DA7
MCID: ART147
MIFTS: 45

Arthrogryposis, Distal, Type 7 (DA7)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin 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
Hecht Syndrome 57 12 20 58 72 29 6 44 70
Trismus-Pseudocamptodactyly Syndrome 57 12 20 58 72 36 13 39
Distal Arthrogryposis Type 7 12 20 58 15
Dutch-Kentucky Syndrome 12 20 58 72
Da7 57 12 72
Hecht-Beals Syndrome 12 58
Mouth, Inability to Open Completely, and Short Finger-Flexor Tendons 57
Mouth, Inability to Completely Open, and Short Finger-Flexor Tendons 12
Trismus Pseudocamptodactyly Syndrome 73
Arthrogryposis Distal Type 7 20
Arthrogryposis, Distal, 7 72

Characteristics:

Orphanet epidemiological data:

58
trismus-pseudocamptodactyly syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
arthrogryposis, distal, type 7:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111603
OMIM® 57 158300
OMIM Phenotypic Series 57 PS108120
KEGG 36 H00872
SNOMED-CT 67 8757006
ICD10 via Orphanet 33 Q68.8
UMLS via Orphanet 71 C0265226
Orphanet 58 ORPHA3377
MedGen 41 C0265226
UMLS 70 C0265226

Summaries for Arthrogryposis, Distal, Type 7

OMIM® : 57 The trismus-pseudocamptodactyly syndrome is a distal arthrogryposis characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volar flexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. In these patients, trismus complicates dental care, feeding during infancy, and intubation for anesthesia, and the pseudocamptodactyly impairs manual dexterity, with consequent occupational and social disability (summary by Veugelers et al., 2004). (158300) (Updated 20-May-2021)

MalaCards based summary : Arthrogryposis, Distal, Type 7, also known as hecht syndrome, is related to clubfoot and distal arthrogryposis. An important gene associated with Arthrogryposis, Distal, Type 7 is MYH8 (Myosin Heavy Chain 8), and among its related pathways/superpathways are Tight junction and Cardiac conduction. Affiliated tissues include eye and tongue, and related phenotypes are short stature and symphalangism affecting the phalanges of the hand

Disease Ontology : 12 A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has material basis in heterozygous mutation in MYH8 on chromosome 17p13.1.

GARD : 20 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.

KEGG : 36 Trismus-pseudocamptodactyly syndrome is a rare autosomal dominant distal arthrogryposis characterized by the inability to open the mouth (trismus) causing difficulty with mastication, and an unusual camptodactyly of the fingers that is apparent only while attempting dorsiflexion of the wrist (pseudocamptodactyly).

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Trismus Pseudocamptodactyly syndrome is a rare genetic condition. A defining feature is the inability to... more...

Related Diseases for Arthrogryposis, Distal, Type 7

Diseases in the Distal Arthrogryposis family:

Arthrogryposis, Distal, Type 1a Arthrogryposis, Distal, Type 5
Arthrogryposis, Distal, Type 6 Arthrogryposis, Distal, Type 3
Arthrogryposis, Distal, Type 2e Arthrogryposis, Distal, Type 7
Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 2a
Arthrogryposis, Distal, Type 2b1 Arthrogryposis, Distal, Type 4
Arthrogryposis, Distal, Type 1b Arthrogryposis, Distal, Type 5d
Arthrogryposis, Distal, Type 2b2 Arthrogryposis, Distal, Type 2b3
Arthrogryposis, Distal, Type 1c

Diseases related to Arthrogryposis, Distal, Type 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 clubfoot 30.3 TPM2 TNNT3 MYH8 MYH3
2 distal arthrogryposis 28.3 VEZF1 TPM2 TNNT3 TNNI2 PGRMC2 MYHAS
3 contractural arachnodactyly, congenital 11.6
4 carney complex variant 11.4
5 congenital contractures 10.2
6 carney complex, type 1 10.2
7 chromosome 2q35 duplication syndrome 10.2
8 ptosis 10.2
9 congenital amyoplasia 10.2
10 fissured tongue 10.1 TNNT3 TNNI2
11 arthrogryposis, distal, type 5d 10.1 TNNT3 TNNI2 MYH3
12 arthrogryposis, distal, type 1b 10.1 TNNT3 TNNI2
13 hyaline body myopathy 10.1 MYH8 MYH3
14 spondylocarpotarsal synostosis syndrome 10.1 TNNT3 TNNI2 MYH3
15 marfan syndrome 10.1
16 scoliosis 10.1
17 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.1 TPM2 TNNT3 TNNI2
18 hemophagocytic lymphohistiocytosis, familial, 1 10.1 MYH3 IGDCC3 FBN2
19 congenital fiber-type disproportion 10.0 TPM2 TNNT3 TNNI2
20 arthrogryposis, distal, type 2b1 10.0 TPM2 TNNT3 TNNI2 MYH3
21 lethal congenital contracture syndrome 4 10.0 TPM2 TNNT3 TNNI2 MYH3
22 arthrogryposis, distal, type 1a 10.0 TPM2 TNNT3 TNNI2 MYH3
23 marden-walker syndrome 9.9
24 ankylosis 9.9
25 temporomandibular ankylosis 9.9
26 congenital structural myopathy 9.9 TPM2 TNNT3
27 leukemia, acute lymphoblastic 9.9
28 leukemia 9.9
29 severe combined immunodeficiency 9.9
30 t-cell lymphoblastic leukemia/lymphoma 9.9
31 leukemia, t-cell, chronic 9.9
32 precursor t-cell acute lymphoblastic leukemia 9.9
33 multiple pterygium syndrome, escobar variant 9.9 TPM2 TNNT3 TNNI2 MYH8 MYH3
34 arthrogryposis, distal, type 2a 9.8 TPM2 TNNT3 TNNI2 MYH8 MYH3 FBN2
35 arthrogryposis, distal, type 6 9.8 PGRMC2 MYH3 FBN2 ENY2 DALIR C3orf18
36 arthrogryposis, distal, type 5 9.7 TPM2 TNNT3 TNNI2 MYH8 MYH3 FBN2
37 arthrogryposis, distal, type 4 9.5 VEZF1 PGRMC2 MYH3 FBN2 ENY2 DALIR
38 arthrogryposis, distal, type 10 9.4 TPM2 TNNT3 TNNI2 PRIM2 MYH3 FBXO8

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:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 symphalangism affecting the phalanges of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0009773
3 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
4 abnormality of the musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003011
5 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
6 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
7 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
8 macrocephaly 31 occasional (7.5%) HP:0000256
9 deep philtrum 31 occasional (7.5%) HP:0002002
10 tall chin 31 occasional (7.5%) HP:0400000
11 dysphagia 31 HP:0002015
12 metatarsus adductus 31 HP:0001840
13 micrognathia 31 HP:0000347
14 talipes equinovarus 31 HP:0001762
15 facial asymmetry 31 HP:0000324
16 trismus 31 HP:0000211
17 arthrogryposis multiplex congenita 31 HP:0002804
18 feeding difficulties 31 HP:0011968
19 hammertoe 31 HP:0001765
20 cutaneous syndactyly of toes 31 HP:0010621
21 distal arthrogryposis 31 HP:0005684

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis

Skeletal Feet:
metatarsus adductus
talipes equinovarus
hammer toes
soft tissue syndactyly of toes
downturning toes
more
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

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

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 (Updated 20-May-2021)

Drugs & Therapeutics for Arthrogryposis, Distal, Type 7

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Distal, Type 7

Cochrane evidence based reviews: hecht syndrome

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:

40
Eye, Tongue

Publications for Arthrogryposis, Distal, Type 7

Articles related to Arthrogryposis, Distal, Type 7:

(show all 31)
# Title Authors PMID Year
1
Surgical correction of trismus in a child with Hecht syndrome. 6 61 57
12800911 2003
2
Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly. 6 57
20949528 2010
3
Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation. 6 57
18049072 2008
4
Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. 6 57
17041932 2006
5
Mutation of perinatal myosin heavy chain associated with a Carney complex variant. 57 6
15282353 2004
6
Trismus pseudocamptodactyly syndrome: Dutch-Kentucky syndrome. 6 57
4443857 1974
7
The trismus-pseudocampylodactyly syndrome. 57 6
4837286 1974
8
Mutation of perinatal myosin heavy chain. 6
15590965 2004
9
A revised and extended classification of the distal arthrogryposes. 57
8923935 1996
10
The myxoma syndrome: an unusual entity. A family study. 6
1600999 1992
11
Trismus-pseudocamptodactyly syndrome in a Japanese family. 57
4064362 1985
12
Linkage analysis with the trismus-pseudocamptodactyly syndrome. 57
6953764 1982
13
The distal arthrogryposes: delineation of new entities--review and nosologic discussion. 57
7039311 1982
14
Trismus-pseudocamptodactyly syndrome. 57
6930468 1980
15
A family showing strongly reduced ability to open the mouth and limitation of some movements of the extremities. 57
5114676 1971
16
Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2. 61
33571691 2021
17
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing. 61
27196565 2016
18
Bilateral Coronoidectomy by Craniofacial Approach for Hecht Syndrome-Related Trismus. 61
26335328 2015
19
Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report. 61
25493702 2015
20
Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder. 61
23595522 2013
21
Beals-Hecht syndrome and choroidal neovascularization. 61
20714360 2010
22
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. 61
19006240 2009
23
[Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome]. 61
15912465 2005
24
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. 61
12383326 2002
25
Beals-Hecht syndrome. 61
12144083 2002
26
Tracheal intubation in a child with trismus pseudocamptodactyly (Hecht) syndrome. 61
10434225 1999
27
[Beals-Hecht Syndrome: report of a neonatal case]. 61
14688984 1995
28
Trismus-pseudocamptodctyly syndrome: report of one case. 61
8184690 1994
29
[Trismus-pseudocamptodactyly syndrome: presentation and genealogy of a new European case]. 61
1280974 1992
30
[Congenital contractural arachnodactyly (Beals-Hecht syndrome). Report of a familial case]. 61
1785753 1991
31
[The Beals-Hecht syndrome (congenital contractural arachnodactyly) revealed in a neonate]. 61
3200664 1988

Variations for Arthrogryposis, Distal, Type 7

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

6 (show top 50) (show all 117)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYH8 , MYHAS NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln) SNV Pathogenic 14136 rs121434590 GRCh37: 17:10310241-10310241
GRCh38: 17:10406924-10406924
2 MYH8 , MYHAS NM_002472.3(MYH8):c.977T>C (p.Ile326Thr) SNV Uncertain significance 634583 rs34124921 GRCh37: 17:10317540-10317540
GRCh38: 17:10414223-10414223
3 MYH8 , MYHAS NM_002472.3(MYH8):c.4042G>A (p.Glu1348Lys) SNV Uncertain significance 211564 rs140562514 GRCh37: 17:10301897-10301897
GRCh38: 17:10398580-10398580
4 MYH8 , MYHAS NM_002472.3(MYH8):c.5539G>A (p.Glu1847Lys) SNV Uncertain significance 321622 rs757938047 GRCh37: 17:10295888-10295888
GRCh38: 17:10392571-10392571
5 MYH8 , MYHAS NM_002472.3(MYH8):c.3340T>C (p.Leu1114=) SNV Uncertain significance 321638 rs142711931 GRCh37: 17:10304191-10304191
GRCh38: 17:10400874-10400874
6 MYH8 , MYHAS NM_002472.3(MYH8):c.5459C>T (p.Ala1820Val) SNV Uncertain significance 785554 rs148625172 GRCh37: 17:10296152-10296152
GRCh38: 17:10392835-10392835
7 MYH8 , MYHAS NM_002472.3(MYH8):c.797T>C (p.Ile266Thr) SNV Uncertain significance 983064 GRCh37: 17:10318441-10318441
GRCh38: 17:10415124-10415124
8 MYH8 , MYHAS NM_002472.3(MYH8):c.578G>A (p.Arg193His) SNV Uncertain significance 321655 rs145863180 GRCh37: 17:10318859-10318859
GRCh38: 17:10415542-10415542
9 MYH8 , MYHAS NM_002472.3(MYH8):c.3532C>T (p.Arg1178Cys) SNV Uncertain significance 211563 rs142073810 GRCh37: 17:10303910-10303910
GRCh38: 17:10400593-10400593
10 MYH8 , MYHAS NM_002472.3(MYH8):c.2791G>A (p.Glu931Lys) SNV Uncertain significance 321642 rs142137577 GRCh37: 17:10305000-10305000
GRCh38: 17:10401683-10401683
11 MYH8 , MYHAS NM_002472.3(MYH8):c.3320del (p.Leu1107fs) Deletion Uncertain significance 397646 rs751871946 GRCh37: 17:10304211-10304211
GRCh38: 17:10400894-10400894
12 MYH8 , MYHAS NM_002472.3(MYH8):c.5543G>A (p.Arg1848Gln) SNV Uncertain significance 884351 GRCh37: 17:10295884-10295884
GRCh38: 17:10392567-10392567
13 MYH8 , MYHAS NM_002472.3(MYH8):c.3754T>C (p.Cys1252Arg) SNV Uncertain significance 884407 GRCh37: 17:10302968-10302968
GRCh38: 17:10399651-10399651
14 MYH8 , MYHAS NM_002472.3(MYH8):c.3680T>G (p.Leu1227Arg) SNV Uncertain significance 884408 GRCh37: 17:10303762-10303762
GRCh38: 17:10400445-10400445
15 MYH8 , MYHAS NM_002472.3(MYH8):c.3643C>A (p.Arg1215=) SNV Uncertain significance 884409 GRCh37: 17:10303799-10303799
GRCh38: 17:10400482-10400482
16 MYH8 , MYHAS NM_002472.3(MYH8):c.3469G>A (p.Gly1157Ser) SNV Uncertain significance 884410 GRCh37: 17:10303973-10303973
GRCh38: 17:10400656-10400656
17 MYH8 , MYHAS NM_002472.3(MYH8):c.1587+4G>A SNV Uncertain significance 884472 GRCh37: 17:10314090-10314090
GRCh38: 17:10410773-10410773
18 MYH8 , MYHAS NM_002472.3(MYH8):c.1583A>G (p.Glu528Gly) SNV Uncertain significance 884473 GRCh37: 17:10314098-10314098
GRCh38: 17:10410781-10410781
19 MYH8 , MYHAS NM_002472.3(MYH8):c.1150G>A (p.Ala384Thr) SNV Uncertain significance 884474 GRCh37: 17:10316043-10316043
GRCh38: 17:10412726-10412726
20 MYH8 , MYHAS NM_002472.3(MYH8):c.172G>C (p.Glu58Gln) SNV Uncertain significance 884535 GRCh37: 17:10323373-10323373
GRCh38: 17:10420056-10420056
21 MYH8 , MYHAS NM_002472.3(MYH8):c.76C>A (p.Arg26=) SNV Uncertain significance 884536 GRCh37: 17:10323469-10323469
GRCh38: 17:10420152-10420152
22 MYH8 , MYHAS NM_002472.3(MYH8):c.59G>A (p.Arg20Gln) SNV Uncertain significance 884537 GRCh37: 17:10323486-10323486
GRCh38: 17:10420169-10420169
23 MYH8 , MYHAS NM_002472.3(MYH8):c.-31+9T>C SNV Uncertain significance 884538 GRCh37: 17:10324971-10324971
GRCh38: 17:10421654-10421654
24 MYH8 , MYHAS NM_002472.3(MYH8):c.1147+14C>G SNV Uncertain significance 885410 GRCh37: 17:10317205-10317205
GRCh38: 17:10413888-10413888
25 MYH8 , MYHAS NM_002472.3(MYH8):c.1054A>C (p.Ile352Leu) SNV Uncertain significance 885411 GRCh37: 17:10317312-10317312
GRCh38: 17:10413995-10413995
26 MYH8 , MYHAS NM_002472.3(MYH8):c.1034C>G (p.Thr345Ser) SNV Uncertain significance 885412 GRCh37: 17:10317332-10317332
GRCh38: 17:10414015-10414015
27 MYH8 , MYHAS NM_002472.3(MYH8):c.959A>T (p.Glu320Val) SNV Uncertain significance 885413 GRCh37: 17:10317558-10317558
GRCh38: 17:10414241-10414241
28 MYH8 , MYHAS NM_002472.3(MYH8):c.-93T>G SNV Uncertain significance 885472 GRCh37: 17:10325265-10325265
GRCh38: 17:10421948-10421948
29 MYH8 , MYHAS NM_002472.3(MYH8):c.5194A>G (p.Lys1732Glu) SNV Uncertain significance 886370 GRCh37: 17:10296500-10296500
GRCh38: 17:10393183-10393183
30 MYH8 , MYHAS NM_002472.3(MYH8):c.5115C>T (p.Ala1705=) SNV Uncertain significance 886371 GRCh37: 17:10297617-10297617
GRCh38: 17:10394300-10394300
31 MYH8 , MYHAS NM_002472.3(MYH8):c.5112C>A (p.Ile1704=) SNV Uncertain significance 886372 GRCh37: 17:10297620-10297620
GRCh38: 17:10394303-10394303
32 MYH8 , MYHAS NM_002472.3(MYH8):c.5025A>G (p.Ala1675=) SNV Uncertain significance 886373 GRCh37: 17:10297707-10297707
GRCh38: 17:10394390-10394390
33 MYH8 , MYHAS NM_002472.3(MYH8):c.3423C>T (p.Asp1141=) SNV Uncertain significance 886431 GRCh37: 17:10304019-10304019
GRCh38: 17:10400702-10400702
34 MYH8 , MYHAS NM_002472.3(MYH8):c.3408G>A (p.Glu1136=) SNV Uncertain significance 886432 GRCh37: 17:10304034-10304034
GRCh38: 17:10400717-10400717
35 MYH8 , MYHAS NM_002472.3(MYH8):c.4878T>C (p.Asn1626=) SNV Uncertain significance 887367 GRCh37: 17:10298534-10298534
GRCh38: 17:10395217-10395217
36 MYH8 , MYHAS NM_002472.3(MYH8):c.3151C>G (p.Leu1051Val) SNV Uncertain significance 887436 GRCh37: 17:10304466-10304466
GRCh38: 17:10401149-10401149
37 MYH8 , MYHAS NM_002472.3(MYH8):c.2439A>G (p.Ala813=) SNV Uncertain significance 887437 GRCh37: 17:10307896-10307896
GRCh38: 17:10404579-10404579
38 MYH8 , MYHAS NM_002472.3(MYH8):c.2317C>T (p.Leu773=) SNV Uncertain significance 887438 GRCh37: 17:10309473-10309473
GRCh38: 17:10406156-10406156
39 MYH8 , MYHAS NM_002472.3(MYH8):c.851G>T (p.Arg284Ile) SNV Uncertain significance 887497 GRCh37: 17:10317756-10317756
GRCh38: 17:10414439-10414439
40 MYH8 , MYHAS NM_002472.3(MYH8):c.676G>A (p.Ala226Thr) SNV Uncertain significance 887498 GRCh37: 17:10318674-10318674
GRCh38: 17:10415357-10415357
41 MYH8 , MYHAS NM_002472.3(MYH8):c.4147A>G (p.Ile1383Val) SNV Uncertain significance 887563 GRCh37: 17:10301792-10301792
GRCh38: 17:10398475-10398475
42 MYH8 , MYHAS NM_002472.3(MYH8):c.3918G>A (p.Arg1306=) SNV Uncertain significance 887564 GRCh37: 17:10302148-10302148
GRCh38: 17:10398831-10398831
43 MYH8 , MYHAS NM_002472.3(MYH8):c.1899T>C (p.Asp633=) SNV Uncertain significance 887624 GRCh37: 17:10312480-10312480
GRCh38: 17:10409163-10409163
44 MYH8 , MYHAS NM_002472.3(MYH8):c.1803G>T (p.Lys601Asn) SNV Uncertain significance 887625 GRCh37: 17:10312690-10312690
GRCh38: 17:10409373-10409373
45 MYH8 , MYHAS NM_002472.3(MYH8):c.399G>T (p.Trp133Cys) SNV Uncertain significance 887680 GRCh37: 17:10322074-10322074
GRCh38: 17:10418757-10418757
46 MYH8 , MYHAS NM_002472.3(MYH8):c.304C>G (p.Pro102Ala) SNV Uncertain significance 887681 GRCh37: 17:10322254-10322254
GRCh38: 17:10418937-10418937
47 MYH8 , MYHAS NM_002472.3(MYH8):c.277A>G (p.Met93Val) SNV Uncertain significance 887682 GRCh37: 17:10322281-10322281
GRCh38: 17:10418964-10418964
48 MYH8 , MYHAS NM_002472.3(MYH8):c.254C>T (p.Pro85Leu) SNV Uncertain significance 887683 GRCh37: 17:10322304-10322304
GRCh38: 17:10418987-10418987
49 MYH8 , MYHAS NM_002472.3(MYH8):c.*33G>C SNV Uncertain significance 888564 GRCh37: 17:10293738-10293738
GRCh38: 17:10390421-10390421
50 MYH8 , MYHAS NM_002472.3(MYH8):c.*19A>G SNV Uncertain significance 888565 GRCh37: 17:10293752-10293752
GRCh38: 17:10390435-10390435

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

72
# Symbol AA change Variation ID SNP ID
1 MYH8 p.Arg674Gln VAR_019810 rs121434590

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:

36
# Name Kegg Source Accession
1 Tight junction hsa04530

GO Terms for Arthrogryposis, Distal, Type 7

Cellular components related to Arthrogryposis, Distal, Type 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myosin filament GO:0032982 9.16 MYH8 MYH3
2 muscle myosin complex GO:0005859 8.96 MYH8 MYH3
3 troponin complex GO:0005861 8.62 TNNT3 TNNI2

Biological processes related to Arthrogryposis, Distal, Type 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.46 TPM2 TNNT3 TNNI2 MYH8
2 sarcomere organization GO:0045214 9.37 TNNT3 MYH3
3 regulation of muscle contraction GO:0006937 9.32 TNNT3 TNNI2
4 regulation of ATPase activity GO:0043462 9.26 TPM2 TNNT3
5 skeletal muscle contraction GO:0003009 9.26 TNNT3 TNNI2 MYH8 MYH3
6 muscle filament sliding GO:0030049 9.02 TPM2 TNNT3 TNNI2 MYH8 MYH3

Molecular functions related to Arthrogryposis, Distal, Type 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.35 TPM2 TNNT3 TNNI2 MYH8 MYH3
2 microfilament motor activity GO:0000146 9.16 MYH8 MYH3
3 myosin phosphatase activity GO:0017018 8.62 MYH8 MYH3

Sources for Arthrogryposis, Distal, Type 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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