DA1A
MCID: ART144
MIFTS: 50

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 58
Amcd1 58 54 26 76
Distal Arthrogryposis Type 1a 54 30 6
Distal Arthrogryposis Type 1b 54 30 6
Da1a 58 54 76
Arthrogryposis Multiplex Congenita, Distal, Type 1 58 13
Arthrogryposis Multiplex Congenita Distal Type 1 54 76
Arthrogryposis, Distal, Type 1 58 26
Distal Arthrogryposis Type 1 54 26
Digitotalar Dysmorphism 54 74
Da1 58 26
Arthrogryposis Multiplex Congenita, Distal, Type I; Amcd1 58
Arthrogryposis Multiplex Congenita, Distal, Type I 58
Arthrogryposis Multiplex Congenita, Distal Type 1 77
Arthrogryposis, Distal, Type 1; Da1 58
Arthrogryposis Multiplex Congenita 76
Arthrogryposis, Distal, 1a 76
Arthrogryposis 74
Amc 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
arthrogryposis, distal, type 1a:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Arthrogryposis, Distal, Type 1a

OMIM : 58 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 Dopamine and Aripiprazole have been mentioned in the context of this disorder. Affiliated tissues include lung, and related phenotypes are scoliosis and lymphedema

Genetics Home Reference : 26 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 : 54 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 : 76 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 : 77 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 116)
# Related Disease Score Top Affiliating Genes
1 distal arthrogryposis 34.0 MYBPC1 TPM2
2 digitotalar dysmorphism 32.0 TPM2 MYBPC1
3 clubfoot 30.9 TPM2 MYBPC1
4 myasthenia gravis 30.2 RAPSN RYR1
5 neuromuscular disease 29.8 RYR1 SMN1
6 peripheral nervous system disease 29.3 RAPSN SMN1
7 arthrogryposis multiplex congenita, neurogenic type 13.1
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 12.6
11 fetal akinesia deformation sequence 12.4
12 arthrogryposis multiplex congenita cns calcification 12.4
13 antenatal multiminicore disease with arthrogryposis multiplex congenita 12.4
14 mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 12.4
15 arthrogryposis, renal dysfunction, and cholestasis 1 12.3
16 spinal muscular atrophy, x-linked 2 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 arthrogryposis epileptic seizures migrational brain disorder 11.4
25 escobar syndrome, type b 11.4
26 muscular dystrophy, congenital, producing arthrogryposis 11.4
27 bruck syndrome 1 11.4
28 multiple pterygium syndrome, escobar variant 11.4
29 spinal muscular atrophy, type i, with congenital bone fractures 11.4
30 congenital arthrogryposis with anterior horn cell disease 11.4
31 arthrogryposis, renal dysfunction, and cholestasis 2 11.4
32 lethal congenital contracture syndrome 7 11.4
33 spinal muscular atrophy with congenital bone fractures 2 11.4
34 neuropathy, congenital hypomyelinating, 2 11.4
35 neuropathy, congenital hypomyelinating, 3 11.4
36 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 11.4
37 intellectual disability-developmental delay-contractures syndrome 11.4
38 alkuraya-kucinskas syndrome 11.3
39 arthrogryposis, distal, type 1b 11.2
40 arthrogryposis, distal, type 5 11.1
41 arthrogryposis, distal, type 5d 11.1
42 ataxia-microcephaly-cataract syndrome 11.1
43 scoliosis 10.5
44 spinal muscular atrophy 10.5
45 muscular atrophy 10.5
46 brittle bone disorder 10.3
47 alacrima, achalasia, and mental retardation syndrome 10.3
48 neuropathy 10.3
49 muscular dystrophy 10.3
50 myasthenia gravis congenital 10.3

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

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

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

Symptoms via clinical synopsis from OMIM:

58
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

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


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

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

27 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.58 MET
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.58 MET
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.58 RYR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.58 RYR1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.58 RYR1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.58 MET
7 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.58 RYR1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.58 MET
9 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.58 MET
10 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.58 RYR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.58 MET
12 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.58 MET
13 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.58 RYR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.58 MET
15 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.58 MET RYR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.58 MET
17 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.58 RYR1

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

47
# 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 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 1 62-31-7, 51-61-6 681
2
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
3
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
4 Tranquilizing Agents Phase 4,Phase 1
5 Dopamine Antagonists Phase 4,Phase 1
6 Antipsychotic Agents Phase 4,Phase 1
7 Neurotransmitter Agents Phase 4,Phase 1
8 Central Nervous System Depressants Phase 4,Phase 1
9 Psychotropic Drugs Phase 4,Phase 1
10 Dopamine Agents Phase 4,Phase 1
11 Neurotransmitter Uptake Inhibitors Phase 4
12 Serotonin Agents Phase 4
13 Serotonin 5-HT2 Receptor Antagonists Phase 4
14 Antidepressive Agents Phase 4
15 Serotonin 5-HT1 Receptor Agonists Phase 4
16 Serotonin Antagonists Phase 4
17 Dopamine D2 Receptor Antagonists Phase 4
18 Serotonin Receptor Agonists Phase 4
19 Gastrointestinal Agents Phase 4
20 Antiemetics Phase 4
21 Dopamine agonists Phase 4
22 Serotonin Uptake Inhibitors Phase 4
23 Autonomic Agents Phase 4
24 Peripheral Nervous System Agents Phase 4
25
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
26
Cocaine Approved, Illicit Phase 1 50-36-2 446220 5760
27 Flupenthixol decanoate Phase 1
28
Protein C Approved Not Applicable
29
Adenosine Approved, Investigational 58-61-7 60961
30
Serine Approved, Nutraceutical Not Applicable 56-45-1 5951
31 Trypsin Inhibitors Not Applicable
32 Alpha 1-Antitrypsin Not Applicable
33
protease inhibitors Not Applicable
34 HIV Protease Inhibitors Not Applicable
35 Protein C Inhibitor Not Applicable
36 Serine Proteinase Inhibitors Not Applicable
37 Vasodilator Agents
38 Anti-Arrhythmia Agents
39 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 30 TPM2
2 Distal Arthrogryposis Type 1b 30 MYBPC1

Anatomical Context for Arthrogryposis, Distal, Type 1a

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

42
Lung

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:

76
# 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 394)
# 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 SH3TC2 NM_024577.3(SH3TC2): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359890 GRCh38 Chromosome 5, 149042718: 149042718
3 TPM2 NM_003289.3(TPM2): c.271C> G (p.Arg91Gly) single nucleotide variant Pathogenic rs104894127 GRCh37 Chromosome 9, 35685747: 35685747
4 TPM2 NM_003289.3(TPM2): c.271C> G (p.Arg91Gly) single nucleotide variant Pathogenic rs104894127 GRCh38 Chromosome 9, 35685750: 35685750
5 TPM2 NM_003289.3(TPM2): c.349G> A (p.Glu117Lys) single nucleotide variant Pathogenic rs104894129 GRCh37 Chromosome 9, 35685669: 35685669
6 TPM2 NM_003289.3(TPM2): c.349G> A (p.Glu117Lys) single nucleotide variant Pathogenic rs104894129 GRCh38 Chromosome 9, 35685672: 35685672
7 TPM2 NM_003289.3(TPM2): c.415_417delGAG (p.Glu139del) deletion Pathogenic rs199476153 GRCh37 Chromosome 9, 35685506: 35685508
8 TPM2 NM_003289.3(TPM2): c.415_417delGAG (p.Glu139del) deletion Pathogenic rs199476153 GRCh38 Chromosome 9, 35685509: 35685511
9 TNNT3 NM_006757.3(TNNT3): c.414G> A (p.Glu138=) single nucleotide variant Likely benign rs2292470 GRCh37 Chromosome 11, 1955609: 1955609
10 TNNT3 NM_006757.3(TNNT3): c.414G> A (p.Glu138=) single nucleotide variant Likely benign rs2292470 GRCh38 Chromosome 11, 1934379: 1934379
11 TNNT3 NM_006757.3(TNNT3): c.636T> C (p.Ile212=) single nucleotide variant Benign/Likely benign rs16927166 GRCh37 Chromosome 11, 1956104: 1956104
12 TNNT3 NM_006757.3(TNNT3): c.636T> C (p.Ile212=) single nucleotide variant Benign/Likely benign rs16927166 GRCh38 Chromosome 11, 1934874: 1934874
13 TNNT3 NM_006757.3(TNNT3): c.762C> T (p.Gly254=) single nucleotide variant Benign/Likely benign rs4727 GRCh37 Chromosome 11, 1959707: 1959707
14 TNNT3 NM_006757.3(TNNT3): c.762C> T (p.Gly254=) single nucleotide variant Benign/Likely benign rs4727 GRCh38 Chromosome 11, 1938477: 1938477
15 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 GRCh37 Chromosome 1, 10363509: 10363509
16 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 GRCh38 Chromosome 1, 10303451: 10303451
17 TPM2 NM_003289.3(TPM2): c.726C> T (p.Ala242=) single nucleotide variant Conflicting interpretations of pathogenicity rs76414035 GRCh37 Chromosome 9, 35684289: 35684289
18 TPM2 NM_003289.3(TPM2): c.726C> T (p.Ala242=) single nucleotide variant Conflicting interpretations of pathogenicity rs76414035 GRCh38 Chromosome 9, 35684292: 35684292
19 TPM2 NM_003289.3(TPM2): c.*99A> G single nucleotide variant Uncertain significance rs879505630 GRCh38 Chromosome 9, 35683060: 35683060
20 TPM2 NM_003289.3(TPM2): c.*99A> G single nucleotide variant Uncertain significance rs879505630 GRCh37 Chromosome 9, 35683057: 35683057
21 TPM2 NM_003289.3(TPM2): c.813C> T (p.Ser271=) single nucleotide variant Uncertain significance rs201215303 GRCh38 Chromosome 9, 35683201: 35683201
22 TPM2 NM_003289.3(TPM2): c.813C> T (p.Ser271=) single nucleotide variant Uncertain significance rs201215303 GRCh37 Chromosome 9, 35683198: 35683198
23 TPM2 NM_003289.3(TPM2): c.564-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs763429317 GRCh37 Chromosome 9, 35684813: 35684813
24 TPM2 NM_003289.3(TPM2): c.564-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs763429317 GRCh38 Chromosome 9, 35684816: 35684816
25 TNNI2 NM_003282.3(TNNI2): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs778403065 GRCh37 Chromosome 11, 1861849: 1861849
26 TNNI2 NM_003282.3(TNNI2): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs778403065 GRCh38 Chromosome 11, 1840619: 1840619
27 TNNI2 NM_003282.3(TNNI2): c.276+15C> T single nucleotide variant Uncertain significance rs200628572 GRCh37 Chromosome 11, 1862153: 1862153
28 TNNI2 NM_003282.3(TNNI2): c.276+15C> T single nucleotide variant Uncertain significance rs200628572 GRCh38 Chromosome 11, 1840923: 1840923
29 TNNI2 NM_003282.3(TNNI2): c.*94C> T single nucleotide variant Likely benign rs117830156 GRCh37 Chromosome 11, 1862875: 1862875
30 TNNI2 NM_003282.3(TNNI2): c.*94C> T single nucleotide variant Likely benign rs117830156 GRCh38 Chromosome 11, 1841645: 1841645
31 MYH3 NM_002470.3(MYH3): c.5804T> C (p.Val1935Ala) single nucleotide variant Uncertain significance rs886052577 GRCh37 Chromosome 17, 10531989: 10531989
32 MYH3 NM_002470.3(MYH3): c.5804T> C (p.Val1935Ala) single nucleotide variant Uncertain significance rs886052577 GRCh38 Chromosome 17, 10628672: 10628672
33 MYH3 NM_002470.3(MYH3): c.5674G> A (p.Ala1892Thr) single nucleotide variant Uncertain significance rs780846542 GRCh38 Chromosome 17, 10629719: 10629719
34 MYH3 NM_002470.3(MYH3): c.5674G> A (p.Ala1892Thr) single nucleotide variant Uncertain significance rs780846542 GRCh37 Chromosome 17, 10533036: 10533036
35 MYH3 NM_002470.3(MYH3): c.5607G> T (p.Val1869=) single nucleotide variant Uncertain significance rs753515010 GRCh38 Chromosome 17, 10629893: 10629893
36 MYH3 NM_002470.3(MYH3): c.5607G> T (p.Val1869=) single nucleotide variant Uncertain significance rs753515010 GRCh37 Chromosome 17, 10533210: 10533210
37 MYH3 NM_002470.3(MYH3): c.5457+11dupG duplication Uncertain significance rs761191751 GRCh38 Chromosome 17, 10630277: 10630277
38 MYH3 NM_002470.3(MYH3): c.5457+11dupG duplication Uncertain significance rs761191751 GRCh37 Chromosome 17, 10533594: 10533594
39 MYH3 NM_002470.3(MYH3): c.5286+6G> C single nucleotide variant Uncertain significance rs576168867 GRCh38 Chromosome 17, 10631605: 10631605
40 MYH3 NM_002470.3(MYH3): c.5286+6G> C single nucleotide variant Uncertain significance rs576168867 GRCh37 Chromosome 17, 10534922: 10534922
41 MYH3 NM_002470.3(MYH3): c.4172+9C> T single nucleotide variant Likely benign rs116028239 GRCh38 Chromosome 17, 10635358: 10635358
42 MYH3 NM_002470.3(MYH3): c.4172+9C> T single nucleotide variant Likely benign rs116028239 GRCh37 Chromosome 17, 10538675: 10538675
43 MYH3 NM_002470.3(MYH3): c.3883A> G (p.Lys1295Glu) single nucleotide variant Uncertain significance rs886052580 GRCh38 Chromosome 17, 10635827: 10635827
44 MYH3 NM_002470.3(MYH3): c.3883A> G (p.Lys1295Glu) single nucleotide variant Uncertain significance rs886052580 GRCh37 Chromosome 17, 10539144: 10539144
45 MYH3 NM_002470.3(MYH3): c.3731C> T (p.Ala1244Val) single nucleotide variant Uncertain significance rs140074626 GRCh38 Chromosome 17, 10637934: 10637934
46 MYH3 NM_002470.3(MYH3): c.3731C> T (p.Ala1244Val) single nucleotide variant Uncertain significance rs140074626 GRCh37 Chromosome 17, 10541251: 10541251
47 MYH3 NM_002470.3(MYH3): c.3612T> C (p.Leu1204=) single nucleotide variant Uncertain significance rs146773743 GRCh38 Chromosome 17, 10638160: 10638160
48 MYH3 NM_002470.3(MYH3): c.3612T> C (p.Leu1204=) single nucleotide variant Uncertain significance rs146773743 GRCh37 Chromosome 17, 10541477: 10541477
49 MYH3 NM_002470.3(MYH3): c.3609G> A (p.Glu1203=) single nucleotide variant Uncertain significance rs368299686 GRCh38 Chromosome 17, 10638163: 10638163
50 MYH3 NM_002470.3(MYH3): c.3609G> A (p.Glu1203=) single nucleotide variant Uncertain significance rs368299686 GRCh37 Chromosome 17, 10541480: 10541480

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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