DAIPT
MCID: ART136
MIFTS: 21

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 58 76 30 6
Daipt 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first decade


HPO:

33
arthrogryposis, distal, with impaired proprioception and touch:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arthrogryposis, Distal, with Impaired Proprioception and Touch

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include bone, and related phenotypes are dysarthria and respiratory insufficiency

OMIM : 58 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:

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

Symptoms via clinical synopsis from OMIM:

58
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

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 Head:
poor head control

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

Skeletal:
contractures, congenital

Skeletal Spine:
scoliosis

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

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

Head And Neck Face:
myopathic facies

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

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 30 PIEZO2

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

MalaCards organs/tissues related to Arthrogryposis, Distal, with Impaired Proprioception and Touch:

42
Bone

Publications for Arthrogryposis, Distal, with Impaired Proprioception and Touch

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

# Title Authors Year
1
Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures. ( 27607563 )
2017
2
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. ( 27843126 )
2016
3
The Role of PIEZO2 in Human Mechanosensation. ( 27653382 )
2016

Variations for Arthrogryposis, Distal, with Impaired Proprioception and Touch

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

76
# Symbol AA change Variation ID SNP ID
1 PIEZO2 p.Arg1685Pro VAR_077843 rs886039823

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

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIEZO2 NM_022068.3(PIEZO2): c.5053C> T (p.Arg1685Ter) single nucleotide variant Likely pathogenic rs886039821 GRCh37 Chromosome 18, 10715677: 10715677
2 PIEZO2 NM_022068.3(PIEZO2): c.5053C> T (p.Arg1685Ter) single nucleotide variant Likely pathogenic rs886039821 GRCh38 Chromosome 18, 10715679: 10715679
3 PIEZO2 NM_022068.3(PIEZO2): c.4723C> T (p.Arg1575Ter) single nucleotide variant Pathogenic rs886039822 GRCh38 Chromosome 18, 10736621: 10736621
4 PIEZO2 NM_022068.3(PIEZO2): c.4723C> T (p.Arg1575Ter) single nucleotide variant Pathogenic rs886039822 GRCh37 Chromosome 18, 10736619: 10736619
5 PIEZO2 NM_022068.3(PIEZO2): c.5054G> C (p.Arg1685Pro) single nucleotide variant Pathogenic rs886039823 GRCh38 Chromosome 18, 10715678: 10715678
6 PIEZO2 NM_022068.3(PIEZO2): c.5054G> C (p.Arg1685Pro) single nucleotide variant Pathogenic rs886039823 GRCh37 Chromosome 18, 10715676: 10715676
7 PIEZO2 NM_022068.3(PIEZO2): c.2708C> G (p.Ser903Ter) single nucleotide variant Pathogenic rs886039824 GRCh38 Chromosome 18, 10773414: 10773414
8 PIEZO2 NM_022068.3(PIEZO2): c.2708C> G (p.Ser903Ter) single nucleotide variant Pathogenic rs886039824 GRCh37 Chromosome 18, 10773412: 10773412
9 PIEZO2 NM_022068.3(PIEZO2): c.5621delT (p.Leu1874Argfs) deletion Pathogenic rs1057519425 GRCh37 Chromosome 18, 10705373: 10705373
10 PIEZO2 NM_022068.3(PIEZO2): c.5621delT (p.Leu1874Argfs) deletion Pathogenic rs1057519425 GRCh38 Chromosome 18, 10705375: 10705375
11 PIEZO2 NM_022068.3(PIEZO2): c.1550_1552delGCTinsCGAA (p.Ser517Thrfs) indel Pathogenic rs1057519426 GRCh37 Chromosome 18, 10794976: 10794978
12 PIEZO2 NM_022068.3(PIEZO2): c.1550_1552delGCTinsCGAA (p.Ser517Thrfs) indel Pathogenic rs1057519426 GRCh38 Chromosome 18, 10794978: 10794980
13 PIEZO2 NM_022068.3(PIEZO2): c.3020_3030del (p.Pro1007Leufs) deletion Pathogenic rs1057519626 GRCh38 Chromosome 18, 10762940: 10762950
14 PIEZO2 NM_022068.3(PIEZO2): c.3020_3030del (p.Pro1007Leufs) deletion Pathogenic rs1057519626 GRCh37 Chromosome 18, 10762938: 10762948
15 PIEZO2 NM_022068.3(PIEZO2): c.6136G> C (p.Glu2046Gln) single nucleotide variant Uncertain significance rs200276831 GRCh37 Chromosome 18, 10699142: 10699142
16 PIEZO2 NM_022068.3(PIEZO2): c.6136G> C (p.Glu2046Gln) single nucleotide variant Uncertain significance rs200276831 GRCh38 Chromosome 18, 10699144: 10699144
17 PIEZO2 NM_022068.3(PIEZO2): c.5895G> A (p.Trp1965Ter) single nucleotide variant Uncertain significance rs1555627917 GRCh38 Chromosome 18, 10704418: 10704418
18 PIEZO2 NM_022068.3(PIEZO2): c.5895G> A (p.Trp1965Ter) single nucleotide variant Uncertain significance rs1555627917 GRCh37 Chromosome 18, 10704416: 10704416
19 PIEZO2 NM_022068.3(PIEZO2): c.1867G> A (p.Glu623Lys) single nucleotide variant Uncertain significance rs1555647548 GRCh37 Chromosome 18, 10791214: 10791214
20 PIEZO2 NM_022068.3(PIEZO2): c.1867G> A (p.Glu623Lys) single nucleotide variant Uncertain significance rs1555647548 GRCh38 Chromosome 18, 10791216: 10791216
21 PIEZO2 NM_022068.3(PIEZO2): c.5083-1G> A single nucleotide variant Pathogenic rs1555630216 GRCh37 Chromosome 18, 10714929: 10714929
22 PIEZO2 NM_022068.3(PIEZO2): c.5083-1G> A single nucleotide variant Pathogenic rs1555630216 GRCh38 Chromosome 18, 10714931: 10714931
23 PIEZO2 NM_022068.3(PIEZO2): c.1528-1G> A single nucleotide variant Likely pathogenic rs1555648288 GRCh37 Chromosome 18, 10795001: 10795001
24 PIEZO2 NM_022068.3(PIEZO2): c.1528-1G> A single nucleotide variant Likely pathogenic rs1555648288 GRCh38 Chromosome 18, 10795003: 10795003
25 PIEZO2 NM_022068.3(PIEZO2): c.7144C> T (p.Arg2382Trp) single nucleotide variant Likely pathogenic rs757200280 GRCh37 Chromosome 18, 10689667: 10689667
26 PIEZO2 NM_022068.3(PIEZO2): c.7144C> T (p.Arg2382Trp) single nucleotide variant Likely pathogenic rs757200280 GRCh38 Chromosome 18, 10689669: 10689669
27 PIEZO2 NM_022068.3(PIEZO2): c.5884C> T (p.Arg1962Cys) single nucleotide variant Uncertain significance rs577065337 GRCh38 Chromosome 18, 10704429: 10704429
28 PIEZO2 NM_022068.3(PIEZO2): c.5884C> T (p.Arg1962Cys) single nucleotide variant Uncertain significance rs577065337 GRCh37 Chromosome 18, 10704427: 10704427
29 PIEZO2 NM_022068.3(PIEZO2): c.152C> T (p.Thr51Met) single nucleotide variant Uncertain significance rs371432372 GRCh37 Chromosome 18, 11066134: 11066134
30 PIEZO2 NM_022068.3(PIEZO2): c.152C> T (p.Thr51Met) single nucleotide variant Uncertain significance rs371432372 GRCh38 Chromosome 18, 11066135: 11066135
31 PIEZO2 NM_022068.3(PIEZO2): c.4073C> T (p.Thr1358Met) single nucleotide variant Uncertain significance rs777349822 GRCh37 Chromosome 18, 10752653: 10752653
32 PIEZO2 NM_022068.3(PIEZO2): c.4073C> T (p.Thr1358Met) single nucleotide variant Uncertain significance rs777349822 GRCh38 Chromosome 18, 10752655: 10752655

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

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