MCID: JBR037
MIFTS: 23

Joubert Syndrome 26

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

Aliases & Classifications for Joubert Syndrome 26

MalaCards integrated aliases for Joubert Syndrome 26:

Name: Joubert Syndrome 26 57 12 75 29 6
Jbts26 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
joubert syndrome 26:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 26

UniProtKB/Swiss-Prot : 75 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, is also known as jbts26. An important gene associated with Joubert Syndrome 26 is KIAA0556 (KIAA0556). Affiliated tissues include pituitary and liver, and related phenotypes are micropenis 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 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)

Symptoms & Phenotypes for Joubert Syndrome 26

Symptoms via clinical synopsis from OMIM:

57
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)

Muscle Soft Tissue:
hypotonia (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)

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

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


Clinical features from OMIM:

616784

Human phenotypes related to Joubert Syndrome 26:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 micropenis 32 HP:0000054
2 cleft palate 32 occasional (7.5%) HP:0000175
3 hypertelorism 32 HP:0000316
4 anteverted nares 32 HP:0000463
5 ptosis 32 HP:0000508
6 nystagmus 32 HP:0000639
7 growth hormone deficiency 32 HP:0000824
8 panhypopituitarism 32 HP:0000871
9 global developmental delay 32 HP:0001263
10 generalized hypotonia 32 occasional (7.5%) HP:0001290
11 cerebellar hypoplasia 32 HP:0001321
12 frontal bossing 32 HP:0002007
13 recurrent upper respiratory tract infections 32 HP:0002788
14 short stature 32 HP:0004322
15 inferior vermis hypoplasia 32 HP:0007068
16 central hypothyroidism 32 HP:0011787
17 cleft lip 32 occasional (7.5%) HP:0410030

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 KIAA0556

Anatomical Context for Joubert Syndrome 26

MalaCards organs/tissues related to Joubert Syndrome 26:

41
Pituitary, Liver

Publications for Joubert Syndrome 26

Variations for Joubert Syndrome 26

ClinVar genetic disease variations for Joubert Syndrome 26:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIAA0556 NM_015202.3(KIAA0556): c.2674C> T (p.Gln892Ter) single nucleotide variant Likely pathogenic rs864309712 GRCh37 Chromosome 16, 27760955: 27760955
2 KIAA0556 NM_015202.3(KIAA0556): c.2674C> T (p.Gln892Ter) single nucleotide variant Likely pathogenic rs864309712 GRCh38 Chromosome 16, 27749634: 27749634
3 KIAA0556 NM_015202.3(KIAA0556): c.4420delA (p.Met1474Cysfs) deletion Pathogenic GRCh37 Chromosome 16, 27786376: 27786376
4 KIAA0556 NM_015202.3(KIAA0556): c.4420delA (p.Met1474Cysfs) deletion Pathogenic GRCh38 Chromosome 16, 27775055: 27775055

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

Sources for Joubert Syndrome 26

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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