MCID: JBR031
MIFTS: 25

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 57 12 75 29 6 73
Jbts21 57 12 75
Joubert Syndrome, Type 21 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
may result in early death
variable features
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 : 57 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 apnea, cerebellar ataxia and dyspnea. An important gene associated with Joubert Syndrome 21 is CSPP1 (Centrosome And Spindle Pole Associated Protein 1). Affiliated tissues include liver, kidney and brain, and related phenotypes are renal cyst and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 75 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.

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

Symptoms & Phenotypes for Joubert Syndrome 21

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
strabismus
oculomotor apraxia
retinopathy (in some patients)
fused eyes (1 family)
more
Neurologic Central Nervous System:
hypoplasia of the brainstem
hypotonia
mental retardation
cerebellar ataxia
posterior fossa cyst
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)

Respiratory:
dyspnea
apnea
abnormal breathing pattern

Respiratory Lung:
pulmonary hypoplasia (in some patients)

Head And Neck Nose:
single nostril (1 family)

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)
# Description HPO Frequency HPO Source Accession
1 renal cyst 32 occasional (7.5%) HP:0000107
2 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
3 strabismus 32 HP:0000486
4 retinopathy 32 occasional (7.5%) HP:0000488
5 ptosis 32 HP:0000508
6 anophthalmia 32 occasional (7.5%) HP:0000528
7 oculomotor apraxia 32 HP:0000657
8 intellectual disability 32 HP:0001249
9 ataxia 32 HP:0001251
10 global developmental delay 32 HP:0001263
11 generalized hypotonia 32 HP:0001290
12 bell-shaped thorax 32 occasional (7.5%) HP:0001591
13 hypoplasia of the corpus callosum 32 HP:0002079
14 occipital encephalocele 32 occasional (7.5%) HP:0002085
15 pulmonary hypoplasia 32 occasional (7.5%) HP:0002089
16 dyspnea 32 HP:0002094
17 apnea 32 HP:0002104
18 hypoplasia of the brainstem 32 HP:0002365
19 hyperechogenic kidneys 32 occasional (7.5%) HP:0004719
20 posterior fossa cyst 32 HP:0007291
21 single naris 32 occasional (7.5%) HP:0009932
22 elongated superior cerebellar peduncle 32 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 29 CSPP1

Anatomical Context for Joubert Syndrome 21

MalaCards organs/tissues related to Joubert Syndrome 21:

41
Liver, Kidney, Brain, Eye

Publications for Joubert Syndrome 21

Variations for Joubert Syndrome 21

ClinVar genetic disease variations for Joubert Syndrome 21:

6
(show top 50) (show all 78)
# 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.2320C> T (p.Arg774Ter) single nucleotide variant Pathogenic rs587777138 GRCh38 Chromosome 8, 67158540: 67158540
3 CSPP1 NM_024790.6(CSPP1): c.2244_2245delAA (p.Glu750Glyfs) deletion Pathogenic rs587777139 GRCh37 Chromosome 8, 68070699: 68070700
4 CSPP1 NM_024790.6(CSPP1): c.2244_2245delAA (p.Glu750Glyfs) deletion Pathogenic rs587777139 GRCh38 Chromosome 8, 67158464: 67158465
5 CSPP1 NM_024790.6(CSPP1): c.2280delA (p.Glu761Lysfs) deletion Pathogenic rs587777140 GRCh37 Chromosome 8, 68070735: 68070735
6 CSPP1 NM_024790.6(CSPP1): c.2280delA (p.Glu761Lysfs) deletion Pathogenic rs587777140 GRCh38 Chromosome 8, 67158500: 67158500
7 CSPP1 NM_024790.6(CSPP1): c.3212dupA (p.Tyr1071Terfs) duplication Pathogenic rs587777141 GRCh37 Chromosome 8, 68102891: 68102891
8 CSPP1 NM_024790.6(CSPP1): c.3212dupA (p.Tyr1071Terfs) duplication Pathogenic rs587777141 GRCh38 Chromosome 8, 67190656: 67190656
9 CSPP1 NM_024790.6(CSPP1): c.2953+1G> A single nucleotide variant Pathogenic rs587777142 GRCh37 Chromosome 8, 68084791: 68084791
10 CSPP1 NM_024790.6(CSPP1): c.2953+1G> A single nucleotide variant Pathogenic rs587777142 GRCh38 Chromosome 8, 67172556: 67172556
11 CSPP1 NM_024790.6(CSPP1): c.2527_2528delAT (p.Met843Glufs) deletion Pathogenic rs587777143 GRCh37 Chromosome 8, 68074049: 68074050
12 CSPP1 NM_024790.6(CSPP1): c.2527_2528delAT (p.Met843Glufs) deletion Pathogenic rs587777143 GRCh38 Chromosome 8, 67161814: 67161815
13 CSPP1 NM_024790.6(CSPP1): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs375113643 GRCh37 Chromosome 8, 68007675: 68007675
14 CSPP1 NM_024790.6(CSPP1): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs375113643 GRCh38 Chromosome 8, 67095440: 67095440
15 CSPP1 NM_024790.6(CSPP1): c.363_364delTA (p.His121Glnfs) deletion Pathogenic rs587777144 GRCh37 Chromosome 8, 67998297: 67998298
16 CSPP1 NM_024790.6(CSPP1): c.363_364delTA (p.His121Glnfs) deletion Pathogenic rs587777144 GRCh38 Chromosome 8, 67086062: 67086063
17 CSPP1 NM_024790.6(CSPP1): c.2244_2247delAAGA (p.Glu750Lysfs) deletion Pathogenic rs587777145 GRCh37 Chromosome 8, 68070699: 68070702
18 CSPP1 NM_024790.6(CSPP1): c.2244_2247delAAGA (p.Glu750Lysfs) deletion Pathogenic rs587777145 GRCh38 Chromosome 8, 67158464: 67158467
19 CSPP1 NM_024790.6(CSPP1): c.652C> T (p.Gln218Ter) single nucleotide variant Pathogenic rs587777146 GRCh37 Chromosome 8, 68007669: 68007669
20 CSPP1 NM_024790.6(CSPP1): c.652C> T (p.Gln218Ter) single nucleotide variant Pathogenic rs587777146 GRCh38 Chromosome 8, 67095434: 67095434
21 CSPP1 NM_024790.6(CSPP1): c.2773C> T (p.Arg925Ter) single nucleotide variant Pathogenic rs537456518 GRCh37 Chromosome 8, 68076703: 68076703
22 CSPP1 NM_024790.6(CSPP1): c.2773C> T (p.Arg925Ter) single nucleotide variant Pathogenic rs537456518 GRCh38 Chromosome 8, 67164468: 67164468
23 CSPP1 NM_024790.6(CSPP1): c.457delA (p.Arg153Glyfs) deletion Pathogenic rs863225192 GRCh38 Chromosome 8, 67093588: 67093588
24 CSPP1 NM_024790.6(CSPP1): c.457delA (p.Arg153Glyfs) deletion Pathogenic rs863225192 GRCh37 Chromosome 8, 68005823: 68005823
25 CSPP1 NM_024790.6(CSPP1): c.950+1G> C single nucleotide variant Pathogenic rs863225194 GRCh38 Chromosome 8, 67095733: 67095733
26 CSPP1 NM_024790.6(CSPP1): c.950+1G> C single nucleotide variant Pathogenic rs863225194 GRCh37 Chromosome 8, 68007968: 68007968
27 CSPP1 NM_024790.6(CSPP1): c.1132C> T (p.Arg378Ter) single nucleotide variant Pathogenic/Likely pathogenic rs374703898 GRCh38 Chromosome 8, 67111983: 67111983
28 CSPP1 NM_024790.6(CSPP1): c.1132C> T (p.Arg378Ter) single nucleotide variant Pathogenic/Likely pathogenic rs374703898 GRCh37 Chromosome 8, 68024218: 68024218
29 CSPP1 NM_024790.6(CSPP1): c.1682+1G> T single nucleotide variant Pathogenic rs863225193 GRCh38 Chromosome 8, 67118822: 67118822
30 CSPP1 NM_024790.6(CSPP1): c.1682+1G> T single nucleotide variant Pathogenic rs863225193 GRCh37 Chromosome 8, 68031057: 68031057
31 CSPP1 NM_024790.6(CSPP1): c.2260C> T (p.Arg754Ter) single nucleotide variant Pathogenic rs771203308 GRCh38 Chromosome 8, 67158480: 67158480
32 CSPP1 NM_024790.6(CSPP1): c.2260C> T (p.Arg754Ter) single nucleotide variant Pathogenic rs771203308 GRCh37 Chromosome 8, 68070715: 68070715
33 CSPP1 NM_024790.6(CSPP1): c.2433_2436delAGAA (p.Lys814Argfs) deletion Pathogenic rs761382780 GRCh38 Chromosome 8, 67159047: 67159050
34 CSPP1 NM_024790.6(CSPP1): c.2433_2436delAGAA (p.Lys814Argfs) deletion Pathogenic rs761382780 GRCh37 Chromosome 8, 68071282: 68071285
35 CSPP1 NM_024790.6(CSPP1): c.2448_2454delAGAAGAA (p.Glu817Lysfs) deletion Pathogenic rs863225195 GRCh37 Chromosome 8, 68071297: 68071303
36 CSPP1 NM_024790.6(CSPP1): c.2448_2454delAGAAGAA (p.Glu817Lysfs) deletion Pathogenic rs863225195 GRCh38 Chromosome 8, 67159062: 67159068
37 CSPP1 NM_024790.6(CSPP1): c.2448_2454dupAGAAGAA (p.Glu819Argfs) duplication Pathogenic rs863225191 GRCh38 Chromosome 8, 67159062: 67159068
38 CSPP1 NM_024790.6(CSPP1): c.2448_2454dupAGAAGAA (p.Glu819Argfs) duplication Pathogenic rs863225191 GRCh37 Chromosome 8, 68071297: 68071303
39 CSPP1 NM_024790.6(CSPP1): c.2708delA (p.Asn903Metfs) deletion Pathogenic rs863225190 GRCh37 Chromosome 8, 68076638: 68076638
40 CSPP1 NM_024790.6(CSPP1): c.2708delA (p.Asn903Metfs) deletion Pathogenic rs863225190 GRCh38 Chromosome 8, 67164403: 67164403
41 CSPP1 NM_024790.6(CSPP1): c.3205+1G> A single nucleotide variant Pathogenic rs773954226 GRCh38 Chromosome 8, 67179927: 67179927
42 CSPP1 NM_024790.6(CSPP1): c.3205+1G> A single nucleotide variant Pathogenic rs773954226 GRCh37 Chromosome 8, 68092162: 68092162
43 CSPP1 NM_024790.6(CSPP1): c.1180G> T (p.Glu394Ter) single nucleotide variant Pathogenic rs886044058 GRCh37 Chromosome 8, 68024266: 68024266
44 CSPP1 NM_024790.6(CSPP1): c.1180G> T (p.Glu394Ter) single nucleotide variant Pathogenic rs886044058 GRCh38 Chromosome 8, 67112031: 67112031
45 CSPP1 NM_024790.6(CSPP1): c.2377-8_2377-4delTTTTA deletion Conflicting interpretations of pathogenicity rs1057517916 GRCh37 Chromosome 8, 68071218: 68071222
46 CSPP1 NM_024790.6(CSPP1): c.2377-8_2377-4delTTTTA deletion Conflicting interpretations of pathogenicity rs1057517916 GRCh38 Chromosome 8, 67158983: 67158987
47 CSPP1 NM_024790.6(CSPP1): c.159C> T (p.Ala53=) single nucleotide variant Likely benign rs370003497 GRCh37 Chromosome 8, 67986538: 67986538
48 CSPP1 NM_024790.6(CSPP1): c.159C> T (p.Ala53=) single nucleotide variant Likely benign rs370003497 GRCh38 Chromosome 8, 67074303: 67074303
49 CSPP1 NM_024790.6(CSPP1): c.30A> G (p.Val10=) single nucleotide variant Benign rs181470846 GRCh37 Chromosome 8, 67976663: 67976663
50 CSPP1 NM_024790.6(CSPP1): c.30A> G (p.Val10=) single nucleotide variant Benign rs181470846 GRCh38 Chromosome 8, 67064428: 67064428

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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