MCID: JBR031
MIFTS: 24

Joubert Syndrome 21

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

Aliases & Classifications for Joubert Syndrome 21

MalaCards integrated aliases for Joubert Syndrome 21:

Name: Joubert Syndrome 21 53 12 71 28 69
Jbts21 53 12 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
may result in early death
variable features
prenatal onset


HPO:

31
joubert syndrome 21:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 21

OMIM : 53 Joubert syndrome is an autosomal recessive congenital condition characterized by a unique brainstem and cerebellar malformation comprising cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, and deepened interpeduncular fossa, which together are recognized as the 'molar tooth sign' on brain MRI. The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. Additional features may include retinal degeneration, cystic kidney, liver fibrosis, and polydactyly. It is caused by ciliary defects and is part of a spectrum of disorders known as 'ciliopathies' (summary by Akizu et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (615636)

MalaCards based summary : Joubert Syndrome 21, is also known as jbts21, and has symptoms including ataxia, dyspnea and ptosis. An important gene associated with Joubert Syndrome 21 is CSPP1 (Centrosome And Spindle Pole Associated Protein 1). Affiliated tissues include liver, kidney and brain.

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13.

UniProtKB/Swiss-Prot : 71 Joubert syndrome 21: 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.

Symptoms & Phenotypes for Joubert Syndrome 21

Symptoms via clinical synopsis from OMIM:

53
Respiratory:
dyspnea
apnea
abnormal breathing pattern

Head And Neck Eyes:
ptosis
strabismus
oculomotor apraxia
retinopathy (in some patients)
fused eyes (1 family)
more
Head And Neck Ears:
sensorineural hearing loss (2 patients)

Chest External Features:
bell-shaped chest (in some patients)

Abdomen Liver:
liver fibrosis (in some patients)

Neurologic Central Nervous System:
cerebellar ataxia
hypoplasia of the brainstem
hypotonia
mental retardation
posterior fossa cyst
more
Respiratory Lung:
pulmonary hypoplasia (in some patients)

Head And Neck Nose:
single nostril (1 family)

Chest RibsSternum Clavicles And Scapulae:
short, horizontal ribs (in some patients)

Genitourinary Kidneys:
hyperechogenic kidneys (in some patients)
cystic kidneys (in some patients)


Clinical features from OMIM:

615636

Human phenotypes related to Joubert Syndrome 21:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 dyspnea 31 HP:0002094
3 ptosis 31 HP:0000508
4 intellectual disability 31 HP:0001249
5 global developmental delay 31 HP:0001263
6 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
7 retinopathy 31 occasional (7.5%) HP:0000488
8 strabismus 31 HP:0000486
9 apnea 31 HP:0002104
10 anophthalmia 31 occasional (7.5%) HP:0000528
11 hypoplasia of the corpus callosum 31 HP:0002079
12 pulmonary hypoplasia 31 occasional (7.5%) HP:0002089
13 renal cyst 31 occasional (7.5%) HP:0000107
14 oculomotor apraxia 31 HP:0000657
15 occipital encephalocele 31 occasional (7.5%) HP:0002085
16 generalized hypotonia 31 HP:0001290
17 bell-shaped thorax 31 occasional (7.5%) HP:0001591
18 single naris 31 occasional (7.5%) HP:0009932
19 hypoplasia of the brainstem 31 HP:0002365
20 posterior fossa cyst 31 HP:0007291
21 hyperechogenic kidneys 31 occasional (7.5%) HP:0004719
22 elongated superior cerebellar peduncle 31 HP:0011933

UMLS symptoms related to Joubert Syndrome 21:


apnea, cerebellar ataxia, dyspnea

Drugs & Therapeutics for Joubert Syndrome 21

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 21

Genetic Tests for Joubert Syndrome 21

Genetic tests related to Joubert Syndrome 21:

# Genetic test Affiliating Genes
1 Joubert Syndrome 21 28 CSPP1

Anatomical Context for Joubert Syndrome 21

MalaCards organs/tissues related to Joubert Syndrome 21:

38
Liver, Kidney, Brain, Eye

Publications for Joubert Syndrome 21

Variations for Joubert Syndrome 21

ClinVar genetic disease variations for Joubert Syndrome 21:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 CSPP1 NM_024790.6(CSPP1): c.2320C> T (p.Arg774Ter) single nucleotide variant Pathogenic rs587777138 GRCh37 Chromosome 8, 68070775: 68070775
2 CSPP1 NM_024790.6(CSPP1): c.2244_2245delAA (p.Glu750Glyfs) deletion Pathogenic rs587777139 GRCh37 Chromosome 8, 68070699: 68070700
3 CSPP1 NM_024790.6(CSPP1): c.2280delA (p.Glu761Lysfs) deletion Pathogenic rs587777140 GRCh37 Chromosome 8, 68070735: 68070735
4 CSPP1 NM_024790.6(CSPP1): c.3212dupA (p.Tyr1071Terfs) duplication Pathogenic rs587777141 GRCh37 Chromosome 8, 68102891: 68102891
5 CSPP1 NM_024790.6(CSPP1): c.2953+1G> A single nucleotide variant Pathogenic rs587777142 GRCh37 Chromosome 8, 68084791: 68084791
6 CSPP1 NM_024790.6(CSPP1): c.2527_2528delAT (p.Met843Glufs) deletion Pathogenic rs587777143 GRCh37 Chromosome 8, 68074049: 68074050
7 CSPP1 NM_024790.6(CSPP1): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs375113643 GRCh37 Chromosome 8, 68007675: 68007675
8 CSPP1 NM_024790.6(CSPP1): c.363_364delTA (p.His121Glnfs) deletion Pathogenic rs587777144 GRCh37 Chromosome 8, 67998297: 67998298
9 CSPP1 NM_024790.6(CSPP1): c.2244_2247delAAGA (p.Glu750Lysfs) deletion Pathogenic/Likely pathogenic rs587777145 GRCh37 Chromosome 8, 68070699: 68070702
10 CSPP1 NM_024790.6(CSPP1): c.652C> T (p.Gln218Ter) single nucleotide variant Pathogenic rs587777146 GRCh37 Chromosome 8, 68007669: 68007669
11 CSPP1 NM_024790.6(CSPP1): c.2773C> T (p.Arg925Ter) single nucleotide variant Pathogenic rs537456518 GRCh37 Chromosome 8, 68076703: 68076703
12 CSPP1 NM_024790.6(CSPP1): c.457delA (p.Arg153Glyfs) deletion Pathogenic rs863225192 GRCh38 Chromosome 8, 67093588: 67093588
13 CSPP1 NM_024790.6(CSPP1): c.950+1G> C single nucleotide variant Pathogenic rs863225194 GRCh38 Chromosome 8, 67095733: 67095733
14 CSPP1 NM_024790.6(CSPP1): c.1132C> T (p.Arg378Ter) single nucleotide variant Pathogenic/Likely pathogenic rs374703898 GRCh38 Chromosome 8, 67111983: 67111983
15 CSPP1 NM_024790.6(CSPP1): c.1682+1G> T single nucleotide variant Pathogenic rs863225193 GRCh38 Chromosome 8, 67118822: 67118822
16 CSPP1 NM_024790.6(CSPP1): c.2260C> T (p.Arg754Ter) single nucleotide variant Pathogenic rs771203308 GRCh38 Chromosome 8, 67158480: 67158480
17 CSPP1 NM_024790.6(CSPP1): c.2433_2436delAGAA (p.Lys814Argfs) deletion Pathogenic rs761382780 GRCh38 Chromosome 8, 67159047: 67159050
18 CSPP1 NM_024790.6(CSPP1): c.2448_2454delAGAAGAA (p.Glu817Lysfs) deletion Pathogenic rs863225195 GRCh37 Chromosome 8, 68071297: 68071303
19 CSPP1 NM_024790.6(CSPP1): c.2448_2454dupAGAAGAA (p.Glu819Argfs) duplication Pathogenic rs863225191 GRCh38 Chromosome 8, 67159062: 67159068
20 CSPP1 NM_024790.6(CSPP1): c.2708delA (p.Asn903Metfs) deletion Pathogenic rs863225190 GRCh37 Chromosome 8, 68076638: 68076638
21 CSPP1 NM_024790.6(CSPP1): c.3205+1G> A single nucleotide variant Pathogenic rs773954226 GRCh38 Chromosome 8, 67179927: 67179927
22 CSPP1 NM_024790.6(CSPP1): c.1180G> T (p.Glu394Ter) single nucleotide variant Pathogenic rs886044058 GRCh37 Chromosome 8, 68024266: 68024266
23 CSPP1 NM_024790.6(CSPP1): c.2205C> A (p.Tyr735Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 8, 67154115: 67154115
24 CSPP1 NM_024790.6(CSPP1): c.2814-10_2953+10del deletion Pathogenic GRCh38 Chromosome 8, 67172406: 67172565

Expression for Joubert Syndrome 21

Search GEO for disease gene expression data for Joubert Syndrome 21.

Pathways for Joubert Syndrome 21

GO Terms for Joubert Syndrome 21

Sources for Joubert Syndrome 21

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16 ExPASy
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