MCID: JBR042
MIFTS: 23

Joubert Syndrome 23

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

Aliases & Classifications for Joubert Syndrome 23

MalaCards integrated aliases for Joubert Syndrome 23:

Name: Joubert Syndrome 23 57 12 75 29 6
Jbts23 57 12 75
Joubert Syndrome, Type 23 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
nine patients have been reported (last curated july 2015)
relatively mild phenotype


HPO:

32
joubert syndrome 23:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 23

OMIM : 57 Joubert syndrome-23 is an autosomal recessive neurodevelopmental disorder characterized by delayed development, abnormal eye movements, and abnormal breathing pattern associated with a characteristic hindbrain malformation apparent on brain imaging and known as the 'molar tooth sign.' Compared to other forms of Joubert syndrome, the phenotype is relatively mild, and other organ systems are generally not affected (summary by Bachmann-Gagescu et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (616490)

MalaCards based summary : Joubert Syndrome 23, also known as jbts23, is related to joubert syndrome 1 and short-rib thoracic dysplasia 14 with polydactyly. An important gene associated with Joubert Syndrome 23 is KIAA0586 (KIAA0586). Affiliated tissues include eye, brain and liver, and related phenotypes are abnormality of eye movement and global developmental delay

Disease Ontology : 12 A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has material basis in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23.

UniProtKB/Swiss-Prot : 75 Joubert syndrome 23: A mild form of Joubert syndrome, 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 23

Symptoms & Phenotypes for Joubert Syndrome 23

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
abnormal eye movements
coloboma (1 patient)

Skeletal Hands:
polydactyly (1 patient)

Respiratory:
apnea
tachypnea

Neurologic Central Nervous System:
delayed development
molar tooth sign on brain imaging
cerebellar dysplasia (1 patient)
brainstem heterotopia (2 patients)
dysplastic corpus callosum (1 patient)


Clinical features from OMIM:

616490

Human phenotypes related to Joubert Syndrome 23:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 abnormality of eye movement 32 HP:0000496
2 global developmental delay 32 HP:0001263
3 apnea 32 HP:0002104
4 cerebellar dysplasia 32 occasional (7.5%) HP:0007033
5 tachypnea 32 HP:0002789
6 coloboma 32 occasional (7.5%) HP:0000589
7 dysplastic corpus callosum 32 occasional (7.5%) HP:0006989
8 polydactyly 32 occasional (7.5%) HP:0010442

Drugs & Therapeutics for Joubert Syndrome 23

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 23

Genetic Tests for Joubert Syndrome 23

Genetic tests related to Joubert Syndrome 23:

# Genetic test Affiliating Genes
1 Joubert Syndrome 23 29 KIAA0586

Anatomical Context for Joubert Syndrome 23

MalaCards organs/tissues related to Joubert Syndrome 23:

41
Eye, Brain, Liver

Publications for Joubert Syndrome 23

Variations for Joubert Syndrome 23

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 23:

75
# Symbol AA change Variation ID SNP ID
1 KIAA0586 p.Asp566Val VAR_074596

ClinVar genetic disease variations for Joubert Syndrome 23:

6
(show top 50) (show all 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIAA0586 NM_001244189.1(KIAA0586): c.863_864delAA (p.Gln288Argfs) deletion Pathogenic rs770566897 GRCh37 Chromosome 14, 58910790: 58910791
2 KIAA0586 NM_001244189.1(KIAA0586): c.428delG (p.Arg143Lysfs) deletion Pathogenic rs534542684 GRCh38 Chromosome 14, 58432439: 58432439
3 KIAA0586 NM_001244189.1(KIAA0586): c.428delG (p.Arg143Lysfs) deletion Pathogenic rs534542684 GRCh37 Chromosome 14, 58899157: 58899157
4 KIAA0586 NM_001244189.1(KIAA0586): c.1413-1G> C single nucleotide variant Pathogenic rs757350052 GRCh38 Chromosome 14, 58456701: 58456701
5 KIAA0586 NM_001244189.1(KIAA0586): c.1413-1G> C single nucleotide variant Pathogenic rs757350052 GRCh37 Chromosome 14, 58923419: 58923419
6 KIAA0586 NM_001244189.1(KIAA0586): c.1159C> T (p.Gln387Ter) single nucleotide variant Pathogenic rs796052128 GRCh37 Chromosome 14, 58917335: 58917335
7 KIAA0586 NM_001244189.1(KIAA0586): c.1159C> T (p.Gln387Ter) single nucleotide variant Pathogenic rs796052128 GRCh38 Chromosome 14, 58450617: 58450617
8 KIAA0586 NM_001244189.1(KIAA0586): c.863_864delAA (p.Gln288Argfs) deletion Pathogenic rs770566897 GRCh38 Chromosome 14, 58444072: 58444073
9 KIAA0586 NM_001244189.1(KIAA0586): c.1697A> T (p.Asp566Val) single nucleotide variant Pathogenic rs796052129 GRCh37 Chromosome 14, 58924652: 58924652
10 KIAA0586 NM_001244189.1(KIAA0586): c.1697A> T (p.Asp566Val) single nucleotide variant Pathogenic rs796052129 GRCh38 Chromosome 14, 58457934: 58457934
11 KIAA0586 NM_001244189.1(KIAA0586): c.802C> T (p.Gln268Ter) single nucleotide variant Pathogenic rs201097695 GRCh37 Chromosome 14, 58910729: 58910729
12 KIAA0586 NM_001244189.1(KIAA0586): c.802C> T (p.Gln268Ter) single nucleotide variant Pathogenic rs201097695 GRCh38 Chromosome 14, 58444011: 58444011
13 KIAA0586 NM_001244189.1(KIAA0586): c.1430_1433delAGCTinsGA (p.Glu477Glyfs) indel Pathogenic rs869312856 GRCh38 Chromosome 14, 58456719: 58456722
14 KIAA0586 NM_001244189.1(KIAA0586): c.1430_1433delAGCTinsGA (p.Glu477Glyfs) indel Pathogenic rs869312856 GRCh37 Chromosome 14, 58923437: 58923440
15 KIAA0586 NM_001244189.1(KIAA0586): c.1730_1734delTATCT (p.Leu577Tyrfs) deletion Pathogenic rs863225203 GRCh38 Chromosome 14, 58457967: 58457971
16 KIAA0586 NM_001244189.1(KIAA0586): c.1730_1734delTATCT (p.Leu577Tyrfs) deletion Pathogenic rs863225203 GRCh37 Chromosome 14, 58924685: 58924689
17 KIAA0586 NM_001244189.1(KIAA0586): c.3303G> A (p.Pro1101=) single nucleotide variant Pathogenic rs540255320 GRCh38 Chromosome 14, 58482712: 58482712
18 KIAA0586 NM_001244189.1(KIAA0586): c.3303G> A (p.Pro1101=) single nucleotide variant Pathogenic rs540255320 GRCh37 Chromosome 14, 58949430: 58949430
19 KIAA0586 NM_001244189.1(KIAA0586): c.949C> T (p.Gln317Ter) single nucleotide variant Pathogenic rs1057516038 GRCh38 Chromosome 14, 58444158: 58444158
20 KIAA0586 NM_001244189.1(KIAA0586): c.949C> T (p.Gln317Ter) single nucleotide variant Pathogenic rs1057516038 GRCh37 Chromosome 14, 58910876: 58910876
21 KIAA0586 NM_001244189.1(KIAA0586): c.581T> C (p.Met194Thr) single nucleotide variant Benign/Likely benign rs61735931 GRCh37 Chromosome 14, 58909435: 58909435
22 KIAA0586 NM_001244189.1(KIAA0586): c.581T> C (p.Met194Thr) single nucleotide variant Benign/Likely benign rs61735931 GRCh38 Chromosome 14, 58442717: 58442717
23 KIAA0586 NM_014749.4(KIAA0586): c.3852_3853delCT (p.Met1286Alafs) deletion Likely pathogenic rs867342730 GRCh38 Chromosome 14, 58498872: 58498873
24 KIAA0586 NM_014749.4(KIAA0586): c.3852_3853delCT (p.Met1286Alafs) deletion Likely pathogenic rs867342730 GRCh37 Chromosome 14, 58965590: 58965591
25 KIAA0586 NM_014749.4(KIAA0586): c.94dup (p.His32Profs) duplication Likely pathogenic rs555421894 GRCh38 Chromosome 14, 58428358: 58428358
26 KIAA0586 NM_014749.4(KIAA0586): c.94dup (p.His32Profs) duplication Likely pathogenic rs555421894 GRCh37 Chromosome 14, 58895076: 58895076
27 KIAA0586 NM_001244189.1(KIAA0586): c.990C> T (p.Leu330=) single nucleotide variant Pathogenic rs780520735 GRCh38 Chromosome 14, 58448363: 58448363
28 KIAA0586 NM_001244189.1(KIAA0586): c.990C> T (p.Leu330=) single nucleotide variant Pathogenic rs780520735 GRCh37 Chromosome 14, 58915081: 58915081
29 KIAA0586 NM_001244189.1(KIAA0586): c.1204G> A (p.Val402Ile) single nucleotide variant Uncertain significance rs771000156 GRCh38 Chromosome 14, 58450662: 58450662
30 KIAA0586 NM_001244189.1(KIAA0586): c.1204G> A (p.Val402Ile) single nucleotide variant Uncertain significance rs771000156 GRCh37 Chromosome 14, 58917380: 58917380
31 KIAA0586 NM_001244189.1(KIAA0586): c.1215A> G (p.Ser405=) single nucleotide variant Benign rs148006211 GRCh38 Chromosome 14, 58450673: 58450673
32 KIAA0586 NM_001244189.1(KIAA0586): c.1215A> G (p.Ser405=) single nucleotide variant Benign rs148006211 GRCh37 Chromosome 14, 58917391: 58917391
33 KIAA0586 NM_001244189.1(KIAA0586): c.1729T> A (p.Leu577Ile) single nucleotide variant Benign rs61742715 GRCh38 Chromosome 14, 58457966: 58457966
34 KIAA0586 NM_001244189.1(KIAA0586): c.1729T> A (p.Leu577Ile) single nucleotide variant Benign rs61742715 GRCh37 Chromosome 14, 58924684: 58924684
35 KIAA0586 NM_001244189.1(KIAA0586): c.2894C> T (p.Pro965Leu) single nucleotide variant Benign rs139493302 GRCh38 Chromosome 14, 58474707: 58474707
36 KIAA0586 NM_001244189.1(KIAA0586): c.2894C> T (p.Pro965Leu) single nucleotide variant Benign rs139493302 GRCh37 Chromosome 14, 58941425: 58941425
37 KIAA0586 NM_001244189.1(KIAA0586): c.3263G> A (p.Gly1088Asp) single nucleotide variant Benign rs77860620 GRCh38 Chromosome 14, 58482672: 58482672
38 KIAA0586 NM_001244189.1(KIAA0586): c.3263G> A (p.Gly1088Asp) single nucleotide variant Benign rs77860620 GRCh37 Chromosome 14, 58949390: 58949390
39 KIAA0586 NM_001244189.1(KIAA0586): c.3324_3325delGCinsAG (p.Pro1109Ala) indel Benign rs386777947 GRCh38 Chromosome 14, 58487027: 58487028
40 KIAA0586 NM_001244189.1(KIAA0586): c.3324_3325delGCinsAG (p.Pro1109Ala) indel Benign rs386777947 GRCh37 Chromosome 14, 58953745: 58953746
41 KIAA0586 NM_001244189.1(KIAA0586): c.4464C> G (p.Ala1488=) single nucleotide variant Likely benign rs144692893 GRCh38 Chromosome 14, 58508691: 58508691
42 KIAA0586 NM_001244189.1(KIAA0586): c.4464C> G (p.Ala1488=) single nucleotide variant Likely benign rs144692893 GRCh37 Chromosome 14, 58975409: 58975409
43 KIAA0586 NM_001244189.1(KIAA0586): c.1389A> G (p.Gly463=) single nucleotide variant Benign rs10135645 GRCh38 Chromosome 14, 58453450: 58453450
44 KIAA0586 NM_001244189.1(KIAA0586): c.1389A> G (p.Gly463=) single nucleotide variant Benign rs10135645 GRCh37 Chromosome 14, 58920168: 58920168
45 KIAA0586 NM_001244189.1(KIAA0586): c.1598C> T (p.Thr533Ile) single nucleotide variant Benign rs61745119 GRCh38 Chromosome 14, 58457835: 58457835
46 KIAA0586 NM_001244189.1(KIAA0586): c.1598C> T (p.Thr533Ile) single nucleotide variant Benign rs61745119 GRCh37 Chromosome 14, 58924553: 58924553
47 KIAA0586 NM_001244189.1(KIAA0586): c.3878T> C (p.Leu1293Ser) single nucleotide variant Benign rs190271845 GRCh38 Chromosome 14, 58488812: 58488812
48 KIAA0586 NM_001244189.1(KIAA0586): c.3878T> C (p.Leu1293Ser) single nucleotide variant Benign rs190271845 GRCh37 Chromosome 14, 58955530: 58955530
49 KIAA0586 NM_001244189.1(KIAA0586): c.136G> T (p.Val46Phe) single nucleotide variant Benign rs186659284 GRCh38 Chromosome 14, 58428364: 58428364
50 KIAA0586 NM_001244189.1(KIAA0586): c.136G> T (p.Val46Phe) single nucleotide variant Benign rs186659284 GRCh37 Chromosome 14, 58895082: 58895082

Expression for Joubert Syndrome 23

Search GEO for disease gene expression data for Joubert Syndrome 23.

Pathways for Joubert Syndrome 23

GO Terms for Joubert Syndrome 23

Sources for Joubert Syndrome 23

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