Joubert Syndrome 36 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Tissues Publications Expand all tables

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Aliases & Classifications for Joubert Syndrome 36

MalaCards integrated aliases for Joubert Syndrome 36:

Name: Joubert Syndrome 36 ⁵⁶

Jbts36 ⁵⁶

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Respiratory diseases Liver diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618763

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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.

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Related Diseases for Joubert Syndrome 36

Diseases in the Joubert Syndrome 1 family:

Joubert Syndrome 10	Joubert Syndrome 2
Joubert Syndrome 3	Joubert Syndrome 4
Joubert Syndrome 5	Joubert Syndrome 6
Joubert Syndrome 7	Joubert Syndrome 9
Joubert Syndrome 8	Joubert Syndrome 13
Joubert Syndrome 14	Joubert Syndrome 15
Joubert Syndrome 16	Joubert Syndrome 17
Joubert Syndrome 18	Joubert Syndrome 20
Joubert Syndrome 21	Joubert Syndrome 22
Joubert Syndrome 23	Joubert Syndrome 24
Joubert Syndrome 25	Joubert Syndrome 26
Joubert Syndrome 27	Joubert Syndrome 28
Joubert Syndrome 30	Joubert Syndrome 32
Joubert Syndrome 31	Joubert Syndrome 33
Joubert Syndrome 35	Joubert Syndrome 36

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Symptoms & Phenotypes for Joubert Syndrome 36

Clinical features from OMIM:

618763

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Drugs & Therapeutics for Joubert Syndrome 36

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 36

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Genetic Tests for Joubert Syndrome 36

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Anatomical Context for Joubert Syndrome 36

MalaCards organs/tissues related to Joubert Syndrome 36:

⁴⁰

Brain, Eye, Liver

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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	Shaheen R...Alkuraya FS	30905400	2019

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Genes for Joubert Syndrome 36

Genes related to Joubert Syndrome 36 (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FAM149B1	Family With Sequence Similarity 149 Member B1	Protein Coding	7.71	GeneCards inferred via : Variants (show sections)

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Variations for Joubert Syndrome 36

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Expression for Joubert Syndrome 36

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

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Pathways for Joubert Syndrome 36

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GO Terms for Joubert Syndrome 36

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Sources for Joubert Syndrome 36

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⁷⁴ Wikipedia

Joubert Syndrome 36 (JBTS36)

Aliases & Classifications for Joubert Syndrome 36

MalaCards integrated aliases for Joubert Syndrome 36:

Classifications:

External Ids:

Summaries for Joubert Syndrome 36

Related Diseases for Joubert Syndrome 36

Diseases in the Joubert Syndrome 1 family:

Symptoms & Phenotypes for Joubert Syndrome 36

Clinical features from OMIM:

Drugs & Therapeutics for Joubert Syndrome 36

Genetic Tests for Joubert Syndrome 36

Anatomical Context for Joubert Syndrome 36

MalaCards organs/tissues related to Joubert Syndrome 36:

Publications for Joubert Syndrome 36

Articles related to Joubert Syndrome 36:

Genes for Joubert Syndrome 36

Genes related to Joubert Syndrome 36 (0 elite genes):

Variations for Joubert Syndrome 36

Expression for Joubert Syndrome 36

Pathways for Joubert Syndrome 36

GO Terms for Joubert Syndrome 36

Sources for Joubert Syndrome 36