ORPHA:475

Isolated Joubert syndrome

Synonyms: CPD IV · Cerebelloparenchymal disorder IV · Classic Joubert syndrome · Joubert syndrome type A · Joubert-Boltshauser syndrome · Pure Joubert syndrome

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Autosomal recessive
Age of onset: Antenatal
Status: active

A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Isolated Joubert syndrome	CPD IV · Cerebelloparenchymal disorder IV · Classic Joubert syndrome · Joubert syndrome type A · Joubert-Boltshauser syndrome · Pure Joubert syndrome
fr	Syndrome de Joubert isolé	Syndrome de Joubert classique · Syndrome de Joubert pur · Syndrome de Joubert type A · Syndrome de Joubert-Boltshauser
de	Joubert-Syndrom, isoliertes	CPD IV · JBTS · Joubert-Boltshauser-Syndrom · Joubert-Syndrom Typ A · Joubert-Syndrom, reines · Klassisches Joubert-Syndrom · Zerebello-parenchymale Krankheit IV
es	Síndrome de Joubert aislado	CPD IV · Síndrome de Joubert clásico · Síndrome de Joubert puro · Síndrome de Joubert tipo A · Síndrome de Joubert-Boltshauser · Trastorno cerebeloparenquimatoso IV
it	Sindrome di Joubert	CPD IV · Disturbo cerebelloparenchimale IV · Sindrome di Joubert classica · Sindrome di Joubert pura · Sindrome di Joubert, tipo A · Sindrome di Joubert-Boltshauser
nl	Geïsoleerd syndroom van Joubert	CPD IV · Cerebelloparenchymale aandoening IV · Klassiek syndroom van Joubert · Syndroom van Joubert type A · Syndroom van Joubert-Boltshauser · Zuiver syndroom van Joubert
pt	Síndrome Joubert isolado	CPD IV · Doença cerebeloparenquimatosa IV · Síndrome Joubert clássico · Síndrome Joubert puro · Síndrome Joubert tipo A · Síndrome Joubert-Boltshauser
pl	Zespół Joubert	Cerebelloparenchymal disorder IV · CPD IV · Czysty zespół Joubert · Klasyczny zespół Joubert · Zespół Joubert i Boltshausera · Zespół Joubert typu A
cs	Joubertův syndrom	CPD IV · Cerebeloparenchymatózní porucha IV · Klasický Joubertův syndrom · Joubertův syndrom, typ A · Joubertův-Bolthauserův syndrom · Čistý Joubertův syndrom · Joubert-Bolthauserův syndrom
uk	Синдром Жубера	Церебелопаренхіматозний розлад IV · Класичний синдром Жубера · CPD IV · Синдром Жубера, тип А · Синдром Жубера-Больцгаузера · Чистий синдром Жубера
zh	Joubert综合征	小脑实质障碍症IV型
tr	Joubert sendromu	CPD IV · Saf Joubert sendromu · Joubert sendromu tip A · Klasik Joubert sendromu · Joubert-Boltshauser sendromu · Serebelloparenkimal bozukluk IV

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	213300	E		validated
OMIM	300804	BTNT		validated
OMIM	608091	BTNT		validated
OMIM	608629	BTNT		validated
OMIM	609583	BTNT		validated
OMIM	610188	BTNT		validated
OMIM	610688	BTNT		validated
OMIM	611560	BTNT		validated
OMIM	612285	BTNT		validated
OMIM	612291	BTNT		validated
OMIM	614173	BTNT		validated
OMIM	614424	BTNT		validated
OMIM	614464	BTNT		validated
OMIM	614465	BTNT		validated
OMIM	614615	BTNT		validated
OMIM	614815	BTNT		validated
OMIM	614970	BTNT		validated
OMIM	615636	BTNT		validated
OMIM	615665	BTNT		validated
OMIM	616490	BTNT		validated
OMIM	616654	BTNT		validated
OMIM	616781	BTNT		validated
OMIM	616784	BTNT		validated
OMIM	617120	BTNT		validated
OMIM	617121	BTNT		validated
OMIM	617622	BTNT		validated
OMIM	617757	BTNT		validated
OMIM	617761	BTNT		validated
OMIM	617767	BTNT		validated
OMIM	618161	BTNT		validated
OMIM	618763	BTNT		validated
OMIM	619185	BTNT		validated
OMIM	619476	BTNT		validated
OMIM	619562	BTNT		validated
OMIM	619582	BTNT		validated
ICD-10	Q04.3	NTBT	attributed	validated
ICD-11	LD20.00	E	specific	validated
MONDO	0018772	E		validated
UMLS	C0431399	E		validated
GARD	6802	E		validated
MedDRA	10078574	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 (3):

ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases
ORPHA:140874Joubert syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases

No children.

Genes

30 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CBY1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:1307	ENSG00000100211	607757	22q13.1	chibby 1, beta catenin antagonist	33131181[PMID]
CEP41	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12370	ENSG00000106477	610523	7q32.2	centrosomal protein 41	22246503[PMID]
CSPP1	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]
KATNIP	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:29068	ENSG00000047578	616650	16p12.1	katanin interacting protein	26714646[PMID]
TMEM218	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:27344	ENSG00000150433	619285	11q24.2	transmembrane protein 218	33791682[PMID]
AHI1	Disease-causing germline mutation(s) in	Assessed	HGNC:21575	ENSG00000135541	608894	6q23.3	Abelson helper integration site 1	22693042[PMID]
ARL13B	Disease-causing germline mutation(s) in	Assessed	HGNC:25419	ENSG00000169379	608922	3q11.1-q11.2	ARF like GTPase 13B	18674751[PMID]_20301500[PMID]
ARL3	Disease-causing germline mutation(s) in	Assessed	HGNC:694	ENSG00000138175	604695	10q24.32	ARF like GTPase 3	30269812[PMID]
ARMC9	Disease-causing germline mutation(s) in	Assessed	HGNC:20730	ENSG00000135931	617612	2q37.1	armadillo repeat containing 9	28625504[PMID]
B9D1	Disease-causing germline mutation(s) in	Assessed	HGNC:24123	ENSG00000108641	614144	17p11.2	B9 domain containing 1	24886560[PMID]
B9D2	Disease-causing germline mutation(s) in	Assessed	HGNC:28636	ENSG00000123810	611951	19q13.2	B9 domain containing 2	26092869[PMID]
CEP104	Disease-causing germline mutation(s) in	Assessed	HGNC:24866	ENSG00000116198	616690	1p36.32	centrosomal protein 104	26477546[PMID]
CEP120	Disease-causing germline mutation(s) in	Assessed	HGNC:26690	ENSG00000168944	613446	5q23.2	centrosomal protein 120	27208211[PMID]
CPLANE1	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]
HYLS1	Disease-causing germline mutation(s) in	Assessed	HGNC:26558	ENSG00000198331	610693	11q24.2	HYLS1 centriolar and ciliogenesis associated	26830932[PMID]
IFT74	Disease-causing germline mutation(s) in	Assessed	HGNC:21424	ENSG00000096872	608040	9p21.2	intraflagellar transport 74	33531668[PMID]
INPP5E	Disease-causing germline mutation(s) in	Assessed	HGNC:21474	ENSG00000148384	613037	9q34.3	inositol polyphosphate-5-phosphatase E	19668216[PMID]
KIAA0586	Disease-causing germline mutation(s) in	Assessed	HGNC:19960	ENSG00000100578	610178	14q23.1	KIAA0586	26096313[PMID]
KIAA0753	Disease-causing germline mutation(s) in	Assessed	HGNC:29110	ENSG00000198920	617112	17p13.1	KIAA0753	28220259[PMID]
MKS1	Disease-causing germline mutation(s) in	Assessed	HGNC:7121	ENSG00000011143	609883	17q22	MKS transition zone complex subunit 1	24886560[PMID]
OFD1	Disease-causing germline mutation(s) in	Assessed	HGNC:2567	ENSG00000046651	300170	Xp22.2	OFD1 centriole and centriolar satellite protein	19800048[PMID]
PDE6D	Disease-causing germline mutation(s) in	Assessed	HGNC:8788	ENSG00000156973	602676	2q37.1	phosphodiesterase 6D	24166846[PMID]
PIBF1	Disease-causing germline mutation(s) in	Assessed	HGNC:23352	ENSG00000083535	607532	13q21.33-q22.1	progesterone immunomodulatory binding factor 1	26167768[PMID]
SUFU	Disease-causing germline mutation(s) in	Assessed	HGNC:16466	ENSG00000107882	607035	10q24.32	SUFU negative regulator of hedgehog signaling	33024317[PMID]
TCTN1	Disease-causing germline mutation(s) in	Assessed	HGNC:26113	ENSG00000204852	609863	12q24.11	tectonic family member 1	21725307[PMID]_20301500[PMID]
TCTN2	Disease-causing germline mutation(s) in	Assessed	HGNC:25774	ENSG00000168778	613846	12q24.31	tectonic family member 2	21565611[PMID]
TCTN3	Disease-causing germline mutation(s) in	Assessed	HGNC:24519	ENSG00000119977	613847	10q24.1	tectonic family member 3	22883145[PMID]
TMEM237	Disease-causing germline mutation(s) in	Assessed	HGNC:14432	ENSG00000155755	614423	2q33.1	transmembrane protein 237	22693042[PMID]_22152675[PMID]
TMEM67	Disease-causing germline mutation(s) in	Assessed	HGNC:28396	ENSG00000164953	609884	8q22.1	transmembrane protein 67	17160906[PMID]
TOGARAM1	Disease-causing germline mutation(s) in	Assessed	HGNC:19959	ENSG00000198718	617618	14q21.2	TOG array regulator of axonemal microtubules 1	32453716[PMID]

Prevalence and incidence

4 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 1 000 000	0.47 / 100 000	Italy	Value and class	Validated	31969461[PMID]
Prevalence at birth	1-9 / 100 000	1.6666 / 100 000	Worldwide	Value and class	Validated	35860112[PMID]
Point prevalence	Unknown	—	Worldwide	Class only	Validated	35860112[PMID]_ORPHANET
Prevalence at birth	1-9 / 100 000	5 / 100 000	Spain	Value and class	Validated	34308544[PMID]

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

37 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0002793	Abnormal pattern of respiration
HP:0002104	Apnea
HP:0001251	Ataxia
HP:0001320	Cerebellar vermis hypoplasia
HP:0002876	Episodic tachypnea
HP:0001263	Global developmental delay
HP:0001252	Hypotonia
HP:0001249	Intellectual disability
HP:0000657	Oculomotor apraxia
Frequent (79-30%)
HP:0004422	Biparietal narrowing
HP:0008872	Feeding difficulties in infancy
HP:0001288	Gait disturbance
HP:0000276	Long face
HP:0000639	Nystagmus
Occasional (29-5%)
HP:0030680	Abnormal cardiovascular system morphology
HP:0003312	Abnormal form of the vertebral bodies
HP:0002269	Abnormality of neuronal migration
HP:0000864	Abnormality of the hypothalamus-pituitary axis
HP:0002251	Aganglionic megacolon
HP:0000463	Anteverted nares
HP:0007370	Aplasia/Hypoplasia of the corpus callosum
HP:0002084	Encephalocele
HP:0001829	Foot polydactyly
HP:0001161	Hand polydactyly
HP:0002553	Highly arched eyebrow
HP:0000238	Hydrocephalus
HP:0000612	Iris coloboma
HP:0000369	Low-set ears
HP:0000202	Orofacial cleft
HP:0002126	Polymicrogyria
HP:0000426	Prominent nasal bridge
HP:0000508	Ptosis
HP:0002650	Scoliosis
HP:0001250	Seizure
HP:0001696	Situs inversus totalis
HP:0000486	Strabismus
HP:0001337	Tremor

Run the differential on the 9 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/475
This record as JSON: /data/d/475.json