JBTS37
MCID: JBR049
MIFTS: 17

Joubert Syndrome 37 (JBTS37)

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

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:



External Ids:

OMIM® 57 619185
OMIM Phenotypic Series 57 PS213300

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.

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)

Drugs & Therapeutics for Joubert Syndrome 37

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 37

Genetic Tests for Joubert Syndrome 37

Anatomical Context for Joubert Syndrome 37

MalaCards organs/tissues related to Joubert Syndrome 37:

40
Cerebellum, Eye, Brain, Kidney

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
32453716 2020
2
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy. 57
32747439 2020
3
Crescerin uses a TOG domain array to regulate microtubules in the primary cilium. 57
26378256 2015

Variations for Joubert Syndrome 37

Expression for Joubert Syndrome 37

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

Pathways for Joubert Syndrome 37

GO Terms for Joubert Syndrome 37

Sources for Joubert Syndrome 37

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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