ORPHA:447896

Tremor-ataxia-central hypomyelination syndrome

Synonyms: TACH syndrome

This disease is described under 4H leukodystrophy

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Tremor-ataxia-central hypomyelination syndrome	TACH syndrome
fr	Syndrome de tremblement-ataxie-hypomyélinisation centrale	Syndrome TACH
de	Tremor-Ataxie-zentrale Hypomyelinisierung-Syndrom	TACH
es	Síndrome de temblor-ataxia-hipomielinización central	TACH
it	Sindrome tremore-atassia-ipomielinizzazione centrale	TACH
nl	Tremor - ataxie - centrale hypomyelinisatie-syndroom	TACH
pt	Síndrome de tremor ataxia hipomielinização central
pl	Zespół drżenia, ataksji i hipomielinizacji ośrodkowej	TACH
cs	Syndrom zahrnující tremor, ataxii a centrální hypomyelinizaci	TACH syndrom
uk	Синдром тремору-атаксії-центральної гіпомієлінізації	Синдром тахікардії
zh	震颤性共济失调伴中枢性髓鞘发育落后综合征	TACH综合征
tr	Tremor-ataksi-santral hipomiyelinasyon sendromu	TACH sendromu

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	607694	NTBT		validated
ICD-10	E75.2	NTBT	attributed	validated
MONDO	0018656	E		validated
UMLS	C5680067	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (3):

ORPHA:2894944H leukodystrophy
rare genetic diseases; rare neurological diseases
ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases
ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
POLR3A	Disease-causing germline mutation(s) in	Assessed	HGNC:30074	ENSG00000148606	614258	10q22.3	RNA polymerase III subunit A	20640464[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		7 cases	Worldwide	Case(s)	Validated	20640464[PMID]_22384513[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_20640464[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.

41 annotations · validated 2018-05-02

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0002134	Abnormal basal ganglia morphology
HP:0000617	Abnormality of ocular smooth pursuit
HP:0001251	Ataxia
HP:0005341	Autonomic bladder dysfunction
HP:0003487	Babinski sign
HP:0003429	CNS hypomyelination
HP:0001321	Cerebellar hypoplasia
HP:0002312	Clumsiness
HP:0000684	Delayed eruption of teeth
HP:0000823	Delayed puberty
HP:0002376	Developmental regression
HP:0001310	Dysmetria
HP:0002015	Dysphagia
HP:0001332	Dystonia
HP:0001263	Global developmental delay
HP:0025460	High myoinositol in brain by MRS
HP:0001347	Hyperreflexia
HP:0000668	Hypodontia
HP:0000044	Hypogonadotropic hypogonadism
HP:0002079	Hypoplasia of the corpus callosum
HP:0001256	Intellectual disability, mild
HP:0002080	Intention tremor
HP:0002415	Leukodystrophy
HP:0000545	Myopia
HP:0000639	Nystagmus
HP:0000677	Oligodontia
HP:0002403	Positive Romberg sign
HP:0002174	Postural tremor
HP:0004322	Short stature
HP:0002464	Spastic dysarthria
HP:0001257	Spasticity
HP:0002493	Upper motor neuron dysfunction
HP:0000511	Vertical supranuclear gaze palsy
Occasional (29-5%)
HP:0002120	Cerebral cortical atrophy
HP:0002307	Drooling
HP:0006858	Impaired distal proprioception
HP:0002166	Impaired vibration sensation in the lower limbs
HP:0000648	Optic atrophy
HP:0009830	Peripheral neuropathy
Very rare (<4-1%)
HP:0000490	Deeply set eye
HP:0007359	Focal-onset seizure

Annotation source: 20640464[PMID]_17159124[PMID]_22036171[PMID]_17712733[PMID]_15851747[PMID]_12605447[PMID]