ORPHA:98905

Congenital multicore myopathy with external ophthalmoplegia

This disease is described under Multiminicore myopathy

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Congenital multicore myopathy with external ophthalmoplegia
fr	Myopathie à multi-minicores avec ophtalmoplégie externe
de	Minicore-Myopathie mit externer Ophtalmoplegie
es	Miopatía congénita multicore con oftalmoplejía externa
it	Miopatia multicore congenita con oftalmoplegia esterna
nl	Congenitale meerkernige myopathie met externe oftalmoplegie
pt	Miopatia multicore com oftalmoplegia externa, congénita
pl	Wrodzona miopatia multicore z oftalmoplegią zewnętrzną
cs	Vrozená mnohojaderná myopatie s vnější oftalmoplegií
uk	Вроджена багатокамерна міопатія із зовнішньою офтальмоплегією
zh	先天性多轴空肌病伴眼外肌麻痹
tr	Eksternal oftalmopleji ile seyreden doğumsal çok çekirdekli miyopati

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	255320	E		validated
ICD-10	G71.2	NTBT	attributed	validated
ICD-11	8C72.0Y	NTBT	attributed	validated
MONDO	0009712	E		validated
MeSH	C564969	E		validated
UMLS	C1850674	E		validated
GARD	10316	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 (2):

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
RYR1	Disease-causing germline mutation(s) in	Assessed	HGNC:10483	ENSG00000196218	180901	19q13.2	ryanodine receptor 1	20301467[PMID]_12719381[PMID]_16380615[PMID]

0 records

No prevalence record in this release.

44 annotations · validated 2018-06-05

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0002795	Abnormal respiratory system physiology
HP:0011805	Abnormal skeletal muscle morphology
HP:0003327	Axial muscle weakness
HP:0001558	Decreased fetal movement
HP:0000544	External ophthalmoplegia
HP:0010628	Facial palsy
HP:0011968	Feeding difficulties
HP:0001290	Generalized hypotonia
HP:0009025	Increased connective tissue
HP:0003557	Increased variability in muscle fiber diameter
HP:0031237	Internally nucleated skeletal muscle fibers
HP:0001270	Motor delay
HP:0100293	Muscle fiber hypertrophy
HP:0001324	Muscle weakness
HP:0003560	Muscular dystrophy
HP:0002058	Myopathic facies
HP:0003701	Proximal muscle weakness
HP:0011807	Type 1 muscle fiber atrophy
HP:0003803	Type 1 muscle fiber predominance
Occasional (29-5%)
HP:0000028	Cryptorchidism
HP:0009046	Difficulty running
HP:0000969	Edema
HP:0001349	Facial diplegia
HP:0001371	Flexion contracture
HP:0031139	Frog-leg posture
HP:0000218	High palate
HP:0001382	Joint hypermobility
HP:0000054	Micropenis
HP:0000275	Narrow face
HP:0003798	Nemaline bodies
HP:0002090	Pneumonia
HP:0001561	Polyhydramnios
HP:0000508	Ptosis
HP:0040191	Rectus femoris muscle atrophy
HP:0002205	Recurrent respiratory infections
HP:0002878	Respiratory failure
HP:0002650	Scoliosis
HP:0008850	Severe postnatal growth retardation
HP:0003547	Shoulder girdle muscle weakness
HP:0003202	Skeletal muscle atrophy
HP:0000046	Small scrotum
HP:0012036	Sternocleidomastoid amyotrophy
HP:0010804	Tented upper lip vermilion
HP:0011399	Tibialis atrophy

Annotation source: 7299413[PMID]_9932958[PMID]_16380615[PMID]_18253926[PMID]_19734047[PMID]_20839240[PMID]_22407809[PMID]