DA1A
MCID: ART144
MIFTS: 49

Arthrogryposis, Distal, Type 1a (DA1A)

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 1a

MalaCards integrated aliases for Arthrogryposis, Distal, Type 1a:

Name: Arthrogryposis, Distal, Type 1a 57
Amcd1 57 53 25 75
Distal Arthrogryposis Type 1a 53 29 6
Distal Arthrogryposis Type 1b 53 29 6
Da1a 57 53 75
Arthrogryposis Multiplex Congenita, Distal, Type 1 57 13
Arthrogryposis Multiplex Congenita Distal Type 1 53 75
Arthrogryposis, Distal, Type 1 57 25
Distal Arthrogryposis Type 1 53 25
Digitotalar Dysmorphism 53 73
Da1 57 25
Arthrogryposis Multiplex Congenita, Distal, Type I; Amcd1 57
Arthrogryposis Multiplex Congenita, Distal, Type I 57
Arthrogryposis Multiplex Congenita, Distal Type 1 76
Arthrogryposis, Distal, Type 1; Da1 57
Arthrogryposis Multiplex Congenita 75
Arthrogryposis, Distal, 1a 75
Arthrogryposis 73
Amc 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
marked intrafamilial and interfamilial variability
most frequently affected joints - hands (98%) and feet (88%)
genetic heterogeneity (see 601680)


HPO:

32
arthrogryposis, distal, type 1a:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Arthrogryposis, Distal, Type 1a

OMIM : 57 In general, the distal arthrogryposes are a group of disorders characterized by contractures mainly involving the distal parts of the limbs. The hands have a characteristic position with medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly, and the feet have deformities. Contractures at other joints are variable; there are no associated visceral anomalies, and intelligence is normal. Classically, DA was defined as being without overt neurologic or muscle disease (Lin et al., 1977 and Hall et al., 1982), although more recent evidence suggests that DA1A due to TPM2 mutations results from muscle dysfunction (Robinson et al., 2007; Mokbel et al., 2013; Davidson et al., 2013). The prototypic distal arthrogryposis is type 1 (DA1), which is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. While the pattern of affected joints is consistent, the degree to which the joints are affected is highly variable, with equinovarus deformities ranging from mild to severe and hand involvement ranging from isolated hypoplasia of the distal interphalangeal crease of the fifth digit to severely clenched fists and ulnar deviation of the wrist. The various phenotypic forms of distal arthrogryposis are classified hierarchically according to the proportion of features they share with one another and are designated DA1 through DA10 (summary by Bamshad et al., 2009). Bamshad et al. (1996) revised the classification by Hall et al. (1982) of the common mendelian arthrogryposis syndromes. Krakowiak et al. (1997) provided a useful classification of the distal arthrogryposes. (108120)

MalaCards based summary : Arthrogryposis, Distal, Type 1a, also known as amcd1, is related to distal arthrogryposis and digitotalar dysmorphism, and has symptoms including muscle weakness, arthralgia and myalgia. An important gene associated with Arthrogryposis, Distal, Type 1a is TPM2 (Tropomyosin 2), and among its related pathways/superpathways is Striated Muscle Contraction. The drugs Olanzapine and Aripiprazole have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and skin, and related phenotypes are scoliosis and cryptorchidism

Genetics Home Reference : 25 Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). Clubfoot, which is an inward- and upward-turning foot, is also commonly seen with distal arthrogryposis type 1. The specific hand and foot abnormalities vary among affected individuals. However, this condition typically does not cause any signs and symptoms affecting other parts of the body.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1146Disease definitionDigitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominantcongenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term).Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 75 Arthrogryposis, distal, 1A: 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. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected.

Wikipedia : 76 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

Related Diseases for Arthrogryposis, Distal, Type 1a

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 9 Arthrogryposis, Distal, Type 2e
Arthrogryposis, Distal, Type 7 Arthrogryposis, Distal, Type 8
Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 2a
Arthrogryposis, Distal, Type 4 Arthrogryposis, Distal, Type 1b
Arthrogryposis, Distal, Type 5d

Diseases related to Arthrogryposis, Distal, Type 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 distal arthrogryposis 34.1 TPM2 MYBPC1
2 digitotalar dysmorphism 31.9 TPM2 MYBPC1
3 clubfoot 30.7 TPM2 MYBPC1
4 myasthenia gravis 30.3 RYR1 RAPSN
5 neuromuscular disease 29.9 SMN1 RYR1
6 peripheral nervous system disease 29.6 SMN1 RAPSN
7 arthrogryposis multiplex congenita, neurogenic type 13.0
8 arthrogryposis multiplex congenita, neurogenic, with myelin defect 12.7
9 arthrogryposis multiplex congenita whistling face 12.6
10 autosomal recessive myogenic arthrogryposis multiplex congenita 12.5
11 arthrogryposis multiplex congenita cns calcification 12.3
12 antenatal multiminicore disease with arthrogryposis multiplex congenita 12.3
13 mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 12.3
14 arthrogryposis, renal dysfunction, and cholestasis 1 12.3
15 spinal muscular atrophy, x-linked 2 12.2
16 fetal akinesia deformation sequence 12.2
17 arthrogryposis, distal, type 3 12.1
18 illum syndrome 12.0
19 bruck syndrome 11.7
20 boylan dew greco syndrome 11.7
21 massa casaer ceulemans syndrome 11.7
22 lethal congenital contracture syndrome 8 11.5
23 glycine encephalopathy with normal serum glycine 11.5
24 muscular dystrophy, congenital, producing arthrogryposis 11.3
25 bruck syndrome 1 11.3
26 multiple pterygium syndrome, escobar variant 11.3
27 spinal muscular atrophy, type i, with congenital bone fractures 11.3
28 arthrogryposis, renal dysfunction, and cholestasis 2 11.3
29 lethal congenital contracture syndrome 7 11.3
30 spinal muscular atrophy with congenital bone fractures 2 11.3
31 arthrogryposis-like hand anomaly and sensorineural deafness 11.3
32 intellectual disability-developmental delay-contractures syndrome 11.3
33 arthrogryposis epileptic seizures migrational brain disorder 11.3
34 escobar syndrome, type b 11.3
35 alkuraya-kucinskas syndrome 11.3
36 arthrogryposis, distal, type 1b 11.2
37 arthrogryposis, distal, type 5 11.1
38 arthrogryposis, distal, type 5d 11.1
39 ataxia-microcephaly-cataract syndrome 11.0
40 scoliosis 10.5
41 spinal muscular atrophy 10.4
42 muscular atrophy 10.4
43 brittle bone disorder 10.3
44 alacrima, achalasia, and mental retardation syndrome 10.3
45 neuropathy 10.3
46 muscular dystrophy 10.3
47 myasthenia gravis congenital 10.3
48 gastroschisis 10.2
49 muscular dystrophy, congenital, lmna-related 10.2
50 neurogenic bladder 10.2

Graphical network of the top 20 diseases related to Arthrogryposis, Distal, Type 1a:



Diseases related to Arthrogryposis, Distal, Type 1a

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 1a

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
talipes equinovarus
calcaneovalgus deformities
vertical talus

Skeletal Hands:
absent distal interphalangeal creases
tightly clenched fists (neonate)
camptodactyly (adult)
ulnar deviation (adult)
single transverse palmar creases

Neurologic Central Nervous System:
normal intelligence

Skeletal Spine:
mild scoliosis

Skeletal Pelvis:
decreased hip abduction
hip flexion contractures
congenital hip dislocations

Skin Nails Hair Skin:
absent distal interphalangeal creases
single transverse palmar creases

Chest Ribs Sternum Clavicles And Scapulae:
stiff shoulders

Skeletal Limbs:
elbow flexion contractures
knee flexion contractures


Clinical features from OMIM:

108120

Human phenotypes related to Arthrogryposis, Distal, Type 1a:

32 (show all 33)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 hallmark (90%) HP:0002650
2 cryptorchidism 32 HP:0000028
3 lymphedema 32 hallmark (90%) HP:0001004
4 abnormality of the pleura 32 hallmark (90%) HP:0002103
5 elbow flexion contracture 32 HP:0002987
6 arthrogryposis multiplex congenita 32 hallmark (90%) HP:0002804
7 congenital hip dislocation 32 HP:0001374
8 talipes equinovarus 32 HP:0001762
9 hip dislocation 32 hallmark (90%) HP:0002827
10 depressed nasal ridge 32 hallmark (90%) HP:0000457
11 low-set, posteriorly rotated ears 32 hallmark (90%) HP:0000368
12 polyhydramnios 32 hallmark (90%) HP:0001561
13 adducted thumb 32 HP:0001181
14 abnormality of the gastric mucosa 32 hallmark (90%) HP:0004295
15 ulnar deviation of finger 32 hallmark (90%) HP:0009465
16 trismus 32 HP:0000211
17 hip contracture 32 HP:0003273
18 aplasia/hypoplasia of the lungs 32 hallmark (90%) HP:0006703
19 talipes 32 hallmark (90%) HP:0001883
20 congenital diaphragmatic hernia 32 hallmark (90%) HP:0000776
21 single transverse palmar crease 32 HP:0000954
22 rocker bottom foot 32 HP:0001838
23 abnormality of the wrist 32 hallmark (90%) HP:0003019
24 knee flexion contracture 32 HP:0006380
25 hand clenching 32 HP:0001188
26 gastroschisis 32 hallmark (90%) HP:0001543
27 decreased hip abduction 32 HP:0003184
28 camptodactyly 32 HP:0012385
29 absent distal interphalangeal creases 32 HP:0001032
30 joint contracture of the hand 32 HP:0009473
31 stiff shoulders 32 HP:0009742
32 calcaneovalgus deformity 32 HP:0001848
33 ulnar deviation of the hand or of fingers of the hand 32 HP:0001193

UMLS symptoms related to Arthrogryposis, Distal, Type 1a:


muscle weakness, arthralgia, myalgia, muscle rigidity, muscle cramp, metatarsalgia, muscle spasticity

GenomeRNAi Phenotypes related to Arthrogryposis, Distal, Type 1a according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.55 MET
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.55 RYR1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.55 RYR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.55 RYR1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.55 MET
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.55 RYR1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.55 MET
8 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.55 MET
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.55 RYR1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.55 MET
11 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.55 MET
12 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.55 RYR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.55 MET
14 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.55 MET RYR1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.55 MET
16 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.55 RYR1

MGI Mouse Phenotypes related to Arthrogryposis, Distal, Type 1a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 ADGRG6 CNTNAP1 MET RAPSN RYR1

Drugs & Therapeutics for Arthrogryposis, Distal, Type 1a

Drugs for Arthrogryposis, Distal, Type 1a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
2
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
3 Tranquilizing Agents Phase 4,Phase 1
4 Psychotropic Drugs Phase 4,Phase 1
5 Central Nervous System Depressants Phase 4,Phase 1
6 Antipsychotic Agents Phase 4,Phase 1
7 Neurotransmitter Agents Phase 4,Phase 1
8 Peripheral Nervous System Agents Phase 4
9 Serotonin Agents Phase 4
10 Gastrointestinal Agents Phase 4
11 Serotonin Uptake Inhibitors Phase 4
12 Autonomic Agents Phase 4
13 Neurotransmitter Uptake Inhibitors Phase 4
14 Antiemetics Phase 4
15
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
16
Cocaine Approved, Illicit Phase 1 50-36-2 5760 446220
17
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
18 Dopamine Antagonists Phase 1
19 decanoic acid Phase 1
20 Flupenthixol decanoate Phase 1
21 Dopamine Agents Phase 1
22
Protein C Approved Not Applicable
23
Adenosine Approved, Investigational 58-61-7 60961
24
Serine Approved, Nutraceutical Not Applicable 56-45-1 5951
25 Trypsin Inhibitors Not Applicable
26 Serine Proteinase Inhibitors Not Applicable
27 HIV Protease Inhibitors Not Applicable
28
protease inhibitors Not Applicable
29 Alpha 1-Antitrypsin Not Applicable
30 Protein C Inhibitor Not Applicable
31 Vasodilator Agents
32 Anti-Arrhythmia Agents
33 Analgesics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia Completed NCT00103571 Phase 4 Olanzapine;Aripiprazole
2 Infusion Laboratory: Protocol 5 (Flupenthixol) - 14 Unknown status NCT00000349 Phase 1 Flupenthixol
3 Polygen Defi-Alpha: Genetic Polymorphisms Study in Children With Alpha-1 Antitrypsin Deficiency, Included in the DEFI-ALPHA Cohort Completed NCT01862211 Not Applicable
4 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
5 Accuracy of Spircare Device as Compared to the Conventional Plethysmograph Enrolling by invitation NCT03056066
6 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Not yet recruiting NCT01306994
7 Epidemiology Study of Malaria Transmission Intensity in Sub-Saharan Africa Completed NCT01954264 Not Applicable

Search NIH Clinical Center for Arthrogryposis, Distal, Type 1a

Genetic Tests for Arthrogryposis, Distal, Type 1a

Genetic tests related to Arthrogryposis, Distal, Type 1a:

# Genetic test Affiliating Genes
1 Distal Arthrogryposis Type 1a 29 TPM2
2 Distal Arthrogryposis Type 1b 29 MYBPC1

Anatomical Context for Arthrogryposis, Distal, Type 1a

MalaCards organs/tissues related to Arthrogryposis, Distal, Type 1a:

41
Lung, Bone, Skin, Brain, Liver, Colon, Eye

Publications for Arthrogryposis, Distal, Type 1a

Articles related to Arthrogryposis, Distal, Type 1a:

# Title Authors Year
1
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. ( 26374086 )
2015
2
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. ( 21531865 )
2011
3
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. ( 20045868 )
2010
4
Prenatal diagnosis of distal arthrogryposis type 1. ( 10384996 )
1999
5
Distal arthrogryposis type 1: clinical analysis of a large kindred. ( 8923936 )
1996

Variations for Arthrogryposis, Distal, Type 1a

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, Type 1a:

75
# Symbol AA change Variation ID SNP ID
1 TPM2 p.Arg91Gly VAR_016086 rs104894127
2 TPM2 p.Arg133Trp VAR_070981 rs137853305
3 TPM2 p.Gln93Arg VAR_071490 rs199476151
4 TPM2 p.Glu117Lys VAR_071491 rs104894129
5 TPM2 p.Tyr261Cys VAR_071498

ClinVar genetic disease variations for Arthrogryposis, Distal, Type 1a:

6 (show top 50) (show all 384)
# Gene Variation Type Significance SNP ID Assembly Location
1 SH3TC2 NM_024577.3(SH3TC2): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359890 GRCh37 Chromosome 5, 148422281: 148422281
2 TPM2 NM_003289.3(TPM2): c.271C> G (p.Arg91Gly) single nucleotide variant Pathogenic rs104894127 GRCh37 Chromosome 9, 35685747: 35685747
3 TPM2 NM_003289.3(TPM2): c.271C> G (p.Arg91Gly) single nucleotide variant Pathogenic rs104894127 GRCh38 Chromosome 9, 35685750: 35685750
4 TPM2 NM_003289.3(TPM2): c.349G> A (p.Glu117Lys) single nucleotide variant Pathogenic rs104894129 GRCh37 Chromosome 9, 35685669: 35685669
5 TPM2 NM_003289.3(TPM2): c.349G> A (p.Glu117Lys) single nucleotide variant Pathogenic rs104894129 GRCh38 Chromosome 9, 35685672: 35685672
6 TPM2 NM_003289.3(TPM2): c.415_417delGAG (p.Glu139del) deletion Pathogenic rs199476153 GRCh37 Chromosome 9, 35685506: 35685508
7 TPM2 NM_003289.3(TPM2): c.415_417delGAG (p.Glu139del) deletion Pathogenic rs199476153 GRCh38 Chromosome 9, 35685509: 35685511
8 TNNT3 NM_006757.3(TNNT3): c.636T> C (p.Ile212=) single nucleotide variant Benign/Likely benign rs16927166 GRCh38 Chromosome 11, 1934874: 1934874
9 TNNT3 NM_006757.3(TNNT3): c.762C> T (p.Gly254=) single nucleotide variant Benign/Likely benign rs4727 GRCh37 Chromosome 11, 1959707: 1959707
10 TNNT3 NM_006757.3(TNNT3): c.762C> T (p.Gly254=) single nucleotide variant Benign/Likely benign rs4727 GRCh38 Chromosome 11, 1938477: 1938477
11 MYH3 NM_002470.3(MYH3): c.2926-12A> G single nucleotide variant Benign/Likely benign rs2285473 GRCh38 Chromosome 17, 10639486: 10639486
12 MYH3 NM_002470.3(MYH3): c.2926-12A> G single nucleotide variant Benign/Likely benign rs2285473 GRCh37 Chromosome 17, 10542803: 10542803
13 MYH3 NM_002470.3(MYH3): c.2883C> A (p.Thr961=) single nucleotide variant Conflicting interpretations of pathogenicity rs144338240 GRCh38 Chromosome 17, 10639602: 10639602
14 MYH3 NM_002470.3(MYH3): c.2883C> A (p.Thr961=) single nucleotide variant Conflicting interpretations of pathogenicity rs144338240 GRCh37 Chromosome 17, 10542919: 10542919
15 MYH3 NM_002470.3(MYH3): c.2683-4T> C single nucleotide variant Likely benign rs182229640 GRCh37 Chromosome 17, 10543123: 10543123
16 MYH3 NM_002470.3(MYH3): c.2683-4T> C single nucleotide variant Likely benign rs182229640 GRCh38 Chromosome 17, 10639806: 10639806
17 MYH3 NM_002470.3(MYH3): c.2166-15A> G single nucleotide variant Benign/Likely benign rs876660 GRCh37 Chromosome 17, 10544018: 10544018
18 MYH3 NM_002470.3(MYH3): c.2166-15A> G single nucleotide variant Benign/Likely benign rs876660 GRCh38 Chromosome 17, 10640701: 10640701
19 MYH3 NM_002470.3(MYH3): c.1581+13A> C single nucleotide variant Benign/Likely benign rs2285468 GRCh37 Chromosome 17, 10546130: 10546130
20 MYH3 NM_002470.3(MYH3): c.1581+13A> C single nucleotide variant Benign/Likely benign rs2285468 GRCh38 Chromosome 17, 10642813: 10642813
21 MYH3 NM_002470.3(MYH3): c.774G> A (p.Lys258=) single nucleotide variant Likely benign rs16943598 GRCh37 Chromosome 17, 10550705: 10550705
22 MYH3 NM_002470.3(MYH3): c.774G> A (p.Lys258=) single nucleotide variant Likely benign rs16943598 GRCh38 Chromosome 17, 10647388: 10647388
23 MYH3 NM_002470.3(MYH3): c.690C> G (p.Ala230=) single nucleotide variant Likely benign rs147148934 GRCh37 Chromosome 17, 10551919: 10551919
24 MYH3 NM_002470.3(MYH3): c.690C> G (p.Ala230=) single nucleotide variant Likely benign rs147148934 GRCh38 Chromosome 17, 10648602: 10648602
25 MYH3 NM_002470.3(MYH3): c.349-7C> T single nucleotide variant Likely benign rs114366800 GRCh37 Chromosome 17, 10554992: 10554992
26 MYH3 NM_002470.3(MYH3): c.349-7C> T single nucleotide variant Likely benign rs114366800 GRCh38 Chromosome 17, 10651675: 10651675
27 TNNI2 NM_003282.3(TNNI2): c.54G> C (p.Leu18=) single nucleotide variant Conflicting interpretations of pathogenicity rs181679318 GRCh37 Chromosome 11, 1861671: 1861671
28 TNNI2 NM_003282.3(TNNI2): c.54G> C (p.Leu18=) single nucleotide variant Conflicting interpretations of pathogenicity rs181679318 GRCh38 Chromosome 11, 1840441: 1840441
29 TPM2 NM_003289.3(TPM2): c.726C> T (p.Ala242=) single nucleotide variant Conflicting interpretations of pathogenicity rs76414035 GRCh37 Chromosome 9, 35684289: 35684289
30 TPM2 NM_003289.3(TPM2): c.726C> T (p.Ala242=) single nucleotide variant Conflicting interpretations of pathogenicity rs76414035 GRCh38 Chromosome 9, 35684292: 35684292
31 TPM2 NM_003289.3(TPM2): c.*99A> G single nucleotide variant Uncertain significance rs879505630 GRCh37 Chromosome 9, 35683057: 35683057
32 TPM2 NM_003289.3(TPM2): c.*99A> G single nucleotide variant Uncertain significance rs879505630 GRCh38 Chromosome 9, 35683060: 35683060
33 TPM2 NM_003289.3(TPM2): c.813C> T (p.Ser271=) single nucleotide variant Uncertain significance rs201215303 GRCh37 Chromosome 9, 35683198: 35683198
34 TPM2 NM_003289.3(TPM2): c.813C> T (p.Ser271=) single nucleotide variant Uncertain significance rs201215303 GRCh38 Chromosome 9, 35683201: 35683201
35 TPM2 NM_003289.3(TPM2): c.564-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs763429317 GRCh37 Chromosome 9, 35684813: 35684813
36 TPM2 NM_003289.3(TPM2): c.564-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs763429317 GRCh38 Chromosome 9, 35684816: 35684816
37 TNNI2 NM_003282.3(TNNI2): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs778403065 GRCh37 Chromosome 11, 1861849: 1861849
38 TNNI2 NM_003282.3(TNNI2): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs778403065 GRCh38 Chromosome 11, 1840619: 1840619
39 MYH3 NM_002470.3(MYH3): c.4172+9C> T single nucleotide variant Likely benign rs116028239 GRCh38 Chromosome 17, 10635358: 10635358
40 MYH3 NM_002470.3(MYH3): c.4172+9C> T single nucleotide variant Likely benign rs116028239 GRCh37 Chromosome 17, 10538675: 10538675
41 MYH3 NM_002470.3(MYH3): c.3883A> G (p.Lys1295Glu) single nucleotide variant Uncertain significance rs886052580 GRCh38 Chromosome 17, 10635827: 10635827
42 MYH3 NM_002470.3(MYH3): c.3883A> G (p.Lys1295Glu) single nucleotide variant Uncertain significance rs886052580 GRCh37 Chromosome 17, 10539144: 10539144
43 MYH3 NM_002470.3(MYH3): c.3731C> T (p.Ala1244Val) single nucleotide variant Uncertain significance rs140074626 GRCh38 Chromosome 17, 10637934: 10637934
44 MYH3 NM_002470.3(MYH3): c.3731C> T (p.Ala1244Val) single nucleotide variant Uncertain significance rs140074626 GRCh37 Chromosome 17, 10541251: 10541251
45 MYH3 NM_002470.3(MYH3): c.3612T> C (p.Leu1204=) single nucleotide variant Uncertain significance rs146773743 GRCh38 Chromosome 17, 10638160: 10638160
46 MYH3 NM_002470.3(MYH3): c.3612T> C (p.Leu1204=) single nucleotide variant Uncertain significance rs146773743 GRCh37 Chromosome 17, 10541477: 10541477
47 MYH3 NM_002470.3(MYH3): c.3609G> A (p.Glu1203=) single nucleotide variant Uncertain significance rs368299686 GRCh38 Chromosome 17, 10638163: 10638163
48 MYH3 NM_002470.3(MYH3): c.3609G> A (p.Glu1203=) single nucleotide variant Uncertain significance rs368299686 GRCh37 Chromosome 17, 10541480: 10541480
49 MYH3 NM_002470.3(MYH3): c.3594G> A (p.Ala1198=) single nucleotide variant Likely benign rs139978727 GRCh38 Chromosome 17, 10638178: 10638178
50 MYH3 NM_002470.3(MYH3): c.3594G> A (p.Ala1198=) single nucleotide variant Likely benign rs139978727 GRCh37 Chromosome 17, 10541495: 10541495

Expression for Arthrogryposis, Distal, Type 1a

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 1a.

Pathways for Arthrogryposis, Distal, Type 1a

Pathways related to Arthrogryposis, Distal, Type 1a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.48 MYBPC1 TPM2

GO Terms for Arthrogryposis, Distal, Type 1a

Cellular components related to Arthrogryposis, Distal, Type 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.8 MYBPC1 RYR1 SMN1

Biological processes related to Arthrogryposis, Distal, Type 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.26 ADGRG6 GBA
2 muscle filament sliding GO:0030049 9.16 MYBPC1 TPM2
3 myelination in peripheral nervous system GO:0022011 8.96 ADGRG6 CNTNAP1
4 muscle contraction GO:0006936 8.8 MYBPC1 RYR1 TPM2

Molecular functions related to Arthrogryposis, Distal, Type 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.62 MYBPC1 TPM2

Sources for Arthrogryposis, Distal, Type 1a

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
35 ICD9CM
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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