ORPHA:715623

Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome

Synonyms: Morimoto-Ryu-Malicdan neuromuscular syndrome

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome	Morimoto-Ryu-Malicdan neuromuscular syndrome
fr	Syndrome de trouble de la coordination-myopathie-insuffisance respiratoire-atrophie cérébelleuse progressive	Syndrome neuromusculaire Morimoto-Ruy-Malicdan
de	Motorische Inkoordination-Myopathie-Ateminsuffizienz-Progressive Kleinhirnatrophie-Syndrom	MRMNS · Morimoto-Ryu-Malicdan neuromuskuläres Syndrom
es	Síndrome de incoordinación motora-miopatía-insuficiencia respiratoria- atrofia cerebelosa progresiva	Síndrome neuromuscular de Morimoto-Ryu-Malicdan
it	Sindrome mancata coordinazione motoria-miopatia-insufficienza respiratoria-atrofia cerebellare progressiva	Sindrome neuromuscolare di Morimoto-Ryu-Malicdan
nl	Motorische incoördinatie - myopathie - respiratoire insufficiëntie - progressieve cerebellaire atrofie-syndroom	Neuromusculair syndroom van Morimoto-Ryu-Malicdan
pt	Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome
pl	Zespół z zaburzeniami koordynacji ruchowej, miopatią, niewydolnością oddechową i postępującym zanikiem móżdżku	= en
cs	Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	621010	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:98099Autosomal recessive syndromic cerebellar ataxia
rare genetic diseases; rare neurological diseases
ORPHA:207028Cerebellar ataxia with peripheral neuropathy
rare genetic diseases; rare neurological diseases
ORPHA:206656Non-dystrophic myopathy
rare genetic diseases; rare neurological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
RFC4	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:9972	ENSG00000163918	102577	3q27.3	replication factor C subunit 4	39106866[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		10 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.