ORPHA:716816

Congenital myasthenic syndrome with primary acetylcholine receptor deficiency

Synonyms: CMS with primary AChR deficiency · CMS with primary acetylcholine receptor deficiency · Primary AChR deficiency · Primary acetylcholine receptor deficiency

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: Autosomal recessive
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Congenital myasthenic syndrome with primary acetylcholine receptor deficiency	CMS with primary AChR deficiency · CMS with primary acetylcholine receptor deficiency · Primary AChR deficiency · Primary acetylcholine receptor deficiency
fr	Syndrome myasthénique congénital avec déficit primaire en récepteur de l'acétylcholine	Déficit primaire en RACh · Déficit primaire en récepteur à l'acétylcholine
de	Kongenitales myasthenes Syndrom mit primärem Acetylcholinrezeptor-Mangel	CMS mit primärem AChR-Mangel · Kongenitales Myastheniesyndrom mit primärer Acetylcholinrezeptor-Defizienz · Primärer Acetylcholin-Rezeptor-Mangel · Primäres AChR-Defizit
es	Síndrome miasténico congénito con deficiencia primaria del receptor de acetilcolina	Deficiencia primaria de AChR · Deficiencia primaria del receptor de acetilcolina · SMC con deficiencia primaria de AChR · SMC con deficiencia primaria del receptor de acetilcolina
it	Sindrome miastenica congenita con deficit primario dei recettori dell'acetilcolina	CMS con deficit primario di AChR · Deficit primario del recettore dell'acetilcolina · CMS con deficit primario del recettore dell'acetilcolina · Deficit primario di AChR · SMC con deficit primitivo di AChR · SMC con deficit primitivo del recettore dell'acetilcolina · Deficit primitivo di AChR · Deficit primitivo del recettore dell'acetilcolina
nl	Congenitaal myastheen syndroom met primaire deficiëntie van acetylcholinereceptor	CMS met primaire AChR-deficiëntie · CMS met primaire deficiëntie van acetylcholinereceptor · Primaire AChR-deficiëntie · Primaire deficiëntie van acetylcholinereceptor
pt	Congenital myasthenic syndromes with primary acetylcholine receptor deficiency
pl	Wrodzone zespoły miasteniczne z pierwotnym niedoborem receptora acetylocholiny	= en
cs	Congenital myasthenic syndrome with primary acetylcholine receptor deficiency	= en

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	608931	BTNT	validated
OMIM	616314	BTNT	validated
OMIM	616323	BTNT	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 (1):

ORPHA:98913Postsynaptic congenital myasthenic syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders

No children.

Genes

4 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CHRNA1	Disease-causing germline mutation(s) in	Assessed	HGNC:1955	ENSG00000138435	100690	2q31.1	cholinergic receptor nicotinic alpha 1 subunit	36634413[PMID]
CHRNB1	Disease-causing germline mutation(s) in	Assessed	HGNC:1961	ENSG00000170175	100710	17p13.1	cholinergic receptor nicotinic beta 1 subunit	10562302[PMID]
CHRND	Disease-causing germline mutation(s) in	Assessed	HGNC:1965	ENSG00000135902	100720	2q37.1	cholinergic receptor nicotinic delta subunit	16916845[PMID]
CHRNE	Disease-causing germline mutation(s) in	Assessed	HGNC:1966	ENSG00000108556	100725	17p13.2	cholinergic receptor nicotinic epsilon subunit	10211467[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/716816
This record as JSON: /data/d/716816.json