ORPHA:700154

TARDBP-related predominantly upper-limb distal myopathy

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	TARDBP-related predominantly upper-limb distal myopathy
fr	Myopathie distale prédominante des membres supérieurs associée à TARDBP
de	Spät-beginnende distale Myopathie, TARDBP-assoziierte
es	Miopatía distal predominantemente de miembros superiores asociada a TARDBP
it	Miopatia distale a predominanza negli arti superiori correlata a TARDBP
nl	TARDBP-gerelateerde distale myopathie van hoofdzakelijk bovenste ledematen
pt	TARDBP-related predominantly upper-limb distal myopathy
pl	TARDBP-related predominantly upper-limb distal myopathy
cs	TARDBP-related predominantly upper-limb distal myopathy

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	G71.0	NTBT	attributed	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 (1):

ORPHA:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TARDBP	Disease-causing germline mutation(s) in	Assessed	HGNC:11571	ENSG00000120948	605078	1p36.22	TAR DNA binding protein	38079474[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		20 cases	Worldwide	Case(s)	Validated	ORPHANET
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

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