MCID: ART147
MIFTS: 34

Arthrogryposis, Distal, Type 7

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

Aliases & Classifications for Arthrogryposis, Distal, Type 7

MalaCards integrated aliases for Arthrogryposis, Distal, Type 7:

Name: Arthrogryposis, Distal, Type 7 57
Trismus-Pseudocamptodactyly Syndrome 57 53 59 75 37 13 40
Hecht Syndrome 57 53 59 75 29 6 73
Dutch-Kentucky Syndrome 53 59 75
Distal Arthrogryposis Type 7 53 59
Da7 57 75
Mouth, Inability to Open Completely, and Short Finger-Flexor Tendons 57
Trismus Pseudocamptodactyly Syndrome 76
Arthrogryposis Distal Type 7 53
Arthrogryposis, Distal, 7 75
Hecht-Beals Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
trismus-pseudocamptodactyly syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
more common in females
hands clenched at birth but loosen in infancy


HPO:

32
arthrogryposis, distal, type 7:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Arthrogryposis, Distal, Type 7

UniProtKB/Swiss-Prot : 75 Arthrogryposis, distal, 7: 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. DA7 is characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. Additional features include shortened hamstring muscles and short stature.

MalaCards based summary : Arthrogryposis, Distal, Type 7, also known as trismus-pseudocamptodactyly syndrome, is related to arthrogryposis, distal, type 9 and carney complex variant. An important gene associated with Arthrogryposis, Distal, Type 7 is MYH8 (Myosin Heavy Chain 8), and among its related pathways/superpathways is Tight junction. The drugs Cytarabine and Daunorubicin have been mentioned in the context of this disorder. Affiliated tissues include myeloid, and related phenotypes are mandibular prognathia and limitation of joint mobility

NIH Rare Diseases : 53 Trismus-pseudocamptodactyly syndrome (TPS) is a disorder of muscle development and function. It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth. The most serious complications of the condition occur as a result of the limited mobility of the mouth (trismus). TPS is typically reported to be inherited in an autosomal dominant manner and is caused by mutations in the MYH8 gene. Treatment may involve surgical correction and physical therapy. 

Wikipedia : 76 Trismus Pseudocamptodactyly syndrome is a rare genetic condition. A defining feature is the inability to... more...

Description from OMIM: 158300

Related Diseases for Arthrogryposis, Distal, Type 7

Graphical network of the top 20 diseases related to Arthrogryposis, Distal, Type 7:



Diseases related to Arthrogryposis, Distal, Type 7

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 7

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis

Head And Neck Face:
micrognathia
facial asymmetry, mild
deep philtrum (rare)
long chin (rare)

Skeletal Pelvis:
hip dislocation

Head And Neck Head:
macrocephaly (rare)

Skeletal Skull:
enlarged coronoid process

Skeletal Hands:
interphalangeal webbing
flexion of fingers when hand dorsiflexed (pseudocamptodactyly)

Abdomen Gastrointestinal:
dysphagia
feeding problems

Skeletal Feet:
metatarsus adductus
talipes equinovarus
hammer toes
soft tissue syndactyly of toes
downturning toes
more
Growth Height:
short stature (3rd-25th percentile)

Head And Neck Mouth:
limited mouth opening (trismus)

Skeletal Limbs:
short gastrocnemius
reduced elbow supination

Muscle Soft Tissue:
shortening of flexor profundus muscle-tendon unit
shortening of various muscle-tendon groups in legs
shortening of various muscle-tendon groups in feet


Clinical features from OMIM:

158300

Human phenotypes related to Arthrogryposis, Distal, Type 7:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
2 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
3 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
4 abnormality of the musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003011
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 symphalangism affecting the phalanges of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0009773
7 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
8 trismus 32 HP:0000211
9 macrocephaly 32 occasional (7.5%) HP:0000256
10 facial asymmetry 32 HP:0000324
11 micrognathia 32 HP:0000347
12 talipes equinovarus 32 HP:0001762
13 hammertoe 32 HP:0001765
14 metatarsus adductus 32 HP:0001840
15 deep philtrum 32 occasional (7.5%) HP:0002002
16 dysphagia 32 HP:0002015
17 arthrogryposis multiplex congenita 32 HP:0002804
18 distal arthrogryposis 32 HP:0005684
19 cutaneous syndactyly of toes 32 HP:0010621
20 feeding difficulties 32 HP:0011968
21 tall chin 32 occasional (7.5%) HP:0400000

Drugs & Therapeutics for Arthrogryposis, Distal, Type 7

Drugs for Arthrogryposis, Distal, Type 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cytarabine Approved, Investigational Phase 4 147-94-4 6253
2
Daunorubicin Approved Phase 4 20830-81-3 30323
3
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
4 Analgesics Phase 4
5 Anti-Bacterial Agents Phase 4
6 Antibiotics, Antitubercular Phase 4
7 Peripheral Nervous System Agents Phase 4
8 Topoisomerase Inhibitors Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Therapy of Acute Myeloid Leukemia in Patients Over the Age of 60 : DA Versus Mitoxantrone With Intermittent AraC Completed NCT00180167 Phase 4 randomization between two established Chemotherapies

Search NIH Clinical Center for Arthrogryposis, Distal, Type 7

Genetic Tests for Arthrogryposis, Distal, Type 7

Genetic tests related to Arthrogryposis, Distal, Type 7:

# Genetic test Affiliating Genes
1 Hecht Syndrome 29 MYH8

Anatomical Context for Arthrogryposis, Distal, Type 7

MalaCards organs/tissues related to Arthrogryposis, Distal, Type 7:

41
Myeloid

Publications for Arthrogryposis, Distal, Type 7

Articles related to Arthrogryposis, Distal, Type 7:

(show all 13)
# Title Authors Year
1
Trismus-pseudocamptodactyly syndrome: a 20 year follow-up. ( 25101507 )
2014
2
Trismus-pseudocamptodactyly syndrome: a 20 year follow-up. ( 25299023 )
2014
3
Trismus pseudocamptodactyly syndrome: a sporadic cause of trismus. ( 24151558 )
2013
4
Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation. ( 18049072 )
2008
5
Trismus-pseudocamptodactyly syndrome: case report ten years after. ( 19072009 )
2008
6
Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. ( 17041932 )
2006
7
Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review. ( 15888111 )
2005
8
Trismus-pseudocamptodactyly syndrome: a case report. ( 12870986 )
2003
9
Trismus-pseudocamptodactyly syndrome in a Japanese family. ( 4064362 )
1985
10
Orthopaedic aspects of the trismus pseudocamptodactyly syndrome. ( 6470119 )
1984
11
Linkage analysis with the trismus-pseudocamptodactyly syndrome. ( 6953764 )
1982
12
Trismus-pseudocamptodactyly syndrome. ( 6930468 )
1980
13
Trismus pseudocamptodactyly syndrome: Dutch-Kentucky syndrome. ( 4443857 )
1974

Variations for Arthrogryposis, Distal, Type 7

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, Type 7:

75
# Symbol AA change Variation ID SNP ID
1 MYH8 p.Arg674Gln VAR_019810 rs121434590

ClinVar genetic disease variations for Arthrogryposis, Distal, Type 7:

6
(show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH8 NM_002472.2(MYH8): c.2021G> A (p.Arg674Gln) single nucleotide variant Pathogenic rs121434590 GRCh37 Chromosome 17, 10310241: 10310241
2 MYH8 NM_002472.2(MYH8): c.2021G> A (p.Arg674Gln) single nucleotide variant Pathogenic rs121434590 GRCh38 Chromosome 17, 10406924: 10406924
3 MYH8 NM_002472.2(MYH8): c.3254+1G> T single nucleotide variant Conflicting interpretations of pathogenicity rs372740784 GRCh37 Chromosome 17, 10304362: 10304362
4 MYH8 NM_002472.2(MYH8): c.3254+1G> T single nucleotide variant Conflicting interpretations of pathogenicity rs372740784 GRCh38 Chromosome 17, 10401045: 10401045
5 MYH8 NM_002472.2(MYH8): c.3874C> T (p.Arg1292Ter) single nucleotide variant Uncertain significance rs150008607 GRCh37 Chromosome 17, 10302192: 10302192
6 MYH8 NM_002472.2(MYH8): c.3874C> T (p.Arg1292Ter) single nucleotide variant Uncertain significance rs150008607 GRCh38 Chromosome 17, 10398875: 10398875
7 MYH8 NM_002472.2(MYH8): c.5464G> A (p.Val1822Ile) single nucleotide variant Uncertain significance rs143876651 GRCh37 Chromosome 17, 10295963: 10295963
8 MYH8 NM_002472.2(MYH8): c.5464G> A (p.Val1822Ile) single nucleotide variant Uncertain significance rs143876651 GRCh38 Chromosome 17, 10392646: 10392646
9 MYH8 NM_002472.2(MYH8): c.2274A> G (p.Gln758=) single nucleotide variant Uncertain significance rs145901155 GRCh37 Chromosome 17, 10309612: 10309612
10 MYH8 NM_002472.2(MYH8): c.2274A> G (p.Gln758=) single nucleotide variant Uncertain significance rs145901155 GRCh38 Chromosome 17, 10406295: 10406295
11 MYH8 NM_002472.2(MYH8): c.5736G> C (p.Arg1912=) single nucleotide variant Uncertain significance rs371556070 GRCh38 Chromosome 17, 10390532: 10390532
12 MYH8 NM_002472.2(MYH8): c.5736G> C (p.Arg1912=) single nucleotide variant Uncertain significance rs371556070 GRCh37 Chromosome 17, 10293849: 10293849
13 MYH8 NM_002472.2(MYH8): c.5166+14A> G single nucleotide variant Uncertain significance rs201762304 GRCh38 Chromosome 17, 10394235: 10394235
14 MYH8 NM_002472.2(MYH8): c.5166+14A> G single nucleotide variant Uncertain significance rs201762304 GRCh37 Chromosome 17, 10297552: 10297552
15 MYH8 NM_002472.2(MYH8): c.4910G> A (p.Arg1637His) single nucleotide variant Uncertain significance rs886052556 GRCh38 Chromosome 17, 10395185: 10395185
16 MYH8 NM_002472.2(MYH8): c.4910G> A (p.Arg1637His) single nucleotide variant Uncertain significance rs886052556 GRCh37 Chromosome 17, 10298502: 10298502
17 MYH8 NM_002472.2(MYH8): c.4738G> A (p.Ala1580Thr) single nucleotide variant Uncertain significance rs181695343 GRCh38 Chromosome 17, 10395357: 10395357
18 MYH8 NM_002472.2(MYH8): c.4738G> A (p.Ala1580Thr) single nucleotide variant Uncertain significance rs181695343 GRCh37 Chromosome 17, 10298674: 10298674
19 MYH8 NM_002472.2(MYH8): c.4692C> A (p.Ile1564=) single nucleotide variant Uncertain significance rs886052557 GRCh38 Chromosome 17, 10395403: 10395403
20 MYH8 NM_002472.2(MYH8): c.4692C> A (p.Ile1564=) single nucleotide variant Uncertain significance rs886052557 GRCh37 Chromosome 17, 10298720: 10298720
21 MYH8 NM_002472.2(MYH8): c.4688G> A (p.Arg1563His) single nucleotide variant Uncertain significance rs544591533 GRCh38 Chromosome 17, 10395407: 10395407
22 MYH8 NM_002472.2(MYH8): c.4688G> A (p.Arg1563His) single nucleotide variant Uncertain significance rs544591533 GRCh37 Chromosome 17, 10298724: 10298724
23 MYH8 NM_002472.2(MYH8): c.3255-8G> A single nucleotide variant Uncertain significance rs367738995 GRCh38 Chromosome 17, 10400967: 10400967
24 MYH8 NM_002472.2(MYH8): c.3255-8G> A single nucleotide variant Uncertain significance rs367738995 GRCh37 Chromosome 17, 10304284: 10304284
25 MYH8 NM_002472.2(MYH8): c.2987C> G (p.Ser996Cys) single nucleotide variant Uncertain significance rs75477725 GRCh38 Chromosome 17, 10401396: 10401396
26 MYH8 NM_002472.2(MYH8): c.2987C> G (p.Ser996Cys) single nucleotide variant Uncertain significance rs75477725 GRCh37 Chromosome 17, 10304713: 10304713
27 MYH8 NM_002472.2(MYH8): c.1009-4G> A single nucleotide variant Uncertain significance rs886052560 GRCh38 Chromosome 17, 10414044: 10414044
28 MYH8 NM_002472.2(MYH8): c.1009-4G> A single nucleotide variant Uncertain significance rs886052560 GRCh37 Chromosome 17, 10317361: 10317361
29 MYH8 NM_002472.2(MYH8): c.840A> G (p.Leu280=) single nucleotide variant Uncertain significance rs763682269 GRCh38 Chromosome 17, 10414450: 10414450
30 MYH8 NM_002472.2(MYH8): c.840A> G (p.Leu280=) single nucleotide variant Uncertain significance rs763682269 GRCh37 Chromosome 17, 10317767: 10317767
31 MYH8 NM_002472.2(MYH8): c.605C> T (p.Ala202Val) single nucleotide variant Uncertain significance rs886052561 GRCh37 Chromosome 17, 10318832: 10318832
32 MYH8 NM_002472.2(MYH8): c.605C> T (p.Ala202Val) single nucleotide variant Uncertain significance rs886052561 GRCh38 Chromosome 17, 10415515: 10415515
33 MYH8 NM_002472.2(MYH8): c.-7C> T single nucleotide variant Uncertain significance rs201919885 GRCh37 Chromosome 17, 10323551: 10323551
34 MYH8 NM_002472.2(MYH8): c.-7C> T single nucleotide variant Uncertain significance rs201919885 GRCh38 Chromosome 17, 10420234: 10420234
35 MYH8 NM_002472.2(MYH8): c.-65C> T single nucleotide variant Uncertain significance rs143129869 GRCh37 Chromosome 17, 10325014: 10325014
36 MYH8 NM_002472.2(MYH8): c.-65C> T single nucleotide variant Uncertain significance rs143129869 GRCh38 Chromosome 17, 10421697: 10421697
37 MYH8 NM_002472.2(MYH8): c.*72T> C single nucleotide variant Uncertain significance rs184845947 GRCh37 Chromosome 17, 10293699: 10293699
38 MYH8 NM_002472.2(MYH8): c.*72T> C single nucleotide variant Uncertain significance rs184845947 GRCh38 Chromosome 17, 10390382: 10390382
39 MYH8 NM_002472.2(MYH8): c.4784G> A (p.Arg1595Lys) single nucleotide variant Uncertain significance rs145711576 GRCh38 Chromosome 17, 10395311: 10395311
40 MYH8 NM_002472.2(MYH8): c.4784G> A (p.Arg1595Lys) single nucleotide variant Uncertain significance rs145711576 GRCh37 Chromosome 17, 10298628: 10298628
41 MYH8 NM_002472.2(MYH8): c.4433G> A (p.Arg1478His) single nucleotide variant Uncertain significance rs201586936 GRCh38 Chromosome 17, 10396648: 10396648
42 MYH8 NM_002472.2(MYH8): c.4433G> A (p.Arg1478His) single nucleotide variant Uncertain significance rs201586936 GRCh37 Chromosome 17, 10299965: 10299965
43 MYH8 NM_002472.2(MYH8): c.3376G> C (p.Glu1126Gln) single nucleotide variant Uncertain significance rs748982401 GRCh38 Chromosome 17, 10400749: 10400749
44 MYH8 NM_002472.2(MYH8): c.3376G> C (p.Glu1126Gln) single nucleotide variant Uncertain significance rs748982401 GRCh37 Chromosome 17, 10304066: 10304066
45 MYH8 NM_002472.2(MYH8): c.2791G> A (p.Glu931Lys) single nucleotide variant Uncertain significance rs142137577 GRCh38 Chromosome 17, 10401683: 10401683
46 MYH8 NM_002472.2(MYH8): c.2791G> A (p.Glu931Lys) single nucleotide variant Uncertain significance rs142137577 GRCh37 Chromosome 17, 10305000: 10305000
47 MYH8 NM_002472.2(MYH8): c.1989G> A (p.Thr663=) single nucleotide variant Uncertain significance rs886052559 GRCh38 Chromosome 17, 10406956: 10406956
48 MYH8 NM_002472.2(MYH8): c.1989G> A (p.Thr663=) single nucleotide variant Uncertain significance rs886052559 GRCh37 Chromosome 17, 10310273: 10310273
49 MYH8 NM_002472.2(MYH8): c.1416+11T> G single nucleotide variant Uncertain significance rs186333848 GRCh37 Chromosome 17, 10315676: 10315676
50 MYH8 NM_002472.2(MYH8): c.1416+11T> G single nucleotide variant Uncertain significance rs186333848 GRCh38 Chromosome 17, 10412359: 10412359

Expression for Arthrogryposis, Distal, Type 7

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 7.

Pathways for Arthrogryposis, Distal, Type 7

Pathways related to Arthrogryposis, Distal, Type 7 according to KEGG:

37
# Name Kegg Source Accession
1 Tight junction hsa04530

GO Terms for Arthrogryposis, Distal, Type 7

Sources for Arthrogryposis, Distal, Type 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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45 MESH via Orphanet
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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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