MCID: JBR016
MIFTS: 22

Joubert Syndrome 10

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

Aliases & Classifications for Joubert Syndrome 10

MalaCards integrated aliases for Joubert Syndrome 10:

Name: Joubert Syndrome 10 57 12 75 29 13 6 73
Jbts10 57 12 75
Joubert Syndrome, Type 10 40

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
variable dysmorphic features may be present


HPO:

32
joubert syndrome 10:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Joubert Syndrome 10

UniProtKB/Swiss-Prot : 75 Joubert syndrome 10: 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 and renal disease.

MalaCards based summary : Joubert Syndrome 10, is also known as jbts10. An important gene associated with Joubert Syndrome 10 is OFD1 (OFD1, Centriole And Centriolar Satellite Protein). Related phenotypes are macrocephaly and low-set ears

OMIM : 57 Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (300804)

Disease Ontology : 12 A Joubert syndrome that has material basis in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2.

Symptoms & Phenotypes for Joubert Syndrome 10

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Head And Neck Face:
frontal bossing
prominent philtrum

Skin Nails Hair Hair:
hirsutism

Head And Neck Nose:
broad nasal bridge

Head And Neck Mouth:
full lips
prominent maxillary arch

Genitourinary Kidneys:
increased echogenicity
cystic renal disease

Head And Neck Ears:
low-set ears

Immunology:
recurrent infections

Neurologic Central Nervous System:
enlarged cisterna magna
mental retardation, profound
delayed psychomotor development
hypoplasia of the cerebellar vermis
molar tooth sign
more
Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
retinitis pigmentosa, juvenile onset (in some patients)

Abdomen Gastrointestinal:
poor feeding in infancy

Skeletal Hands:
postaxial polydactyly (in some patients)


Clinical features from OMIM:

300804

Human phenotypes related to Joubert Syndrome 10:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 low-set ears 32 HP:0000369
3 frontal bossing 32 HP:0002007
4 intellectual disability 32 HP:0001249
5 global developmental delay 32 HP:0001263
6 wide nasal bridge 32 HP:0000431
7 thick vermilion border 32 HP:0012471
8 feeding difficulties in infancy 32 HP:0008872
9 epicanthus 32 HP:0000286
10 growth delay 32 HP:0001510
11 downslanted palpebral fissures 32 HP:0000494
12 recurrent infections 32 HP:0002719
13 deep philtrum 32 HP:0002002
14 intellectual disability, profound 32 HP:0002187
15 rod-cone dystrophy 32 HP:0000510
16 cerebellar vermis hypoplasia 32 HP:0001320
17 molar tooth sign on mri 32 HP:0002419
18 hirsutism 32 HP:0001007
19 enlarged cisterna magna 32 HP:0002280
20 postaxial polydactyly 32 HP:0100259

Drugs & Therapeutics for Joubert Syndrome 10

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 10

Genetic Tests for Joubert Syndrome 10

Genetic tests related to Joubert Syndrome 10:

# Genetic test Affiliating Genes
1 Joubert Syndrome 10 29 OFD1

Anatomical Context for Joubert Syndrome 10

Publications for Joubert Syndrome 10

Variations for Joubert Syndrome 10

ClinVar genetic disease variations for Joubert Syndrome 10:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 OFD1 NM_003611.2(OFD1): c.2841_2847delAAAAGAC (p.Lys948Asnfs) deletion Pathogenic rs312262895 GRCh37 Chromosome X, 13786256: 13786262
2 OFD1 NM_003611.2(OFD1): c.2841_2847delAAAAGAC (p.Lys948Asnfs) deletion Pathogenic rs312262895 GRCh38 Chromosome X, 13768137: 13768143
3 OFD1 NM_003611.2(OFD1): c.2767delG (p.Glu923Lysfs) deletion Pathogenic rs312262894 GRCh37 Chromosome X, 13786182: 13786182
4 OFD1 NM_003611.2(OFD1): c.2767delG (p.Glu923Lysfs) deletion Pathogenic rs312262894 GRCh38 Chromosome X, 13768063: 13768063
5 OFD1 NM_003611.2(OFD1): c.688_705del18 (p.Ile230_Lys235del) deletion Pathogenic rs398122866 GRCh37 Chromosome X, 13764932: 13764949
6 OFD1 NM_003611.2(OFD1): c.688_705del18 (p.Ile230_Lys235del) deletion Pathogenic rs398122866 GRCh38 Chromosome X, 13746813: 13746830
7 OFD1 NM_003611.2(OFD1): c.400_403delGAAA (p.Glu134Ilefs) deletion Pathogenic rs312262830 GRCh37 Chromosome X, 13757139: 13757142
8 OFD1 NM_003611.2(OFD1): c.400_403delGAAA (p.Glu134Ilefs) deletion Pathogenic rs312262830 GRCh38 Chromosome X, 13739020: 13739023
9 OFD1 NM_003611.2(OFD1): c.149A> G (p.His50Arg) single nucleotide variant Pathogenic rs863225213 GRCh37 Chromosome X, 13754634: 13754634
10 OFD1 NM_003611.2(OFD1): c.149A> G (p.His50Arg) single nucleotide variant Pathogenic rs863225213 GRCh38 Chromosome X, 13736515: 13736515
11 OFD1 NM_003611.2(OFD1): c.277G> T (p.Val93Phe) single nucleotide variant Pathogenic rs863225211 GRCh37 Chromosome X, 13754762: 13754762
12 OFD1 NM_003611.2(OFD1): c.277G> T (p.Val93Phe) single nucleotide variant Pathogenic rs863225211 GRCh38 Chromosome X, 13736643: 13736643
13 OFD1 NM_003611.2(OFD1): c.2668C> T (p.Arg890Ter) single nucleotide variant Pathogenic rs863225212 GRCh37 Chromosome X, 13785314: 13785314
14 OFD1 NM_003611.2(OFD1): c.2668C> T (p.Arg890Ter) single nucleotide variant Pathogenic rs863225212 GRCh38 Chromosome X, 13767195: 13767195

Expression for Joubert Syndrome 10

Search GEO for disease gene expression data for Joubert Syndrome 10.

Pathways for Joubert Syndrome 10

GO Terms for Joubert Syndrome 10

Sources for Joubert Syndrome 10

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