JBTS10
MCID: JBR016
MIFTS: 42

Joubert Syndrome 10 (JBTS10)

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

Aliases & Classifications for Joubert Syndrome 10

MalaCards integrated aliases for Joubert Syndrome 10:

Name: Joubert Syndrome 10 57 12 72 29 13 6 44 15 70
Jbts10 57 12 72
Joubert Syndrome, Type 10 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

Miscellaneous:
variable dysmorphic features may be present


HPO:

31
joubert syndrome 10:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110981
OMIM® 57 300804
OMIM Phenotypic Series 57 PS213300
MedGen 41 C2749019
UMLS 70 C2749019

Summaries for Joubert Syndrome 10

UniProtKB/Swiss-Prot : 72 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, also known as jbts10, is related to coloboma of macula and joubert syndrome 1. An important gene associated with Joubert Syndrome 10 is OFD1 (OFD1 Centriole And Centriolar Satellite Protein), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Related phenotypes are macrocephaly and intellectual disability

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.

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) (Updated 05-Apr-2021)

Related Diseases for Joubert Syndrome 10

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 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 coloboma of macula 27.4 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1
2 joubert syndrome 1 27.0 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1
3 orofaciodigital syndrome iv 10.2 TMEM216 OFD1
4 simpson-golabi-behmel syndrome, type 2 10.1 OFD1 LCA5
5 meckel syndrome, type 7 10.1 TMEM216 CC2D2A
6 retinitis pigmentosa 28 10.1 OFD1 LCA5
7 encephalocele 10.1 TMEM67 CC2D2A
8 orofaciodigital syndrome 10.0 TMEM67 TMEM216 OFD1
9 polycystic kidney disease 2 with or without polycystic liver disease 10.0 TMEM67 ARL13B
10 chromosome 2q35 duplication syndrome 9.9
11 orofaciodigital syndrome i 9.9
12 physical disorder 9.9 TMEM67 OFD1 ARL13B
13 nephronophthisis 1 9.9 NPHP1 AHI1
14 oligohydramnios 9.9 TMEM67 CC2D2A
15 renal-hepatic-pancreatic dysplasia 9.8 OFD1 NPHP1
16 johanson-blizzard syndrome 9.8 TMEM216 RPGRIP1L CC2D2A
17 ciliopathy 9.7 TMEM67 RPGRIP1L CC2D2A
18 holoprosencephaly 9.7 TMEM216 TCTN2 ARL13B
19 oculomotor apraxia 9.7 NPHP1 AHI1
20 bardet-biedl syndrome 1 9.7 TMEM67 TMEM216 NPHP1
21 nephronophthisis 12 9.7 RPGRIP1L NPHP1
22 short-rib thoracic dysplasia 6 with or without polydactyly 9.7 TMEM67 TMEM216 TCTN2 OFD1
23 ellis-van creveld syndrome 9.7 TMEM216 RPGRIP1L OFD1 ARL13B
24 polydactyly 9.7 TMEM67 RPGRIP1L OFD1 CC2D2A
25 bardet-biedl syndrome 14 9.6 TMEM67 TMEM216 RPGRIP1L CC2D2A
26 joubert syndrome 15 9.6 RPGRIP1L NPHP1 CC2D2A
27 neural tube defects 9.5 TMEM67 TMEM216 RPGRIP1L CC2D2A
28 nephronophthisis 16 9.5 TMEM67 RPGRIP1L NPHP1
29 congenital hepatic fibrosis 9.5 TMEM67 RPGRIP1L CC2D2A AHI1
30 juvenile nephronophthisis 9.4 TMEM67 NPHP1 AHI1
31 cystic kidney disease 9.4 TMEM67 OFD1 NPHP1 CC2D2A ARL13B
32 usher syndrome 9.4 RPGRIP1L LCA5 AHI1
33 meckel syndrome, type 8 9.3 TMEM67 TMEM216 TCTN2 RPGRIP1L CC2D2A
34 acrocallosal syndrome 9.3 TMEM216 RPGRIP1L NPHP1 AHI1
35 cogan syndrome 9.3 RPGRIP1L NPHP1 CC2D2A AHI1
36 joubert syndrome 9 9.2 TMEM67 TMEM216 RPGRIP1L CC2D2A ARL13B AHI1
37 nephronophthisis 11 9.2 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A
38 apraxia 9.1 TMEM67 TCTN2 NPHP1 CC2D2A AHI1
39 nephronophthisis 9 9.1 TMEM67 TMEM216 RPGRIP1L NPHP1 AHI1
40 nephronophthisis 7 9.1 TMEM67 RPGRIP1L NPHP1 CC2D2A AHI1
41 nephronophthisis 14 9.1 TMEM67 TCTN2 RPGRIP1L NPHP1 CC2D2A
42 joubert syndrome 24 9.1 TCTN2 RPGRIP1L NPHP1 ARL13B AHI1
43 joubert syndrome 6 8.9 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A AHI1
44 polycystic kidney disease 1 with or without polycystic liver disease 8.9 TMEM67 RPGRIP1L OFD1 NPHP1 ARL13B AHI1
45 meckel syndrome, type 2 8.9 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP1 CC2D2A
46 nephronophthisis 19 8.9 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A AHI1
47 meckel syndrome, type 5 8.9 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP1 CC2D2A
48 spinocerebellar ataxia 29 8.9 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 CC2D2A
49 joubert syndrome 7 8.7 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A ARL13B
50 joubert syndrome 8 8.6 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 CC2D2A

Graphical network of the top 20 diseases related to Joubert Syndrome 10:



Diseases related to Joubert Syndrome 10

Symptoms & Phenotypes for Joubert Syndrome 10

Human phenotypes related to Joubert Syndrome 10:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 intellectual disability 31 HP:0001249
3 frontal bossing 31 HP:0002007
4 global developmental delay 31 HP:0001263
5 wide nasal bridge 31 HP:0000431
6 thick vermilion border 31 HP:0012471
7 feeding difficulties in infancy 31 HP:0008872
8 growth delay 31 HP:0001510
9 low-set ears 31 HP:0000369
10 epicanthus 31 HP:0000286
11 downslanted palpebral fissures 31 HP:0000494
12 deep philtrum 31 HP:0002002
13 rod-cone dystrophy 31 HP:0000510
14 recurrent infections 31 HP:0002719
15 intellectual disability, profound 31 HP:0002187
16 cerebellar vermis hypoplasia 31 HP:0001320
17 molar tooth sign on mri 31 HP:0002419
18 hirsutism 31 HP:0001007
19 enlarged cisterna magna 31 HP:0002280
20 postaxial polydactyly 31 HP:0100259

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly

Head And Neck Ears:
low-set ears

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 Face:
frontal bossing
prominent philtrum

Immunology:
recurrent infections

Neurologic Central Nervous System:
enlarged cisterna magna
delayed psychomotor development
hypoplasia of the cerebellar vermis
mental retardation, profound
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Joubert Syndrome 10:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 AHI1 ARL13B CC2D2A NPHP1 OFD1 RPGRIP1L
2 nervous system MP:0003631 9.81 AHI1 ARL13B CC2D2A LCA5 NPHP1 OFD1
3 craniofacial MP:0005382 9.8 CC2D2A OFD1 RPGRIP1L TCTN2 TMEM67
4 embryo MP:0005380 9.8 ARL13B CC2D2A OFD1 RPGRIP1L TCTN2 TMEM67
5 digestive/alimentary MP:0005381 9.77 CC2D2A OFD1 RPGRIP1L TCTN2 TMEM67
6 limbs/digits/tail MP:0005371 9.65 CC2D2A OFD1 RPGRIP1L TCTN2 TMEM67
7 renal/urinary system MP:0005367 9.5 AHI1 ARL13B CC2D2A NPHP1 OFD1 RPGRIP1L
8 vision/eye MP:0005391 9.17 AHI1 ARL13B CC2D2A LCA5 NPHP1 RPGRIP1L

Drugs & Therapeutics for Joubert Syndrome 10

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 10

Cochrane evidence based reviews: 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

Articles related to Joubert Syndrome 10:

(show all 13)
# Title Authors PMID Year
1
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. 57 6 61
22353940 2012
2
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 57 6
26092869 2015
3
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 57 6
19800048 2009
4
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. 6
24884629 2014
5
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 6
18546297 2008
6
A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation. 61
32944789 2021
7
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms. 61
31366608 2019
8
The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia. 61
31373179 2019
9
Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1. 61
30581852 2018
10
Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review. 61
28505061 2017
11
Abnormal glycosylation in Joubert syndrome type 10. 61
28344780 2017
12
Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients. 61
22548404 2013
13
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. 61
23033313 2013

Variations for Joubert Syndrome 10

ClinVar genetic disease variations for Joubert Syndrome 10:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OFD1 NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs) Deletion Pathogenic 11544 rs312262895 GRCh37: X:13786256-13786262
GRCh38: X:13768137-13768143
2 OFD1 NM_003611.3(OFD1):c.2767del (p.Glu923fs) Deletion Pathogenic 11545 rs312262894 GRCh37: X:13786182-13786182
GRCh38: X:13768063-13768063
3 OFD1 NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del) Deletion Pathogenic 35485 rs398122866 GRCh37: X:13764925-13764942
GRCh38: X:13746806-13746823
4 OFD1 NM_003611.3(OFD1):c.277G>T (p.Val93Phe) SNV Pathogenic 217685 rs863225211 GRCh37: X:13754762-13754762
GRCh38: X:13736643-13736643
5 OFD1 NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) SNV Pathogenic 217686 rs863225212 GRCh37: X:13785314-13785314
GRCh38: X:13767195-13767195
6 OFD1 NM_003611.3(OFD1):c.149A>G (p.His50Arg) SNV Pathogenic 217687 rs863225213 GRCh37: X:13754634-13754634
GRCh38: X:13736515-13736515
7 OFD1 NM_003611.3(OFD1):c.400_403del (p.Glu134fs) Deletion Pathogenic 41117 rs312262830 GRCh37: X:13757136-13757139
GRCh38: X:13739017-13739020
8 OFD1 NM_003611.3(OFD1):c.400_403del (p.Glu134fs) Deletion Pathogenic 41117 rs312262830 GRCh37: X:13757136-13757139
GRCh38: X:13739017-13739020
9 OFD1 NM_003611.3(OFD1):c.599T>C (p.Leu200Pro) SNV Pathogenic 978060 GRCh37: X:13764519-13764519
GRCh38: X:13746400-13746400
10 OFD1 NM_003611.3(OFD1):c.2387+1G>A SNV Likely pathogenic 976442 GRCh37: X:13779331-13779331
GRCh38: X:13761212-13761212
11 OFD1 NM_003611.3(OFD1):c.3G>A (p.Met1Ile) SNV Uncertain significance 1031340 GRCh37: X:13753193-13753193
GRCh38: X:13735074-13735074
12 OFD1 NM_003611.3(OFD1):c.324G>A (p.Met108Ile) SNV Uncertain significance 571289 rs763219658 GRCh37: X:13756976-13756976
GRCh38: X:13738857-13738857
13 OFD1 NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) SNV Uncertain significance 532267 rs778349684 GRCh37: X:13767609-13767609
GRCh38: X:13749490-13749490
14 OFD1 NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del) Deletion Uncertain significance 689774 rs1602826132 GRCh37: X:13764522-13764527
GRCh38: X:13746403-13746408
15 OFD1 NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys) SNV Likely benign 982582 GRCh37: X:13778755-13778755
GRCh38: X:13760636-13760636

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

Cellular components related to Joubert Syndrome 10 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.18 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1
2 cytoskeleton GO:0005856 9.97 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1
3 cell projection GO:0042995 9.85 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1
4 centrosome GO:0005813 9.8 TMEM67 RPGRIP1L OFD1 AHI1
5 cell-cell junction GO:0005911 9.69 RPGRIP1L NPHP1 AHI1
6 ciliary basal body GO:0036064 9.67 RPGRIP1L OFD1 LCA5 AHI1
7 motile cilium GO:0031514 9.65 OFD1 NPHP1 ARL13B
8 ciliary transition zone GO:0035869 9.65 TMEM67 TMEM216 TCTN2 RPGRIP1L CC2D2A
9 axoneme GO:0005930 9.63 RPGRIP1L LCA5 ARL13B
10 ciliary membrane GO:0060170 9.61 TMEM67 TCTN2 ARL13B
11 photoreceptor connecting cilium GO:0032391 9.58 RPGRIP1L NPHP1 LCA5
12 non-motile cilium GO:0097730 9.54 ARL13B AHI1
13 MKS complex GO:0036038 9.35 TMEM67 TMEM216 TCTN2 CC2D2A AHI1
14 cilium GO:0005929 9.28 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 LCA5

Biological processes related to Joubert Syndrome 10 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.7 TMEM67 TMEM216 TCTN2 OFD1 NPHP1 CC2D2A
2 non-motile cilium assembly GO:1905515 9.56 TMEM216 RPGRIP1L CC2D2A ARL13B
3 cilium assembly GO:0060271 9.56 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 CC2D2A
4 determination of left/right symmetry GO:0007368 9.54 RPGRIP1L CC2D2A ARL13B
5 smoothened signaling pathway GO:0007224 9.5 TCTN2 CC2D2A ARL13B
6 camera-type eye development GO:0043010 9.49 RPGRIP1L CC2D2A
7 heart looping GO:0001947 9.48 ARL13B AHI1
8 left/right axis specification GO:0070986 9.46 ARL13B AHI1
9 protein localization to ciliary transition zone GO:1904491 9.43 TCTN2 CC2D2A
10 neural tube patterning GO:0021532 9.4 RPGRIP1L ARL13B
11 ciliary basal body-plasma membrane docking GO:0097711 9.23 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1

Sources for Joubert Syndrome 10

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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