MCID: JBR038
MIFTS: 18

Joubert Syndrome 27

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

Aliases & Classifications for Joubert Syndrome 27

MalaCards integrated aliases for Joubert Syndrome 27:

Name: Joubert Syndrome 27 57 12 75 29 6
Jbts27 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated children have been reported (last curated september 2016)


HPO:

32
joubert syndrome 27:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 27

UniProtKB/Swiss-Prot : 75 Joubert syndrome 27: 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. JBTS27 inheritance is autosomal recessive.

MalaCards based summary : Joubert Syndrome 27, is also known as jbts27. An important gene associated with Joubert Syndrome 27 is B9D1 (B9 Domain Containing 1). Affiliated tissues include liver, and related phenotypes are nystagmus and oculomotor apraxia

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11.

Description from OMIM: 617120

Symptoms & Phenotypes for Joubert Syndrome 27

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
dysmorphic features (unspecified)

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
nystagmus
oculomotor apraxia

Neurologic Central Nervous System:
delayed development
intellectual disability (in 1 patient)
ataxia
molar tooth sign on mri


Clinical features from OMIM:

617120

Human phenotypes related to Joubert Syndrome 27:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 oculomotor apraxia 32 HP:0000657
3 intellectual disability 32 HP:0001249
4 ataxia 32 HP:0001251
5 global developmental delay 32 HP:0001263
6 generalized hypotonia 32 HP:0001290
7 molar tooth sign on mri 32 HP:0002419

Drugs & Therapeutics for Joubert Syndrome 27

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 27

Genetic Tests for Joubert Syndrome 27

Genetic tests related to Joubert Syndrome 27:

# Genetic test Affiliating Genes
1 Joubert Syndrome 27 29 B9D1

Anatomical Context for Joubert Syndrome 27

MalaCards organs/tissues related to Joubert Syndrome 27:

41
Liver

Publications for Joubert Syndrome 27

Variations for Joubert Syndrome 27

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 27:

75
# Symbol AA change Variation ID SNP ID
1 B9D1 p.Tyr32Cys VAR_076974 rs771170000
2 B9D1 p.Arg156Gln VAR_076975 rs886038205

ClinVar genetic disease variations for Joubert Syndrome 27:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 B9D1 NM_015681.4(B9D1): c.95A> G (p.Tyr32Cys) single nucleotide variant Pathogenic rs771170000 GRCh37 Chromosome 17, 19263670: 19263670
2 B9D1 NM_015681.4(B9D1): c.95A> G (p.Tyr32Cys) single nucleotide variant Pathogenic rs771170000 GRCh38 Chromosome 17, 19360357: 19360357
3 B9D1 NM_001243473.2(B9D1): c.526G> A (p.Gly176Arg) single nucleotide variant Pathogenic rs886038205 GRCh38 Chromosome 17, 19343795: 19343795
4 B9D1 NM_001243473.2(B9D1): c.526G> A (p.Gly176Arg) single nucleotide variant Pathogenic rs886038205 GRCh37 Chromosome 17, 19247108: 19247108
5 B9D1 NM_015681.4(B9D1): c.520_522delGTG (p.Val174del) deletion Pathogenic rs886038206 GRCh37 Chromosome 17, 19246725: 19246727
6 B9D1 NM_015681.4(B9D1): c.520_522delGTG (p.Val174del) deletion Pathogenic rs886038206 GRCh38 Chromosome 17, 19343412: 19343414

Expression for Joubert Syndrome 27

Search GEO for disease gene expression data for Joubert Syndrome 27.

Pathways for Joubert Syndrome 27

GO Terms for Joubert Syndrome 27

Sources for Joubert Syndrome 27

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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