Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCerebellar Diseases (D002526)
Parent Node:
expandGenetic Diseases, X-Linked (D040181)
Parent Node:
expandMuscle Hypotonia (D009123)
..Starting node
..expandJoubert Syndrome 10 (C567582)

       Child Nodes:



 Sister Nodes: 
..expandAllan-Herndon-Dudley syndrome (C537047)
..expandAtonic-Astatic Syndrome of Foerster (C565926)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandBirk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
..expandCarnitine Acetyltransferase Deficiency (C563249)
..expandCohen syndrome (C536438)
..expandCombined Oxidative Phosphorylation Deficiency 3 (C566467)
..expandCreases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
..expandDer Kaloustian Mcintosh Silver syndrome (C538217)
..expandEmanuel syndrome (C535733)
..expandEthanolaminosis (C562651)
..expandFumaric aciduria (C538191)
..expandGerman Syndrome (C562543)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
..expandHypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandHypotonia-Cystinuria Syndrome (C564710)
..expandJoubert Syndrome 10 (C567582)
..expandJoubert syndrome 3 (C536295)
..expandJoubert syndrome 5 (C537688)
..expandKetoadipicaciduria (C565453)
..expandMENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..expandMidface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..expandMiller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
..expandOpitz-Kaveggia syndrome (C537923)
..expandQazi Markouizos syndrome (C536259)
..expandRadioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..expandScalp ear nipple syndrome (C536623)
..expandThree M Syndrome 2 (C567862)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5981
Name:Joubert Syndrome 10
Definition:
Alternative IDs:OMIM:300804
ParentIDs:MESH:D002526|MESH:D009123|MESH:D040181
TreeNumbers:C10.228.140.252/C567582 |C10.597.613.575/C567582 |C16.320.322/C567582 |C23.888.592.608.575/C567582
Synonyms:JBTS10
Slim Mappings:Genetic disease (inborn)|Nervous system disease|Signs and symptoms
Reference: MedGen: C567582
MeSH: C567582
OMIM: 300804;

Genes: OFD1;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0001320Cerebellar vermis hypoplasia
3 HP:0002002Deep philtrum
4 HP:0000494Downslanted palpebral fissures
5 HP:0002280Enlarged cisterna magna
6 HP:0000286Epicanthus
7 HP:0008872Feeding difficulties in infancy
8 HP:0002007Frontal bossing
9 HP:0001263Global developmental delay
10 HP:0001510Growth delay
11 HP:0001007Hirsutism
12 HP:0001249Intellectual disability
13 HP:0002187Intellectual disability, profound
14 HP:0000369Low-set ears
15 HP:0000256Macrocephaly
16 HP:0002419Molar tooth sign on MRI
17 HP:0100259Postaxial polydactyly
18 HP:0002719Recurrent infections
19 HP:0000510Rod-cone dystrophy
20 HP:0012471Thick vermilion border
21 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_003611.2(OFD1):c.149A>G (p.His50Arg)8481OFD1Pathogenic863225213RCV000201618; NMedGen:C2749019,OMIM:300804X1375463413754634NM_003611.2:c.149A>GNP_003602.1:p.His50ArgNC_000023.10:g.13754634A>G-C2749019 300804 Joubert syndrome 10
NM_003611.2(OFD1):c.277G>T (p.Val93Phe)8481OFD1Pathogenic863225211RCV000201699; NMedGen:C2749019,OMIM:300804X1375476213754762NM_003611.2:c.277G>TNP_003602.1:p.Val93PheNC_000023.10:g.13754762G>T-C2749019 300804 Joubert syndrome 10
NM_003611.2(OFD1):c.688_705del18 (p.Ile230_Lys235del)8481OFD1Pathogenic398122866RCV000029157; NMedGen:C2749019,OMIM:300804X1376493213764949NM_003611.2:c.688_705del18NP_003602.1:p.Ile230_Lys235delNC_000023.10:g.13764932_13764949del18OMIM Allelic Variant:300170.0010C2749019 300804 Joubert syndrome 10
NM_003611.2(OFD1):c.1654+8A>G8481OFD1Uncertain significance200767363RCV000146979; NMedGen:C2749019,OMIM:300804X1377657513776575NM_003611.2:c.1654+8A>GNC_000023.10:g.13776575A>G-C2749019 300804 Joubert syndrome 10
NM_003611.2(OFD1):c.2668C>T (p.Arg890Ter)8481OFD1Pathogenic863225212RCV000201562; NMedGen:C2749019,OMIM:300804X1378531413785314NM_003611.2:c.2668C>TNP_003602.1:p.Arg890TerNC_000023.10:g.13785314C>T-C2749019 300804 Joubert syndrome 10
NM_003611.2(OFD1):c.2767delG (p.Glu923Lysfs)8481OFD1Pathogenic312262894RCV000034004; RCV000012301; NMedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:C2749019,OMIM:300804X1378618213786182NM_003611.2:c.2767delGNP_003602.1:p.Glu923LysfsNC_000023.10:g.13786182delGOMIM Allelic Variant:300170.0009C2749019 300804 Joubert syndrome 10; C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.2841_2847delAAAAGAC (p.Lys948Asnfs)8481OFD1Pathogenic312262895RCV000034005; RCV000012300; NMedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:C2749019,OMIM:300804X1378625613786262NM_003611.2:c.2841_2847delAAAAGACNP_003602.1:p.Lys948AsnfsNC_000023.10:g.13786256_13786262delAAAAGACOMIM Allelic Variant:300170.0008C2749019 300804 Joubert syndrome 10; C1510460 311200 Oral-facial-digital syndrome