DA7
MCID: ART147
MIFTS: 34

Arthrogryposis, Distal, Type 7 (DA7)

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 7

MalaCards integrated aliases for Arthrogryposis, Distal, Type 7:

Name: Arthrogryposis, Distal, Type 7 58
Trismus-Pseudocamptodactyly Syndrome 58 54 60 76 38 13 41
Hecht Syndrome 58 54 60 76 30 6 74
Dutch-Kentucky Syndrome 54 60 76
Distal Arthrogryposis Type 7 54 60
Da7 58 76
Mouth, Inability to Open Completely, and Short Finger-Flexor Tendons 58
Trismus Pseudocamptodactyly Syndrome 77
Arthrogryposis Distal Type 7 54
Arthrogryposis, Distal, 7 76
Hecht-Beals Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
trismus-pseudocamptodactyly syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
arthrogryposis, distal, type 7:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Arthrogryposis, Distal, Type 7

UniProtKB/Swiss-Prot : 76 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 short stature and limitation of joint mobility

NIH Rare Diseases : 54 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 : 77 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

Human phenotypes related to Arthrogryposis, Distal, Type 7:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
2 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376
3 abnormality of the musculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003011
4 symphalangism affecting the phalanges of the hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0009773
5 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
6 mandibular prognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000303
7 hip dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002827
8 macrocephaly 33 occasional (7.5%) HP:0000256
9 deep philtrum 33 occasional (7.5%) HP:0002002
10 tall chin 33 occasional (7.5%) HP:0400000
11 dysphagia 33 HP:0002015
12 micrognathia 33 HP:0000347
13 feeding difficulties 33 HP:0011968
14 metatarsus adductus 33 HP:0001840
15 arthrogryposis multiplex congenita 33 HP:0002804
16 talipes equinovarus 33 HP:0001762
17 facial asymmetry 33 HP:0000324
18 trismus 33 HP:0000211
19 hammertoe 33 HP:0001765
20 cutaneous syndactyly of toes 33 HP:0010621
21 distal arthrogryposis 33 HP:0005684

Symptoms via clinical synopsis from OMIM:

58
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

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, Experimental, Investigational Phase 4 147-94-4, 65-46-3 6253
2
Daunorubicin Approved Phase 4 20830-81-3 30323
3
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
4 Peripheral Nervous System Agents Phase 4
5 Anti-Bacterial Agents Phase 4
6 Topoisomerase Inhibitors Phase 4
7 Antibiotics, Antitubercular Phase 4
8 Analgesics 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 30 MYH8

Anatomical Context for Arthrogryposis, Distal, Type 7

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

42
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:

76
# 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 128)
# 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.1701G> A (p.Gln567=) single nucleotide variant Likely benign rs73275411 GRCh37 Chromosome 17, 10312792: 10312792
4 MYH8 NM_002472.2(MYH8): c.1701G> A (p.Gln567=) single nucleotide variant Likely benign rs73275411 GRCh38 Chromosome 17, 10409475: 10409475
5 MYH8 NM_002472.2(MYH8): c.1907C> T (p.Ala636Val) single nucleotide variant Benign/Likely benign rs34693726 GRCh37 Chromosome 17, 10312472: 10312472
6 MYH8 NM_002472.2(MYH8): c.1907C> T (p.Ala636Val) single nucleotide variant Benign/Likely benign rs34693726 GRCh38 Chromosome 17, 10409155: 10409155
7 MYH8 NM_002472.2(MYH8): c.2016C> T (p.Phe672=) single nucleotide variant Benign/Likely benign rs12936716 GRCh37 Chromosome 17, 10310246: 10310246
8 MYH8 NM_002472.2(MYH8): c.2016C> T (p.Phe672=) single nucleotide variant Benign/Likely benign rs12936716 GRCh38 Chromosome 17, 10406929: 10406929
9 MYH8 NM_002472.2(MYH8): c.3117G> A (p.Gly1039=) single nucleotide variant Benign/Likely benign rs3744553 GRCh37 Chromosome 17, 10304500: 10304500
10 MYH8 NM_002472.2(MYH8): c.3117G> A (p.Gly1039=) single nucleotide variant Benign/Likely benign rs3744553 GRCh38 Chromosome 17, 10401183: 10401183
11 MYH8 NM_002472.2(MYH8): c.3270C> T (p.Ile1090=) single nucleotide variant Benign/Likely benign rs3744552 GRCh37 Chromosome 17, 10304261: 10304261
12 MYH8 NM_002472.2(MYH8): c.3270C> T (p.Ile1090=) single nucleotide variant Benign/Likely benign rs3744552 GRCh38 Chromosome 17, 10400944: 10400944
13 MYH8 NM_002472.2(MYH8): c.4233C> T (p.Asn1411=) single nucleotide variant Benign/Likely benign rs138992963 GRCh37 Chromosome 17, 10300249: 10300249
14 MYH8 NM_002472.2(MYH8): c.4233C> T (p.Asn1411=) single nucleotide variant Benign/Likely benign rs138992963 GRCh38 Chromosome 17, 10396932: 10396932
15 MYH8 NM_002472.2(MYH8): c.5074T> C (p.Trp1692Arg) single nucleotide variant Benign/Likely benign rs8069834 GRCh37 Chromosome 17, 10297658: 10297658
16 MYH8 NM_002472.2(MYH8): c.5074T> C (p.Trp1692Arg) single nucleotide variant Benign/Likely benign rs8069834 GRCh38 Chromosome 17, 10394341: 10394341
17 MYH8 NM_002472.2(MYH8): c.5208C> T (p.Asp1736=) single nucleotide variant Benign/Likely benign rs33969260 GRCh37 Chromosome 17, 10296486: 10296486
18 MYH8 NM_002472.2(MYH8): c.5208C> T (p.Asp1736=) single nucleotide variant Benign/Likely benign rs33969260 GRCh38 Chromosome 17, 10393169: 10393169
19 MYH8 NM_002472.2(MYH8): c.714T> C (p.Thr238=) single nucleotide variant Benign/Likely benign rs8068729 GRCh37 Chromosome 17, 10318636: 10318636
20 MYH8 NM_002472.2(MYH8): c.714T> C (p.Thr238=) single nucleotide variant Benign/Likely benign rs8068729 GRCh38 Chromosome 17, 10415319: 10415319
21 MYH8 NM_002472.2(MYH8): c.3874C> T (p.Arg1292Ter) single nucleotide variant Uncertain significance rs150008607 GRCh37 Chromosome 17, 10302192: 10302192
22 MYH8 NM_002472.2(MYH8): c.3874C> T (p.Arg1292Ter) single nucleotide variant Uncertain significance rs150008607 GRCh38 Chromosome 17, 10398875: 10398875
23 MYH8 NM_002472.2(MYH8): c.5464G> A (p.Val1822Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143876651 GRCh37 Chromosome 17, 10295963: 10295963
24 MYH8 NM_002472.2(MYH8): c.5464G> A (p.Val1822Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143876651 GRCh38 Chromosome 17, 10392646: 10392646
25 MYH8 NM_002472.2(MYH8): c.2274A> G (p.Gln758=) single nucleotide variant Conflicting interpretations of pathogenicity rs145901155 GRCh37 Chromosome 17, 10309612: 10309612
26 MYH8 NM_002472.2(MYH8): c.2274A> G (p.Gln758=) single nucleotide variant Conflicting interpretations of pathogenicity rs145901155 GRCh38 Chromosome 17, 10406295: 10406295
27 MYH8 NM_002472.2(MYH8): c.-7C> T single nucleotide variant Uncertain significance rs201919885 GRCh37 Chromosome 17, 10323551: 10323551
28 MYH8 NM_002472.2(MYH8): c.-7C> T single nucleotide variant Uncertain significance rs201919885 GRCh38 Chromosome 17, 10420234: 10420234
29 MYH8 NM_002472.2(MYH8): c.4910G> A (p.Arg1637His) single nucleotide variant Uncertain significance rs886052556 GRCh37 Chromosome 17, 10298502: 10298502
30 MYH8 NM_002472.2(MYH8): c.5736G> C (p.Arg1912=) single nucleotide variant Uncertain significance rs371556070 GRCh38 Chromosome 17, 10390532: 10390532
31 MYH8 NM_002472.2(MYH8): c.5736G> C (p.Arg1912=) single nucleotide variant Uncertain significance rs371556070 GRCh37 Chromosome 17, 10293849: 10293849
32 MYH8 NM_002472.2(MYH8): c.5166+14A> G single nucleotide variant Uncertain significance rs201762304 GRCh38 Chromosome 17, 10394235: 10394235
33 MYH8 NM_002472.2(MYH8): c.5166+14A> G single nucleotide variant Uncertain significance rs201762304 GRCh37 Chromosome 17, 10297552: 10297552
34 MYH8 NM_002472.2(MYH8): c.4910G> A (p.Arg1637His) single nucleotide variant Uncertain significance rs886052556 GRCh38 Chromosome 17, 10395185: 10395185
35 MYH8 NM_002472.2(MYH8): c.4738G> A (p.Ala1580Thr) single nucleotide variant Uncertain significance rs181695343 GRCh38 Chromosome 17, 10395357: 10395357
36 MYH8 NM_002472.2(MYH8): c.4738G> A (p.Ala1580Thr) single nucleotide variant Uncertain significance rs181695343 GRCh37 Chromosome 17, 10298674: 10298674
37 MYH8 NM_002472.2(MYH8): c.4692C> A (p.Ile1564=) single nucleotide variant Uncertain significance rs886052557 GRCh38 Chromosome 17, 10395403: 10395403
38 MYH8 NM_002472.2(MYH8): c.4692C> A (p.Ile1564=) single nucleotide variant Uncertain significance rs886052557 GRCh37 Chromosome 17, 10298720: 10298720
39 MYH8 NM_002472.2(MYH8): c.4688G> A (p.Arg1563His) single nucleotide variant Uncertain significance rs544591533 GRCh38 Chromosome 17, 10395407: 10395407
40 MYH8 NM_002472.2(MYH8): c.4688G> A (p.Arg1563His) single nucleotide variant Uncertain significance rs544591533 GRCh37 Chromosome 17, 10298724: 10298724
41 MYH8 NM_002472.2(MYH8): c.3255-8G> A single nucleotide variant Uncertain significance rs367738995 GRCh38 Chromosome 17, 10400967: 10400967
42 MYH8 NM_002472.2(MYH8): c.3255-8G> A single nucleotide variant Uncertain significance rs367738995 GRCh37 Chromosome 17, 10304284: 10304284
43 MYH8 NM_002472.2(MYH8): c.2987C> G (p.Ser996Cys) single nucleotide variant Uncertain significance rs75477725 GRCh38 Chromosome 17, 10401396: 10401396
44 MYH8 NM_002472.2(MYH8): c.2987C> G (p.Ser996Cys) single nucleotide variant Uncertain significance rs75477725 GRCh37 Chromosome 17, 10304713: 10304713
45 MYH8 NM_002472.2(MYH8): c.1009-4G> A single nucleotide variant Uncertain significance rs886052560 GRCh38 Chromosome 17, 10414044: 10414044
46 MYH8 NM_002472.2(MYH8): c.1009-4G> A single nucleotide variant Uncertain significance rs886052560 GRCh37 Chromosome 17, 10317361: 10317361
47 MYH8 NM_002472.2(MYH8): c.840A> G (p.Leu280=) single nucleotide variant Uncertain significance rs763682269 GRCh38 Chromosome 17, 10414450: 10414450
48 MYH8 NM_002472.2(MYH8): c.840A> G (p.Leu280=) single nucleotide variant Uncertain significance rs763682269 GRCh37 Chromosome 17, 10317767: 10317767
49 MYH8 NM_002472.2(MYH8): c.605C> T (p.Ala202Val) single nucleotide variant Uncertain significance rs886052561 GRCh37 Chromosome 17, 10318832: 10318832
50 MYH8 NM_002472.2(MYH8): c.605C> T (p.Ala202Val) single nucleotide variant Uncertain significance rs886052561 GRCh38 Chromosome 17, 10415515: 10415515

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:

38
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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