MCID: JBR031
MIFTS: 26

Joubert Syndrome 21

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

Aliases & Classifications for Joubert Syndrome 21

MalaCards integrated aliases for Joubert Syndrome 21:

Name: Joubert Syndrome 21 54 12 71 29 69
Jbts21 12 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
joubert syndrome 21:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 21

OMIM : 54
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, also known as jbts21, is related to cspp1-related joubert syndrome, and has symptoms including ataxia, strabismus 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.

Related Diseases for Joubert Syndrome 21

Diseases in the Joubert Syndrome and Related Disorders family:

Joubert Syndrome 25 Joubert Syndrome 4
Joubert Syndrome 14 Joubert Syndrome 22
Joubert Syndrome 30 Joubert Syndrome 8
Joubert Syndrome 9 Joubert Syndrome 17
Joubert Syndrome 3 Joubert Syndrome 15
Joubert Syndrome 21 Joubert Syndrome 6
Joubert Syndrome 1 Joubert Syndrome 18
Joubert Syndrome 16 Joubert Syndrome 2
Joubert Syndrome 5 Joubert Syndrome 13
Joubert Syndrome 24 Joubert Syndrome 23
Joubert Syndrome 26 Joubert Syndrome 7
Joubert Syndrome 20 Joubert Syndrome 27
Joubert Syndrome 28 Joubert Syndrome 10
Ahi1-Related Joubert Syndrome Arl13b-Related Joubert Syndrome
C5orf42-Related Joubert Syndrome Cc2d2a-Related Joubert Syndrome
Cep290-Related Joubert Syndrome Cep41-Related Joubert Syndrome
Cspp1-Related Joubert Syndrome Inpp5e-Related Joubert Syndrome
Kiaa0586-Related Joubert Syndrome Kif7-Related Joubert Syndrome
Nphp1-Related Joubert Syndrome Ofd1-Related Joubert Syndrome
Pde6d-Related Joubert Syndrome Rpgrip1l-Related Joubert Syndrome
Tctn1-Related Joubert Syndrome Tctn2-Related Joubert Syndrome
Tctn3-Related Joubert Syndrome Tmem138-Related Joubert Syndrome
Tmem216-Related Joubert Syndrome Tmem231-Related Joubert Syndrome
Tmem237-Related Joubert Syndrome Tmem67-Related Joubert Syndrome
Ttc21b-Related Joubert Syndrome Znf423-Related Joubert Syndrome

Diseases related to Joubert Syndrome 21 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 cspp1-related joubert syndrome 10.8

Symptoms & Phenotypes for Joubert Syndrome 21

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
delayed psychomotor development
mental retardation
thin corpus callosum
cerebellar ataxia
more
Respiratory:
abnormal breathing pattern
apnea
dyspnea

Head And Neck- Nose:
single nostril (1 family)

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

Abdomen- Liver:
liver fibrosis (in some patients)

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

Respiratory- Lung:
pulmonary hypoplasia (in some patients)

Chest- Ribs Sternum 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:

32 (show all 22)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 strabismus 32 HP:0000486
3 ptosis 32 HP:0000508
4 oculomotor apraxia 32 HP:0000657
5 pulmonary hypoplasia 32 occasional (7.5%) HP:0002089
6 global developmental delay 32 HP:0001263
7 apnea 32 HP:0002104
8 intellectual disability 32 HP:0001249
9 hypoplasia of the corpus callosum 32 HP:0002079
10 dyspnea 32 HP:0002094
11 hyperechogenic kidneys 32 occasional (7.5%) HP:0004719
12 muscular hypotonia 32 HP:0001252
13 bell-shaped thorax 32 occasional (7.5%) HP:0001591
14 anophthalmia 32 occasional (7.5%) HP:0000528
15 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
16 retinopathy 32 occasional (7.5%) HP:0000488
17 occipital encephalocele 32 occasional (7.5%) HP:0002085
18 posterior fossa cyst 32 HP:0007291
19 hypoplasia of the brainstem 32 HP:0002365
20 single naris 32 occasional (7.5%) HP:0009932
21 renal cyst 32 occasional (7.5%) HP:0000107
22 elongated superior cerebellar peduncle 32 HP:0011933

UMLS symptoms related to Joubert Syndrome 21:


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:

id Genetic test Affiliating Genes
1 Joubert Syndrome 21 29

Anatomical Context for Joubert Syndrome 21

MalaCards organs/tissues related to Joubert Syndrome 21:

39
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)
id 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 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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10 dbSNP
11 DGIdb
16 ExPASy
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67 TGDB
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70 UMLS via Orphanet
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