DAIPT
MCID: ART136
MIFTS: 22

Arthrogryposis, Distal, with Impaired Proprioception and Touch (DAIPT)

Categories: Bone diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Arthrogryposis, Distal, with Impaired Proprioception and Touch

MalaCards integrated aliases for Arthrogryposis, Distal, with Impaired Proprioception and Touch:

Name: Arthrogryposis, Distal, with Impaired Proprioception and Touch 57 74 29 6
Daipt 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first decade


HPO:

32
arthrogryposis, distal, with impaired proprioception and touch:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 57 617146
MeSH 44 D001176

Summaries for Arthrogryposis, Distal, with Impaired Proprioception and Touch

UniProtKB/Swiss-Prot : 74 Arthrogryposis, distal, with impaired proprioception and touch: 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. DAIPT is an autosomal recessive disease characterized by selective loss of discriminative touch perception, ataxia, difficulty walking, dysmetria, and progressive skeletal contractures.

MalaCards based summary : Arthrogryposis, Distal, with Impaired Proprioception and Touch, is also known as daipt. An important gene associated with Arthrogryposis, Distal, with Impaired Proprioception and Touch is PIEZO2 (Piezo Type Mechanosensitive Ion Channel Component 2). Related phenotypes are dysarthria and respiratory insufficiency

OMIM : 57 Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016). (617146)

Related Diseases for Arthrogryposis, Distal, with Impaired Proprioception and Touch

Symptoms & Phenotypes for Arthrogryposis, Distal, with Impaired Proprioception and Touch

Human phenotypes related to Arthrogryposis, Distal, with Impaired Proprioception and Touch:

32 (show all 33)
# Description HPO Frequency HPO Source Accession
1 dysarthria 32 very rare (1%) HP:0001260
2 respiratory insufficiency 32 very rare (1%) HP:0002093
3 scoliosis 32 very rare (1%) HP:0002650
4 global developmental delay 32 very rare (1%) HP:0001263
5 pes planus 32 very rare (1%) HP:0001763
6 neonatal hypotonia 32 very rare (1%) HP:0001319
7 short stature 32 very rare (1%) HP:0004322
8 gastroesophageal reflux 32 very rare (1%) HP:0002020
9 feeding difficulties in infancy 32 very rare (1%) HP:0008872
10 areflexia 32 very rare (1%) HP:0001284
11 motor delay 32 very rare (1%) HP:0001270
12 arachnodactyly 32 very rare (1%) HP:0001166
13 sandal gap 32 very rare (1%) HP:0001852
14 upper limb muscle weakness 32 very rare (1%) HP:0003484
15 lower limb muscle weakness 32 very rare (1%) HP:0007340
16 camptodactyly 32 very rare (1%) HP:0012385
17 elevated serum creatine kinase 32 very rare (1%) HP:0003236
18 high palate 32 HP:0000218
19 hip dysplasia 32 HP:0001385
20 wide nasal bridge 32 HP:0000431
21 flexion contracture 32 HP:0001371
22 generalized hypotonia 32 HP:0001290
23 sensory axonal neuropathy 32 HP:0003390
24 poor fine motor coordination 32 HP:0007010
25 inability to walk 32 HP:0002540
26 talipes equinovarus 32 HP:0001762
27 thin upper lip vermilion 32 HP:0000219
28 long nose 32 HP:0003189
29 myopathic facies 32 HP:0002058
30 poor head control 32 HP:0002421
31 sensory ataxia 32 HP:0010871
32 broad-based gait 32 HP:0002136
33 delayed ability to walk 32 HP:0031936

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
inability to walk
sensory ataxia
delayed motor development
delayed walking
more
Head And Neck Nose:
wide nasal bridge
long nose

Growth Height:
short stature

Skeletal Hands:
arachnodactyly
camptodactyly
finger contractures
hand contractures
duck bill deformity of the thumb

Head And Neck Head:
poor head control

Muscle Soft Tissue:
hypotonia
muscle weakness, lower limbs more affected than upper limbs
muscle atrophy, lower limbs more affected than upper limbs
muscle weakness is primarily distal

Skeletal:
contractures, congenital

Skeletal Spine:
scoliosis

Skeletal Feet:
pes planus
foot deformities
pes equinovarus
sandal gap deformity

Neurologic Peripheral Nervous System:
areflexia
sensory axonal neuropathy, mild
decreased or absent vibratory sense
decreased or absent light touch sense
decreased or absent proprioception
more
Head And Neck Face:
myopathic facies

Head And Neck Mouth:
thin upper lip
high-arched palate

Respiratory:
respiratory insufficiency, neonatal

Skeletal Pelvis:
congenital hip dysplasia

Clinical features from OMIM:

617146

Drugs & Therapeutics for Arthrogryposis, Distal, with Impaired Proprioception and Touch

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Distal, with Impaired Proprioception and Touch

Genetic Tests for Arthrogryposis, Distal, with Impaired Proprioception and Touch

Genetic tests related to Arthrogryposis, Distal, with Impaired Proprioception and Touch:

# Genetic test Affiliating Genes
1 Arthrogryposis, Distal, with Impaired Proprioception and Touch 29 PIEZO2

Anatomical Context for Arthrogryposis, Distal, with Impaired Proprioception and Touch

Publications for Arthrogryposis, Distal, with Impaired Proprioception and Touch

Articles related to Arthrogryposis, Distal, with Impaired Proprioception and Touch:

# Title Authors PMID Year
1
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 8 71
27974811 2017
2
Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures. 8 71
27607563 2017
3
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. 8 71
27843126 2016
4
The Role of PIEZO2 in Human Mechanosensation. 8 71
27653382 2016
5
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. 38
30800044 2019

Variations for Arthrogryposis, Distal, with Impaired Proprioception and Touch

ClinVar genetic disease variations for Arthrogryposis, Distal, with Impaired Proprioception and Touch:

6 (show all 18)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PIEZO2 NM_022068.3(PIEZO2): c.5621del (p.Leu1874fs) deletion Pathogenic rs1057519425 18:10705373-10705373 18:10705375-10705375
2 PIEZO2 NM_022068.3(PIEZO2): c.1550_1552delinsCGAA (p.Ser517fs) indel Pathogenic rs1057519426 18:10794976-10794978 18:10794978-10794980
3 PIEZO2 NM_022068.3(PIEZO2): c.3020_3030del (p.Pro1007fs) deletion Pathogenic rs1057519626 18:10762938-10762948 18:10762940-10762950
4 PIEZO2 NM_022068.3(PIEZO2): c.5083-1G> A single nucleotide variant Pathogenic rs1555630216 18:10714929-10714929 18:10714931-10714931
5 PIEZO2 NM_022068.3(PIEZO2): c.4723C> T (p.Arg1575Ter) single nucleotide variant Pathogenic rs886039822 18:10736619-10736619 18:10736621-10736621
6 PIEZO2 NM_022068.3(PIEZO2): c.5054G> C (p.Arg1685Pro) single nucleotide variant Pathogenic rs886039823 18:10715676-10715676 18:10715678-10715678
7 PIEZO2 NM_022068.3(PIEZO2): c.2708C> G (p.Ser903Ter) single nucleotide variant Pathogenic rs886039824 18:10773412-10773412 18:10773414-10773414
8 PIEZO2 NM_022068.3(PIEZO2): c.1384C> T (p.Arg462Ter) single nucleotide variant Pathogenic 18:10797515-10797515 18:10797517-10797517
9 PIEZO2 NM_022068.3(PIEZO2): c.2170-2A> C single nucleotide variant Pathogenic 18:10787184-10787184 18:10787186-10787186
10 PIEZO2 NM_022068.3(PIEZO2): c.5053C> T (p.Arg1685Ter) single nucleotide variant Likely pathogenic rs886039821 18:10715677-10715677 18:10715679-10715679
11 PIEZO2 NM_022068.3(PIEZO2): c.1528-1G> A single nucleotide variant Likely pathogenic rs1555648288 18:10795001-10795001 18:10795003-10795003
12 PIEZO2 NM_022068.3(PIEZO2): c.7144C> T (p.Arg2382Trp) single nucleotide variant Likely pathogenic rs757200280 18:10689667-10689667 18:10689669-10689669
13 PIEZO2 NM_022068.3(PIEZO2): c.5884C> T (p.Arg1962Cys) single nucleotide variant Uncertain significance rs577065337 18:10704427-10704427 18:10704429-10704429
14 PIEZO2 NM_022068.3(PIEZO2): c.152C> T (p.Thr51Met) single nucleotide variant Uncertain significance rs371432372 18:11066134-11066134 18:11066135-11066135
15 PIEZO2 NM_022068.3(PIEZO2): c.4073C> T (p.Thr1358Met) single nucleotide variant Uncertain significance rs777349822 18:10752653-10752653 18:10752655-10752655
16 PIEZO2 NM_022068.3(PIEZO2): c.6136G> C (p.Glu2046Gln) single nucleotide variant Uncertain significance rs200276831 18:10699142-10699142 18:10699144-10699144
17 PIEZO2 NM_022068.3(PIEZO2): c.5895G> A (p.Trp1965Ter) single nucleotide variant Uncertain significance rs1555627917 18:10704416-10704416 18:10704418-10704418
18 PIEZO2 NM_022068.3(PIEZO2): c.1867G> A (p.Glu623Lys) single nucleotide variant Uncertain significance rs1555647548 18:10791214-10791214 18:10791216-10791216

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, with Impaired Proprioception and Touch:

74
# Symbol AA change Variation ID SNP ID
1 PIEZO2 p.Arg1685Pro VAR_077843 rs886039823

Expression for Arthrogryposis, Distal, with Impaired Proprioception and Touch

Search GEO for disease gene expression data for Arthrogryposis, Distal, with Impaired Proprioception and Touch.

Pathways for Arthrogryposis, Distal, with Impaired Proprioception and Touch

GO Terms for Arthrogryposis, Distal, with Impaired Proprioception and Touch

Sources for Arthrogryposis, Distal, with Impaired Proprioception and Touch

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