ORPHA:1766

Dysequilibrium syndrome

Synonyms: CAMRQ syndrome · Cerebellar ataxia-intellectual disability-dysequilibrium syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome · UTS · Uner Tan syndrome

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Neonatal
Status: active

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Dysequilibrium syndrome	CAMRQ syndrome · Cerebellar ataxia-intellectual disability-dysequilibrium syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome · UTS · Uner Tan syndrome
fr	Syndrome dysequilibrium	Syndrome Uner Tan · Syndrome d'ataxie cérébelleuse non progressive-déficience intellectuelle · UTS
de	Dysäquilibrium-Syndrom	CAMRQ-Syndrom · Nicht-progressive zerebelläre Ataxie mit Intelligenzminderung · UTS · Uner Tan-Syndrom · Zerebelläre Ataxie-Intelligenzminderung-Dysäquilibriumsyndrom-Syndrom
es	Síndrome de desequilibrio	Síndrome CAMRQ · Síndrome de Uner Tan · Síndrome de ataxia cerebelosa no progresiva-discapacidad intelectual · Síndrome de ataxia cerebelosa-discapacidad intelectual-desequilibrio
it	Sindrome da disequilibrio	Sindrome Uner Tan · Atassia cerebellare non progressiva - deficit cognitivo · Sindrome CAMRQ · Sindrome atassia cerebellare-deficit cognitivo-disequilibrio · Sindrome da atassia cerebellare non progressiva- deficit cognitivo · UTS
nl	Disequilibriumsyndroom	CAMRQ-syndroom · Cerebellaire ataxie - intellectuele achterstand - disequilibriumsyndroom-syndroom · Niet-progressieve cerebellaire ataxie - intellectuele achterstand-syndroom · Onevenwichtigheidsyndroom · Syndroom van Uner Tan · UTS
pt	Síndrome de desequilíbrio	Sindrome de ataxia cerebelosa-perturbação do desenvolvimento intelectual-desequilibrio · Síndrome CAMRQ · Síndrome Uner Tan · Síndrome de ataxia cerebelosa não-progressiva-perturbação do desenvolvimento intelectual · UTS
pl	Zespół niewyrównania	Ataksja móżdżkowa niepostępująca - niepełnosprawność intelektualna · Zespół ataksja móżdżkowa - niepełnosprawność intelektualna - zaburzenia równowagi · Zespół CAMRQ
cs	Dysequilibrium syndrom	CAMRQ syndrom · Syndrom zahrnující mozečkovou ataxii, mentální retardaci a syndrom nerovnováhy · Syndrom zahrnující neprogresivní mozečkovou ataxii a mentální retardaci
uk	Дизеквілібріум синдром	Синдром CAMRQ · Синдром мозочкової атаксії - інтелектуальної недостатності - дисбалансу · Синдром непрогресуючої мозочкової атаксії-інтелектуальної недостатності · Синдром Унера Тана · UTS
zh	平衡感觉紊乱综合征	小脑共济失调-智力障碍-平衡感觉紊乱综合征
tr	Dengesizlik sendromu	UTS · CAMRQ sendromu · Üner Tan sendromu · ilerleyici olmayan serebellar ataksi-zihinsel yetersizlik sendromu · Serebellar ataksi-zihinsel yetersizlik-dengesizlik sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	224050	E		validated
OMIM	610185	BTNT		validated
OMIM	613227	BTNT		validated
OMIM	615268	BTNT		validated
ICD-10	G11.8	NTBT	attributed	validated
MONDO	0009133	E		validated
MeSH	C535731	E		validated
UMLS	C0394006	E		validated
GARD	1998	E		validated
MedDRA	10013140	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:98006Rare neurologic disease

Parents in the classifications (2):

ORPHA:98095Autosomal recessive congenital cerebellar ataxia
rare genetic diseases; rare neurological diseases
ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases

No children.

Genes

5 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ATP8A2	Disease-causing germline mutation(s) in	Assessed	HGNC:13533	ENSG00000132932	605870	13q12.13	ATPase phospholipid transporting 8A2	22892528[PMID]
CA8	Disease-causing germline mutation(s) in	Assessed	HGNC:1382	ENSG00000178538	114815	8q12.1	carbonic anhydrase 8 (inactive)	21812104[PMID]
TUBB2B	Disease-causing germline mutation(s) in	Assessed	HGNC:30829	ENSG00000137285	612850	6p25.2	tubulin beta 2B class IIb	28013290[PMID]
VLDLR	Disease-causing germline mutation(s) in	Assessed	HGNC:12698	ENSG00000147852	192977	9p24.2	very low density lipoprotein receptor	21885617[PMID]
WDR81	Disease-causing germline mutation(s) in	Assessed	HGNC:26600	ENSG00000167716	614218	17p13.3	WD repeat domain 81	21885617[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_22973972[PMID]_21885617[PMID]_19461874[PMID]_22892528[PMID]
Cases/families		51 cases	Worldwide	Case(s)	Validated	Dr Kym Boycott[EXPERT]_22973972[PMID]_21885617[PMID]_19461874[PMID]_22892528[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

14 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001251	Ataxia
HP:0001288	Gait disturbance
HP:0001347	Hyperreflexia
HP:0001252	Hypotonia
HP:0001249	Intellectual disability
Frequent (79-30%)
HP:0100022	Abnormality of movement
HP:0100021	Cerebral palsy
HP:0001250	Seizure
HP:0004322	Short stature
HP:0003202	Skeletal muscle atrophy
HP:0000486	Strabismus
Occasional (29-5%)
HP:0000478	Abnormality of the eye
HP:0000504	Abnormality of vision
HP:0000518	Cataract

Run the differential on the 5 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/1766
This record as JSON: /data/d/1766.json