ORPHA:220497
Joubert syndrome with renal defect
Synonyms: JS-R
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Joubert syndrome with renal defect | JS-R |
| fr | Syndrome de Joubert avec atteinte rénale | = en |
| de | Joubert-Syndrom mit Nierenstörung | JS-R · Joubert-Syndrom Typ 4 · Joubert-syndrom Typ 7 |
| es | Síndrome de Joubert con enfermedad renal | = en |
| it | Sindrome di Joubert associata a difetto renale | = en |
| nl | Syndroom van Joubert met renaal defect | = en |
| pt | Síndrome de Joubert com doença renal | |
| pl | Zespół Joubert z wadą nerek | = en |
| cs | Joubertův syndrom s poruchou ledvin | = en |
| uk | Синдром Жубера з нирковим дефектом | = en |
| zh | Joubert综合征伴肾缺陷 | = en |
| tr | Böbrek defekti ile seyreden Joubert sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609583 | E | validated | |
| OMIM | 611560 | BTNT | validated | |
| OMIM | 614424 | BTNT | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-10 | Q61.5 | NTBT | attributed | validated |
| ICD-11 | LD20.0Y | NTBT | index | validated |
| MONDO | 0012308 | E | validated | |
| UMLS | C4274117 | E | validated | |
| GARD | 10169 | 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:156162Renal ciliopathy
rare genetic diseases - ORPHA:156180Retinal ciliopathy due to mutation in nephronophthisis gene
rare genetic diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NPHP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7905 | ENSG00000144061 | 607100 | 2q13 | nephrocystin 1 | 20615230[PMID]_20301500[PMID] |
| RPGRIP1L | Disease-causing germline mutation(s) in | Assessed | HGNC:29168 | ENSG00000103494 | 610937 | 16q12.2 | RPGRIP1 like | 20615230[PMID]_20301500[PMID] |
| TMEM237 | Disease-causing germline mutation(s) in | Assessed | HGNC:14432 | ENSG00000155755 | 614423 | 2q33.1 | transmembrane protein 237 | 20301500[PMID]_22152675[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
36 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:0000112 | Nephropathy | |
| HP:0000657 | Oculomotor apraxia | |
| Frequent (79-30%) | ||
| HP:0004422 | Biparietal narrowing | |
| HP:0011968 | Feeding difficulties | |
| HP:0001288 | Gait disturbance | |
| HP:0000276 | Long face | |
| HP:0000639 | Nystagmus | |
| HP:0000358 | Posteriorly rotated ears | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system 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:0002084 | Encephalocele | |
| HP:0001161 | Hand polydactyly | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000238 | Hydrocephalus | |
| HP:0000612 | Iris coloboma | |
| HP:0000202 | Orofacial cleft | |
| HP:0002126 | Polymicrogyria | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000508 | Ptosis | |
| HP:0000083 | Renal insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| HP:0001337 | Tremor | |
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/220497
- This record as JSON: /data/d/220497.json