Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: DST002
MIFTS: 60

Distal Arthrogryposis

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Distal Arthrogryposis

About this section

MalaCards integrated aliases for Distal Arthrogryposis:

Name: Distal Arthrogryposis 12 54 38 30 6 15
Arthrogryposis Multiplex Congenita 12 77 54 30 6
Arthrogryposis 54 56 41 17 74
Arthrogryposis Multiplex Congenita Distal 54 6
Freeman-Sheldon Syndrome 12 74
Fibrous Ankylosis of Multiple Joints 54
Congenital Multiple Arthrogryposis 54
Freeman-Sheldon Syndrome Variant 12
Myodystrophia Fetalis Deformans 54
Arthrogryposis, Distal, Type 2b 74
Distal Arthrogryposis Syndrome 74
Congenital Arthromyodysplasia 54
Rocher-Sheldon Syndrome 54
Arthrogryposis, Distal 41
Sheldon-Hall Syndrome 12
Guerin-Stern Syndrome 54
Guérin-Stern Syndrome 54
Rossi Syndrome 54
Otto Syndrome 54

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Muscle diseases Ear diseases Bone diseases Neuronal diseases Respiratory diseases Oral diseases Eye diseases Smell/Taste diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:0050646
KEGG 38 H00811
ICD10 34 Q74.3
Sources

Summaries for Distal Arthrogryposis

About this section
NIH Rare Diseases : 54 Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and may lead to muscle atrophy. AMC is not a specific diagnosis, but rather a physical symptom that can be associated with many different medical conditions. It is suspected that AMC is related to decreased fetal movement during development which can have a variety of different causes, including environmental factors (i.e. maternal illness, limited space), single gene changes (autosomal dominant, autosomal recessive, X-linked), chromosomal abnormalities and various syndromes. Treatment varies based on the signs and symptoms found in each person, but may include physical therapy, removable splints, exercise, and/or surgery.

MalaCards based summary : Distal Arthrogryposis, also known as arthrogryposis multiplex congenita, is related to arthrogryposis, distal, type 1a and arthrogryposis, distal, type 2a, and has symptoms including seizures, muscle weakness and arthralgia. An important gene associated with Distal Arthrogryposis is TNNI2 (Troponin I2, Fast Skeletal Type), and among its related pathways/superpathways are Cardiac muscle contraction and Tight junction. The drugs Adenosine and Peripheral Nervous System Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and liver, and related phenotypes are muscle and respiratory system

Disease Ontology : 12 A muscle tissue disease characterized by congenital joint contractures of hand and feet.

Wikipedia : 77 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

Sources

Related Diseases for Distal Arthrogryposis

About this section

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 2b1 Arthrogryposis, Distal, Type 4
Arthrogryposis, Distal, Type 1b Arthrogryposis, Distal, Type 5d
Arthrogryposis, Distal, Type 2b2 Arthrogryposis, Distal, Type 2b3

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

(show top 50) (show all 320)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 1a 33.9 MYBPC1 RYR1 TPM2
2 arthrogryposis, distal, type 2a 33.6 MYH3 NALCN
3 arthrogryposis, distal, type 5 33.2 MYH3 NALCN PIEZO2 TNNI2 TNNT3 TPM2
4 digitotalar dysmorphism 32.1 MYBPC1 MYH3 NALCN TNNI2 TNNT3 TPM2
5 marden-walker syndrome 30.6 FBN2 PIEZO2
6 congenital contractures 30.0 NALCN RYR1 TNNT3
7 clubfoot 29.9 ECEL1 MYBPC1 MYH3 TNNT3 TPM2
8 scoliosis 29.8 FBN2 MYH3 PIEZO2 RYR1
9 ptosis 29.8 ECEL1 PIEZO2 RYR1
10 strabismus 29.3 ECEL1 NALCN PIEZO2
11 arthrogryposis multiplex congenita, neurogenic type 13.1
12 arthrogryposis multiplex congenita, neurogenic, with myelin defect 12.8
13 arthrogryposis multiplex congenita whistling face 12.6
14 autosomal recessive myogenic arthrogryposis multiplex congenita 12.6
15 arthrogryposis, mental retardation, and seizures 12.4
16 arthrogryposis multiplex congenita cns calcification 12.4
17 antenatal multiminicore disease with arthrogryposis multiplex congenita 12.4
18 mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 12.4
19 arthrogryposis, perthes disease, and upward gaze palsy 12.4
20 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.3
21 arthrogryposis, renal dysfunction, and cholestasis 1 12.3
22 arthrogryposis, distal, type 2b1 12.3
23 arthrogryposis, distal, type 5d 12.3
24 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 12.2
25 malignant hyperthermia arthrogryposis torticollis 12.2
26 pelvic dysplasia arthrogryposis of lower limbs 12.2
27 arthrogryposis, distal, type 3 12.2
28 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.2
29 arthrogryposis and ectodermal dysplasia 12.1
30 richieri-costa colletto otto syndrome 12.1
31 distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies 12.1
32 neuropathy, congenital, with arthrogryposis multiplex 12.1
33 illum syndrome 12.1
34 arthrogryposis multiplex with deafness, inguinal hernias, and early death 12.1
35 spondylohypoplasia, arthrogryposis and popliteal pterygium 12.0
36 arthrogryposis, congenital, lower limb, x-linked 12.0
37 minicore myopathy, antenatal onset, with arthrogryposis 12.0
38 arthrogryposis with hyperkeratosis 11.9
39 pelvic hypoplasia with lower-limb arthrogryposis 11.9
40 arthrogryposis, distal, type 8 11.9
41 arthrogryposis, distal, type 2e 11.9
42 arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies 11.9
43 arthrogryposis, distal, with mental retardation and characteristic facies 11.9
44 arthrogryposis iugr thoracic dystrophy 11.9
45 arthrogryposis spinal muscular atrophy 11.9
46 craniofacial dysostosis arthrogryposis progeroid appearence 11.9
47 craniosynostosis arthrogryposis cleft palate 11.9
48 craniosynostosis cleft lip palate arthrogryposis 11.9
49 ectodermal dysplasia arthrogryposis diabetes mellitus 11.9
50 overgrowth radial ray defect arthrogryposis 11.9

Graphical network of the top 20 diseases related to Distal Arthrogryposis:



Diseases related to Distal Arthrogryposis
Sources

Symptoms & Phenotypes for Distal Arthrogryposis

About this section

UMLS symptoms related to Distal Arthrogryposis:


seizures, muscle weakness, arthralgia, myalgia, ulnar deviation of the wrist, muscle cramp, metatarsalgia, muscle rigidity, muscle spasticity

MGI Mouse Phenotypes related to Distal Arthrogryposis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.5 ACTA1 ECEL1 FBN2 MYH6 RYR1 SYNE1
2 respiratory system MP:0005388 9.17 ECEL1 FBN2 MYH6 NALCN RYR1 SYNE1
Sources

Drugs & Therapeutics for Distal Arthrogryposis

About this section

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational 58-61-7 60961
2 Peripheral Nervous System Agents
3 Analgesics
4 Anti-Arrhythmia Agents
5 Neurotransmitter Agents
6 Vasodilator Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Power Mobility on Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
2 WREX Outcome Study Unknown status NCT02218593 Not Applicable
3 Movement Enhancing Device for Children Completed NCT01959581 Not Applicable
4 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
5 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Not yet recruiting NCT01306994
6 Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions Terminated NCT01307475

Search NIH Clinical Center for Distal Arthrogryposis

Sources

Genetic Tests for Distal Arthrogryposis

About this section

Genetic tests related to Distal Arthrogryposis:

# Genetic test Affiliating Genes
1 Arthrogryposis Multiplex Congenita 30
2 Distal Arthrogryposis 30
Sources

Anatomical Context for Distal Arthrogryposis

About this section

MalaCards organs/tissues related to Distal Arthrogryposis:

42
Bone, Brain, Liver, Eye, Skeletal Muscle, Skin, Testes
Sources

Publications for Distal Arthrogryposis

About this section

Articles related to Distal Arthrogryposis:

(show top 50) (show all 418)
# Title Authors Year
1
Intrafamilial variability of clinical features in distal arthrogryposis type 2B. ( 30216196 )
2019
2
Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature. ( 30800044 )
2019
3
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. ( 30938034 )
2019
4
Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms. ( 30988732 )
2019
5
Arthrogryposis multiplex congenita in utero: radiologic and pathologic findings. ( 28954562 )
2019
6
Validation of the Oswestry Disability Index for pain and disability in arthrogryposis multiplex congenita. ( 29894799 )
2019
7
Rehabilitation needs of youth with arthrogryposis multiplex congenita: Perspectives from key stakeholders. ( 30741031 )
2019
8
Nerve transfer from the median to musculocutaneous nerve to induce active elbow flexion in selected cases of arthrogryposis multiplex congenita. ( 30891796 )
2019
9
Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper. ( 31099966 )
2019
10
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. ( 29266598 )
2018
11
A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases. ( 29663639 )
2018
12
Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I. ( 30029526 )
2018
13
Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D. ( 30080694 )
2018
14
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. ( 30285720 )
2018
15
Case-matched comparative analysis of spinal deformity correction in arthrogryposis multiplex congenita versus adolescent idiopathic scoliosis. ( 30485184 )
2018
16
A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation. ( 29254829 )
2018
17
Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type. ( 28317099 )
2018
18
Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding. ( 29169929 )
2018
19
A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings. ( 29803542 )
2018
20
Development of a research platform for children with arthrogryposis multiplex congenita: study protocol for a pilot registry. ( 29961027 )
2018
21
Fetal akinesia deformation sequence, arthrogryposis multiplex congenita and bilateral clubfeet, is motor assessment of additional value for in utero diagnosis? A ten year cohort study. ( 30578734 )
2018
22
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation. ( 27782104 )
2017
23
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. ( 27974811 )
2017
24
Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis. ( 28264711 )
2017
25
Microcephaly and arthrogryposis multiplex congenita: The full-blown CNS spectrum in newborns with ZIKV infection. ( 28017252 )
2017
26
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement. ( 28040389 )
2017
27
Treatment of Scoliosis Associated With Arthrogryposis Multiplex Congenita. ( 28594689 )
2017
28
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum. ( 27684565 )
2017
29
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. ( 27933661 )
2017
30
Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia. ( 28213879 )
2017
31
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. ( 28254648 )
2017
32
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. ( 28318499 )
2017
33
Long-term functional and mobility outcomes for individuals with arthrogryposis multiplex congenita. ( 28374968 )
2017
34
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay. ( 28840640 )
2017
35
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. ( 26374086 )
2016
36
ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis. ( 26951213 )
2016
37
Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. ( 27214504 )
2016
38
Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis. ( 27542115 )
2016
39
Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. ( 27790376 )
2016
40
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. ( 27751653 )
2016
41
Characterization of a group unrelated patients with arthrogryposis multiplex congenita. ( 26453511 )
2016
42
Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita. ( 26661508 )
2016
43
A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle. ( 27364156 )
2016
44
Short-term results of early (before 6 months) open reduction of dislocated hips in arthrogryposis multiplex congenita. ( 27392301 )
2016
45
Improving arm function by prosthetic limb replacement in a patient with severe arthrogryposis multiplex congenita. ( 27534547 )
2016
46
Epidural anesthesia for labor pain and cesarean section in a parturient with arthrogryposis multiplex congenita. ( 27625508 )
2016
47
Results of Primary Talectomy for Clubfoot in Infants and Toddlers with Arthrogryposis Multiplex Congenita. ( 26529813 )
2015
48
Corneal impairment in a patient with type 2 distal arthrogryposis. ( 24296953 )
2015
49
Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2. ( 25679999 )
2015
50
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. ( 25712306 )
2015
Sources

Variations for Distal Arthrogryposis

About this section

ClinVar genetic disease variations for Distal Arthrogryposis:

6 (show top 50) (show all 194)
# Gene Variation Type Significance SNP ID Assembly Location
1 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic/Likely pathogenic rs80338903 GRCh37 Chromosome 1, 216420437: 216420437
2 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic/Likely pathogenic rs80338903 GRCh38 Chromosome 1, 216247095: 216247095
3 TNNI2 NM_003282.3(TNNI2): c.466C> T (p.Arg156Ter) single nucleotide variant Pathogenic rs104894312 GRCh37 Chromosome 11, 1862698: 1862698
4 TNNI2 NM_003282.3(TNNI2): c.466C> T (p.Arg156Ter) single nucleotide variant Pathogenic rs104894312 GRCh38 Chromosome 11, 1841468: 1841468
5 TNNT3 NM_006757.3(TNNT3): c.414G> A (p.Glu138=) single nucleotide variant Likely benign rs2292470 GRCh37 Chromosome 11, 1955609: 1955609
6 TNNT3 NM_006757.3(TNNT3): c.414G> A (p.Glu138=) single nucleotide variant Likely benign rs2292470 GRCh38 Chromosome 11, 1934379: 1934379
7 TNNT3 NM_006757.3(TNNT3): c.636T> C (p.Ile212=) single nucleotide variant Benign/Likely benign rs16927166 GRCh37 Chromosome 11, 1956104: 1956104
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 TNNI2 NM_003282.3(TNNI2): c.60T> C (p.Ser20=) single nucleotide variant Benign/Likely benign rs907610 GRCh37 Chromosome 11, 1861760: 1861760
12 TNNI2 NM_003282.3(TNNI2): c.60T> C (p.Ser20=) single nucleotide variant Benign/Likely benign rs907610 GRCh38 Chromosome 11, 1840530: 1840530
13 MYBPC1 NM_002465.3(MYBPC1): c.1386A> T (p.Thr462=) single nucleotide variant Benign rs825045 GRCh37 Chromosome 12, 102045031: 102045031
14 MYBPC1 NM_002465.3(MYBPC1): c.1386A> T (p.Thr462=) single nucleotide variant Benign rs825045 GRCh38 Chromosome 12, 101651253: 101651253
15 MYBPC1 NM_002465.3(MYBPC1): c.1518C> G (p.His506Gln) single nucleotide variant Benign rs3817552 GRCh37 Chromosome 12, 102045163: 102045163
16 MYBPC1 NM_002465.3(MYBPC1): c.1518C> G (p.His506Gln) single nucleotide variant Benign rs3817552 GRCh38 Chromosome 12, 101651385: 101651385
17 MYBPC1 NM_002465.3(MYBPC1): c.2544T> C (p.Ile848=) single nucleotide variant Benign rs7139095 GRCh37 Chromosome 12, 102064118: 102064118
18 MYBPC1 NM_002465.3(MYBPC1): c.2544T> C (p.Ile848=) single nucleotide variant Benign rs7139095 GRCh38 Chromosome 12, 101670340: 101670340
19 MYBPC1 NM_002465.3(MYBPC1): c.2817A> G (p.Pro939=) single nucleotide variant Benign rs764291 GRCh37 Chromosome 12, 102069077: 102069077
20 MYBPC1 NM_002465.3(MYBPC1): c.2817A> G (p.Pro939=) single nucleotide variant Benign rs764291 GRCh38 Chromosome 12, 101675299: 101675299
21 MYBPC1 NM_002465.3(MYBPC1): c.556+10C> G single nucleotide variant Benign rs61935677 GRCh37 Chromosome 12, 102025926: 102025926
22 MYBPC1 NM_002465.3(MYBPC1): c.556+10C> G single nucleotide variant Benign rs61935677 GRCh38 Chromosome 12, 101632148: 101632148
23 MYBPC1 NM_002465.3(MYBPC1): c.774C> T (p.Asp258=) single nucleotide variant Benign rs2293468 GRCh37 Chromosome 12, 102036305: 102036305
24 MYBPC1 NM_002465.3(MYBPC1): c.774C> T (p.Asp258=) single nucleotide variant Benign rs2293468 GRCh38 Chromosome 12, 101642527: 101642527
25 MYBPC1 NM_002465.3(MYBPC1): c.594T> C (p.Ser198=) single nucleotide variant Likely benign rs79442861 GRCh37 Chromosome 12, 102028369: 102028369
26 MYBPC1 NM_002465.3(MYBPC1): c.594T> C (p.Ser198=) single nucleotide variant Likely benign rs79442861 GRCh38 Chromosome 12, 101634591: 101634591
27 MYBPC1 NM_002465.3(MYBPC1): c.608+9A> G single nucleotide variant Likely benign rs183524782 GRCh38 Chromosome 12, 101634614: 101634614
28 MYBPC1 NM_002465.3(MYBPC1): c.608+9A> G single nucleotide variant Likely benign rs183524782 GRCh37 Chromosome 12, 102028392: 102028392
29 MYH3 NM_002470.3(MYH3): c.1504T> G (p.Tyr502Asp) single nucleotide variant Likely pathogenic rs797045727 GRCh37 Chromosome 17, 10546220: 10546220
30 MYH3 NM_002470.3(MYH3): c.1504T> G (p.Tyr502Asp) single nucleotide variant Likely pathogenic rs797045727 GRCh38 Chromosome 17, 10642903: 10642903
31 PIEZO2 NM_022068.3(PIEZO2): c.8181_8183del (p.Glu2727del) deletion Pathogenic rs1555621138 GRCh38 Chromosome 18, 10671603: 10671605
32 PIEZO2 NM_022068.3(PIEZO2): c.8181_8183del (p.Glu2727del) deletion Pathogenic rs1555621138 GRCh37 Chromosome 18, 10671600: 10671602
33 TNNT3 NM_006757.3(TNNT3): c.667C> T (p.Arg223Cys) single nucleotide variant Uncertain significance rs367658497 GRCh38 Chromosome 11, 1934905: 1934905
34 TNNT3 NM_006757.3(TNNT3): c.667C> T (p.Arg223Cys) single nucleotide variant Uncertain significance rs367658497 GRCh37 Chromosome 11, 1956135: 1956135
35 TNNT3 NM_006757.3(TNNT3): c.367-9T> C single nucleotide variant Benign/Likely benign rs76471485 GRCh38 Chromosome 11, 1934323: 1934323
36 TNNT3 NM_006757.3(TNNT3): c.367-9T> C single nucleotide variant Benign/Likely benign rs76471485 GRCh37 Chromosome 11, 1955553: 1955553
37 TNNT3 NM_006757.3(TNNT3): c.723-15G> C single nucleotide variant Likely benign rs143255528 GRCh38 Chromosome 11, 1938423: 1938423
38 TNNT3 NM_006757.3(TNNT3): c.723-15G> C single nucleotide variant Likely benign rs143255528 GRCh37 Chromosome 11, 1959653: 1959653
39 TNNT3 NM_006757.3(TNNT3): c.*36C> T single nucleotide variant Likely benign rs147535560 GRCh38 Chromosome 11, 1938528: 1938528
40 TNNT3 NM_006757.3(TNNT3): c.*36C> T single nucleotide variant Likely benign rs147535560 GRCh37 Chromosome 11, 1959758: 1959758
41 MYBPC1 NM_002465.3(MYBPC1): c.26-9C> T single nucleotide variant Benign/Likely benign rs181619118 GRCh38 Chromosome 12, 101614487: 101614487
42 MYBPC1 NM_002465.3(MYBPC1): c.26-9C> T single nucleotide variant Benign/Likely benign rs181619118 GRCh37 Chromosome 12, 102008265: 102008265
43 MYBPC1 NM_002465.3(MYBPC1): c.420C> T (p.Thr140=) single nucleotide variant Likely benign rs140667525 GRCh38 Chromosome 12, 101631701: 101631701
44 MYBPC1 NM_002465.3(MYBPC1): c.420C> T (p.Thr140=) single nucleotide variant Likely benign rs140667525 GRCh37 Chromosome 12, 102025479: 102025479
45 MYBPC1 NM_002465.3(MYBPC1): c.2809+12T> C single nucleotide variant Benign rs11110952 GRCh37 Chromosome 12, 102067412: 102067412
46 MYBPC1 NM_002465.3(MYBPC1): c.2809+12T> C single nucleotide variant Benign rs11110952 GRCh38 Chromosome 12, 101673634: 101673634
47 TNNI2 NM_003282.3(TNNI2): c.54G> C (p.Leu18=) single nucleotide variant Conflicting interpretations of pathogenicity rs181679318 GRCh37 Chromosome 11, 1861671: 1861671
48 TNNI2 NM_003282.3(TNNI2): c.54G> C (p.Leu18=) single nucleotide variant Conflicting interpretations of pathogenicity rs181679318 GRCh38 Chromosome 11, 1840441: 1840441
49 TNNI2 NM_003282.3(TNNI2): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs778403065 GRCh37 Chromosome 11, 1861849: 1861849
50 TNNI2 NM_003282.3(TNNI2): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs778403065 GRCh38 Chromosome 11, 1840619: 1840619
Sources

Expression for Distal Arthrogryposis

About this section
Search GEO for disease gene expression data for Distal Arthrogryposis.
Sources

Pathways for Distal Arthrogryposis

About this section

Pathways related to Distal Arthrogryposis according to KEGG:

38
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260
2 Tight junction hsa04530

Pathways related to Distal Arthrogryposis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Sertoli-Sertoli Cell Junction Dynamics 65
Show member pathways
 12.59 ACTA1 MYH3 MYH6 MYH8 TGFB3
2
Cardiac conduction 67
Show member pathways
 12.38 MYBPC1 MYBPC2 MYH3 MYH6 MYH8 RYR1
3
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 23
Show member pathways
 12.31 ACTA1 MYH3 MYH6 MYH8
4
RhoGDI Pathway 65
Show member pathways
 12 ACTA1 MYH3 MYH6 MYH8
5
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 23
Show member pathways
 11.87 ACTA1 FBN2 MYH3 MYH6 MYH8
6
Translocation of GLUT4 to the plasma membrane 67
11.23 MYH3 MYH6 MYH8
7
Striated Muscle Contraction 1 67
11.18 ACTA1 MYBPC1 MYBPC2 MYH3 MYH6 MYH8
8
Cytoskeleton remodeling_RalA regulation pathway 23
11 ACTA1 MYH3 MYH6 MYH8
9
Cytoskeleton remodeling_RalB regulation pathway 23
10.76 MYH3 MYH6 MYH8
Sources

GO Terms for Distal Arthrogryposis

About this section

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.71 MYBPC1 MYBPC2 MYH6 RYR1
2 myosin complex GO:0016459 9.61 MYH3 MYH6 MYH8
3 striated muscle thin filament GO:0005865 9.54 ACTA1 MYBPC1 MYBPC2
4 muscle myosin complex GO:0005859 9.5 MYH3 MYH6 MYH8
5 M band GO:0031430 9.46 MYBPC1 MYBPC2
6 myofibril GO:0030016 9.46 MYBPC1 MYH3 MYH6 MYH8
7 troponin complex GO:0005861 9.43 TNNC2 TNNI2 TNNT3
8 myosin filament GO:0032982 9.35 MYBPC1 MYBPC2 MYH3 MYH6 MYH8
9 sarcomere GO:0030017 9.17 ACTA1 MYBPC1 MYBPC2 MYH3 MYH6 MYH8

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.65 MYH6 TNNI2 TNNT3
2 sarcomere organization GO:0045214 9.65 MYBPC1 MYBPC2 MYH3 MYH6 TNNT3
3 ATP metabolic process GO:0046034 9.63 MYH3 MYH6 MYH8
4 regulation of muscle contraction GO:0006937 9.61 TNNC2 TNNI2 TNNT3
5 muscle contraction GO:0006936 9.61 ACTA1 MYBPC1 MYBPC2 MYH6 MYH8 RYR1
6 cardiac muscle fiber development GO:0048739 9.58 MYBPC1 MYBPC2 MYH6
7 skeletal muscle fiber development GO:0048741 9.55 ACTA1 RYR1
8 skeletal muscle contraction GO:0003009 9.55 MYH3 MYH8 TNNC2 TNNI2 TNNT3
9 actin filament-based movement GO:0030048 9.54 MYH3 MYH6
10 skeletal muscle thin filament assembly GO:0030240 9.54 ACTA1 MYBPC1 MYBPC2
11 cardiac muscle tissue morphogenesis GO:0055008 9.52 MYBPC1 MYBPC2
12 cardiac myofibril assembly GO:0055003 9.51 MYBPC1 MYBPC2
13 regulation of ATPase activity GO:0043462 9.5 MYH6 TNNT3 TPM2
14 skeletal muscle myosin thick filament assembly GO:0030241 9.49 MYBPC1 MYBPC2
15 muscle filament sliding GO:0030049 9.32 ACTA1 MYBPC1 MYBPC2 MYH3 MYH6 MYH8

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

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.67 MYH3 MYH6 MYH8 RYR1
2 motor activity GO:0003774 9.61 MYH3 MYH6 MYH8
3 structural constituent of muscle GO:0008307 9.56 MYBPC1 MYBPC2 MYH8 TPM2
4 actin binding GO:0003779 9.56 MYH3 MYH6 MYH8 SYNE1 TNNC2 TNNI2
5 microfilament motor activity GO:0000146 9.5 MYH3 MYH6 MYH8
6 cation channel activity GO:0005261 9.48 NALCN PIEZO2
7 myosin binding GO:0017022 9.46 ACTA1 USH2A
8 muscle alpha-actinin binding GO:0051371 9.4 MYBPC1 MYBPC2
9 myosin phosphatase activity GO:0017018 9.33 MYH3 MYH6 MYH8
10 actin filament binding GO:0051015 9.23 MYBPC1 MYBPC2 MYH3 MYH6 MYH8 SYNE1
Sources

Sources for Distal Arthrogryposis

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....