Dominant Multiple Pterygium Syndrome 49 55
Da8 53 71
Arthrogryposis, Distal, 8 71

Characteristics:

Orphanet epidemiological data:

55
autosomal dominant multiple pterygium syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
arthrogryposis, distal, type 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 178110
Orphanet 55 ORPHA65743
UMLS via Orphanet 70 C1867440
ICD10 via Orphanet 33 Q79.8
MedGen 39 C1867440
MeSH 41 D001176
UMLS 69 C1867440

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 multiple pterygium syndrome, autosomal dominant, is related to taqi polymorphism and multiple pterygium syndrome, escobar variant, and has symptoms including short neck, ptosis and scoliosis. 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

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 8

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Neck:
short neck
webbing of neck

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

Skeletal Hands:
camptodactyly

Head And Neck Mouth:
cleft palate (rare)

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

Head And Neck Ears:
low-set posteriorly rotated ears

Head And Neck Eyes:
ptosis
downslanting palpebral fissures

Growth Height:
short stature

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)

Head And Neck Nose:
long nasal bridge


Clinical features from OMIM:

178110

Human phenotypes related to Arthrogryposis, Distal, Type 8:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 short neck 31 HP:0000470
2 ptosis 31 HP:0000508
3 scoliosis 31 HP:0002650
4 short stature 31 HP:0004322
5 cleft palate 31 occasional (7.5%) HP:0000175
6 arthrogryposis multiplex congenita 31 HP:0002804
7 low-set, posteriorly rotated ears 31 HP:0000368
8 downslanted palpebral fissures 31 HP:0000494
9 spondylolisthesis 31 occasional (7.5%) HP:0003302
10 craniosynostosis 31 occasional (7.5%) HP:0001363
11 hemivertebrae 31 HP:0002937
12 vertebral fusion 31 HP:0002948
13 hip contracture 31 occasional (7.5%) HP:0003273
14 knee flexion contracture 31 HP:0006380
15 camptodactyly 31 HP:0012385
16 multiple pterygia 31 HP:0001040
17 elbow flexion contracture 31 HP:0002987

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:

# Genetic test Affiliating Genes
1 Distal Arthrogryposis Type 8 28 MYH3

Anatomical Context for Arthrogryposis, Distal, Type 8

Publications for Arthrogryposis, Distal, Type 8

Articles related to Arthrogryposis, Distal, Type 8:

# Title Authors Year
1
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. ( 25957469 )
2015

Variations for Arthrogryposis, Distal, Type 8

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

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

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

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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