JBTS26
MCID: JBR037
MIFTS: 33

Joubert Syndrome 26 (JBTS26)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Joubert Syndrome 26

MalaCards integrated aliases for Joubert Syndrome 26:

Name: Joubert Syndrome 26 57 12 72 29 6 15
Jbts26 57 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
three sibs born of consanguineous arab parents have been reported (last curated february 2016)


HPO:

31
joubert syndrome 26:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Joubert Syndrome 26

UniProtKB/Swiss-Prot : 72 Joubert syndrome 26: A 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. JBTS26 inheritance is autosomal recessive.

MalaCards based summary : Joubert Syndrome 26, also known as jbts26, is related to cerebellar malformation and oculomotor apraxia. An important gene associated with Joubert Syndrome 26 is KATNIP (Katanin Interacting Protein). Affiliated tissues include pituitary, and related phenotypes are global developmental delay and cleft palate

Disease Ontology : 12 A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has material basis in homozygous mutation in the KIAA0556 gene on chromosome 16p12.

OMIM® : 57 Joubert syndrome-26 (JBTS26) is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (616784) (Updated 05-Apr-2021)

Related Diseases for Joubert Syndrome 26

Diseases in the Joubert Syndrome 1 family:

Joubert Syndrome 10 Joubert Syndrome 2
Joubert Syndrome 3 Joubert Syndrome 4
Joubert Syndrome 5 Joubert Syndrome 6
Joubert Syndrome 7 Joubert Syndrome 9
Joubert Syndrome 8 Joubert Syndrome 13
Joubert Syndrome 14 Joubert Syndrome 15
Joubert Syndrome 16 Joubert Syndrome 17
Joubert Syndrome 18 Joubert Syndrome 20
Joubert Syndrome 21 Joubert Syndrome 22
Joubert Syndrome 23 Joubert Syndrome 24
Joubert Syndrome 25 Joubert Syndrome 26
Joubert Syndrome 27 Joubert Syndrome 28
Joubert Syndrome 30 Joubert Syndrome 32
Joubert Syndrome 31 Joubert Syndrome 33
Joubert Syndrome 35 Joubert Syndrome 36
Joubert Syndrome 37

Diseases related to Joubert Syndrome 26 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 cerebellar malformation 10.2 KATNIP CEP104
2 oculomotor apraxia 10.0 CSPP1 CEP104
3 apraxia 10.0 CSPP1 CEP104
4 acrocallosal syndrome 10.0 KIF7 KATNIP
5 coach syndrome 1 9.9 KIF7 CSPP1
6 joubert syndrome 15 9.8 KIF7 CEP41
7 bardet-biedl syndrome 1 9.8 KIF7 KATNB1 CEP97
8 joubert syndrome 3 9.8 KIF7 CEP41
9 senior-loken syndrome 1 9.7 CEP97 CEP104
10 ciliopathy 9.7 KIF7 KATNIP CEP41
11 joubert syndrome 25 9.5 KIF7 KATNIP CSPP1 CEP97 CEP104
12 asphyxiating thoracic dystrophy 9.5 KIF7 CSPP1 CEP41 CEP104
13 meckel syndrome, type 1 9.3 KIF7 CSPP1 CEP97 CEP41
14 nephronophthisis 9.3 KIF7 CSPP1 CEP97 CEP41
15 short-rib thoracic dysplasia 1 with or without polydactyly 9.3 KIF7 KATNIP CSPP1 CEP41 CEP104
16 fundus dystrophy 9.2 KIF7 KATNIP CSPP1 CEP97 CEP41
17 joubert syndrome 21 9.0 KIF7 KATNIP CSPP1 CEP97 CEP41 CEP104
18 joubert syndrome 1 9.0 KIF7 KATNIP CSPP1 CEP97 CEP41 CEP104

Graphical network of the top 20 diseases related to Joubert Syndrome 26:



Diseases related to Joubert Syndrome 26

Symptoms & Phenotypes for Joubert Syndrome 26

Human phenotypes related to Joubert Syndrome 26:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 cleft palate 31 very rare (1%) HP:0000175
3 cerebellar vermis hypoplasia 31 very rare (1%) HP:0001320
4 generalized hypotonia 31 very rare (1%) HP:0001290
5 cleft lip 31 very rare (1%) HP:0410030
6 frontal bossing 31 HP:0002007
7 ptosis 31 HP:0000508
8 nystagmus 31 HP:0000639
9 hypertelorism 31 HP:0000316
10 anteverted nares 31 HP:0000463
11 short stature 31 HP:0004322
12 recurrent upper respiratory tract infections 31 HP:0002788
13 micropenis 31 HP:0000054
14 panhypopituitarism 31 HP:0000871
15 central hypothyroidism 31 HP:0011787
16 decreased response to growth hormone stimuation test 31 HP:0000824

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
global developmental delay
cerebellar hypoplasia
hypoplasia/aplasia of the anterior pituitary (in some patients)

Head And Neck Mouth:
cleft lip (in some patients)
cleft palate (in some patients)

Growth Height:
short stature (in some patients)

Endocrine Features:
hypothyroidism (in some patients)
growth hormone deficiency (in some patients)
panhypopituitarism (in some patients)

Genitourinary External Genitalia Male:
small penis (in some patients)

Respiratory:
tachypnea, neonatal (in some patients)

Head And Neck Eyes:
nystagmus (in some patients)
hypertelorism (in some patients)
ptosis (in some patients)

Immunology:
recurrent infections (in some patients)

Head And Neck Nose:
anteverted nares (in some patients)

Muscle Soft Tissue:
hypotonia (in some patients)

Head And Neck Head:
frontal bossing (in some patients)

Clinical features from OMIM®:

616784 (Updated 05-Apr-2021)

Drugs & Therapeutics for Joubert Syndrome 26

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 26

Genetic Tests for Joubert Syndrome 26

Genetic tests related to Joubert Syndrome 26:

# Genetic test Affiliating Genes
1 Joubert Syndrome 26 29 KATNIP

Anatomical Context for Joubert Syndrome 26

MalaCards organs/tissues related to Joubert Syndrome 26:

40
Pituitary

Publications for Joubert Syndrome 26

Articles related to Joubert Syndrome 26:

# Title Authors PMID Year
1
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. 57 6
27245168 2016
2
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. 57 6
26714646 2015

Variations for Joubert Syndrome 26

ClinVar genetic disease variations for Joubert Syndrome 26:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KATNIP NM_015202.4(KATNIP):c.2674C>T (p.Gln892Ter) SNV Pathogenic 218948 rs864309712 GRCh37: 16:27760955-27760955
GRCh38: 16:27749634-27749634
2 KATNIP NM_015202.4(KATNIP):c.4420del (p.Met1474fs) Deletion Pathogenic 489396 rs1555497891 GRCh37: 16:27786376-27786376
GRCh38: 16:27775055-27775055
3 KATNIP NM_015202.5(KATNIP):c.16_17del (p.Leu6fs) Microsatellite Pathogenic 1027952 GRCh37: 16:27585228-27585229
GRCh38: 16:27573907-27573908
4 KATNIP NM_015202.5(KATNIP):c.1730G>A (p.Trp577Ter) SNV Pathogenic 941890 GRCh37: 16:27733003-27733003
GRCh38: 16:27721682-27721682
5 KATNIP NM_015202.5(KATNIP):c.922C>T (p.Gln308Ter) SNV Pathogenic 1027953 GRCh37: 16:27692833-27692833
GRCh38: 16:27681512-27681512
6 KATNIP NM_015202.4(KATNIP):c.4711A>G (p.Ser1571Gly) SNV Likely pathogenic 828109 rs138866758 GRCh37: 16:27789090-27789090
GRCh38: 16:27777769-27777769
7 KATNIP NM_015202.4(KATNIP):c.49C>T (p.Arg17Ter) SNV Likely pathogenic 828110 rs142375551 GRCh37: 16:27585263-27585263
GRCh38: 16:27573942-27573942
8 KATNIP NM_015202.5(KATNIP):c.1672C>T (p.Arg558Ter) SNV Likely pathogenic 917945 GRCh37: 16:27732945-27732945
GRCh38: 16:27721624-27721624

Expression for Joubert Syndrome 26

Search GEO for disease gene expression data for Joubert Syndrome 26.

Pathways for Joubert Syndrome 26

GO Terms for Joubert Syndrome 26

Cellular components related to Joubert Syndrome 26 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.13 SAXO1 KIF7 KATNIP KATNB1 KATNAL1 CSPP1
2 cell projection GO:0042995 9.85 SAXO1 KIF7 KATNIP CEP41 CEP104
3 spindle GO:0005819 9.67 KATNB1 KATNAL1 CSPP1
4 cilium GO:0005929 9.67 SAXO1 KIF7 CEP41 CEP104
5 centrosome GO:0005813 9.65 KATNB1 KATNAL1 CSPP1 CEP97 CEP41
6 microtubule GO:0005874 9.62 KIF7 KATNB1 KATNAL1 CSPP1
7 ciliary basal body GO:0036064 9.61 SAXO1 KIF7 CEP41
8 cytoskeleton GO:0005856 9.61 SAXO1 KIF7 KATNIP KATNB1 KATNAL1 CSPP1
9 centriole GO:0005814 9.58 SAXO1 CEP41 CEP104
10 spindle pole GO:0000922 9.46 KATNB1 KATNAL1 CSPP1 CEP104
11 microtubule organizing center GO:0005815 9.17 SAXO1 KATNB1 KATNAL1 CSPP1 CEP97 CEP41

Biological processes related to Joubert Syndrome 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.33 NCAPD3 KATNB1 KATNAL1
2 ciliary basal body-plasma membrane docking GO:0097711 9.26 CEP97 CEP41
3 cell projection organization GO:0030030 9.13 SAXO1 CEP97 CEP41
4 microtubule severing GO:0051013 8.62 KATNB1 KATNAL1

Molecular functions related to Joubert Syndrome 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.92 SAXO1 KIF7 KATNB1 KATNAL1

Sources for Joubert Syndrome 26

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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