ORPHA:220493
Joubert syndrome with ocular anomaly
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Joubert syndrome with ocular anomaly | |
| fr | Syndrome de Joubert avec anomalie oculaire | |
| de | Joubert-Syndrom mit Augenanomalie | |
| es | Síndrome de Joubert con anomalía ocular | |
| it | Sindrome di Joubert associata a difetto oculare | |
| nl | Syndroom van Joubert met oculaire anomalie | |
| pt | Síndrome de Joubert com retinopatia | |
| pl | Zespół Joubert z wadą narządu wzroku | JS-O · Zespół Joubert z retinopatią |
| cs | Joubertův syndrom s poruchami vývoje očí | JS-O · Joubertův syndrom s retinopatií |
| uk | Синдром Жубера з ураженням ока | Синдром Жубера з ретинопатією · JS-O |
| zh | Joubert综合征伴眼缺陷 | Joubert综合征伴视网膜病 |
| tr | Oküler defekt ile seyreden Joubert sendromu | JS-O · Retinopatili Joubert sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608629 | BTNT | validated | |
| OMIM | 614424 | BTNT | validated | |
| OMIM | 614464 | BTNT | validated | |
| OMIM | 614970 | BTNT | validated | |
| OMIM | 617121 | BTNT | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.0Y | NTBT | index | validated |
| MONDO | 0016364 | E | validated | |
| UMLS | C4274118 | E | validated | |
| GARD | 10168 | 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 (5):
- 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:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:156165Retinal ciliopathy
rare genetic diseases
No children.
4
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CEP41 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12370 | ENSG00000106477 | 610523 | 7q32.2 | centrosomal protein 41 | 20301500[PMID]_22246503[PMID] |
| AHI1 | Disease-causing germline mutation(s) in | Assessed | HGNC:21575 | ENSG00000135541 | 608894 | 6q23.3 | Abelson helper integration site 1 | 20615230[PMID]_20301500[PMID] |
| CEP120 | Disease-causing germline mutation(s) in | Assessed | HGNC:26690 | ENSG00000168944 | 613446 | 5q23.2 | centrosomal protein 120 | 27208211[PMID] |
| INPP5E | Disease-causing germline mutation(s) in | Assessed | HGNC:21474 | ENSG00000148384 | 613037 | 9q34.3 | inositol polyphosphate-5-phosphatase E | 23386033[PMID]_19668216[PMID]_20301500[PMID] |
| MKS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7121 | ENSG00000011143 | 609883 | 17q22 | MKS transition zone complex subunit 1 | 24886560[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
40 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002793 | Abnormal pattern of respiration | |
| 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:0000657 | Oculomotor apraxia | |
| HP:0000556 | Retinal dystrophy | |
| Frequent (79-30%) | ||
| HP:0004422 | Biparietal narrowing | |
| HP:0011968 | Feeding difficulties | |
| HP:0001288 | Gait disturbance | |
| HP:0000276 | Long face | |
| HP:0000639 | Nystagmus | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000463 | Anteverted nares | |
| HP:0000175 | Cleft palate | |
| HP:0001651 | Dextrocardia | |
| HP:0002084 | Encephalocele | |
| HP:0001829 | Foot polydactyly | |
| HP:0001161 | Hand polydactyly | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000238 | Hydrocephalus | |
| HP:0000612 | Iris coloboma | |
| HP:0000202 | Orofacial cleft | |
| HP:0002126 | Polymicrogyria | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000508 | Ptosis | |
| HP:0000480 | Retinal coloboma | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| HP:0001337 | Tremor | |
| HP:0000572 | Visual loss | |
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/220493
- This record as JSON: /data/d/220493.json