MCID: ART122
MIFTS: 24

Arthrogryposis, Distal, Type 8

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

Aliases & Classifications for Arthrogryposis, Distal, Type 8

MalaCards integrated aliases for Arthrogryposis, Distal, Type 8:

Name: Arthrogryposis, Distal, Type 8 57 75 40
Distal Arthrogryposis Type 8 53 59 29 6
Multiple Pterygium Syndrome, Autosomal Dominant 57 75 73
Pterygium Syndrome, Multiple, Autosomal Dominant 57 75
Autosomal Dominant Multiple Pterygium Syndrome 53 59
Da8 57 75
Arthrogryposis, Distal, 8 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant multiple pterygium syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 57 178110
Orphanet 59 ORPHA65743
ICD10 via Orphanet 34 Q79.8
UMLS via Orphanet 74 C1867440
MedGen 42 C1867440
MeSH 44 D001176
UMLS 73 C1867440

Summaries for Arthrogryposis, Distal, Type 8

UniProtKB/Swiss-Prot : 75 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 multiple pterygium syndrome, escobar variant and breast cancer. An important gene associated with Arthrogryposis, Distal, Type 8 is MYH3 (Myosin Heavy Chain 3). Related phenotypes are cleft palate and low-set, posteriorly rotated ears

Description from OMIM: 178110

Related Diseases for Arthrogryposis, Distal, Type 8

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 8

Symptoms via clinical synopsis from OMIM:

57
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:

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

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 29 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:

75
# 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.3224A> C (p.Gln1075Pro) single nucleotide variant Pathogenic rs796051884 GRCh38 Chromosome 17, 10639068: 10639068
3 MYH3 NM_002470.3(MYH3): c.727_729delTCC (p.Ser243del) deletion Likely pathogenic rs869320749 GRCh37 Chromosome 17, 10551880: 10551882
4 MYH3 NM_002470.3(MYH3): c.727_729delTCC (p.Ser243del) deletion Likely pathogenic rs869320749 GRCh38 Chromosome 17, 10648563: 10648565
5 MYH3 NM_002470.3(MYH3): c.3214_3216dupAAT (p.Asn1072_Asp1073insAsn) duplication Pathogenic rs878853126 GRCh37 Chromosome 17, 10542393: 10542395
6 MYH3 NM_002470.3(MYH3): c.3214_3216dupAAT (p.Asn1072_Asp1073insAsn) duplication Pathogenic rs878853126 GRCh38 Chromosome 17, 10639076: 10639078
7 MYH3 NM_002470.3(MYH3): c.850T> G (p.Tyr284Asp) single nucleotide variant Likely pathogenic rs886042111 GRCh37 Chromosome 17, 10550547: 10550547
8 MYH3 NM_002470.3(MYH3): c.850T> G (p.Tyr284Asp) single nucleotide variant Likely pathogenic rs886042111 GRCh38 Chromosome 17, 10647230: 10647230

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
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
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