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

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Aliases & Classifications for Joubert Syndrome 36

MalaCards integrated aliases for Joubert Syndrome 36:

Name: Joubert Syndrome 36 ⁵⁶ ⁷³ ⁶

Jbts36 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
six patients from 4 unrelated consanguineous middle eastern families have been reported (last curated january, 2020)

HPO:

³¹

joubert syndrome 36:
Inheritance autosomal recessive inheritance

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

OMIM Phenotypic Series ⁵⁶ PS213300

MeSH ⁴³ D002526 D005124 D052177

MedGen ⁴¹ CN263245

SNOMED-CT via HPO ⁶⁸ 11934000 128602000 128613002 more

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Summaries for Joubert Syndrome 36

UniProtKB/Swiss-Prot : ⁷³ Joubert syndrome 36: A form of Joubert syndrome, a 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. JBTS36 inheritance is autosomal recessive.

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 and liver, and related phenotypes are intellectual disability and global developmental delay

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)

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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

Human phenotypes related to Joubert Syndrome 36:

³¹ (show all 14)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³¹	very rare (1%)	HP:0001249
2	global developmental delay ³¹	very rare (1%)	HP:0001263
3	macrocephaly ³¹	very rare (1%)	HP:0000256
4	pectus carinatum ³¹	very rare (1%)	HP:0000768
5	sensorineural hearing impairment ³¹	very rare (1%)	HP:0000407
6	anteverted nares ³¹	very rare (1%)	HP:0000463
7	prominent forehead ³¹	very rare (1%)	HP:0011220
8	strabismus ³¹	very rare (1%)	HP:0000486
9	ptosis ³¹	very rare (1%)	HP:0000508
10	open mouth ³¹	very rare (1%)	HP:0000194
11	highly arched eyebrow ³¹	very rare (1%)	HP:0002553
12	molar tooth sign on mri ³¹	very rare (1%)	HP:0002419
13	mesoaxial hand polydactyly ³¹	very rare (1%)	HP:0006159
14	seizure ³¹	very rare (1%)	HP:0001250

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
global developmental delay
molar tooth sign (in some patients)

Head And Neck Face:
prominent forehead
dysmorphic facies (in some patients)

Skeletal Hands:
mesoaxial polydactyly
y-shaped metacarpal

Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
sensorineural hearing impairment (1 patient)

Head And Neck Nose:
anteverted nares
upturned nose

Head And Neck Eyes:
strabismus
ptosis
oculomotor apraxia
ocular movement abnormalities
high eyebrows

Head And Neck Mouth:
cleft lip
high-arched palate

Head And Neck Head:
macrocephaly (in some patients)

Laboratory Abnormalities:
abnormal ciliary length

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, 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 ⁶	Shaheen R...Alkuraya FS	30905400	2019
2	Exome sequencing can improve diagnosis and alter patient management. ⁶	Dixon-Salazar TJ...Gleeson JG	22700954	2012
3	Clinical utility gene card for: Joubert syndrome. ⁶	Valente EM...Dallapiccola B	21448235	2011
4	Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. ⁶	Dafinger C...Bolz HJ	21633164	2011
5	Joubert Syndrome ⁶	Parisi M...Glass I	20301500	2003

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Genes for Joubert Syndrome 36

Genes related to Joubert Syndrome 36 (1 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	907.57	Molecular basis known ⁵⁶ Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	30905400

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Variations for Joubert Syndrome 36

ClinVar genetic disease variations for Joubert Syndrome 36:

⁶ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	FAM149B1	NM_173348.2(FAM149B1):c.439C>T (p.Gln147Ter)	SNV	Pathogenic	810830		10:74953248-74953248	10:73193490-73193490
2	FAM149B1	NM_173348.2(FAM149B1):c.356_357del (p.Lys119fs)	deletion	Pathogenic	810829		10:74952387-74952388	10:73192629-73192630

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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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Joubert Syndrome 36 (JBTS36)

Aliases & Classifications for Joubert Syndrome 36

MalaCards integrated aliases for Joubert Syndrome 36:

Characteristics:

OMIM:

HPO:

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

Human phenotypes related to Joubert Syndrome 36:

Symptoms via clinical synopsis from OMIM:

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 (1 elite genes):

Variations for Joubert Syndrome 36

ClinVar genetic disease 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