ORPHA:716903

Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis

Synonyms: Autosomal recessive CMS due to defective synaptic vesicles exocytosis

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	Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis	Autosomal recessive CMS due to defective synaptic vesicles exocytosis
fr	Syndrome myasthénique congénital dû à un defaut d'exocytose des vésicules synaptiques autosomique récessif
de	Autosmal-rezessives kongenitales myasthenes Syndrom durch gestörte Exozytose der synaptischen Bläschen	Autosmal-rezessives CMS durch defekte Exozytose synaptischer Vesikel
es	Síndrome miasténico congénito autosómico recesivo por defectos en la exocitosis de las vesículas sinápticas	SMC autosómico recesivo por defectos en la exocitosis de las vesículas sinápticas
it	Sindrome miastenica congenita autosomica recessiva da difetto nell'esocitosi delle vescicole sinaptiche	SMC autosomiche recessive da difetti nell'esocitosi delle vescicole sinaptiche · CMS autosomica recessiva da difetto nell'esocitosi delle vescicole sinaptiche
nl	Autosomaal recessief congenitaal myastheen syndroom door defect van exocytose van synaptische vesikels	Autosomaal recessief CMS door defect in exocytose van synaptische vesikels · Autosomaal recessief CMS door defect van exocytose van synaptische vesikels
pt	Autosomal recessive congenital myasthenic syndromes due to defective synaptic vesicles exocytosis
pl	Wrodzone zespoły miasteniczne dziedziczone autosomalnie recesywnie z powodu wadliwej egzocytozy pęcherzyków synaptycznych	= en
cs	Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis	= en

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	616330	BTNT	validated
OMIM	618323	BTNT	validated
OMIM	619461	BTNT	validated
OMIM	621455	NTBT	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:716899Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders

No children.

Genes

6 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
SYT2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:11510	ENSG00000143858	600104	1q32.1	synaptotagmin 2	32776697[PMID]
LAMA5	Disease-causing germline mutation(s) in	Assessed	HGNC:6485	ENSG00000130702	601033	20q13.33	laminin subunit alpha 5	29377152[PMID]
RPH3A	Disease-causing germline mutation(s) in	Assessed	HGNC:17056	ENSG00000089169	612159	12q24.13	rabphilin 3A	29441694[PMID]
SNAP25	Disease-causing germline mutation(s) in	Assessed	HGNC:11132	ENSG00000132639	600322	20p12.2	synaptosome associated protein 25	25381298[PMID]_25792100[PMID]
UNC13A	Disease-causing germline mutation(s) in	Assessed	HGNC:23150	ENSG00000130477	609894	19p13.11	unc-13 homolog A	41125872[PMID]
VAMP1	Disease-causing germline mutation(s) in	Assessed	HGNC:12642	ENSG00000139190	185880	12p13.31	vesicle associated membrane protein 1	28253535[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/716903
This record as JSON: /data/d/716903.json