ORPHA:140874

Joubert syndrome

Synonyms: JS

Type: Malformation syndrome
Group: Disorder
Inheritance: Autosomal recessive, X-linked recessive
Age of onset: Infancy, Neonatal
Status: active

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Joubert syndrome	JS
fr	Syndrome de Joubert	SJ
de	Joubert-Syndrom	= en
es	Síndrome de Joubert	SJ
it	Sindrome di Joubert	= en
nl	Syndroom van Joubert	= en
pt	Síndrome Joubert e doenças relacionadas
pl	Zespół Joubert i zaburzeń pokrewnych	JSRD
cs	Joubertův syndrom a příbuzné nemoci	JSRD
uk	Синдром Жубера та повязані з ним розлади	JSRD
zh	Joubert综合征及相关障碍	JSRD
tr	Joubert sendromu ve ilgili bozukluklar	JSRD

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
MONDO	0015369	E	validated
MONDO	15369	E	validated
UMLS	C5679612	E	validated
GARD	19931	E	validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (5):

ORPHA:98095Autosomal recessive congenital cerebellar ataxia
rare genetic diseases; rare neurological diseases
ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases
ORPHA:519341Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare ophthalmic disorders
ORPHA:522506Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare genetic diseases
ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases

Children (7):

Genes

0 direct · 61 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CBY1	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:1307	ENSG00000100211	607757	22q13.1	chibby 1, beta catenin antagonist	33131181[PMID]
CEP41	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12370	ENSG00000106477	610523	7q32.2	centrosomal protein 41	22246503[PMID]
CEP41	ORPHA:220493Joubert syndrome with ocular anomaly	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12370	ENSG00000106477	610523	7q32.2	centrosomal protein 41	20301500[PMID]_22246503[PMID]
CSPP1	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:26193	ENSG00000104218	611654	8q13.1-q13.2	centrosome and spindle pole associated protein 1	24360808[PMID]_24360803[PMID]
CSPP1	ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:26193	ENSG00000104218	611654	8q13.1-q13.2	centrosome and spindle pole associated protein 1	24360808[PMID]
KATNIP	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:29068	ENSG00000047578	616650	16p12.1	katanin interacting protein	26714646[PMID]
KIAA0586	ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:19960	ENSG00000100578	610178	14q23.1	KIAA0586	26386044[PMID]
PDE6D	ORPHA:2754Orofaciodigital syndrome type 6	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:8788	ENSG00000156973	602676	2q37.1	phosphodiesterase 6D	24166846[PMID]
TMEM138	ORPHA:2318Joubert syndrome with oculorenal defect	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:26944	ENSG00000149483	614459	11q12.2	transmembrane protein 138	22282472[PMID]
TMEM218	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:27344	ENSG00000150433	619285	11q24.2	transmembrane protein 218	33791682[PMID]
AHI1	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:21575	ENSG00000135541	608894	6q23.3	Abelson helper integration site 1	22693042[PMID]
AHI1	ORPHA:220493Joubert syndrome with ocular anomaly	Disease-causing germline mutation(s) in	Assessed	HGNC:21575	ENSG00000135541	608894	6q23.3	Abelson helper integration site 1	20615230[PMID]_20301500[PMID]
ARL13B	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:25419	ENSG00000169379	608922	3q11.1-q11.2	ARF like GTPase 13B	18674751[PMID]_20301500[PMID]
ARL3	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:694	ENSG00000138175	604695	10q24.32	ARF like GTPase 3	30269812[PMID]
ARMC9	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:20730	ENSG00000135931	617612	2q37.1	armadillo repeat containing 9	28625504[PMID]
B9D1	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:24123	ENSG00000108641	614144	17p11.2	B9 domain containing 1	24886560[PMID]
B9D2	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:28636	ENSG00000123810	611951	19q13.2	B9 domain containing 2	26092869[PMID]
CC2D2A	ORPHA:1454Joubert syndrome with hepatic defect	Disease-causing germline mutation(s) in	Assessed	HGNC:29253	ENSG00000048342	612013	4p15.32	coiled-coil and C2 domain containing 2A	19574260[PMID]_20301500[PMID]
CC2D2A	ORPHA:2318Joubert syndrome with oculorenal defect	Disease-causing germline mutation(s) in	Assessed	HGNC:29253	ENSG00000048342	612013	4p15.32	coiled-coil and C2 domain containing 2A	20301500[PMID]
CEP104	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:24866	ENSG00000116198	616690	1p36.32	centrosomal protein 104	26477546[PMID]
CEP120	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:26690	ENSG00000168944	613446	5q23.2	centrosomal protein 120	27208211[PMID]
CEP120	ORPHA:220493Joubert syndrome with ocular anomaly	Disease-causing germline mutation(s) in	Assessed	HGNC:26690	ENSG00000168944	613446	5q23.2	centrosomal protein 120	27208211[PMID]
CEP290	ORPHA:2318Joubert syndrome with oculorenal defect	Disease-causing germline mutation(s) in	Assessed	HGNC:29021	ENSG00000198707	610142	12q21.32	centrosomal protein 290	20615230[PMID]_20301500[PMID]
CPLANE1	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:25801	ENSG00000197603	614571	5p13.2	ciliogenesis and planar polarity effector complex subunit 1	22425360[PMID]_22693042[PMID]
CPLANE1	ORPHA:2754Orofaciodigital syndrome type 6	Disease-causing germline mutation(s) in	Assessed	HGNC:25801	ENSG00000197603	614571	5p13.2	ciliogenesis and planar polarity effector complex subunit 1	24178751[PMID]
FAM149B1	ORPHA:2754Orofaciodigital syndrome type 6	Disease-causing germline mutation(s) in	Assessed	HGNC:29162	ENSG00000138286	618413	10q22.2	family with sequence similarity 149 member B1	30905400[PMID]
HYLS1	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:26558	ENSG00000198331	610693	11q24.2	HYLS1 centriolar and ciliogenesis associated	26830932[PMID]
IFT74	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:21424	ENSG00000096872	608040	9p21.2	intraflagellar transport 74	33531668[PMID]
INPP5E	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:21474	ENSG00000148384	613037	9q34.3	inositol polyphosphate-5-phosphatase E	19668216[PMID]
INPP5E	ORPHA:1454Joubert syndrome with hepatic defect	Disease-causing germline mutation(s) in	Assessed	HGNC:21474	ENSG00000148384	613037	9q34.3	inositol polyphosphate-5-phosphatase E	20301500[PMID]_19668216[PMID]
INPP5E	ORPHA:220493Joubert syndrome with ocular anomaly	Disease-causing germline mutation(s) in	Assessed	HGNC:21474	ENSG00000148384	613037	9q34.3	inositol polyphosphate-5-phosphatase E	23386033[PMID]_19668216[PMID]_20301500[PMID]
KIAA0586	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:19960	ENSG00000100578	610178	14q23.1	KIAA0586	26096313[PMID]
KIAA0753	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:29110	ENSG00000198920	617112	17p13.1	KIAA0753	28220259[PMID]
KIAA0753	ORPHA:2754Orofaciodigital syndrome type 6	Disease-causing germline mutation(s) in	Assessed	HGNC:29110	ENSG00000198920	617112	17p13.1	KIAA0753	26643951[PMID]
KIF7	ORPHA:2754Orofaciodigital syndrome type 6	Disease-causing germline mutation(s) in	Assessed	HGNC:30497	ENSG00000166813	611254	15q26.1	kinesin family member 7	20301500[PMID]_21633164[PMID]
MKS1	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:7121	ENSG00000011143	609883	17q22	MKS transition zone complex subunit 1	24886560[PMID]
MKS1	ORPHA:220493Joubert syndrome with ocular anomaly	Disease-causing germline mutation(s) in	Assessed	HGNC:7121	ENSG00000011143	609883	17q22	MKS transition zone complex subunit 1	24886560[PMID]
NPHP1	ORPHA:220497Joubert syndrome with renal defect	Disease-causing germline mutation(s) in	Assessed	HGNC:7905	ENSG00000144061	607100	2q13	nephrocystin 1	20615230[PMID]_20301500[PMID]
OFD1	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:2567	ENSG00000046651	300170	Xp22.2	OFD1 centriole and centriolar satellite protein	19800048[PMID]
OFD1	ORPHA:2754Orofaciodigital syndrome type 6	Disease-causing germline mutation(s) in	Assessed	HGNC:2567	ENSG00000046651	300170	Xp22.2	OFD1 centriole and centriolar satellite protein	20301500[PMID]
PDE6D	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:8788	ENSG00000156973	602676	2q37.1	phosphodiesterase 6D	24166846[PMID]
PIBF1	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:23352	ENSG00000083535	607532	13q21.33-q22.1	progesterone immunomodulatory binding factor 1	26167768[PMID]
RPGRIP1L	ORPHA:1454Joubert syndrome with hepatic defect	Disease-causing germline mutation(s) in	Assessed	HGNC:29168	ENSG00000103494	610937	16q12.2	RPGRIP1 like	19574260[PMID]_20301500[PMID]
RPGRIP1L	ORPHA:220497Joubert syndrome with renal defect	Disease-causing germline mutation(s) in	Assessed	HGNC:29168	ENSG00000103494	610937	16q12.2	RPGRIP1 like	20615230[PMID]_20301500[PMID]
SUFU	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:16466	ENSG00000107882	607035	10q24.32	SUFU negative regulator of hedgehog signaling	33024317[PMID]
TCTN1	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:26113	ENSG00000204852	609863	12q24.11	tectonic family member 1	21725307[PMID]_20301500[PMID]
TCTN2	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:25774	ENSG00000168778	613846	12q24.31	tectonic family member 2	21565611[PMID]
TCTN3	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:24519	ENSG00000119977	613847	10q24.1	tectonic family member 3	22883145[PMID]
TCTN3	ORPHA:2754Orofaciodigital syndrome type 6	Disease-causing germline mutation(s) in	Assessed	HGNC:24519	ENSG00000119977	613847	10q24.1	tectonic family member 3	22883145[PMID]_20301500[PMID]
TMEM216	ORPHA:2318Joubert syndrome with oculorenal defect	Disease-causing germline mutation(s) in	Assessed	HGNC:25018	ENSG00000187049	613277	11q13.1	transmembrane protein 216	20301500[PMID]
TMEM216	ORPHA:2754Orofaciodigital syndrome type 6	Disease-causing germline mutation(s) in	Assessed	HGNC:25018	ENSG00000187049	613277	11q13.1	transmembrane protein 216	20615230[PMID]_20301500[PMID]
TMEM231	ORPHA:2318Joubert syndrome with oculorenal defect	Disease-causing germline mutation(s) in	Assessed	HGNC:37234	ENSG00000205084	614949	16q23.1	transmembrane protein 231	20301500[PMID]_23012439[PMID]
TMEM231	ORPHA:2754Orofaciodigital syndrome type 6	Disease-causing germline mutation(s) in	Assessed	HGNC:37234	ENSG00000205084	614949	16q23.1	transmembrane protein 231	26982032[PMID]
TMEM237	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:14432	ENSG00000155755	614423	2q33.1	transmembrane protein 237	22693042[PMID]_22152675[PMID]
TMEM237	ORPHA:2318Joubert syndrome with oculorenal defect	Disease-causing germline mutation(s) in	Assessed	HGNC:14432	ENSG00000155755	614423	2q33.1	transmembrane protein 237	20301500[PMID]_22152675[PMID]
TMEM237	ORPHA:220497Joubert syndrome with renal defect	Disease-causing germline mutation(s) in	Assessed	HGNC:14432	ENSG00000155755	614423	2q33.1	transmembrane protein 237	20301500[PMID]_22152675[PMID]
TMEM67	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:28396	ENSG00000164953	609884	8q22.1	transmembrane protein 67	17160906[PMID]
TMEM67	ORPHA:1454Joubert syndrome with hepatic defect	Disease-causing germline mutation(s) in	Assessed	HGNC:28396	ENSG00000164953	609884	8q22.1	transmembrane protein 67	19574260[PMID]_17160906[PMID]_20615230[PMID]_20301500[PMID]
TOGARAM1	ORPHA:475Isolated Joubert syndrome	Disease-causing germline mutation(s) in	Assessed	HGNC:19959	ENSG00000198718	617618	14q21.2	TOG array regulator of axonemal microtubules 1	32453716[PMID]
TOPORS	ORPHA:2754Orofaciodigital syndrome type 6	Disease-causing germline mutation(s) in	Assessed	HGNC:21653	ENSG00000197579	609507	9p21.1	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	34132027[PMID]
ZNF423	ORPHA:2318Joubert syndrome with oculorenal defect	Disease-causing germline mutation(s) in	Assessed	HGNC:16762	ENSG00000102935	604557	16q12.1	zinc finger protein 423	22863007[PMID]

Prevalence and incidence

5 records

Type	Class	Value	Area	Qualification	Validation	Source
Prevalence at birth	1-9 / 100 000	1.1 / 100 000	Worldwide	Value and class	Validated	18054307[PMID]_17377524[PMID]_20301500[PMID]_20615230[PMID]_[EXPERT]
Prevalence at birth	1-9 / 100 000	1 / 100 000	United States	Value and class	Validated	20615230[PMID]
Prevalence at birth	1-9 / 100 000	1 / 100 000	Netherlands	Value and class	Validated	18054307[PMID]
Point prevalence	>1 / 1000	666.67 / 100 000	North America	Value and class	Validated	22152675[PMID]
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/140874
This record as JSON: /data/d/140874.json