ORPHA:2318
Joubert syndrome with oculorenal defect
Synonyms: Arima syndrome · CORS · Cerebellooculorenal syndrome · Dekaban-Arima syndrome · JS type B · JS-OR · Joubert syndrome with Senior-Loken syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Joubert syndrome with oculorenal defect | Arima syndrome · CORS · Cerebellooculorenal syndrome · Dekaban-Arima syndrome · JS type B · JS-OR · Joubert syndrome with Senior-Loken syndrome |
| fr | Syndrome de Joubert avec atteinte oculo-rénale | CORS · JS type B · JS-OR · Syndrome cérébellooculorénal · Syndrome d'Arima · Syndrome de Dekaban-Arima · Syndrome de Joubert avec syndrome de Senior-Loken |
| de | Joubert-Syndrom mit okulo-renalem Defekt | Arima-Syndrom · CORS · Dekaban-Arima-Syndrom · JS Typ B · JS-OR · Joubert-Syndrom mit Senior-Loken-Syndrom · Zerebello-okulo-renales Syndrom |
| es | Síndrome de Joubert con defecto óculo-renal | CORS · JS tipo B · JS-OR · Síndrome cerebelo-óculo-renal · Síndrome de Arima · Síndrome de Dekaban-Arima · Síndrome de Joubert con síndrome de Senior-Loken |
| it | Sindrome di Joubert associata a difetto oculorenale | CORS · JS, tipo B · JS-OR · Sindrome cerebello-oculo-renale · Sindrome di Arima · Sindrome di Dekaban-Arima · Sindrome di Joubert associata a sindrome di Senior-Loken |
| nl | Syndroom van Joubert met oculorenaal defect | CORS · Cerebello-oculo-renaal syndroom · JS type B · JS-OR · Syndroom van Arima · Syndroom van Dekaban-Arima · Syndroom van Joubert met syndroom van Senior-Loken |
| pt | Síndrome Joubert com defeito oculorenal | Coloboma corio-retiniano-aplasia do vermis do cerebelo · Síndrome Dekaban-Arima · Síndrome Joubert-coloboma corio-retiniano bilateral |
| pl | Zespół Joubert z wadą narządu wzroku i nerek | CORS · JS-OR · JS typu B · Zespół Arima · Zespół Dekabana i Arima · Zespół móżdzkowo-oczno-nerkowy · Zespół Joubert z zespołem Seniora i Lokena |
| cs | Joubertův syndrom s okulorenálním defektem | CORS · Cerebelookulorenální syndrom · JS typ B · JS-OR · Arimův syndrom · Dekabanův-Arimův syndrom · Joubertův a Seniorův-Lokenův syndrom · Dekaban-Arimův syndrom · Joubertův a Senior-Lokenův syndrom |
| uk | Синдром Жубера з окулоренальним дефектом | Синдром Аріми · Церебелоокулоренальний синдром · CORS · Синдром Декабана-Аріми · Синдром Жубера з синдромом Сеньора-Локена · JS тип B · JS-OR |
| zh | Joubert综合征伴肾眼缺损 | Joubert综合征伴Senior-Loken综合征 |
| tr | Okülorenal defektli Joubert sendromu | CORS · JS-OR · JS tip B · Arima sendromu · Dekaban-Arima sendromu · Serebellookülorenal sendrom · Senior-Loken sendrom ile seyreden Joubert sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243910 | E | validated | |
| OMIM | 608091 | BTNT | validated | |
| OMIM | 610188 | BTNT | validated | |
| OMIM | 612285 | BTNT | validated | |
| OMIM | 614424 | BTNT | validated | |
| OMIM | 614465 | BTNT | validated | |
| OMIM | 614844 | NTBT | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.0Y | NTBT | index | validated |
| MONDO | 0009480 | E | validated | |
| MeSH | C537430 | E | validated | |
| UMLS | C1855675 | E | validated | |
| GARD | 9455 | 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 (7):
- ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:140874Joubert syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:156162Renal ciliopathy
rare genetic diseases
No children.
4
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TMEM138 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26944 | ENSG00000149483 | 614459 | 11q12.2 | transmembrane protein 138 | 22282472[PMID] |
| CC2D2A | Disease-causing germline mutation(s) in | Assessed | HGNC:29253 | ENSG00000048342 | 612013 | 4p15.32 | coiled-coil and C2 domain containing 2A | 20301500[PMID] |
| CEP290 | Disease-causing germline mutation(s) in | Assessed | HGNC:29021 | ENSG00000198707 | 610142 | 12q21.32 | centrosomal protein 290 | 20615230[PMID]_20301500[PMID] |
| TMEM216 | Disease-causing germline mutation(s) in | Assessed | HGNC:25018 | ENSG00000187049 | 613277 | 11q13.1 | transmembrane protein 216 | 20301500[PMID] |
| TMEM231 | Disease-causing germline mutation(s) in | Assessed | HGNC:37234 | ENSG00000205084 | 614949 | 16q23.1 | transmembrane protein 231 | 20301500[PMID]_23012439[PMID] |
| TMEM237 | Disease-causing germline mutation(s) in | Assessed | HGNC:14432 | ENSG00000155755 | 614423 | 2q33.1 | transmembrane protein 237 | 20301500[PMID]_22152675[PMID] |
| ZNF423 | Disease-causing germline mutation(s) in | Assessed | HGNC:16762 | ENSG00000102935 | 604557 | 16q12.1 | zinc finger protein 423 | 22863007[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 23845172[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
37 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002104 | Apnea | |
| HP:0001251 | Ataxia | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0002419 | Molar tooth sign on MRI | |
| HP:0000112 | Nephropathy | |
| HP:0000556 | Retinal dystrophy | |
| HP:0002789 | Tachypnea | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0004422 | Biparietal narrowing | |
| HP:0000618 | Blindness | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0000612 | Iris coloboma | |
| HP:0000276 | Long face | |
| HP:0000639 | Nystagmus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000508 | Ptosis | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0000463 | Anteverted nares | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0002084 | Encephalocele | |
| HP:0001829 | Foot polydactyly | |
| HP:0001161 | Hand polydactyly | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000238 | Hydrocephalus | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000083 | Renal insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2318
- This record as JSON: /data/d/2318.json