JBTS36
MCID: JBR048
MIFTS: 19

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 57 73 6
Jbts36 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:



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). Related phenotypes are macrocephaly and intellectual disability

OMIM® : 57 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) (Updated 05-Mar-2021)

Symptoms & Phenotypes for Joubert Syndrome 36

Human phenotypes related to Joubert Syndrome 36:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 very rare (1%) HP:0000256
2 intellectual disability 31 very rare (1%) HP:0001249
3 ptosis 31 very rare (1%) HP:0000508
4 global developmental delay 31 very rare (1%) HP:0001263
5 pectus carinatum 31 very rare (1%) HP:0000768
6 sensorineural hearing impairment 31 very rare (1%) HP:0000407
7 anteverted nares 31 very rare (1%) HP:0000463
8 prominent forehead 31 very rare (1%) HP:0011220
9 strabismus 31 very rare (1%) HP:0000486
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®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
ptosis
strabismus
oculomotor apraxia
ocular movement abnormalities
high eyebrows

Head And Neck Nose:
anteverted nares
upturned nose

Skeletal Hands:
mesoaxial polydactyly
y-shaped metacarpal

Muscle Soft Tissue:
hypotonia

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

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

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

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 (Updated 05-Mar-2021)

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

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. 57 6
30905400 2019

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 rs1259897171 10:74953248-74953248 10:73193490-73193490
2 FAM149B1 NM_173348.2(FAM149B1):c.356_357del (p.Lys119fs) Deletion Pathogenic 810829 rs1589150410 10:74952387-74952388 10:73192629-73192630

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
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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