DA5
MCID: ART119
MIFTS: 34

Arthrogryposis, Distal, Type 5 (DA5)

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 5

MalaCards integrated aliases for Arthrogryposis, Distal, Type 5:

Name: Arthrogryposis, Distal, Type 5 58 41
Oculomelic Amyoplasia 58 77 54 60 76 30 6 74
Arthrogryposis with Oculomotor Limitation and Electroretinal Abnormalities 58 54 76
Distal Arthrogryposis Type Iib 54 60 76
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome 54 60
Distal Arthrogryposis with Ophthalmoplegia 54 60
Distal Arthrogryposis Type 5 54 60
Daiib 58 76
Da5 58 76
Arthogryposis with Oculomotor Limitation and Electroretinal Abnormalities 54
Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome 54
Arthrogryposis Ophthalmoplegia Retinopathy 54
Arthrogryposis, Distal, Type Iib; Daiib 58
Arthrogryposis, Distal, Type Iib 58
Arthrogryposis, Distal, Type 2b 74
Arthrogryposis, Distal, 5 76

Characteristics:

Orphanet epidemiological data:

60
arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
arthrogryposis, distal, type 5:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Arthrogryposis, Distal, Type 5

OMIM : 58 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 2b1 and arthrogryposis, distal, type 3, and has symptoms including ophthalmoplegia and ulnar deviation of the wrist. An important gene associated with Arthrogryposis, Distal, Type 5 is PIEZO2 (Piezo Type Mechanosensitive Ion Channel Component 2). Affiliated tissues include lung, skeletal muscle and eye, and related phenotypes are pectus excavatum and ptosis

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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.

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

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

Human phenotypes related to Arthrogryposis, Distal, Type 5:

60 33 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000767
2 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
3 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
4 ophthalmoplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000602
5 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490
6 dimple chin 33 hallmark (90%) HP:0010751
7 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
8 macrotia 60 33 frequent (33%) Frequent (79-30%) HP:0000400
9 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
10 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
11 abnormal electroretinogram 60 33 frequent (33%) Frequent (79-30%) HP:0000512
12 arachnodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001166
13 triangular face 60 33 frequent (33%) Frequent (79-30%) HP:0000325
14 deviation of finger 60 33 frequent (33%) Frequent (79-30%) HP:0004097
15 bilateral talipes equinovarus 60 33 frequent (33%) Frequent (79-30%) HP:0001776
16 congenital finger flexion contractures 60 33 frequent (33%) Frequent (79-30%) HP:0005879
17 absent palmar crease 60 33 frequent (33%) Frequent (79-30%) HP:0010489
18 scoliosis 33 occasional (7.5%) HP:0002650
19 hypermetropia 33 occasional (7.5%) HP:0000540
20 clinodactyly 33 HP:0030084
21 high palate 33 HP:0000218
22 short stature 33 HP:0004322
23 abnormality of retinal pigmentation 33 HP:0007703
24 decreased muscle mass 33 HP:0003199
25 epicanthus 33 HP:0000286
26 protruding ear 33 HP:0000411
27 arthrogryposis multiplex congenita 33 HP:0002804
28 blepharophimosis 33 HP:0000581
29 keratoconus 33 HP:0000563
30 astigmatism 33 HP:0000483
31 chin dimple 60 Very frequent (99-80%)
32 keratoglobus 33 HP:0001119
33 restrictive ventilatory defect 33 HP:0002091
34 decreased palmar creases 33 HP:0006184
35 duane anomaly 33 HP:0009921
36 decreased facial expression 33 HP:0004673
37 limited wrist extension 33 HP:0006251
38 firm muscles 33 HP:0003725
39 distal arthrogryposis 33 HP:0005684
40 abnormality of the rib cage 33 HP:0001547
41 absent phalangeal crease 33 HP:0006109

Symptoms via clinical synopsis from OMIM:

58
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Head And Neck Eyes:
ptosis
strabismus
abnormal electroretinogram
ophthalmoplegia
blepharophimosis
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
long fingers
camptodactyly
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

UMLS symptoms related to Arthrogryposis, Distal, Type 5:


ophthalmoplegia, ulnar deviation of the wrist

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 Oculomelic Amyoplasia 30 PIEZO2

Anatomical Context for Arthrogryposis, Distal, Type 5

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

42
Lung, Skeletal Muscle, Eye, Bone

Publications for Arthrogryposis, Distal, Type 5

Articles related to Arthrogryposis, Distal, Type 5:

# Title Authors Year
1
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. ( 24726473 )
2014
2
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. ( 23487782 )
2013
3
Pulmonary disease is a component of distal arthrogryposis type 5. ( 17345626 )
2007
4
Distal arthrogryposis type IIB: unreported ophthalmic findings. ( 15103714 )
2004
5
Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIB. ( 11146470 )
2000
6
Distal arthrogryposis type IIB: probable autosomal recessive inheritance. ( 10466425 )
1999
7
Distal arthrogryposis type IIB: further clinical delineation and 54-year follow-up of an index case. ( 8533802 )
1995
8
A new form of autosomal dominant arthrogryposis. ( 1941966 )
1991
9
Distal arthrogryposis type IIB in a girl: autosomal recessive inheritance? ( 6535857 )
1984

Variations for Arthrogryposis, Distal, Type 5

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

76
# 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 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIEZO2 NM_022068.3(PIEZO2): c.2404A> T (p.Ile802Phe) single nucleotide variant Pathogenic rs587777076 GRCh37 Chromosome 18, 10784870: 10784870
2 PIEZO2 NM_022068.3(PIEZO2): c.2404A> T (p.Ile802Phe) single nucleotide variant Pathogenic rs587777076 GRCh38 Chromosome 18, 10784872: 10784872
3 PIEZO2 NM_022068.3(PIEZO2): c.8057G> A (p.Arg2686His) single nucleotide variant Pathogenic rs587777450 GRCh38 Chromosome 18, 10671729: 10671729
4 PIEZO2 NM_022068.3(PIEZO2): c.8057G> A (p.Arg2686His) single nucleotide variant Pathogenic rs587777450 GRCh37 Chromosome 18, 10671726: 10671726
5 PIEZO2 NM_022068.3(PIEZO2): c.8153G> T (p.Arg2718Leu) single nucleotide variant Pathogenic rs587777452 GRCh38 Chromosome 18, 10671633: 10671633
6 PIEZO2 NM_022068.3(PIEZO2): c.8153G> T (p.Arg2718Leu) single nucleotide variant Pathogenic rs587777452 GRCh37 Chromosome 18, 10671630: 10671630
7 PIEZO2 NM_022068.3(PIEZO2): c.8153G> C (p.Arg2718Pro) single nucleotide variant Pathogenic rs587777452 GRCh38 Chromosome 18, 10671633: 10671633
8 PIEZO2 NM_022068.3(PIEZO2): c.8153G> C (p.Arg2718Pro) single nucleotide variant Pathogenic rs587777452 GRCh37 Chromosome 18, 10671630: 10671630
9 PIEZO2 NM_022068.3(PIEZO2): c.2134A> G (p.Met712Val) single nucleotide variant Pathogenic rs587777453 GRCh38 Chromosome 18, 10789114: 10789114
10 PIEZO2 NM_022068.3(PIEZO2): c.2134A> G (p.Met712Val) single nucleotide variant Pathogenic rs587777453 GRCh37 Chromosome 18, 10789112: 10789112
11 PIEZO2 NM_022068.3(PIEZO2): c.8215T> C (p.Ser2739Pro) single nucleotide variant Pathogenic rs587777454 GRCh38 Chromosome 18, 10671571: 10671571
12 PIEZO2 NM_022068.3(PIEZO2): c.8215T> C (p.Ser2739Pro) single nucleotide variant Pathogenic rs587777454 GRCh37 Chromosome 18, 10671568: 10671568
13 PIEZO2 NM_022068.3(PIEZO2): c.6136G> C (p.Glu2046Gln) single nucleotide variant Uncertain significance rs200276831 GRCh37 Chromosome 18, 10699142: 10699142
14 PIEZO2 NM_022068.3(PIEZO2): c.6136G> C (p.Glu2046Gln) single nucleotide variant Uncertain significance rs200276831 GRCh38 Chromosome 18, 10699144: 10699144
15 PIEZO2 NM_022068.3(PIEZO2): c.2993T> C (p.Met998Thr) single nucleotide variant Pathogenic rs878853140 GRCh37 Chromosome 18, 10762975: 10762975
16 PIEZO2 NM_022068.3(PIEZO2): c.2993T> C (p.Met998Thr) single nucleotide variant Pathogenic rs878853140 GRCh38 Chromosome 18, 10762977: 10762977
17 PIEZO2 NM_022068.3(PIEZO2): c.6662C> T (p.Thr2221Ile) single nucleotide variant Pathogenic rs878853139 GRCh37 Chromosome 18, 10696261: 10696261
18 PIEZO2 NM_022068.3(PIEZO2): c.6662C> T (p.Thr2221Ile) single nucleotide variant Pathogenic rs878853139 GRCh38 Chromosome 18, 10696263: 10696263
19 PIEZO2 NM_022068.3(PIEZO2): c.6668C> T (p.Ser2223Leu) single nucleotide variant Pathogenic rs878853138 GRCh38 Chromosome 18, 10696257: 10696257
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.7067C> T (p.Thr2356Met) single nucleotide variant Pathogenic rs878853137 GRCh38 Chromosome 18, 10689746: 10689746
22 PIEZO2 NM_022068.3(PIEZO2): c.7067C> T (p.Thr2356Met) single nucleotide variant Pathogenic rs878853137 GRCh37 Chromosome 18, 10689744: 10689744
23 PIEZO2 NM_022068.3(PIEZO2): c.8181_8183del (p.Glu2727del) deletion Pathogenic rs1555621138 GRCh37 Chromosome 18, 10671600: 10671602
24 PIEZO2 NM_022068.3(PIEZO2): c.8181_8183del (p.Glu2727del) deletion Pathogenic rs1555621138 GRCh38 Chromosome 18, 10671603: 10671605
25 PIEZO2 NM_022068.3(PIEZO2): c.8208del (p.Tyr2737Ilefs) deletion Pathogenic rs878853135 GRCh37 Chromosome 18, 10671575: 10671575
26 PIEZO2 NM_022068.3(PIEZO2): c.8208del (p.Tyr2737Ilefs) deletion Pathogenic rs878853135 GRCh38 Chromosome 18, 10671578: 10671578

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

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