MCID: ART119
MIFTS: 41

Arthrogryposis, Distal, Type 5

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

Aliases & Classifications for Arthrogryposis, Distal, Type 5

MalaCards integrated aliases for Arthrogryposis, Distal, Type 5:

Name: Arthrogryposis, Distal, Type 5 54
Oculomelic Amyoplasia 50 56 71 29 69
Distal Arthrogryposis Type Iib 50 56 71
Arthrogryposis with Oculomotor Limitation and Electroretinal Abnormalities 50 71
Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome 50 56
Distal Arthrogryposis with Ophthalmoplegia 50 56
Distal Arthrogryposis Type 5 50 56
Arthogryposis with Oculomotor Limitation and Electroretinal Abnormalities 50
Arthrogryposis Ophthalmoplegia Retinopathy 50
Arthrogryposis, Distal, Type 2b 69
Distal Arthrogryposis Type 2b 29
Arthrogryposis, Distal, 5 71
Daiib 71
Da5 71

Characteristics:

Orphanet epidemiological data:

56
arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

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


Classifications:



Summaries for Arthrogryposis, Distal, Type 5

OMIM : 54
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 2b and arthrogryposis, distal, type 3, and has symptoms including visual impairment, optic atrophy and ptosis. An important gene associated with Arthrogryposis, Distal, Type 5 is PIEZO2 (Piezo Type Mechanosensitive Ion Channel Component 2), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Affiliated tissues include lung, skeletal muscle and eye.

NIH Rare Diseases : 50 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. last updated: 2/29/2012

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Arthrogryposis, Distal, Type 5

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:

54

Growth- Height:
short stature

Head And Neck- Eyes:
strabismus
ptosis
epicanthal folds
keratoconus
deep-set eyes
more
Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Respiratory- Lung:
restrictive lung disease

Head And Neck- Ears:
prominent ears

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

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

Skeletal- Feet:
bilateral club feet

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

Skeletal- Hands:
camptodactyly
long fingers
clinodactyly
congenital finger contractures
absent phalangeal creases
more
Neurologic- Central Nervous System:
normal intelligence
weak or absent tendon reflexes of knees and ankles (in some patients)

Head And Neck- Face:
triangular face
decreased facial expression

Skeletal- Spine:
scoliosis (rare)
spine stiffness

Chest- External Features:
hunched, anteverted shoulders

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


Clinical features from OMIM:

108145

Human phenotypes related to Arthrogryposis, Distal, Type 5:

56 32 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
2 optic atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0000648
3 ptosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000508
4 inguinal hernia 56 32 frequent (33%) Frequent (79-30%) HP:0000023
5 pectus excavatum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000767
6 triangular face 56 32 frequent (33%) Frequent (79-30%) HP:0000325
7 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
8 congenital finger flexion contractures 56 32 frequent (33%) Frequent (79-30%) HP:0005879
9 arachnodactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001166
10 ophthalmoplegia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000602
11 abnormal electroretinogram 56 32 frequent (33%) Frequent (79-30%) HP:0000512
12 macrotia 56 32 frequent (33%) Frequent (79-30%) HP:0000400
13 deeply set eye 56 32 hallmark (90%) Very frequent (99-80%) HP:0000490
14 deviation of finger 56 32 frequent (33%) Frequent (79-30%) HP:0004097
15 bilateral talipes equinovarus 56 32 frequent (33%) Frequent (79-30%) HP:0001776
16 absent palmar crease 56 32 frequent (33%) Frequent (79-30%) HP:0010489
17 short stature 32 HP:0004322
18 scoliosis 32 occasional (7.5%) HP:0002650
19 strabismus 32 HP:0000486
20 arthrogryposis multiplex congenita 32 HP:0002804
21 keratoconus 32 HP:0000563
22 clinodactyly 32 HP:0030084
23 astigmatism 32 HP:0000483
24 hypermetropia 32 occasional (7.5%) HP:0000540
25 high palate 32 HP:0000218
26 blepharophimosis 32 HP:0000581
27 epicanthus 32 HP:0000286
28 keratoglobus 32 HP:0001119
29 decreased muscle mass 32 HP:0003199
30 chin dimple 56 Very frequent (99-80%)
31 firm muscles 32 HP:0003725
32 decreased facial expression 32 HP:0004673
33 duane anomaly 32 HP:0009921
34 limited wrist extension 32 HP:0006251
35 distal arthrogryposis 32 HP:0005684
36 decreased palmar creases 32 HP:0006184
37 restrictive ventilatory defect 32 HP:0002091
38 abnormality of retinal pigmentation 32 HP:0007703
39 protruding ear 32 HP:0000411
40 abnormality of the rib cage 32 HP:0001547
41 absent phalangeal crease 32 HP:0006109
42 dimple chin 32 hallmark (90%) HP:0010751

UMLS symptoms related to Arthrogryposis, Distal, Type 5:


ulnar deviation of the wrist, ophthalmoplegia

Drugs & Therapeutics for Arthrogryposis, Distal, Type 5

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Distal Arthrogryposis Type 2b 29
2 Oculomelic Amyoplasia 29

Anatomical Context for Arthrogryposis, Distal, Type 5

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

39
Lung, Skeletal Muscle, Eye

Publications for Arthrogryposis, Distal, Type 5

Variations for Arthrogryposis, Distal, Type 5

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

71
id Symbol AA change Variation ID SNP ID
1 PIEZO2 p.Ile802Phe VAR_070938 rs587777076
2 PIEZO2 p.Arg2718Leu VAR_071304 rs587777452
3 PIEZO2 p.Arg2718Pro VAR_071305 rs587777452
4 PIEZO2 p.Ser2739Pro VAR_071306 rs587777454
5 PIEZO2 p.Met712Val VAR_071817 rs587777453

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

6 (show all 22)
id 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 TNNI2 NM_003282.3(TNNI2): c.521G> A (p.Arg174Gln) single nucleotide variant Pathogenic rs104894311 GRCh37 Chromosome 11, 1862753: 1862753
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.499_501delGAG (p.Glu167del) deletion Pathogenic rs199474800 GRCh37 Chromosome 11, 1862731: 1862733
5 TPM2 NM_003289.3(TPM2): c.397C> T (p.Arg133Trp) single nucleotide variant Pathogenic rs137853305 GRCh37 Chromosome 9, 35685526: 35685526
6 MYH3 NM_002470.3(MYH3): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs121913619 GRCh37 Chromosome 17, 10553691: 10553691
7 MYH3 NM_002470.3(MYH3): c.2590_2592delCTC (p.Leu864del) deletion Pathogenic rs879255230 GRCh37 Chromosome 17, 10543403: 10543405
8 MYH3 NM_002470.3(MYH3): c.1123G> A (p.Glu375Lys) single nucleotide variant Pathogenic rs121913621 GRCh37 Chromosome 17, 10549042: 10549042
9 MYH3 NM_002470.3(MYH3): c.1385A> G (p.Asp462Gly) single nucleotide variant Pathogenic rs121913622 GRCh37 Chromosome 17, 10547693: 10547693
10 MYH3 NM_002470.3(MYH3): c.700G> A (p.Ala234Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121913623 GRCh37 Chromosome 17, 10551909: 10551909
11 PIEZO2 NM_022068.3(PIEZO2): c.2404A> T (p.Ile802Phe) single nucleotide variant Pathogenic rs587777076 GRCh37 Chromosome 18, 10784870: 10784870
12 PIEZO2 NM_022068.3(PIEZO2): c.8057G> A (p.Arg2686His) single nucleotide variant Pathogenic rs587777450 GRCh38 Chromosome 18, 10671729: 10671729
13 PIEZO2 NM_022068.3(PIEZO2): c.8153G> T (p.Arg2718Leu) single nucleotide variant Pathogenic rs587777452 GRCh38 Chromosome 18, 10671633: 10671633
14 PIEZO2 NM_022068.3(PIEZO2): c.8153G> C (p.Arg2718Pro) single nucleotide variant Pathogenic rs587777452 GRCh38 Chromosome 18, 10671633: 10671633
15 PIEZO2 NM_022068.3(PIEZO2): c.2134A> G (p.Met712Val) single nucleotide variant Pathogenic rs587777453 GRCh38 Chromosome 18, 10789114: 10789114
16 PIEZO2 NM_022068.3(PIEZO2): c.8215T> C (p.Ser2739Pro) single nucleotide variant Pathogenic rs587777454 GRCh38 Chromosome 18, 10671571: 10671571
17 PIEZO2 NM_022068.3(PIEZO2): c.8208delA (p.Tyr2737Ilefs) deletion Pathogenic rs878853135 GRCh38 Chromosome 18, 10671578: 10671578
18 PIEZO2 NM_022068.3(PIEZO2): c.8181_8183delAGA (p.Glu2727del) deletion Pathogenic rs587777077 GRCh37 Chromosome 18, 10671600: 10671602
19 PIEZO2 NM_022068.3(PIEZO2): c.7067C> T (p.Thr2356Met) single nucleotide variant Pathogenic rs878853137 GRCh37 Chromosome 18, 10689744: 10689744
20 PIEZO2 NM_022068.3(PIEZO2): c.6668C> T (p.Ser2223Leu) single nucleotide variant Pathogenic rs878853138 GRCh37 Chromosome 18, 10696255: 10696255
21 PIEZO2 NM_022068.3(PIEZO2): c.6662C> T (p.Thr2221Ile) single nucleotide variant Pathogenic rs878853139 GRCh37 Chromosome 18, 10696261: 10696261
22 PIEZO2 NM_022068.3(PIEZO2): c.2993T> C (p.Met998Thr) single nucleotide variant Pathogenic rs878853140 GRCh38 Chromosome 18, 10762977: 10762977

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 regulation of muscle contraction GO:0006937 9.26 TNNI2 TNNT3
2 regulation of ATPase activity GO:0043462 9.16 TNNT3 TPM2
3 skeletal muscle contraction GO:0003009 9.13 MYH3 TNNI2 TNNT3
4 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:

id Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 8.96 MYH3 TPM2
2 actin binding GO:0003779 8.92 MYH3 TNNI2 TNNT3 TPM2

Sources for Arthrogryposis, Distal, Type 5

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16 ExPASy
18 FMA
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30 HGMD
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66 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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