Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Synonyms: PHARC syndrome · Peripheral neuropathy, Fiskerstrand type · Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare neurologic syndrome with peripheral neuropathy characterized by polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts. Polyneuropathy presents with slowly progressive and often demyelinating sensorimotor neuropathy where pes cavus, decreased sensation and hyporeflexia may appear as early signs. Hearing loss is progressive, usually bilateral and presents with childhood/early adolescent-onset whereas patients develop retinis pigmentosa and cataracts (typically posterior subcapsular) often in early to mid-adulthood. Ataxia may manifest with gait instability/spasticity, dysarthria, intention tremor and dysmetria of the limbs. Additional clinical features may include tendon abnormalities, hyperreflexia, extensor plantar responses. Seizures and mild intellectual disability is reported in few patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome | PHARC syndrome · Peripheral neuropathy, Fiskerstrand type · Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome |
| fr | Syndrome de polyneuropathie-surdité-ataxie-rétinite pigmentaire-cataracte | Syndrome PHARC |
| de | Polyneuropathie-Hörverlust-Ataxie-Retinitis pigmentosa-Katarakt-Syndrom | Neuropathie, periphere, Typ Fiskerstrand · PHARC-Syndrom |
| es | Síndrome de polineuropatía-hipoacusia-ataxia-retinosis pigmentaria-cataratas | Neuropatía periférica tipo Fiskerstrand · Síndrome PHARC · Síndrome de polineuropatía-sordera-ataxia-retinosis pigmentaria-cataratas |
| it | Polineuropatia - perdita dell'udito - atassia - retinite pigmentosa - cataratta | Neuropatia periferica, tipo Fiskerstrand · Sindrome PHARC |
| nl | Polyneuropathie - gehoorverlies - ataxie - retinitis pigmentosa - cataract-syndroom | PHARC-syndroom · Perifere neuropathie, Fiskerstrand-type · Polyneuropathie - doofheid - ataxie - retinitis pigmentosa - cataract-syndroom |
| pt | Sindrome de polineuropatia-perda auditiva-ataxia-retinite pigmentosa-catarata | Neuropatia periférica, tipo Fiskerstrand |
| pl | Polineuropatia - utrata słuchu - ataksja - zwyrodnienie barwnikowe siatkówki - zaćma | Neuropatia obwodowa, typ Fiskerstranda · Zespół PHARC |
| cs | Syndrom zahrnující polyneuropatii, ztrátu sluchu, ataxii, retinitis pigmentosa a kataraktu | PHARC syndrom · Periferní neuropatie, Fiskerstrandův typ |
| uk | Синдром полінейропатії-втрати слуху-атаксії-пігментного ретиніту-катаракти | Периферична нейропатія, тип Фіскерстранда · Синдром PHARC · Полінейропатія-глухота-атаксія-пігментний ретиніт-катарактальний синдром |
| zh | 多发性神经病-听觉损失-共济失调-视网膜色素变性-白内障综合征 | 多发性神经病-耳聋-共济失调-视网膜色素变性-白内障综合征 |
| tr | Polinöropati-işitme kaybı-ataksi-retinitis pigmentosa-katarakt sendromu | PHARC sendromu · Periferik nöropati, Fiskerstrand tipi · Polinöropati-sağırlık-ataksi-retinitis pigmentosa-katarakt sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612674 | E | validated | |
| ICD-10 | G60.1 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0012984 | E | validated | |
| UMLS | C4509920 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:352309Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:207015Rare hereditary disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABHD12 | Disease-causing germline mutation(s) in | Assessed | HGNC:15868 | ENSG00000100997 | 613599 | 20p11.21 | abhydrolase domain containing 12, lysophospholipase | 20797687[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 23490117[PMID] | |
| 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171848
- This record as JSON: /data/d/171848.json