ORPHA:1454
Joubert syndrome with hepatic defect
Synonyms: COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis · Gentile syndrome · JS-H · Joubert syndrome with congenital hepatic fibrosis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Joubert syndrome with hepatic defect | COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis · Gentile syndrome · JS-H · Joubert syndrome with congenital hepatic fibrosis |
| fr | Syndrome de Joubert avec atteinte hépatique | JS-H · Syndrome COACH · Syndrome d'hypoplasie du vermis cérébelleux-oligophrénie-ataxie congénitale-colobome-fibrose hépatique · Syndrome de Gentile |
| de | Joubert-Syndrom mit hepatischem Defekt | COACH-Syndrom · Gentile-Syndrom · Hypo/Aplasie des Kleinhirnwurms - Oligophrenie - kongenitale Ataxie - Kolobom - Leberfibrose · JS-H · Joubert-Syndrom mit kongenitaler hepatischer Fibrose |
| es | Síndrome de Joubert con defecto hepático | Hipoplasia del vermis cerebeloso-oligofrenia-ataxia congénita-coloboma-fibrosis hepática · JS-H · Síndrome COACH · Síndrome Gentile · Síndrome de Joubert con fibrosis hepática congénita |
| it | Sindrome di Joubert con difetto epatico | Ipoplasia del verme cerebellare - oligofrenia - atassia congenita - coloboma - fibrosi epatica · JS-H · Sindrome COACH · Sindrome di Gentile · Sindrome di Joubert con fibrosi epatica congenita |
| nl | Syndroom van Joubert met hepatisch defect | COACH-syndroom · Cerebellaire vermishypoplasie - oligofrenie - congenitale ataxie - coloboom - leverfibrose · JS-H · Syndroom van Gentile · Syndroom van Joubert met congenitale leverfibrose · Syndroom van Joubert met leverafwijking |
| pt | Síndrome Joubert com defeito hepático | Síndrome COACH |
| pl | Zespół Joubert z wadą wątroby | Hipoplazja robaka możdżku - oligofrenia - ataksja wrodzona - coloboma - zwłóknienie wątroby · JS-H · Zespół COACH · Zespół Gentile · Zespół Joubert z wrodzonym zwłóknieniem wątroby |
| cs | Joubertův syndrom s vrozenou jaterní fibrózou | COACH syndrom · Gentileho syndrom · JS-H · Hypoplázie mozečkové vermis, oligofrenie, vrozená ataxie, kolobom a jaterní fibróza · Joubertův syndrom s postižením jater |
| uk | Синдром Жубера з печінковою недостатністю | Гіпоплазія червяка мозочка-олігофренія-вроджена атаксія-колобома-фіброз печінки · Синдром COACH · Синдром Жентиля · Синдром Жубера з вродженим фіброзом печінки · JS-H |
| zh | Joubert综合征伴肝缺损 | 小脑蚓部发育不良-智力发育不全-先天性共济失调-眼部分缺损-肝纤维化 |
| tr | Karaciğer defektli Joubert sendromu | JS-H · COACH sendromu · Gentile sendromu · Doğumsal hepatik fibrozlu Joubert sendromu · Serebellar vermis hipoplazi-oligofreni-Doğumsal ataksi-kolobom-hepatik fibroz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 216360 | BTNT | validated | |
| OMIM | 619111 | BTNT | validated | |
| OMIM | 619113 | BTNT | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.0Y | NTBT | index | validated |
| MONDO | 0100349 | E | validated | |
| MeSH | C536430 | E | validated | |
| UMLS | C1857662 | E | validated | |
| GARD | 1410 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:156604Genetic parenchymatous liver disease
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:101939Rare parenchymal liver disease
rare hepatic diseases - ORPHA:156162Renal ciliopathy
rare genetic diseases - ORPHA:156165Retinal ciliopathy
rare genetic diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CC2D2A | Disease-causing germline mutation(s) in | Assessed | HGNC:29253 | ENSG00000048342 | 612013 | 4p15.32 | coiled-coil and C2 domain containing 2A | 19574260[PMID]_20301500[PMID] |
| INPP5E | Disease-causing germline mutation(s) in | Assessed | HGNC:21474 | ENSG00000148384 | 613037 | 9q34.3 | inositol polyphosphate-5-phosphatase E | 20301500[PMID]_19668216[PMID] |
| RPGRIP1L | Disease-causing germline mutation(s) in | Assessed | HGNC:29168 | ENSG00000103494 | 610937 | 16q12.2 | RPGRIP1 like | 19574260[PMID]_20301500[PMID] |
| TMEM67 | Disease-causing germline mutation(s) in | Assessed | HGNC:28396 | ENSG00000164953 | 609884 | 8q22.1 | transmembrane protein 67 | 19574260[PMID]_17160906[PMID]_20615230[PMID]_20301500[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 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.
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HPO phenotypes
48 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0002104 | Apnea | |
| HP:0001251 | Ataxia | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0002612 | Congenital hepatic fibrosis | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002240 | Hepatomegaly | |
| HP:0001252 | Hypotonia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0005248 | Intrahepatic biliary atresia | |
| HP:0000657 | Oculomotor apraxia | |
| Frequent (79-30%) | ||
| HP:0004422 | Biparietal narrowing | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0000612 | Iris coloboma | |
| HP:0000276 | Long face | |
| HP:0000112 | Nephropathy | |
| HP:0000639 | Nystagmus | |
| HP:0000588 | Optic disc coloboma | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
| HP:0000463 | Anteverted nares | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0100626 | Chronic hepatic failure | |
| HP:0001394 | Cirrhosis | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000238 | Hydrocephalus | |
| HP:0000023 | Inguinal hernia | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0002896 | Neoplasm of the liver | |
| HP:0002085 | Occipital encephalocele | |
| HP:0000202 | Orofacial cleft | |
| HP:0001409 | Portal hypertension | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000508 | Ptosis | |
| HP:0000083 | Renal insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0001744 | Splenomegaly | |
| HP:0000486 | Strabismus | |
| HP:0001337 | Tremor | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1454
- This record as JSON: /data/d/1454.json