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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Diabetes Mellitus (D003920)
Parent Node: Mitochondrial Myopathies (D017240)
..Starting node ..Mitochondrial Myopathy with Diabetes (C564026)
Child Nodes:
Sister Nodes:
..Combined Oxidative Phosphorylation Deficiency 3 (C566467)
..Mitochondrial cytopathy (C540770)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive (C567608)
..Mitochondrial Encephalomyopathies (D017237) 13
..Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport (C565376)
..Mitochondrial Myopathy with Diabetes (C564026)
..Mitochondrial myopathy with lactic acidosis (C537476)
..Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)
..Myopathy, Mitochondrial, Lethal Infantile (C564017)
..Neuropathy ataxia and retinis pigmentosa (C537396)
..Ophthalmoplegia, Chronic Progressive External (D017246) 7
..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7329

Name:

Mitochondrial Myopathy with Diabetes

Definition:

Alternative IDs:

ParentIDs:

MESH:D003920|MESH:D017240

TreeNumbers:

C05.651.460/C564026 |C10.668.491.500/C564026 |C18.452.394.750/C564026 |C18.452.660.560/C564026 |C19.246/C564026

Synonyms:

Mitochondrial Myopathy, Lipid Type

Slim Mappings:

Endocrine system disease|Metabolic disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C564026
MeSH: C564026
OMIM: 500002;

Genes:

Phenotypes

1	HP:0001251	Ataxia
2	HP:0008347	Decreased activity of mitochondrial complex IV
3	HP:0001260	Dysarthria
4	HP:0003236	Elevated circulating creatine kinase concentration
5	HP:0003458	EMG: myopathic abnormalities
6	HP:0010628	Facial palsy
7	HP:0001290	Generalized hypotonia
8	HP:0001265	Hyporeflexia
9	HP:0001252	Hypotonia
10	HP:0001427	Mitochondrial inheritance
11	HP:0003737	Mitochondrial myopathy
12	HP:0001270	Motor delay
13	HP:0003812	Phenotypic variability
14	HP:0007126	Proximal amyotrophy
15	HP:0003701	Proximal muscle weakness
16	HP:0003200	Ragged-red muscle fibers
17	HP:0005978	Type II diabetes mellitus
18	HP:0012507	Weakness of orbicularis oculi muscle

Disease Causing ClinVar Variants