ORPHA:640
Hereditary neuropathy with liability to pressure palsies
Synonyms: Current pressure-sensitive neuropathy · HNPP · Heterozygous microdeletion 17p11.2p12 · Potato-grubbing palsy · Tomaculous neuropathy · Tulip-bulb digger's palsy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary neuropathy with liability to pressure palsies | Current pressure-sensitive neuropathy · HNPP · Heterozygous microdeletion 17p11.2p12 · Potato-grubbing palsy · Tomaculous neuropathy · Tulip-bulb digger's palsy |
| fr | Neuropathie héréditaire avec hypersensibilité à la pression | HNPP · Microdélétion hétérozygote 17p11.2p12 · Neuropathie tomaculaire |
| de | Hereditäre Neuropathie mit Neigung zu Drucklähmungen | HNPP · Hereditären Neuropathie mit Neigung zu Druckläsionen · Mikrodeletion 17p11.2p12, heterozygot · Neuropathie, tomakulöse |
| es | Neuropatía hereditaria con susceptibilidad a la parálisis por presión | HNPP · Microdeleción heterocigota 17p11.2p12 · Neuropatía sensitiva por presión · Neuropatía tomacular |
| it | Neuropatia ereditaria con predisposizione alle paralisi da pressione | HNPP · Microdelezione 17p11.2p12 eterozigote · Neuropatia sensibile alla pressione in atto · Neuropatia tomaculare · Paralisi da impianto di bulbi di tulipano · Paralisi da raccolta delle patate |
| nl | Erfelijke drukneuropathie | HNPP · Hereditaire neuropathie met vatbaarheid voor drukverlammingen · Heterozygote microdeletie 17p11.2p12 · Tomaculeuze neuropathie |
| pt | Neuropatia hereditária com suscetibilidade a paralisia por pressão | HNPP · Neuropatia tumacolosa · Polineuropatia familiar recorrente |
| pl | Dziedziczna neuropatia z nadwrażliwością na ucisk | Heterozygotyczna mikrodelecja 17p11.2p12 · HNPP |
| cs | Tomakulózní neuropatie | Aktuální neuropatie citlivá na tlak · HNPP · Heterozygotní mikrodelece 17p11.2p12 · Hereditární neuropatie s tendencí k tlakovým parézám |
| uk | Спадкова нейропатія зі схильністю до паралічу тиску | Сучасна нейропатія, чутлива до тиску · Гетерозиготна мікроделеція 17p11.2p12 · HNPP · Параліч чищення картоплі · Томакулярна нейропатія · Параліч копача цибулин тюльпанів |
| zh | 遗传性压力易感性周围神经病 | 17p11.2p12微缺失杂合子 |
| tr | Kalıtsal basınca duyarlı nöropati | HNPP · Patates-toplayan felci · Tomakülöz nöropati · Lale soğanı kazıcısı felci · Mevcut basınca-duyarlı nöropati · Heterozigot mikrodelesyon 17p11.2p12 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 162500 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.Y | NTBT | index | validated |
| MONDO | 0008087 | E | validated | |
| MeSH | C536965 | E | validated | |
| UMLS | C0393814 | E | validated | |
| GARD | 5221 | E | validated | |
| MedDRA | 10069382 | 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:140453Autosomal dominant hereditary demyelinating motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:261965Partial deletion of the short arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PMP22 | Disease-causing germline mutation(s) in | Assessed | HGNC:9118 | ENSG00000109099 | 601097 | 17p12 | peripheral myelin protein 22 | |
| PMP22 | Role in the phenotype of | Assessed | HGNC:9118 | ENSG00000109099 | 601097 | 17p12 | peripheral myelin protein 22 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.5 / 100 000 | Europe | Value and class | Validated | [EXPERT]_24646194[PMID] |
| Point prevalence | 1-5 / 10 000 | 16 / 100 000 | Finland | Value and class | Validated | 9447611[PMID] |
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
18 annotations · validated 2024-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003431 | Decreased motor nerve conduction velocity | |
| HP:0009830 | Peripheral neuropathy | |
| Frequent (79-30%) | ||
| HP:0200101 | Decreased/absent ankle reflexes | |
| HP:0001324 | Muscle weakness | |
| HP:0003401 | Paresthesia | |
| HP:0002650 | Scoliosis | |
| HP:0007141 | Sensorimotor neuropathy | |
| Occasional (29-5%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0003693 | Distal amyotrophy | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0001265 | Hyporeflexia | |
| HP:0003394 | Muscle spasm | |
| HP:0001761 | Pes cavus | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0003704 | Scapuloperoneal weakness | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001605 | Vocal cord paralysis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 38432886[PMID]_24646194[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/640
- This record as JSON: /data/d/640.json