Mitochondrial myopathy with diabetes

Summary

Mitochondrial myopathy with diabetes (MONDO:0010773) is a disease. A subtype of inborn mitochondrial myopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 32

Clinical features

Signs & symptoms

Clinical features (HPO)

32 HPO clinical features (Orphanet curated; top 32 by frequency):

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

Identifiers

Disease identifiers

Field	Value
Canonical name	mitochondrial myopathy with diabetes
Mondo ID	MONDO:0010773
MeSH	C564026
OMIM	500002
Orphanet	2596
UMLS	C1839028
MedGen	333236
GARD	0003881
Is cancer (heuristic)	no

Also known as: mitochondrial myopathy with diabetes · mitochondrial myopathy, lipid type · myopathy and diabetes mellitus

Disease family

This is a subtype of inborn mitochondrial myopathy. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › muscle tissue disorder › skeletal muscle disorder › myopathy › congenital myopathy › congenital structural myopathy › inborn mitochondrial myopathy › mitochondrial myopathy with diabetes

Related subtypes (23): myopathy, lactic acidosis, and sideroblastic anemia, mitochondrial encephalomyopathy, progressive external ophthalmoplegia, mitochondrial myopathy with a defect in mitochondrial-protein transport, Barth syndrome, mitochondrial myopathy with reversible cytochrome C oxidase deficiency, lethal infantile mitochondrial myopathy, sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, mitochondrial trifunctional protein deficiency, adenosine monophosphate deaminase deficiency, congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, autosomal dominant mitochondrial myopathy with exercise intolerance, fatal infantile encephalocardiomyopathy, mitochondrial myopathy-lactic acidosis-deafness syndrome, mitochondrial neurogastrointestinal encephalomyopathy, adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, maternally-inherited progressive external ophthalmoplegia, mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, mitochondrial complex II deficiency, nuclear type, mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, X-linked recessive mitochondrial myopathy, mitochondrial complex I deficiency, nuclear type 1, COX deficiency, benign infantile mitochondrial myopathy

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.