DAIPT
MCID: ART136
MIFTS: 24

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 56 73 29 6
Daipt 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first decade


HPO:

31
arthrogryposis, distal, with impaired proprioception and touch:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Arthrogryposis, Distal, with Impaired Proprioception and Touch

UniProtKB/Swiss-Prot : 73 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 global developmental delay and scoliosis

OMIM : 56 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:

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

Symptoms via clinical synopsis from OMIM:

56
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

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

Muscle Soft Tissue:
hypotonia
variation in fiber size
myopathic changes seen on muscle biopsy
muscle weakness, lower limbs more affected than upper limbs
muscle atrophy, lower limbs more affected than upper limbs
more
Skeletal:
contractures, congenital

Head And Neck Nose:
wide nasal bridge
long nose

Growth Height:
short stature

Neurologic Central Nervous System:
dysarthria
inability to walk
sensory ataxia
delayed motor development
delayed walking
more
Head And Neck Head:
poor head control

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. 6 56
27974811 2017
2
Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures. 6 56
27607563 2017
3
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. 56 6
27843126 2016
4
The Role of PIEZO2 in Human Mechanosensation. 56 6
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. 61
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 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIEZO2 NM_022068.3(PIEZO2):c.5083-1G>ASNV Pathogenic 489219 rs1555630216 18:10714929-10714929 18:10714931-10714931
2 PIEZO2 NM_022068.3(PIEZO2):c.1384C>T (p.Arg462Ter)SNV Pathogenic 632546 rs1568069621 18:10797515-10797515 18:10797517-10797517
3 PIEZO2 NM_022068.3(PIEZO2):c.2170-2A>CSNV Pathogenic 638404 18:10787184-10787184 18:10787186-10787186
4 PIEZO2 NM_022068.3(PIEZO2):c.3412C>T (p.Arg1138Ter)SNV Pathogenic 803474 18:10759871-10759871 18:10759873-10759873
5 PIEZO2 NM_022068.3(PIEZO2):c.1924G>T (p.Glu642Ter)SNV Pathogenic 803475 18:10789322-10789322 18:10789324-10789324
6 PIEZO2 NM_022068.3(PIEZO2):c.4723C>T (p.Arg1575Ter)SNV Pathogenic 265868 rs886039822 18:10736619-10736619 18:10736621-10736621
7 PIEZO2 NM_022068.3(PIEZO2):c.5054G>C (p.Arg1685Pro)SNV Pathogenic 265869 rs886039823 18:10715676-10715676 18:10715678-10715678
8 PIEZO2 NM_022068.3(PIEZO2):c.2708C>G (p.Ser903Ter)SNV Pathogenic 265870 rs886039824 18:10773412-10773412 18:10773414-10773414
9 PIEZO2 NM_022068.3(PIEZO2):c.5621del (p.Leu1874fs)deletion Pathogenic 374902 rs1057519425 18:10705373-10705373 18:10705375-10705375
10 PIEZO2 NM_022068.3(PIEZO2):c.1550_1552delinsCGAA (p.Ser517fs)indel Pathogenic 374903 rs1057519426 18:10794976-10794978 18:10794978-10794980
11 PIEZO2 NM_022068.3(PIEZO2):c.3020_3030del (p.Pro1007fs)deletion Pathogenic 374904 rs1057519626 18:10762938-10762948 18:10762940-10762950
12 PIEZO2 NM_022068.3(PIEZO2):c.5716C>T (p.Arg1906Ter)SNV Likely pathogenic 800882 18:10704595-10704595 18:10704597-10704597
13 PIEZO2 NM_022068.3(PIEZO2):c.4167_4168CA[1] (p.Thr1390fs)short repeat Likely pathogenic 800806 18:10750108-10750109 18:10750110-10750111
14 PIEZO2 NM_022068.3(PIEZO2):c.1528-1G>ASNV Likely pathogenic 489220 rs1555648288 18:10795001-10795001 18:10795003-10795003
15 PIEZO2 NM_022068.3(PIEZO2):c.5053C>T (p.Arg1685Ter)SNV Likely pathogenic 265867 rs886039821 18:10715677-10715677 18:10715679-10715679
16 PIEZO2 NM_022068.3(PIEZO2):c.5884C>T (p.Arg1962Cys)SNV Conflicting interpretations of pathogenicity 547940 rs577065337 18:10704427-10704427 18:10704429-10704429
17 PIEZO2 NM_022068.3(PIEZO2):c.152C>T (p.Thr51Met)SNV Uncertain significance 547896 rs371432372 18:11066134-11066134 18:11066135-11066135
18 PIEZO2 NM_022068.3(PIEZO2):c.4073C>T (p.Thr1358Met)SNV Uncertain significance 548506 rs777349822 18:10752653-10752653 18:10752655-10752655
19 PIEZO2 NM_022068.3(PIEZO2):c.7144C>T (p.Arg2382Trp)SNV Uncertain significance 522872 rs757200280 18:10689667-10689667 18:10689669-10689669
20 PIEZO2 NM_022068.3(PIEZO2):c.6136G>C (p.Glu2046Gln)SNV Uncertain significance 436313 rs200276831 18:10699142-10699142 18:10699144-10699144
21 PIEZO2 NM_022068.3(PIEZO2):c.5895G>A (p.Trp1965Ter)SNV Uncertain significance 440912 rs1555627917 18:10704416-10704416 18:10704418-10704418
22 PIEZO2 NM_022068.3(PIEZO2):c.1867G>A (p.Glu623Lys)SNV Uncertain significance 444425 rs1555647548 18:10791214-10791214 18:10791216-10791216
23 PIEZO2 NM_022068.3(PIEZO2):c.6149C>A (p.Ala2050Asp)SNV Benign 261521 rs113682091 18:10699129-10699129 18:10699131-10699131

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

73
# 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

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