DA8
MCID: ART122
MIFTS: 25

Arthrogryposis, Distal, Type 8 (DA8)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 8

MalaCards integrated aliases for Arthrogryposis, Distal, Type 8:

Name: Arthrogryposis, Distal, Type 8 58 76 41
Distal Arthrogryposis Type 8 54 60 30 6
Multiple Pterygium Syndrome, Autosomal Dominant 58 76 74
Pterygium Syndrome, Multiple, Autosomal Dominant 58 76
Autosomal Dominant Multiple Pterygium Syndrome 54 60
Da8 58 76
Arthrogryposis, Distal, 8 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant multiple pterygium syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
arthrogryposis, distal, type 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 178110
MeSH 45 D001176
ICD10 via Orphanet 35 Q79.8
UMLS via Orphanet 75 C1867440
Orphanet 60 ORPHA65743
MedGen 43 C1867440
UMLS 74 C1867440

Summaries for Arthrogryposis, Distal, Type 8

UniProtKB/Swiss-Prot : 76 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 spondylolisthesis

Description from OMIM: 178110

Related Diseases for Arthrogryposis, Distal, Type 8

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 8

Human phenotypes related to Arthrogryposis, Distal, Type 8:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 cleft palate 33 occasional (7.5%) HP:0000175
2 spondylolisthesis 33 occasional (7.5%) HP:0003302
3 craniosynostosis 33 occasional (7.5%) HP:0001363
4 hip contracture 33 occasional (7.5%) HP:0003273
5 short neck 33 HP:0000470
6 ptosis 33 HP:0000508
7 scoliosis 33 HP:0002650
8 short stature 33 HP:0004322
9 elbow flexion contracture 33 HP:0002987
10 arthrogryposis multiplex congenita 33 HP:0002804
11 low-set, posteriorly rotated ears 33 HP:0000368
12 downslanted palpebral fissures 33 HP:0000494
13 hemivertebrae 33 HP:0002937
14 vertebral fusion 33 HP:0002948
15 knee flexion contracture 33 HP:0006380
16 camptodactyly 33 HP:0012385
17 multiple pterygia 33 HP:0001040

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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
2
An autosomal dominant multiple pterygium syndrome. ( 2831369 )
1988

Variations for Arthrogryposis, Distal, Type 8

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

76
# Symbol AA change Variation ID SNP ID
1 MYH3 p.Gln1075Pro VAR_074670 rs796051884

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

6 (show all 26)
# 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 rs1555527166 GRCh37 Chromosome 17, 10551880: 10551882
4 MYH3 NM_002470.3(MYH3): c.727_729delTCC (p.Ser243del) deletion Likely pathogenic rs1555527166 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
9 MYH3 NM_002470.3(MYH3): c.1986_1990delTTTAA (p.Asn662Lysfs) deletion Conflicting interpretations of pathogenicity rs771300756 GRCh38 Chromosome 17, 10641342: 10641346
10 MYH3 NM_002470.3(MYH3): c.1986_1990delTTTAA (p.Asn662Lysfs) deletion Conflicting interpretations of pathogenicity rs771300756 GRCh37 Chromosome 17, 10544659: 10544663
11 MYH3 NM_002470.3(MYH3): c.4129G> C (p.Glu1377Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 10538727: 10538727
12 MYH3 NM_002470.3(MYH3): c.4129G> C (p.Glu1377Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 10635410: 10635410
13 MYH3 NM_002470.3(MYH3): c.4647+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 17, 10633590: 10633590
14 MYH3 NM_002470.3(MYH3): c.4647+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 10536907: 10536907
15 MYH3 NM_002470.3(MYH3): c.1581+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 17, 10642825: 10642825
16 MYH3 NM_002470.3(MYH3): c.1581+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 10546142: 10546142
17 MYH3 NC_000017.11: g.10643215_10643387del173 deletion Pathogenic GRCh38 Chromosome 17, 10643215: 10643387
18 MYH3 NC_000017.11: g.10643215_10643387del173 deletion Pathogenic GRCh37 Chromosome 17, 10546532: 10546704
19 MYH3 NM_002470.3(MYH3): c.725C> T (p.Ser242Phe) single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 17, 10648567: 10648567
20 MYH3 NM_002470.3(MYH3): c.725C> T (p.Ser242Phe) single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 17, 10551884: 10551884
21 MYH3 NM_002470.3(MYH3): c.721A> G (p.Asn241Asp) single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 17, 10648571: 10648571
22 MYH3 NM_002470.3(MYH3): c.721A> G (p.Asn241Asp) single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 17, 10551888: 10551888
23 MYH3 NM_002470.3(MYH3): c.141T> G (p.Tyr47Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 10654924: 10654924
24 MYH3 NM_002470.3(MYH3): c.141T> G (p.Tyr47Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 10558241: 10558241
25 MYH3 NM_002470.3(MYH3): c.-9+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 10559406: 10559406
26 MYH3 NM_002470.3(MYH3): c.-9+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 17, 10656089: 10656089

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

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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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