Primary ciliary dyskinesia-retinitis pigmentosa syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary ciliary dyskinesia-retinitis pigmentosa syndrome | |
| fr | Syndrome de dyskinésie ciliaire primitive-rétinite pigmentaire | |
| de | Primäre Ziliendyskinesie-Retinitis pigmentosa-Syndrom | |
| es | Síndrome de discinesia ciliar primaria-retinosis pigmentaria | |
| it | Discinesia ciliare primitiva - retinite pigmentosa | |
| nl | Primaire ciliaire dyskinesie - retinitis pigmentosa-syndroom | |
| pt | Síndrome de discinésia ciliar primária-retinite pigmentosa | |
| pl | Pierwotna dyskinezja rzęsek - zwyrodnienie barwnikowe siatkówki | |
| cs | Primární ciliární dyskineze asociovaná s retinitis pigmentoza | |
| uk | Синдром первинної циліарної дискінезії - пігментного ретиніту | |
| zh | 原发性纤毛运动障碍-色素视网膜炎综合征 | |
| tr | Primer siliyer diskinezi-retinitis pigmentosa sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300455 | E | validated | |
| ICD-10 | Q34.8 | NTBT | attributed | validated |
| ICD-11 | LA75.Y | NTBT | index | validated |
| MONDO | 0010330 | E | validated | |
| UMLS | C4304829 | 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 (3):
- ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:156610Rare genetic respiratory disease
rare genetic diseases - ORPHA:101944Rare pulmonary disease
rare respiratory diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RPGR | Disease-causing germline mutation(s) in | Assessed | HGNC:10295 | ENSG00000156313 | 312610 | Xp11.4 | retinitis pigmentosa GTPase regulator | 12920075[PMID]_16055928[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247522
- This record as JSON: /data/d/247522.json