Joubert syndrome 5

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS5
Number of Symptoms 35
OrphanetNr:
OMIM Id: 610188
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
17617513 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Joubert syndrome with oculorenal defect
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0001263) Global developmental delay 16682973 IBIS 853 / 7739
2
(HPO:0000657) Oculomotor apraxia 20690115; 16682973 IBIS 54 / 7739
3
(HPO:0000639) Nystagmus 16682973 IBIS 555 / 7739
4
(HPO:0011398) Central hypotonia 16682973 IBIS 12 / 7739
5
(HPO:0001251) Ataxia 17617513; 20690115; 16682973 IBIS 413 / 7739
6
(HPO:0006817) Aplasia/Hypoplasia of the cerebellar vermis 17617513; 16682973 IBIS 15 / 7739
7
(HPO:0000480) Retinal coloboma 17617513; 16682973 IBIS 16 / 7739
8
(HPO:0000546) Retinal degeneration 16682973 IBIS 61 / 7739
9
(HPO:0007875) Congenital blindness 16682973 IBIS 9 / 7739
10
(HPO:0000090) Nephronophthisis 17617513; 16682973 IBIS 42 / 7739
11
(HPO:0002790) Neonatal breathing dysregulation 20690115 IBIS 7 / 7739
12
(HPO:0002361) Psychomotor deterioration 20690115 IBIS 26 / 7739
13
(HPO:0001290) Generalized hypotonia 20690115 IBIS 51 / 7739
14
(HPO:0002335) Agenesis of cerebellar vermis 17617513 IBIS 25 / 7739
15
(HPO:0002876) Episodic tachypnea 17617513 IBIS 6 / 7739
16
(HPO:0002104) Apnea 17617513 IBIS 106 / 7739
17
(HPO:0001320) Cerebellar vermis hypoplasia 17617513 IBIS 57 / 7739
18
(HPO:0000547) Tapetoretinal degeneration 17617513 IBIS 11 / 7739
19
(HPO:0000588) Optic nerve coloboma 17617513 IBIS 27 / 7739
20
(HPO:0002419) Molar tooth sign on MRI 17617513; 20690115 IBIS 27 / 7739
21
(HPO:0012622) Chronic kidney disease 17617513 IBIS 32 / 7739
22
(HPO:0008897) Postnatal growth retardation 17617513 IBIS 113 / 7739
23
(HPO:0001903) Anemia 17617513 IBIS 289 / 7739
24
(HPO:0001959) Polydipsia 17617513 IBIS 43 / 7739
25
(HPO:0000103) Polyuria 17617513 IBIS 60 / 7739
26
(HPO:0004727) Impaired renal concentrating ability 6 / 7739
27
(HPO:0000803) Renal cortical cysts 3 / 7739
28
(HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
29
(HPO:0001249) Intellectual disability 1089 / 7739
30
(HPO:0002871) Central apnea 10 / 7739
31
(HPO:0010547) Muscle flaccidity 466 / 7739
32
(HPO:0001252) Muscular hypotonia 990 / 7739
33
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
34
(HPO:0001324) Muscle weakness 859 / 7739
35
(HPO:0002404) Thickened superior cerebellar peduncle 4 / 7739

Associated genes:

CEP290;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Joubert syndrome (JBTS) is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities (Valente et al., 2006). Neuroradiologically, Joubert syndrome is characterized by a peculiar malformation of the midbrain-hindbrain junction known ...
Molecular genetics OMIM Upon mutation analysis within the NPHP6 genetic interval, Sayer et al. (2006) identified an identical homozygous nonsense mutation, 5668G-T (G1890X), located in the CEP290 gene (610142.0001), which had been described as a component of the centrosomal proteome (Anderson ...