JBTS22
MCID: JBR030
MIFTS: 33

Joubert Syndrome 22 (JBTS22)

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

Aliases & Classifications for Joubert Syndrome 22

MalaCards integrated aliases for Joubert Syndrome 22:

Name: Joubert Syndrome 22 57 12 72 29 6 15 70
Jbts22 57 12 72
Joubert Syndrome, Type 22 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one family has been reported (last curated february 2014)


HPO:

31
joubert syndrome 22:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Joubert Syndrome 22

UniProtKB/Swiss-Prot : 72 Joubert syndrome 22: 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.

MalaCards based summary : Joubert Syndrome 22, also known as jbts22, is related to joubert syndrome 1 and orofaciodigital syndrome vi. An important gene associated with Joubert Syndrome 22 is PDE6D (Phosphodiesterase 6D), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include brain, and related phenotypes are microphthalmia and renal hypoplasia

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous mutation in the PDE6D gene on chromosome 2q37.

More information from OMIM: 615665 PS213300

Related Diseases for Joubert Syndrome 22

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

Diseases related to Joubert Syndrome 22 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 1 27.9 UNC119B UNC119 PDE6D NPHP3 CFAP36 ARL3
2 orofaciodigital syndrome vi 9.9
3 ataxia and polyneuropathy, adult-onset 9.9
4 polydactyly 9.9
5 apraxia 9.9
6 microcephaly 9.9
7 hypotonia 9.9
8 oculomotor apraxia 9.9
9 cone-rod dystrophy 6 9.9 PDE6D ARL3
10 joubert syndrome 8 9.8 PDE6D NPHP3
11 renal-hepatic-pancreatic dysplasia 9.7 NPHP3 ARL3
12 senior-loken syndrome 1 9.6 PDE6D NPHP3
13 meckel syndrome, type 1 9.5 PDE6D NPHP3 ARL3
14 visceral heterotaxy 9.5 NPHP3 ARL3
15 leber plus disease 9.5 PDE6D NPHP3 ARL3
16 retinitis pigmentosa 2 9.4 UNC119B UNC119 PDE6D ARL3
17 bardet-biedl syndrome 9.2 UNC119 PDE6D NPHP3 ARL3
18 nephronophthisis 9.0 UNC119B UNC119 PDE6D NPHP3 ARL3
19 fundus dystrophy 8.9 UNC119B UNC119 PDE6D NPHP3 ARL3
20 retinitis pigmentosa 8.7 UNC119B UNC119 PDE6D NPHP3 CFAP36 ARL3

Graphical network of the top 20 diseases related to Joubert Syndrome 22:



Diseases related to Joubert Syndrome 22

Symptoms & Phenotypes for Joubert Syndrome 22

Human phenotypes related to Joubert Syndrome 22:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 microphthalmia 31 very rare (1%) HP:0000568
2 renal hypoplasia 31 very rare (1%) HP:0000089
3 postaxial hand polydactyly 31 very rare (1%) HP:0001162
4 postaxial foot polydactyly 31 very rare (1%) HP:0001830
5 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
6 molar tooth sign on mri 31 very rare (1%) HP:0002419
7 oculomotor apraxia 31 very rare (1%) HP:0000657
8 generalized hypotonia 31 very rare (1%) HP:0001290
9 coloboma 31 very rare (1%) HP:0000589
10 2-3 toe syndactyly 31 very rare (1%) HP:0004691
11 agenesis of cerebellar vermis 31 very rare (1%) HP:0002335
12 temporal cortical atrophy 31 very rare (1%) HP:0007112
13 undetectable electroretinogram 31 very rare (1%) HP:0000550
14 global developmental delay 31 HP:0001263
15 abnormal facial shape 31 HP:0001999
16 intrauterine growth retardation 31 HP:0001511
17 retinal dysplasia 31 HP:0007973

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
intrauterine growth retardation

Genitourinary Kidneys:
renal hypoplasia

Head And Neck Face:
facial dysmorphism

Head And Neck Eyes:
microphthalmia
coloboma
retinal dysplasia
extinguished electroretinogram

Skeletal Feet:
syndactyly
polydactyly, postaxial

Neurologic Central Nervous System:
delayed psychomotor development
molar tooth sign on brain imaging
stretched cerebellar peduncles

Clinical features from OMIM®:

615665 (Updated 05-Apr-2021)

Drugs & Therapeutics for Joubert Syndrome 22

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 22

Genetic Tests for Joubert Syndrome 22

Genetic tests related to Joubert Syndrome 22:

# Genetic test Affiliating Genes
1 Joubert Syndrome 22 29 PDE6D

Anatomical Context for Joubert Syndrome 22

MalaCards organs/tissues related to Joubert Syndrome 22:

40
Brain

Publications for Joubert Syndrome 22

Articles related to Joubert Syndrome 22:

# Title Authors PMID Year
1
A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22). 61 57 6
30423442 2019
2
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. 6 57
24166846 2014

Variations for Joubert Syndrome 22

ClinVar genetic disease variations for Joubert Syndrome 22:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDE6D NM_002601.4(PDE6D):c.140-1G>A SNV Pathogenic 100773 rs587777156 GRCh37: 2:232602849-232602849
GRCh38: 2:231738139-231738139
2 PDE6D NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs) Insertion Pathogenic/Likely pathogenic 590801 rs1559307932 GRCh37: 2:232601900-232601901
GRCh38: 2:231737190-231737191
3 PDE6D NM_002601.4(PDE6D):c.257del (p.Cys86fs) Deletion Likely pathogenic 917951 GRCh37: 2:232602731-232602731
GRCh38: 2:231738021-231738021
4 PDE6D NM_002601.4(PDE6D):c.311C>T (p.Thr104Ile) SNV Uncertain significance 999226 GRCh37: 2:232601957-232601957
GRCh38: 2:231737247-231737247
5 PDE6D NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn) SNV Likely benign 541700 rs146510084 GRCh37: 2:232597706-232597706
GRCh38: 2:231732996-231732996
6 PDE6D NM_002601.4(PDE6D):c.140-3C>T SNV Likely benign 707009 rs368073853 GRCh37: 2:232602851-232602851
GRCh38: 2:231738141-231738141
7 PDE6D NM_002601.4(PDE6D):c.258C>T (p.Cys86=) SNV Likely benign 772606 rs151191604 GRCh37: 2:232602730-232602730
GRCh38: 2:231738020-231738020
8 PDE6D NM_002601.4(PDE6D):c.371+8A>C SNV Benign 446086 rs75242814 GRCh37: 2:232601889-232601889
GRCh38: 2:231737179-231737179

Expression for Joubert Syndrome 22

Search GEO for disease gene expression data for Joubert Syndrome 22.

Pathways for Joubert Syndrome 22

Pathways related to Joubert Syndrome 22 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.98 UNC119B PDE6D NPHP3 ARL3
2
Show member pathways
10.95 UNC119B PDE6D NPHP3 ARL3

GO Terms for Joubert Syndrome 22

Cellular components related to Joubert Syndrome 22 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.35 UNC119B PDE6D NPHP3 CFAP36 ARL3
2 ciliary transition zone GO:0035869 9.16 UNC119B CFAP36
3 cilium GO:0005929 9.02 UNC119B PDE6D NPHP3 CFAP36 ARL3

Biological processes related to Joubert Syndrome 22 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.43 UNC119B UNC119 ARL3
2 kidney development GO:0001822 9.32 NPHP3 ARL3
3 mitotic cytokinesis GO:0000281 9.16 UNC119 ARL3
4 cilium assembly GO:0060271 9.13 UNC119B NPHP3 ARL3
5 lipoprotein transport GO:0042953 8.62 UNC119B UNC119

Sources for Joubert Syndrome 22

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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