Joubert Syndrome 37 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Joubert Syndrome 37

MalaCards integrated aliases for Joubert Syndrome 37:

Name: Joubert Syndrome 37 ⁵⁷

Jbts37 ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in utero
variable features
death in utero (in some patients)

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® ⁵⁷ 619185

OMIM Phenotypic Series ⁵⁷ PS213300

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Summaries for Joubert Syndrome 37

OMIM® : ⁵⁷ Joubert syndrome-37 (JBTS37) is an autosomal recessive neurodevelopmental ciliopathy characterized classically by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging. Affected individuals have hypotonia, ataxia, and variably impaired intellectual development. Additional variable features, such as postaxial polydactyly, liver or kidney anomalies, retinal dystrophy, and coloboma, may also occur. In severe cases, affected fetuses with these malformations may be terminated (summary by Latour et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). (619185) (Updated 05-Mar-2021)

MalaCards based summary : Joubert Syndrome 37, is also known as jbts37. An important gene associated with Joubert Syndrome 37 is TOGARAM1 (TOG Array Regulator Of Axonemal Microtubules 1). Affiliated tissues include cerebellum, eye and brain.

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Related Diseases for Joubert Syndrome 37

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
Joubert Syndrome 37

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Symptoms & Phenotypes for Joubert Syndrome 37

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Head And Neck Face:
frontal bossing
metopic ridge
microcephaly (in some patients)
dysmorphic facial features

Neurologic Central Nervous System:
ataxia
hydrocephalus
global developmental delay
cerebellar vermis hypoplasia
hypotonia
more

Abdomen Liver:
hepatomegaly
cholestasis

Head And Neck Mouth:
cleft palate
cleft lip
high-arched palate

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Hands:
postaxial polydactyly

Head And Neck Nose:
broad nasal bridge
broad nose
anteverted alae

Neurologic Behavioral Psychiatric Manifestations:
behavioral problems

Respiratory:
apnea (in some patients)

Head And Neck Eyes:
ptosis
hypertelorism
strabismus
microphthalmia
oculomotor apraxia
more

Skeletal Spine:
hyperlordosis

Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism
micropenis
small scrotum

Skeletal Limbs:
joint hypermobility

Skeletal Feet:
postaxial polydactyly

Chest Breasts:
widely spaced nipples

Genitourinary Kidneys:
hydronephrosis (in some patients)
small kidney (in some patients)

Clinical features from OMIM®:

619185 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Joubert Syndrome 37

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 37

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Genetic Tests for Joubert Syndrome 37

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Anatomical Context for Joubert Syndrome 37

MalaCards organs/tissues related to Joubert Syndrome 37:

⁴⁰

Cerebellum, Eye, Brain, Kidney

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Publications for Joubert Syndrome 37

Articles related to Joubert Syndrome 37:

#	Title	Authors	PMID	Year
1	Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. ⁵⁷	Latour BL...Doherty D	32453716	2020
2	Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy. ⁵⁷	Morbidoni V...Trevisson E	32747439	2020
3	Crescerin uses a TOG domain array to regulate microtubules in the primary cilium. ⁵⁷	Das A...Slep KC	26378256	2015

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Genes for Joubert Syndrome 37

Genes related to Joubert Syndrome 37 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TOGARAM1	TOG Array Regulator Of Axonemal Microtubules 1	Protein Coding	500	Molecular basis known ⁵⁷

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Variations for Joubert Syndrome 37

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Expression for Joubert Syndrome 37

Search GEO for disease gene expression data for Joubert Syndrome 37.

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Pathways for Joubert Syndrome 37

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GO Terms for Joubert Syndrome 37

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Sources for Joubert Syndrome 37

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⁵⁷ OMIM® (Updated 05-Mar-2021)

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⁷⁴ Wikipedia

Joubert Syndrome 37 (JBTS37)

Aliases & Classifications for Joubert Syndrome 37

MalaCards integrated aliases for Joubert Syndrome 37:

Characteristics:

OMIM®:

Classifications:

External Ids:

Summaries for Joubert Syndrome 37

Related Diseases for Joubert Syndrome 37

Diseases in the Joubert Syndrome 1 family:

Symptoms & Phenotypes for Joubert Syndrome 37

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Joubert Syndrome 37

Genetic Tests for Joubert Syndrome 37

Anatomical Context for Joubert Syndrome 37

MalaCards organs/tissues related to Joubert Syndrome 37:

Publications for Joubert Syndrome 37

Articles related to Joubert Syndrome 37:

Genes for Joubert Syndrome 37

Genes related to Joubert Syndrome 37 (1 elite genes):

Variations for Joubert Syndrome 37

Expression for Joubert Syndrome 37

Pathways for Joubert Syndrome 37

GO Terms for Joubert Syndrome 37

Sources for Joubert Syndrome 37