MCID: JBR024
MIFTS: 24

Joubert Syndrome 14

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

Aliases & Classifications for Joubert Syndrome 14

MalaCards integrated aliases for Joubert Syndrome 14:

Name: Joubert Syndrome 14 57 12 75 29 13 6 73
Jbts14 57 12 75
Joubert Syndrome, Type 14 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death often occurs in the first decade


HPO:

32
joubert syndrome 14:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 14

UniProtKB/Swiss-Prot : 75 Joubert syndrome 14: An autosomal recessive disorder characterized by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. 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 renal disease, abnormal eye movements, and postaxial polydactyly.

MalaCards based summary : Joubert Syndrome 14, is also known as jbts14, and has symptoms including ataxia An important gene associated with Joubert Syndrome 14 is TMEM237 (Transmembrane Protein 237). Affiliated tissues include eye and brain, and related phenotypes are renal cyst and open mouth

Disease Ontology : 12 A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has material basis in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33.

OMIM : 57 Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (614424)

Symptoms & Phenotypes for Joubert Syndrome 14

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
malar flattening
short philtrum

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Neurologic Behavioral Psychiatric Manifestations:
irritability

Skeletal Hands:
postaxial polydactyly

Genitourinary Kidneys:
renal cysts

Head And Neck Head:
tall forehead

Respiratory:
abnormal breathing pattern

Head And Neck Eyes:
hypertelorism
ptosis
nystagmus
strabismus
microphthalmia
more
Neurologic Central Nervous System:
hydrocephalus
ataxia
dandy-walker malformation
encephalocele
hypotonia
more
Head And Neck Mouth:
open mouth
tented upper lip

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
high nasal bridge

Growth Other:
poor growth

Cardiovascular Vascular:
hypertension (variable)


Clinical features from OMIM:

614424

Human phenotypes related to Joubert Syndrome 14:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 renal cyst 32 HP:0000107
2 open mouth 32 HP:0000194
3 hydrocephalus 32 HP:0000238
4 malar flattening 32 HP:0000272
5 epicanthus 32 HP:0000286
6 hypertelorism 32 HP:0000316
7 short philtrum 32 HP:0000322
8 high forehead 32 HP:0000348
9 posteriorly rotated ears 32 HP:0000358
10 low-set ears 32 HP:0000369
11 prominent nasal bridge 32 HP:0000426
12 strabismus 32 HP:0000486
13 deeply set eye 32 HP:0000490
14 downslanted palpebral fissures 32 HP:0000494
15 ptosis 32 HP:0000508
16 microphthalmia 32 HP:0000568
17 coloboma 32 HP:0000589
18 nystagmus 32 HP:0000639
19 irritability 32 HP:0000737
20 hypertension 32 frequent (33%) HP:0000822
21 ataxia 32 HP:0001251
22 global developmental delay 32 HP:0001263
23 generalized hypotonia 32 HP:0001290
24 dandy-walker malformation 32 HP:0001305
25 growth delay 32 HP:0001510
26 encephalocele 32 HP:0002084
27 highly arched eyebrow 32 HP:0002553
28 tented upper lip vermilion 32 HP:0010804
29 intellectual disability, severe 32 HP:0010864
30 morning glory anomaly 32 HP:0025514
31 postaxial polydactyly 32 HP:0100259

UMLS symptoms related to Joubert Syndrome 14:


ataxia

Drugs & Therapeutics for Joubert Syndrome 14

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 14

Genetic Tests for Joubert Syndrome 14

Genetic tests related to Joubert Syndrome 14:

# Genetic test Affiliating Genes
1 Joubert Syndrome 14 29 TMEM237

Anatomical Context for Joubert Syndrome 14

MalaCards organs/tissues related to Joubert Syndrome 14:

41
Eye, Brain

Publications for Joubert Syndrome 14

Variations for Joubert Syndrome 14

ClinVar genetic disease variations for Joubert Syndrome 14:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM237 NM_001044385.2(TMEM237): c.1066dupC (p.Gln356Profs) duplication Pathogenic rs751952525 GRCh38 Chromosome 2, 201626119: 201626119
2 TMEM237 NM_001044385.2(TMEM237): c.76C> T (p.Gln26Ter) single nucleotide variant Pathogenic rs387907131 GRCh37 Chromosome 2, 202504987: 202504987
3 TMEM237 NM_001044385.2(TMEM237): c.76C> T (p.Gln26Ter) single nucleotide variant Pathogenic rs387907131 GRCh38 Chromosome 2, 201640264: 201640264
4 TMEM237 NM_001044385.2(TMEM237): c.52C> T (p.Arg18Ter) single nucleotide variant Pathogenic rs199469707 GRCh37 Chromosome 2, 202505638: 202505638
5 TMEM237 NM_001044385.2(TMEM237): c.52C> T (p.Arg18Ter) single nucleotide variant Pathogenic rs199469707 GRCh38 Chromosome 2, 201640915: 201640915
6 TMEM237 NM_001044385.2(TMEM237): c.677+1G> T single nucleotide variant Pathogenic rs793888505 GRCh37 Chromosome 2, 202494451: 202494451
7 TMEM237 NM_001044385.2(TMEM237): c.677+1G> T single nucleotide variant Pathogenic rs793888505 GRCh38 Chromosome 2, 201629728: 201629728
8 TMEM237 NM_001044385.2(TMEM237): c.1066dupC (p.Gln356Profs) duplication Pathogenic rs751952525 GRCh37 Chromosome 2, 202490842: 202490842
9 TMEM237 NM_001044385.2(TMEM237): c.943+1G> T single nucleotide variant Pathogenic rs748510210 GRCh37 Chromosome 2, 202492798: 202492798
10 TMEM237 NM_001044385.2(TMEM237): c.943+1G> T single nucleotide variant Pathogenic rs748510210 GRCh38 Chromosome 2, 201628075: 201628075
11 TMEM237 NM_001044385.2(TMEM237): c.348G> A (p.Ala116=) single nucleotide variant Likely benign rs191125006 GRCh37 Chromosome 2, 202498081: 202498081
12 TMEM237 NM_001044385.2(TMEM237): c.348G> A (p.Ala116=) single nucleotide variant Likely benign rs191125006 GRCh38 Chromosome 2, 201633358: 201633358
13 TMEM237 NM_001044385.2(TMEM237): c.1065C> G (p.Leu355=) single nucleotide variant Conflicting interpretations of pathogenicity rs149240122 GRCh38 Chromosome 2, 201626120: 201626120
14 TMEM237 NM_001044385.2(TMEM237): c.1065C> G (p.Leu355=) single nucleotide variant Conflicting interpretations of pathogenicity rs149240122 GRCh37 Chromosome 2, 202490843: 202490843
15 TMEM237 NM_001044385.2(TMEM237): c.554-2_554-1insT insertion Uncertain significance rs1085307098 GRCh37 Chromosome 2, 202494576: 202494577
16 TMEM237 NM_001044385.2(TMEM237): c.554-2_554-1insT insertion Uncertain significance rs1085307098 GRCh38 Chromosome 2, 201629853: 201629854
17 TMEM237 NM_001044385.2(TMEM237): c.634T> C (p.Trp212Arg) single nucleotide variant Uncertain significance rs200467447 GRCh38 Chromosome 2, 201629772: 201629772
18 TMEM237 NM_001044385.2(TMEM237): c.634T> C (p.Trp212Arg) single nucleotide variant Uncertain significance rs200467447 GRCh37 Chromosome 2, 202494495: 202494495

Expression for Joubert Syndrome 14

Search GEO for disease gene expression data for Joubert Syndrome 14.

Pathways for Joubert Syndrome 14

GO Terms for Joubert Syndrome 14

Sources for Joubert Syndrome 14

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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