DA7
MCID: ART147
MIFTS: 33

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 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 Mitoxantrone have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and t cells, and related phenotypes are ptosis and mandibular prognathia

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

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
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
3
Daunorubicin Approved Phase 4 20830-81-3 30323
4 Analgesics Phase 4
5 Antibiotics, Antitubercular Phase 4
6 Peripheral Nervous System Agents Phase 4
7 Anti-Bacterial 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
Bone, Eye, T Cells

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 136)
# 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.1209C> A (p.Cys403Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs144321381 GRCh37 Chromosome 17, 10315984: 10315984
4 MYH8 NM_002472.2(MYH8): c.1209C> A (p.Cys403Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs144321381 GRCh38 Chromosome 17, 10412667: 10412667
5 MYH8 NM_002472.2(MYH8): c.1701G> A (p.Gln567=) single nucleotide variant Likely benign rs73275411 GRCh37 Chromosome 17, 10312792: 10312792
6 MYH8 NM_002472.2(MYH8): c.1701G> A (p.Gln567=) single nucleotide variant Likely benign rs73275411 GRCh38 Chromosome 17, 10409475: 10409475
7 MYH8 NM_002472.2(MYH8): c.1907C> T (p.Ala636Val) single nucleotide variant Benign/Likely benign rs34693726 GRCh37 Chromosome 17, 10312472: 10312472
8 MYH8 NM_002472.2(MYH8): c.1907C> T (p.Ala636Val) single nucleotide variant Benign/Likely benign rs34693726 GRCh38 Chromosome 17, 10409155: 10409155
9 MYH8 NM_002472.2(MYH8): c.2016C> T (p.Phe672=) single nucleotide variant Benign/Likely benign rs12936716 GRCh37 Chromosome 17, 10310246: 10310246
10 MYH8 NM_002472.2(MYH8): c.2016C> T (p.Phe672=) single nucleotide variant Benign/Likely benign rs12936716 GRCh38 Chromosome 17, 10406929: 10406929
11 MYH8 NM_002472.2(MYH8): c.3117G> A (p.Gly1039=) single nucleotide variant Benign/Likely benign rs3744553 GRCh37 Chromosome 17, 10304500: 10304500
12 MYH8 NM_002472.2(MYH8): c.3117G> A (p.Gly1039=) single nucleotide variant Benign/Likely benign rs3744553 GRCh38 Chromosome 17, 10401183: 10401183
13 MYH8 NM_002472.2(MYH8): c.3270C> T (p.Ile1090=) single nucleotide variant Benign/Likely benign rs3744552 GRCh37 Chromosome 17, 10304261: 10304261
14 MYH8 NM_002472.2(MYH8): c.3270C> T (p.Ile1090=) single nucleotide variant Benign/Likely benign rs3744552 GRCh38 Chromosome 17, 10400944: 10400944
15 MYH8 NM_002472.2(MYH8): c.4233C> T (p.Asn1411=) single nucleotide variant Benign/Likely benign rs138992963 GRCh37 Chromosome 17, 10300249: 10300249
16 MYH8 NM_002472.2(MYH8): c.4233C> T (p.Asn1411=) single nucleotide variant Benign/Likely benign rs138992963 GRCh38 Chromosome 17, 10396932: 10396932
17 MYH8 NM_002472.2(MYH8): c.5074T> C (p.Trp1692Arg) single nucleotide variant Benign/Likely benign rs8069834 GRCh37 Chromosome 17, 10297658: 10297658
18 MYH8 NM_002472.2(MYH8): c.5074T> C (p.Trp1692Arg) single nucleotide variant Benign/Likely benign rs8069834 GRCh38 Chromosome 17, 10394341: 10394341
19 MYH8 NM_002472.2(MYH8): c.5208C> T (p.Asp1736=) single nucleotide variant Benign/Likely benign rs33969260 GRCh37 Chromosome 17, 10296486: 10296486
20 MYH8 NM_002472.2(MYH8): c.5208C> T (p.Asp1736=) single nucleotide variant Benign/Likely benign rs33969260 GRCh38 Chromosome 17, 10393169: 10393169
21 MYH8 NM_002472.2(MYH8): c.714T> C (p.Thr238=) single nucleotide variant Benign/Likely benign rs8068729 GRCh37 Chromosome 17, 10318636: 10318636
22 MYH8 NM_002472.2(MYH8): c.3254+1G> T single nucleotide variant Conflicting interpretations of pathogenicity rs372740784 GRCh37 Chromosome 17, 10304362: 10304362
23 MYH8 NM_002472.2(MYH8): c.3254+1G> T single nucleotide variant Conflicting interpretations of pathogenicity rs372740784 GRCh38 Chromosome 17, 10401045: 10401045
24 MYH8 NM_002472.2(MYH8): c.3874C> T (p.Arg1292Ter) single nucleotide variant Uncertain significance rs150008607 GRCh37 Chromosome 17, 10302192: 10302192
25 MYH8 NM_002472.2(MYH8): c.3874C> T (p.Arg1292Ter) single nucleotide variant Uncertain significance rs150008607 GRCh38 Chromosome 17, 10398875: 10398875
26 MYH8 NM_002472.2(MYH8): c.5464G> A (p.Val1822Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143876651 GRCh37 Chromosome 17, 10295963: 10295963
27 MYH8 NM_002472.2(MYH8): c.5464G> A (p.Val1822Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143876651 GRCh38 Chromosome 17, 10392646: 10392646
28 MYH8 NM_002472.2(MYH8): c.2274A> G (p.Gln758=) single nucleotide variant Conflicting interpretations of pathogenicity rs145901155 GRCh37 Chromosome 17, 10309612: 10309612
29 MYH8 NM_002472.2(MYH8): c.2274A> G (p.Gln758=) single nucleotide variant Conflicting interpretations of pathogenicity rs145901155 GRCh38 Chromosome 17, 10406295: 10406295
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.*72T> C single nucleotide variant Uncertain significance rs184845947 GRCh37 Chromosome 17, 10293699: 10293699
33 MYH8 NM_002472.2(MYH8): c.*72T> C single nucleotide variant Uncertain significance rs184845947 GRCh38 Chromosome 17, 10390382: 10390382
34 MYH8 NM_002472.2(MYH8): c.4784G> A (p.Arg1595Lys) single nucleotide variant Uncertain significance rs145711576 GRCh38 Chromosome 17, 10395311: 10395311
35 MYH8 NM_002472.2(MYH8): c.4784G> A (p.Arg1595Lys) single nucleotide variant Uncertain significance rs145711576 GRCh37 Chromosome 17, 10298628: 10298628
36 MYH8 NM_002472.2(MYH8): c.4433G> A (p.Arg1478His) single nucleotide variant Uncertain significance rs201586936 GRCh38 Chromosome 17, 10396648: 10396648
37 MYH8 NM_002472.2(MYH8): c.4433G> A (p.Arg1478His) single nucleotide variant Uncertain significance rs201586936 GRCh37 Chromosome 17, 10299965: 10299965
38 MYH8 NM_002472.2(MYH8): c.3376G> C (p.Glu1126Gln) single nucleotide variant Uncertain significance rs748982401 GRCh38 Chromosome 17, 10400749: 10400749
39 MYH8 NM_002472.2(MYH8): c.3376G> C (p.Glu1126Gln) single nucleotide variant Uncertain significance rs748982401 GRCh37 Chromosome 17, 10304066: 10304066
40 MYH8 NM_002472.2(MYH8): c.2791G> A (p.Glu931Lys) single nucleotide variant Uncertain significance rs142137577 GRCh38 Chromosome 17, 10401683: 10401683
41 MYH8 NM_002472.2(MYH8): c.2791G> A (p.Glu931Lys) single nucleotide variant Uncertain significance rs142137577 GRCh37 Chromosome 17, 10305000: 10305000
42 MYH8 NM_002472.2(MYH8): c.1989G> A (p.Thr663=) single nucleotide variant Uncertain significance rs886052559 GRCh38 Chromosome 17, 10406956: 10406956
43 MYH8 NM_002472.2(MYH8): c.1989G> A (p.Thr663=) single nucleotide variant Uncertain significance rs886052559 GRCh37 Chromosome 17, 10310273: 10310273
44 MYH8 NM_002472.2(MYH8): c.1416+11T> G single nucleotide variant Uncertain significance rs186333848 GRCh38 Chromosome 17, 10412359: 10412359
45 MYH8 NM_002472.2(MYH8): c.1416+11T> G single nucleotide variant Uncertain significance rs186333848 GRCh37 Chromosome 17, 10315676: 10315676
46 MYH8 NM_002472.2(MYH8): c.1067C> T (p.Thr356Ile) single nucleotide variant Uncertain significance rs199851248 GRCh38 Chromosome 17, 10413982: 10413982
47 MYH8 NM_002472.2(MYH8): c.1067C> T (p.Thr356Ile) single nucleotide variant Uncertain significance rs199851248 GRCh37 Chromosome 17, 10317299: 10317299
48 MYH8 NM_002472.2(MYH8): c.846G> A (p.Ala282=) single nucleotide variant Uncertain significance rs577298464 GRCh38 Chromosome 17, 10414444: 10414444
49 MYH8 NM_002472.2(MYH8): c.846G> A (p.Ala282=) single nucleotide variant Uncertain significance rs577298464 GRCh37 Chromosome 17, 10317761: 10317761
50 MYH8 NM_002472.2(MYH8): c.675C> T (p.Ser225=) single nucleotide variant Uncertain significance rs146651214 GRCh37 Chromosome 17, 10318675: 10318675

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
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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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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