ORPHA:2596

Myopathy and diabetes mellitus

Type: Disease
Group: Disorder
Inheritance: Mitochondrial inheritance
Age of onset: Adolescent, Adult, Childhood, Infancy, Neonatal
Status: active

A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Myopathy and diabetes mellitus
fr	Syndrome de myopathie-diabète sucré
de	Myopathie - Diabetes mellitus
es	Miopatía con diabetes mellitus
it	Miopatia e diabete mellito
nl	Myopathie en diabetes mellitus
pt	Miopatia e diabetes mellitus
pl	Miopatia i cukrzyca
cs	Myopatie a diabetes mellitus
uk	Міопатія та цукровий діабет
zh	肌病-糖尿病
tr	Miyopati ve diabetes mellitus

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	500002	E		validated
ICD-10	G71.3	NTBT	attributed	validated
ICD-11	8C73.Y	NTBT	index	validated
MONDO	0010773	E		validated
UMLS	C5191051	E		validated
GARD	3881	E		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 (4):

ORPHA:254788Mitochondrial DNA-related mitochondrial myopathy
rare inborn errors of metabolism; rare genetic diseases
ORPHA:206953Muscular lipidosis
rare genetic diseases; rare neurological diseases
ORPHA:181381Other rare diabetes mellitus
rare endocrine diseases
ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MT-TE	Disease-causing germline mutation(s) in	Assessed	HGNC:7479	ENSG00000210194	590025	mitochondria	mitochondrially encoded tRNA-Glu (GAA/G)	15048886[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

32 annotations · validated 2019-01-25

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0007126	Proximal amyotrophy
HP:0003756	Skeletal myopathy
HP:0100651	Type I diabetes mellitus
Frequent (79-30%)
HP:0003487	Babinski sign
HP:0003551	Difficulty climbing stairs
HP:0009046	Difficulty running
HP:0003546	Exercise intolerance
HP:0012391	Hyporeflexia of upper limbs
HP:0002540	Inability to walk
HP:0002395	Lower limb hyperreflexia
HP:0009073	Progressive proximal muscle weakness
HP:0003547	Shoulder girdle muscle weakness
Occasional (29-5%)
HP:0008944	Distal lower limb amyotrophy
HP:0001260	Dysarthria
HP:0002359	Frequent falls
HP:0002342	Intellectual disability, moderate
HP:0003326	Myalgia
HP:0003749	Pelvic girdle muscle weakness
HP:0003477	Peripheral axonal neuropathy
HP:0002073	Progressive cerebellar ataxia
HP:0002098	Respiratory distress
HP:0012036	Sternocleidomastoid amyotrophy
HP:0030051	Tip-toe gait
HP:0030319	Weakness of facial musculature
HP:0012507	Weakness of orbicularis oculi muscle
Very rare (<4-1%)
HP:0001771	Achilles tendon contracture
HP:0031258	Delirium
HP:0000726	Dementia
HP:0002495	Impaired vibratory sensation
HP:0001319	Neonatal hypotonia
HP:0100753	Schizophrenia
HP:0000407	Sensorineural hearing impairment

Run the differential on the 3 obligate / very frequent terms

Annotation source: 9212319[PMID]_15607216[PMID]_5463538[PMID]_7726154[PMID]_15048886[PMID]_6329761[PMID]_7229664[PMID]_4114165[PMID]_4716844[PMID]_7726155[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/2596
This record as JSON: /data/d/2596.json