JBTS36
MCID: JBR048
MIFTS: 11

Joubert Syndrome 36 (JBTS36)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Joubert Syndrome 36

MalaCards integrated aliases for Joubert Syndrome 36:

Name: Joubert Syndrome 36 56
Jbts36 56

Classifications:



External Ids:

OMIM 56 618763

Summaries for Joubert Syndrome 36

OMIM : 56 Joubert syndrome-36 (JBTS36) is an autosomal recessive ciliopathy characterized by global developmental delay, ocular movement abnormalities, and mesoaxial polydactyly. Brain imaging may be normal or show the classic 'molar tooth sign.' There is some phenotypic similarity to and overlap with orofaciodigital syndrome VI (OFD6; 277170) (summary by Shaheen et al., 2019). For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). (618763)

MalaCards based summary : Joubert Syndrome 36, is also known as jbts36. An important gene associated with Joubert Syndrome 36 is FAM149B1 (Family With Sequence Similarity 149 Member B1). Affiliated tissues include brain, eye and liver.

Symptoms & Phenotypes for Joubert Syndrome 36

Clinical features from OMIM:

618763

Drugs & Therapeutics for Joubert Syndrome 36

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 36

Genetic Tests for Joubert Syndrome 36

Anatomical Context for Joubert Syndrome 36

MalaCards organs/tissues related to Joubert Syndrome 36:

40
Brain, Eye, Liver

Publications for Joubert Syndrome 36

Articles related to Joubert Syndrome 36:

# Title Authors PMID Year
1
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. 56
30905400 2019

Variations for Joubert Syndrome 36

Expression for Joubert Syndrome 36

Search GEO for disease gene expression data for Joubert Syndrome 36.

Pathways for Joubert Syndrome 36

GO Terms for Joubert Syndrome 36

Sources for Joubert Syndrome 36

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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