ORPHA:707937
Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome
Synonyms: DAIPT · Distal arthrogryposis with impaired proprioception and touch
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome | DAIPT · Distal arthrogryposis with impaired proprioception and touch |
| fr | Syndrome d'arthrogrypose distale-scoliose progressive-deformation du pouce-altération de la proprioception | DAIPT |
| de | Distale Arthrogrypose-progressive Skoliose-Daumenfehlbildung-gestörte-Propriozeption-Syndrom | DAIPT · Distale Arthrogrypose mit Störung des Tastsinns und der Propriozeption |
| es | Síndrome de artrogriposis distal-escoliosis progresiva-deformidad del pulgar-alteraciones propioceptivas | Artrogriposis distal con alteraciones propioceptivas y del tacto · DAIPT |
| it | Sindrome artrogriposi distale-scoliosi progressiva-deformità dei pollici-compromissione della propriocezione | DAIPT · Artrogriposi distale con compromissione della propriocezione e del tatto |
| nl | Distale artrogrypose - progressieve scoliose - deformiteit van duim - verstoorde proprioceptie-syndroom | DAIPT · Distale artrogrypose - progressieve scoliose - duimmisvorming - verminderde positiezin-syndroom · Distale artrogrypose met verminderde positiezin en tastzin · Distale artrogrypose met verstoorde proprioceptie en tastzin |
| pt | Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome | |
| pl | Zespół artrogrypozy dystalnej, postępującej skoliozy, deformacji kciuka i upośledzonej propriocepcjipośledzonej propriocepcji | = en |
| cs | Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617146 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:97120Distal arthrogryposis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:207015Rare hereditary disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIEZO2 | Disease-causing germline mutation(s) in | Assessed | HGNC:26270 | ENSG00000154864 | 613629 | 18p11.22-p11.21 | piezo type mechanosensitive ion channel component 2 | 27843126[PMID]_33995476[PMID]_30800044[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/707937
- This record as JSON: /data/d/707937.json