ORPHA:88628
Posterior column ataxia-retinitis pigmentosa syndrome
Synonyms: Autosomal recessive posterior column ataxia and retinitis pigmentosa · PCARP
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Posterior column ataxia-retinitis pigmentosa syndrome | Autosomal recessive posterior column ataxia and retinitis pigmentosa · PCARP |
| fr | Syndrome d'ataxie du cordon postérieur-rétinite pigmentaire | PCARP · Syndrome d'ataxie du cordon postérieur-rétinite pigmentaire autosomique récessive |
| de | Hinterstrangataxie - Retinitis pigmentosa | Hinterstrangataxie und Retinitis pigmentosa, autosomal-rezessive Form · PCARP |
| es | Síndrome de ataxia de columna posterior-retinosis pigmentaria | Enfermedad de astas posteriores, ataxia y retinosis pigmentaria, autosómica recesiva |
| it | Atassia del cordone posteriore - retinite pigmentosa | Atassia del cordone posteriore - retinite pigmentosa, autosomica recessiva · PCARP |
| nl | Achterstrengataxie - retinitis pigmentosa-syndroom | Autosomaal recessieve achterstrengataxie en retinitis pigmentosa · PCARP |
| pt | Síndrome de ataxia cordonal posterior-retinite pigmentosa | |
| pl | Ataksja słupa tylnego - zwyrodnienie barwnikowe siatkówki | Autosomalna recesywna ataksja słupa tylnego i zwyrodnienie barwnikowe siatkówki · PCARP |
| cs | Syndrom zahrnující ataxii zadních provazců a retinitis pigmentosa | PCARP · Autozomálně recesivní ataxie zadních provazců a retinitis pigmentosa |
| uk | Синдром атаксії заднього стовпа-пігментного ретініту | Аутосомно-рецесивна атаксія заднього стовпчика та пігментний ретиніт · PCARP |
| zh | 后柱性共济失调-视网膜色素变性综合征 | 常染色体隐性遗传性后柱性共济失调-色素性视网膜炎 |
| tr | Arka kolon ataksi-retinitis pigmentosa sendromu | PCARP · Otozomal çekinik posterior kolon ataksisi ve retinitis pigmentosa |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609033 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0012177 | E | validated | |
| MeSH | C536343 | E | validated | |
| UMLS | C1836916 | E | validated | |
| GARD | 9898 | 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:98098Autosomal recessive degenerative and progressive cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
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 |
|---|---|---|---|---|---|---|---|---|
| FLVCR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:24682 | ENSG00000162769 | 609144 | 1q32.3 | FLVCR choline and heme transporter 1 | 21267618[PMID]_20301317[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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
31 annotations · validated 2018-05-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0010831 | Impaired proprioception | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| Frequent (79-30%) | ||
| HP:0045010 | Abnormality of peripheral nerves | |
| HP:0040078 | Axonal degeneration | |
| HP:0007737 | Bone spicule pigmentation of the retina | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000662 | Nyctalopia | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0040132 | Abnormal sensory nerve conduction velocity | |
| HP:0002143 | Abnormality of the spinal cord | |
| HP:0001284 | Areflexia | |
| HP:0012385 | Camptodactyly | |
| HP:0000518 | Cataract | |
| HP:0012532 | Chronic pain | |
| HP:0002194 | Delayed gross motor development | |
| HP:0012785 | Flexion contracture of finger | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0002808 | Kyphosis | |
| HP:0003394 | Muscle spasm | |
| HP:0002754 | Osteomyelitis | |
| HP:0002403 | Positive Romberg sign | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0030147 | Truncal titubation | |
| Very rare (<4-1%) | ||
| HP:0002607 | Bowel incontinence | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 21070897[PMID]_21267618[PMID]_24628582[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/88628
- This record as JSON: /data/d/88628.json