MCID: ART136
MIFTS: 17

Arthrogryposis, Distal, with Impaired Proprioception and Touch

Categories: Genetic 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 75 29 6
Daipt 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first decade


HPO:

32
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 : 75 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 high palate and thin upper lip vermilion

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

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

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 Pelvis:
congenital hip dysplasia

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:
contractures, congenital


Clinical features from OMIM:

617146

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

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 thin upper lip vermilion 32 HP:0000219
3 wide nasal bridge 32 HP:0000431
4 arachnodactyly 32 HP:0001166
5 dysarthria 32 HP:0001260
6 motor delay 32 HP:0001270
7 areflexia 32 HP:0001284
8 generalized hypotonia 32 HP:0001290
9 hip dysplasia 32 HP:0001385
10 talipes equinovarus 32 HP:0001762
11 pes planus 32 HP:0001763
12 myopathic facies 32 HP:0002058
13 respiratory insufficiency 32 HP:0002093
14 broad-based gait 32 HP:0002136
15 poor head control 32 HP:0002421
16 inability to walk 32 HP:0002540
17 scoliosis 32 HP:0002650
18 long nose 32 HP:0003189
19 sensory axonal neuropathy 32 HP:0003390
20 short stature 32 HP:0004322
21 sensory ataxia 32 HP:0010871
22 camptodactyly 32 HP:0012385

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

Variations for Arthrogryposis, Distal, with Impaired Proprioception and Touch

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

75
# 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 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIEZO2 NM_022068.3(PIEZO2): c.5053C> T (p.Arg1685Ter) single nucleotide variant Pathogenic rs886039821 GRCh37 Chromosome 18, 10715677: 10715677
2 PIEZO2 NM_022068.3(PIEZO2): c.5053C> T (p.Arg1685Ter) single nucleotide variant 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_3030delCTGAGAACTTC (p.Pro1007Leufs) deletion Pathogenic rs1057519626 GRCh38 Chromosome 18, 10762940: 10762950
14 PIEZO2 NM_022068.3(PIEZO2): c.3020_3030delCTGAGAACTTC (p.Pro1007Leufs) deletion Pathogenic rs1057519626 GRCh37 Chromosome 18, 10762938: 10762948
15 PIEZO2 NM_022068.3(PIEZO2): c.5895G> A (p.Trp1965Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 10704418: 10704418
16 PIEZO2 NM_022068.3(PIEZO2): c.5895G> A (p.Trp1965Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 10704416: 10704416
17 PIEZO2 NM_022068.2(PIEZO2): c.5083-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 18, 10714929: 10714929
18 PIEZO2 NM_022068.2(PIEZO2): c.5083-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 18, 10714931: 10714931
19 PIEZO2 NM_022068.2(PIEZO2): c.1528-1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 18, 10795003: 10795003
20 PIEZO2 NM_022068.2(PIEZO2): c.1528-1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 18, 10795001: 10795001
21 PIEZO2 NM_022068.3(PIEZO2): c.7144C> T (p.Arg2382Trp) single nucleotide variant Likely pathogenic rs757200280 GRCh37 Chromosome 18, 10689667: 10689667
22 PIEZO2 NM_022068.3(PIEZO2): c.7144C> T (p.Arg2382Trp) single nucleotide variant Likely pathogenic rs757200280 GRCh38 Chromosome 18, 10689669: 10689669

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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