DA2B
MCID: ART119
MIFTS: 49

Arthrogryposis, Distal, Type 5 (DA2B)

Categories: Genetic diseases, Rare diseases, Fetal diseases, Ear diseases, Bone diseases, Oral diseases, Muscle diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 5

MalaCards integrated aliases for Arthrogryposis, Distal, Type 5:

Name: Arthrogryposis, Distal, Type 5 57 40
Oculomelic Amyoplasia 57 76 53 59 75 29 6 73
Distal Arthrogryposis Type 2b 53 25 59 29 6
Sheldon-Hall Syndrome 57 53 25 59 75
Freeman-Sheldon Syndrome Variant 57 53 59 75
Da2b 57 53 25 75
Arthrogryposis with Oculomotor Limitation and Electroretinal Abnormalities 57 53 75
Arthrogryposis Multiplex Congenita, Distal, Type 2b 57 25 13
Arthrogryposis, Distal, Type 2b 57 40 73
Distal Arthrogryposis Type Iib 53 59 75
Shs 57 25 75
Arthrogryposis Multiplex Congenita Distal Type Ii with Craniofacial Abnormalities 53 75
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome 53 59
Arthrogryposis Multiplex Congenita Distal Type 2b 53 75
Distal Arthrogryposis with Ophthalmoplegia 53 59
Distal Arthrogryposis Type 5 53 59
Daiib 57 75
Fssv 57 75
Da5 57 75
Arthrogryposis Multiplex Congenita, Distal, Type Ii, with Craniofacial Abnormalities 57
Arthogryposis with Oculomotor Limitation and Electroretinal Abnormalities 53
Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome 53
Arthrogryposis Ophthalmoplegia Retinopathy 53
Arthrogryposis, Distal, Type Iib; Daiib 57
Freeman-Sheldon Syndrome Variant; Fssv 57
Freeman Sheldon Syndrome, Variant 53
Arthrogryposis, Distal, Type Iib 57
Sheldon-Hall Syndrome; Shs 57
Arthrogryposis, Distal, 2b 75
Arthrogryposis, Distal, 5 75
Freeman Sheldon Variant 53
Amcd2b 75

Characteristics:

Orphanet epidemiological data:

59
arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: normal life expectancy;
sheldon-hall syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
arthrogryposis, distal, type 5:
Inheritance autosomal dominant inheritance

arthrogryposis, distal, type 2b:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Arthrogryposis, Distal, Type 5

OMIM : 57 Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009). There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and Marden-Walker syndrome (MWKS; 248700), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition. For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120). (108145)

MalaCards based summary : Arthrogryposis, Distal, Type 5, also known as oculomelic amyoplasia, is related to arthrogryposis, distal, type 2a and distal arthrogryposis, and has symptoms including ulnar deviation of the wrist and ophthalmoplegia. An important gene associated with Arthrogryposis, Distal, Type 5 is TPM2 (Tropomyosin 2), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Affiliated tissues include lung, skeletal muscle and eye, and related phenotypes are short neck and pectus excavatum

UniProtKB/Swiss-Prot : 75 Arthrogryposis, distal, 2B: 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. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. Arthrogryposis, distal, 5: 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. DA5 features include ocular abnormalities, typically ptosis, ophthalmoplegia and/or strabismus, in addition to contractures of the skeletal muscles. Some patients have pulmonary hypertension as a result of restrictive lung disease.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1154Disease definitionDistal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenitalcontractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.Visit the Orphanet disease page for more resources.

Genetics Home Reference : 25 Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, 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). "Distal" refers to areas of the body away from the center. The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity called ulnar deviation in which all of the fingers are angled outward toward the fifth (pinky) finger. Inward- and upward-turning feet (a condition called clubfoot) is also commonly seen in Sheldon-Hall syndrome. The specific hand and foot abnormalities vary among affected individuals; the abnormalities are present at birth and generally do not get worse over time.

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

Related Diseases for Arthrogryposis, Distal, Type 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 2a 29.5 MYH3 NALCN
2 distal arthrogryposis 27.6 MYH3 NALCN PIEZO2 TNNI2 TNNT3 TPM2
3 renpenning syndrome 1 11.2
4 arthrogryposis, distal, type 3 10.9
5 arthrogryposis, distal, type 5d 10.9
6 neuroblastoma 10.6
7 neuronitis 10.2
8 mumps 10.0
9 dysentery 10.0
10 fissured tongue 9.9 TNNI2 TNNT3
11 hepatitis 9.9
12 neuropathy 9.9
13 tongue disease 9.9 TNNI2 TNNT3
14 cataract 9.8
15 hepatic coma 9.8
16 senile cataract 9.8
17 endotheliitis 9.8
18 congenital contractures 9.8 NALCN TNNT3
19 alzheimer disease 9.7
20 leukemia, chronic lymphocytic 2 9.7
21 hepatocellular carcinoma 9.7
22 leukemia, chronic lymphocytic 9.7
23 myasthenia gravis 9.7
24 hepatitis c virus 9.7
25 adult t-cell leukemia 9.7
26 diabetic neuropathy 9.7
27 hemangioma 9.7
28 neutropenia 9.7
29 lymphoma 9.7
30 gastric ulcer 9.7
31 pertussis 9.7
32 esophagitis 9.7
33 hepatitis c 9.7
34 ankylosis 9.7
35 cervicitis 9.7
36 sick building syndrome 9.7
37 breast disease 9.7
38 brain stem infarction 9.7
39 sclerosing hemangioma 9.7
40 peripheral nervous system disease 9.7
41 t-cell leukemia 9.7
42 herpes simplex 9.7
43 fibromatosis 9.7
44 glioma 9.7
45 infantile digital fibromatosis 9.7
46 leukemia, b-cell, chronic 9.7
47 mercury poisoning 9.7
48 myasthenia gravis congenital 9.7
49 depression 9.7
50 neonatal alloimmune neutropenia 9.7

Graphical network of the top 20 diseases related to Arthrogryposis, Distal, Type 5:



Diseases related to Arthrogryposis, Distal, Type 5

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 5

Symptoms via clinical synopsis from OMIM:

57
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Head And Neck Eyes:
ptosis
strabismus
abnormal electroretinogram
blepharophimosis
keratoconus
more
Head And Neck Face:
triangular face
decreased facial expression

Neurologic Central Nervous System:
normal intelligence
weak or absent tendon reflexes of knees and ankles (in some patients)

Respiratory Lung:
restrictive lung disease

Skeletal Spine:
spine stiffness
scoliosis (rare)

Skin Nails Hair Skin:
absent phalangeal creases
poorly formed palmar creases
dimples over large joints

Muscle Soft Tissue:
decreased muscle mass (especially in lower limbs)
firm muscles

Skeletal Hands:
clinodactyly
camptodactyly
long fingers
limited wrist extension
congenital finger contractures
more
Growth Height:
short stature

Head And Neck Mouth:
high-arched palate
reduced ability to open mouth (in some patients)

Head And Neck Ears:
prominent ears

Chest External Features:
hunched, anteverted shoulders

Skeletal Limbs:
limited forearm rotation
absent anterior cruciate ligament bilaterally (in some patients)

Skeletal Feet:
bilateral club feet


Clinical features from OMIM:

108145 601680

Human phenotypes related to Arthrogryposis, Distal, Type 5:

59 32 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
2 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
3 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
4 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
5 scoliosis 59 32 occasional (7.5%) Very frequent (99-80%) HP:0002650
6 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
7 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
8 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
9 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001387
10 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
11 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
12 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
13 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
14 abnormal electroretinogram 59 32 frequent (33%) Frequent (79-30%) HP:0000512
15 abnormality of the hip bone 59 32 frequent (33%) Frequent (79-30%) HP:0003272
16 webbed neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000465
17 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
18 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
19 arachnodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001166
20 narrow face 59 32 frequent (33%) Frequent (79-30%) HP:0000275
21 bilateral single transverse palmar creases 59 32 hallmark (90%) Very frequent (99-80%) HP:0007598
22 round ear 59 32 frequent (33%) Frequent (79-30%) HP:0100830
23 adducted thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0001181
24 vertebral segmentation defect 59 32 frequent (33%) Frequent (79-30%) HP:0003422
25 triangular face 59 32 frequent (33%) Frequent (79-30%) HP:0000325
26 ulnar deviation of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009465
27 tarsal synostosis 59 32 frequent (33%) Frequent (79-30%) HP:0008368
28 ophthalmoplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000602
29 deviation of finger 59 32 frequent (33%) Frequent (79-30%) HP:0004097
30 aplasia/hypoplasia of the radius 59 32 hallmark (90%) Very frequent (99-80%) HP:0006501
31 bilateral talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001776
32 congenital finger flexion contractures 59 32 frequent (33%) Frequent (79-30%) HP:0005879
33 absent palmar crease 59 32 frequent (33%) Frequent (79-30%) HP:0010489
34 overlapping fingers 59 32 frequent (33%) Frequent (79-30%) HP:0010557
35 ulnar deviation of the wrist 59 32 frequent (33%) Frequent (79-30%) HP:0003049
36 clinodactyly 32 HP:0030084
37 mandibular prognathia 32 HP:0000303
38 abnormality of retinal pigmentation 32 HP:0007703
39 decreased muscle mass 32 HP:0003199
40 long philtrum 32 HP:0000343
41 epicanthus 32 HP:0000286
42 metatarsus adductus 32 HP:0001840
43 arthrogryposis multiplex congenita 32 HP:0002804
44 downslanted palpebral fissures 32 HP:0000494
45 narrow mouth 32 HP:0000160
46 talipes equinovarus 32 HP:0001762
47 blepharophimosis 32 HP:0000581
48 camptodactyly of finger 32 HP:0100490
49 keratoconus 32 HP:0000563
50 astigmatism 32 HP:0000483

UMLS symptoms related to Arthrogryposis, Distal, Type 5:


ulnar deviation of the wrist, ophthalmoplegia

Drugs & Therapeutics for Arthrogryposis, Distal, Type 5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Human Factors Analysis in VR for Burn Treatment Completed NCT00409552 Phase 1, Phase 2

Search NIH Clinical Center for Arthrogryposis, Distal, Type 5

Genetic Tests for Arthrogryposis, Distal, Type 5

Genetic tests related to Arthrogryposis, Distal, Type 5:

# Genetic test Affiliating Genes
1 Distal Arthrogryposis Type 2b 29 MYH3 TNNI2 TNNT3 TPM2
2 Oculomelic Amyoplasia 29 PIEZO2

Anatomical Context for Arthrogryposis, Distal, Type 5

MalaCards organs/tissues related to Arthrogryposis, Distal, Type 5:

41
Lung, Skeletal Muscle, Eye, Bone

Publications for Arthrogryposis, Distal, Type 5

Articles related to Arthrogryposis, Distal, Type 5:

# Title Authors Year
1
7A Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). ( 21722758 )
2011
2
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B. ( 17380469 )
2007
3
A TNNI2 mutation in a family with distal arthrogryposis type 2B. ( 16497570 )
2006
4
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B. ( 17101001 )
2006
5
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. ( 12865991 )
2003

Variations for Arthrogryposis, Distal, Type 5

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, Type 5:

75 (show all 15)
# Symbol AA change Variation ID SNP ID
1 MYH3 p.Thr178Ile VAR_030370 rs121913619
2 MYH3 p.Ser261Phe VAR_030371
3 MYH3 p.Ser292Cys VAR_030372 rs139480342
4 MYH3 p.Glu375Lys VAR_030373 rs121913621
5 MYH3 p.Asp517Tyr VAR_030375
6 MYH3 p.Gly769Val VAR_030379
7 MYH3 p.Lys838Glu VAR_030381
8 PIEZO2 p.Ile802Phe VAR_070938 rs587777076
9 PIEZO2 p.Arg2718Leu VAR_071304 rs587777452
10 PIEZO2 p.Arg2718Pro VAR_071305 rs587777452
11 PIEZO2 p.Ser2739Pro VAR_071306 rs587777454
12 PIEZO2 p.Met712Val VAR_071817 rs587777453
13 TNNI2 p.Arg174Gln VAR_016087 rs104894311
14 TNNT3 p.Arg74His VAR_026453 rs121434638
15 TPM2 p.Arg133Trp VAR_070981 rs137853305

ClinVar genetic disease variations for Arthrogryposis, Distal, Type 5:

6
(show all 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNT3 NM_006757.3(TNNT3): c.188G> A (p.Arg63His) single nucleotide variant Pathogenic rs121434638 GRCh37 Chromosome 11, 1954967: 1954967
2 TNNT3 NM_006757.3(TNNT3): c.188G> A (p.Arg63His) single nucleotide variant Pathogenic rs121434638 GRCh38 Chromosome 11, 1933737: 1933737
3 TNNI2 NM_003282.3(TNNI2): c.521G> A (p.Arg174Gln) single nucleotide variant Pathogenic rs104894311 GRCh37 Chromosome 11, 1862753: 1862753
4 TNNI2 NM_003282.3(TNNI2): c.521G> A (p.Arg174Gln) single nucleotide variant Pathogenic rs104894311 GRCh38 Chromosome 11, 1841523: 1841523
5 TNNI2 NM_003282.3(TNNI2): c.466C> T (p.Arg156Ter) single nucleotide variant Pathogenic rs104894312 GRCh37 Chromosome 11, 1862698: 1862698
6 TNNI2 NM_003282.3(TNNI2): c.466C> T (p.Arg156Ter) single nucleotide variant Pathogenic rs104894312 GRCh38 Chromosome 11, 1841468: 1841468
7 TNNI2 NM_003282.3(TNNI2): c.499_501delGAG (p.Glu167del) deletion Pathogenic rs199474800 GRCh37 Chromosome 11, 1862731: 1862733
8 TNNI2 NM_003282.3(TNNI2): c.499_501delGAG (p.Glu167del) deletion Pathogenic rs199474800 GRCh38 Chromosome 11, 1841501: 1841503
9 TPM2 NM_003289.3(TPM2): c.397C> T (p.Arg133Trp) single nucleotide variant Pathogenic rs137853305 GRCh37 Chromosome 9, 35685526: 35685526
10 TPM2 NM_003289.3(TPM2): c.397C> T (p.Arg133Trp) single nucleotide variant Pathogenic rs137853305 GRCh38 Chromosome 9, 35685529: 35685529
11 MYH3 NM_002470.3(MYH3): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs121913619 GRCh37 Chromosome 17, 10553691: 10553691
12 MYH3 NM_002470.3(MYH3): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs121913619 GRCh38 Chromosome 17, 10650374: 10650374
13 MYH3 NM_002470.3(MYH3): c.2590_2592delCTC (p.Leu864del) deletion Pathogenic rs879255230 GRCh37 Chromosome 17, 10543403: 10543405
14 MYH3 NM_002470.3(MYH3): c.2590_2592delCTC (p.Leu864del) deletion Pathogenic rs879255230 GRCh38 Chromosome 17, 10640086: 10640088
15 MYH3 NM_002470.3(MYH3): c.1123G> A (p.Glu375Lys) single nucleotide variant Pathogenic rs121913621 GRCh37 Chromosome 17, 10549042: 10549042
16 MYH3 NM_002470.3(MYH3): c.1123G> A (p.Glu375Lys) single nucleotide variant Pathogenic rs121913621 GRCh38 Chromosome 17, 10645725: 10645725
17 MYH3 NM_002470.3(MYH3): c.1385A> G (p.Asp462Gly) single nucleotide variant Pathogenic rs121913622 GRCh37 Chromosome 17, 10547693: 10547693
18 MYH3 NM_002470.3(MYH3): c.1385A> G (p.Asp462Gly) single nucleotide variant Pathogenic rs121913622 GRCh38 Chromosome 17, 10644376: 10644376
19 MYH3 NM_002470.3(MYH3): c.700G> A (p.Ala234Thr) single nucleotide variant Likely pathogenic rs121913623 GRCh37 Chromosome 17, 10551909: 10551909
20 MYH3 NM_002470.3(MYH3): c.700G> A (p.Ala234Thr) single nucleotide variant Likely pathogenic rs121913623 GRCh38 Chromosome 17, 10648592: 10648592
21 PIEZO2 NM_022068.3(PIEZO2): c.2404A> T (p.Ile802Phe) single nucleotide variant Pathogenic rs587777076 GRCh37 Chromosome 18, 10784870: 10784870
22 PIEZO2 NM_022068.3(PIEZO2): c.2404A> T (p.Ile802Phe) single nucleotide variant Pathogenic rs587777076 GRCh38 Chromosome 18, 10784872: 10784872
23 PIEZO2 NM_022068.3(PIEZO2): c.8057G> A (p.Arg2686His) single nucleotide variant Pathogenic rs587777450 GRCh38 Chromosome 18, 10671729: 10671729
24 PIEZO2 NM_022068.3(PIEZO2): c.8057G> A (p.Arg2686His) single nucleotide variant Pathogenic rs587777450 GRCh37 Chromosome 18, 10671726: 10671726
25 PIEZO2 NM_022068.3(PIEZO2): c.8153G> T (p.Arg2718Leu) single nucleotide variant Pathogenic rs587777452 GRCh38 Chromosome 18, 10671633: 10671633
26 PIEZO2 NM_022068.3(PIEZO2): c.8153G> T (p.Arg2718Leu) single nucleotide variant Pathogenic rs587777452 GRCh37 Chromosome 18, 10671630: 10671630
27 PIEZO2 NM_022068.3(PIEZO2): c.8153G> C (p.Arg2718Pro) single nucleotide variant Pathogenic rs587777452 GRCh38 Chromosome 18, 10671633: 10671633
28 PIEZO2 NM_022068.3(PIEZO2): c.8153G> C (p.Arg2718Pro) single nucleotide variant Pathogenic rs587777452 GRCh37 Chromosome 18, 10671630: 10671630
29 PIEZO2 NM_022068.3(PIEZO2): c.2134A> G (p.Met712Val) single nucleotide variant Pathogenic rs587777453 GRCh38 Chromosome 18, 10789114: 10789114
30 PIEZO2 NM_022068.3(PIEZO2): c.2134A> G (p.Met712Val) single nucleotide variant Pathogenic rs587777453 GRCh37 Chromosome 18, 10789112: 10789112
31 PIEZO2 NM_022068.3(PIEZO2): c.8215T> C (p.Ser2739Pro) single nucleotide variant Pathogenic rs587777454 GRCh38 Chromosome 18, 10671571: 10671571
32 PIEZO2 NM_022068.3(PIEZO2): c.8215T> C (p.Ser2739Pro) single nucleotide variant Pathogenic rs587777454 GRCh37 Chromosome 18, 10671568: 10671568
33 TNNI2 NM_003282.3(TNNI2): c.525G> T (p.Lys175Asn) single nucleotide variant Likely pathogenic rs797046046 GRCh37 Chromosome 11, 1862757: 1862757
34 TNNI2 NM_003282.3(TNNI2): c.525G> T (p.Lys175Asn) single nucleotide variant Likely pathogenic rs797046046 GRCh38 Chromosome 11, 1841527: 1841527
35 PIEZO2 NM_022068.3(PIEZO2): c.8208delA (p.Tyr2737Ilefs) deletion Pathogenic rs878853135 GRCh37 Chromosome 18, 10671575: 10671575
36 PIEZO2 NM_022068.3(PIEZO2): c.8208delA (p.Tyr2737Ilefs) deletion Pathogenic rs878853135 GRCh38 Chromosome 18, 10671578: 10671578
37 PIEZO2 NM_022068.3(PIEZO2): c.8181_8183delAGA (p.Glu2727del) deletion Pathogenic rs587777077 GRCh38 Chromosome 18, 10671603: 10671605
38 PIEZO2 NM_022068.3(PIEZO2): c.8181_8183delAGA (p.Glu2727del) deletion Pathogenic rs587777077 GRCh37 Chromosome 18, 10671600: 10671602
39 PIEZO2 NM_022068.3(PIEZO2): c.7067C> T (p.Thr2356Met) single nucleotide variant Pathogenic rs878853137 GRCh37 Chromosome 18, 10689744: 10689744
40 PIEZO2 NM_022068.3(PIEZO2): c.7067C> T (p.Thr2356Met) single nucleotide variant Pathogenic rs878853137 GRCh38 Chromosome 18, 10689746: 10689746
41 PIEZO2 NM_022068.3(PIEZO2): c.6668C> T (p.Ser2223Leu) single nucleotide variant Pathogenic rs878853138 GRCh37 Chromosome 18, 10696255: 10696255
42 PIEZO2 NM_022068.3(PIEZO2): c.6668C> T (p.Ser2223Leu) single nucleotide variant Pathogenic rs878853138 GRCh38 Chromosome 18, 10696257: 10696257
43 PIEZO2 NM_022068.3(PIEZO2): c.6662C> T (p.Thr2221Ile) single nucleotide variant Pathogenic rs878853139 GRCh38 Chromosome 18, 10696263: 10696263
44 PIEZO2 NM_022068.3(PIEZO2): c.6662C> T (p.Thr2221Ile) single nucleotide variant Pathogenic rs878853139 GRCh37 Chromosome 18, 10696261: 10696261
45 PIEZO2 NM_022068.3(PIEZO2): c.2993T> C (p.Met998Thr) single nucleotide variant Pathogenic rs878853140 GRCh38 Chromosome 18, 10762977: 10762977
46 PIEZO2 NM_022068.3(PIEZO2): c.2993T> C (p.Met998Thr) single nucleotide variant Pathogenic rs878853140 GRCh37 Chromosome 18, 10762975: 10762975
47 MYH3 NM_002470.3(MYH3): c.850T> G (p.Tyr284Asp) single nucleotide variant Likely pathogenic rs886042111 GRCh37 Chromosome 17, 10550547: 10550547
48 MYH3 NM_002470.3(MYH3): c.850T> G (p.Tyr284Asp) single nucleotide variant Likely pathogenic rs886042111 GRCh38 Chromosome 17, 10647230: 10647230
49 MYH3 NM_002470.3(MYH3): c.4826G> A (p.Arg1609Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 10535923: 10535923
50 MYH3 NM_002470.3(MYH3): c.4826G> A (p.Arg1609Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 10632606: 10632606

Expression for Arthrogryposis, Distal, Type 5

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 5.

Pathways for Arthrogryposis, Distal, Type 5

GO Terms for Arthrogryposis, Distal, Type 5

Cellular components related to Arthrogryposis, Distal, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 troponin complex GO:0005861 8.62 TNNI2 TNNT3

Biological processes related to Arthrogryposis, Distal, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation transmembrane transport GO:0098655 9.43 NALCN PIEZO2
2 cardiac muscle contraction GO:0060048 9.4 TNNI2 TNNT3
3 sarcomere organization GO:0045214 9.37 MYH3 TNNT3
4 muscle contraction GO:0006936 9.33 TNNI2 TNNT3 TPM2
5 regulation of muscle contraction GO:0006937 9.32 TNNI2 TNNT3
6 regulation of ATPase activity GO:0043462 9.26 TNNT3 TPM2
7 skeletal muscle contraction GO:0003009 9.13 MYH3 TNNI2 TNNT3
8 muscle filament sliding GO:0030049 8.92 MYH3 TNNI2 TNNT3 TPM2

Molecular functions related to Arthrogryposis, Distal, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.16 MYH3 TPM2
2 cation channel activity GO:0005261 8.96 NALCN PIEZO2
3 actin binding GO:0003779 8.92 MYH3 TNNI2 TNNT3 TPM2

Sources for Arthrogryposis, Distal, Type 5

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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