Progressive retinal dystrophy due to retinol transport defect
Synonyms: Retinol dystrophy-iris coloboma-comedogenic acne syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive retinal dystrophy due to retinol transport defect | Retinol dystrophy-iris coloboma-comedogenic acne syndrome |
| fr | Dystrophie rétinienne progressive par déficit de transport du rétinol | Syndrome de dystrophie rétinienne-colobome de l'iris-acné comédogène |
| de | Progressive Retinadystrophie durch Retinol-Transportdefekt | Retinadystrophie-Iriskolobom-comedogene Akne-Syndrom |
| es | Distrofia retiniana progresiva por defectos del transporte de retinol | Distrofia retiniana-coloboma del iris-síndrome de acné comedogénico |
| it | Distrofia retinica progressiva da difetto del trasporto del retinolo | Sindrome distrofia retinica-coloboma dell'iride-acne comedogena |
| nl | Progressieve retinadystrofie door defect van retinoltransport | Retinadystrofie - iriscoloboom - comedogene acne-syndroom |
| pt | Distrofia retiniana progressiva por defeito no transporte de retinol | |
| pl | Postępująca dystrofia siatkówki spowodowana defektem transportu retinolu | Zespół dystrofia retinolowa-rozszczep tęczówki-trądzik komedogenny |
| cs | Progresivní dystrofie sítnice způsobená defektem transportu retinolu | Syndrom zahrnující retinolovou dystrofii, kolobom duhovky a komedonové akné |
| uk | Прогресуюча дистрофія сітківки, зумовлена дефектом транспорту ретинолу | Синдром ретинолової дистрофії - колобомирайдужки - комедогенного акне |
| zh | 视黄醇转运缺陷所致进行性视网膜营养不良 | 视黄醇营养不良虹膜疣粉刺综合征 |
| tr | Retinol taşıma defektine bağlı ilerleyici retina distrofisi | Retinol distrofi-iris kolobomu-komedojenik akne sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615147 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | attributed | validated |
| MONDO | 0014060 | E | validated | |
| UMLS | C4751000 | 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 (2):
- ORPHA:309833Disorder of other vitamins and cofactors metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:717324Rare genetic isolated progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RBP4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9922 | ENSG00000138207 | 180250 | 10q23.33 | retinol binding protein 4 | 23189188[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 9888420[PMID]_23189188[PMID]_27892788[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23189188[PMID]_27892788[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352718
- This record as JSON: /data/d/352718.json