MCID: JBR030
MIFTS: 22

Joubert Syndrome 22

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Nephrological diseases

Aliases & Classifications for Joubert Syndrome 22

MalaCards integrated aliases for Joubert Syndrome 22:

Name: Joubert Syndrome 22 57 12 75 29 6 73
Jbts22 57 12 75
Joubert Syndrome, Type 22 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
joubert syndrome 22:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 22

UniProtKB/Swiss-Prot : 75 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, is also known as jbts22. An important gene associated with Joubert Syndrome 22 is PDE6D (Phosphodiesterase 6D). Affiliated tissues include liver and brain, and related phenotypes are global developmental delay and abnormal facial shape

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

Description from OMIM: 615665

Symptoms & Phenotypes for Joubert Syndrome 22

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
intrauterine growth retardation

Genitourinary Kidneys:
renal hypoplasia

Head And Neck Face:
facial dysmorphism

Head And Neck Eyes:
microphthalmia
retinal dysplasia
coloboma
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

Human phenotypes related to Joubert Syndrome 22:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 abnormal facial shape 32 HP:0001999
3 intrauterine growth retardation 32 HP:0001511
4 microphthalmia 32 HP:0000568
5 retinal dysplasia 32 HP:0007973
6 renal hypoplasia 32 HP:0000089
7 postaxial hand polydactyly 32 HP:0001162
8 molar tooth sign on mri 32 HP:0002419
9 coloboma 32 HP:0000589
10 syndactyly 32 HP:0001159
11 undetectable electroretinogram 32 HP:0000550

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:

41
Liver, Brain

Publications for Joubert Syndrome 22

Variations for Joubert Syndrome 22

ClinVar genetic disease variations for Joubert Syndrome 22:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PDE6D NM_002601.3(PDE6D): c.140-1G> A single nucleotide variant Pathogenic rs587777156 GRCh37 Chromosome 2, 232602849: 232602849
2 PDE6D NM_002601.3(PDE6D): c.140-1G> A single nucleotide variant Pathogenic rs587777156 GRCh38 Chromosome 2, 231738139: 231738139
3 PDE6D NM_002601.3(PDE6D): c.409G> A (p.Asp137Asn) single nucleotide variant Likely benign rs146510084 GRCh37 Chromosome 2, 232597706: 232597706
4 PDE6D NM_002601.3(PDE6D): c.409G> A (p.Asp137Asn) single nucleotide variant Likely benign rs146510084 GRCh38 Chromosome 2, 231732996: 231732996

Expression for Joubert Syndrome 22

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

Pathways for Joubert Syndrome 22

GO Terms for Joubert Syndrome 22

Sources for Joubert Syndrome 22

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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