MCID: JBR026
MIFTS: 21

Joubert Syndrome 15

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Nephrological diseases

Aliases & Classifications for Joubert Syndrome 15

MalaCards integrated aliases for Joubert Syndrome 15:

Name: Joubert Syndrome 15 57 12 75 29 13 6 73
Jbts15 57 12 75
Joubert Syndrome, Type 15 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
joubert syndrome 15:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 15

UniProtKB/Swiss-Prot : 75 Joubert syndrome 15: An autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis and polydactyly.

MalaCards based summary : Joubert Syndrome 15, is also known as jbts15, and has symptoms including ataxia An important gene associated with Joubert Syndrome 15 is CEP41 (Centrosomal Protein 41). Affiliated tissues include liver, and related phenotypes are micropenis and ambiguous genitalia

Disease Ontology : 12 A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has material basis in homozygous mutation in the CEP41 gene on chromosome 7q32.

OMIM : 57 Joubert syndrome-15 is an autosomal recessive developmental disorder characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation. Other features, such as polydactyly, breathing abnormalities, and oculomotor apraxia, are variable (summary by Lee et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (614464)

Symptoms & Phenotypes for Joubert Syndrome 15

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
hypotonia
mental retardation
delayed psychomotor development
molar tooth sign

Muscle Soft Tissue:
hypotonia

Respiratory:
breathing abnormalities (variable)

Genitourinary Kidneys:
nephronophthisis (1 patient)

Genitourinary External Genitalia Male:
micropenis
ambiguous genitalia (1 patient)

Head And Neck Eyes:
oculomotor apraxia (variable)
retinopathy (rare)

Abdomen Liver:
liver abnormalities, mild (1 patient)

Skeletal Hands:
polydactyly (variable)


Clinical features from OMIM:

614464

Human phenotypes related to Joubert Syndrome 15:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 micropenis 32 HP:0000054
2 ambiguous genitalia 32 occasional (7.5%) HP:0000062
3 nephronophthisis 32 occasional (7.5%) HP:0000090
4 retinopathy 32 occasional (7.5%) HP:0000488
5 retinal dystrophy 32 occasional (7.5%) HP:0000556
6 oculomotor apraxia 32 frequent (33%) HP:0000657
7 intellectual disability 32 HP:0001249
8 ataxia 32 HP:0001251
9 global developmental delay 32 HP:0001263
10 generalized hypotonia 32 HP:0001290
11 molar tooth sign on mri 32 HP:0002419
12 polydactyly 32 frequent (33%) HP:0010442

UMLS symptoms related to Joubert Syndrome 15:


ataxia

Drugs & Therapeutics for Joubert Syndrome 15

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 15

Genetic Tests for Joubert Syndrome 15

Genetic tests related to Joubert Syndrome 15:

# Genetic test Affiliating Genes
1 Joubert Syndrome 15 29 CEP41

Anatomical Context for Joubert Syndrome 15

MalaCards organs/tissues related to Joubert Syndrome 15:

41
Liver

Publications for Joubert Syndrome 15

Variations for Joubert Syndrome 15

ClinVar genetic disease variations for Joubert Syndrome 15:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP41 CEP41, IVS1DS, T-G, +2 single nucleotide variant Pathogenic
2 CEP41 CEP41, 3-BP DEL, IVS1DS, 97GAG deletion Pathogenic
3 CEP41 CEP41, IVS6AS, A-C, -2 single nucleotide variant Pathogenic
4 CEP41 CEP41, SER28TER single nucleotide variant Pathogenic
5 CEP41 NM_018718.2(CEP41): c.208-5A> G single nucleotide variant Conflicting interpretations of pathogenicity rs11765434 GRCh37 Chromosome 7, 130051037: 130051037
6 CEP41 NM_018718.2(CEP41): c.208-5A> G single nucleotide variant Conflicting interpretations of pathogenicity rs11765434 GRCh38 Chromosome 7, 130411196: 130411196
7 CEP41 NM_018718.2(CEP41): c.1009T> C (p.Ser337Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs147444165 GRCh37 Chromosome 7, 130038845: 130038845
8 CEP41 NM_018718.2(CEP41): c.1009T> C (p.Ser337Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs147444165 GRCh38 Chromosome 7, 130399004: 130399004
9 CEP41 NM_018718.2(CEP41): c.1065C> G (p.Ser355Arg) single nucleotide variant Likely benign rs116313397 GRCh37 Chromosome 7, 130038789: 130038789
10 CEP41 NM_018718.2(CEP41): c.1065C> G (p.Ser355Arg) single nucleotide variant Likely benign rs116313397 GRCh38 Chromosome 7, 130398948: 130398948
11 CEP41 NM_018718.2(CEP41): c.114A> G (p.Lys38=) single nucleotide variant Likely benign GRCh38 Chromosome 7, 130416950: 130416950
12 CEP41 NM_018718.2(CEP41): c.114A> G (p.Lys38=) single nucleotide variant Likely benign GRCh37 Chromosome 7, 130056791: 130056791

Expression for Joubert Syndrome 15

Search GEO for disease gene expression data for Joubert Syndrome 15.

Pathways for Joubert Syndrome 15

GO Terms for Joubert Syndrome 15

Sources for Joubert Syndrome 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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