Diabetes and deafness, maternally inherited

Preferred Label : Diabetes and deafness, maternally inherited;

Symbol : MIDD;

CISMeF acronym : MIDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Noninsulin-dependent diabetes mellitus with deafness; Diabetes mellitus, type II, with deafness; Ballinger-wallace syndrome; Diabetes-deafness syndrome, maternally transmitted; Niddm with deafness;

Description : Maternally inherited diabetes-deafness syndrome (MIDD) is a mitochondrial disorder characterized by onset of sensorineural hearing loss and diabetes in adulthood. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms (Ballinger et al., 1992; Reardon et al., 1992; Guillausseau et al., 2001). The association of diabetes and deafness is observed with Wolfram syndrome (see 222300), Rogers syndrome (249270), and Herrmann syndrome (172500), but all 3 of these disorders have other clinical manifestations.;

Inheritance : Mitochondrial;

Molecular basis : Caused by mutation in the mitochondrial tRNA-leucine 1 gene (MTTL1, 590050.0001); Caused by mutation in the mitochondrial tRNA-glutamic acid gene (MTTE, 590025.0001); Caused by mutation in the mitochondrial tRNA-lysine gene (MTTK, 590060.0005);

Laboratory abnormalities : Hyperglycemia;

Prefixed ID : #520000;

Details

Origin ID

520000;

UMLS CUI

C0342289;

Currated CISMeF NLP mapping
- Diabetes-deafness syndrome maternally transmitted (disorder) [SNOMED CT concept]
- Maternal Diabetes and Deafness Syndrome [NCIt concept]
- Maternally inherited diabetes and deafness [ICD-11 More detail]
- Maternally-inherited diabetes and deafness [ORDO Disease]
- Noninsulin-dependent diabetes mellitus with deafness [MeSH concept]
- diabetes deafness syndrome [Disease (Nov.)]
- noninsulin-dependent diabetes mellitus with deafness [MeSH Supplementary Concept]
HPO term(s)
- Bilateral sensorineural deafness [HPO term]
- Cardiomyopathy [HPO term]
- Constriction of peripheral visual field [HPO term]
- Dysarthria [HPO term]
- External ophthalmoplegia [HPO term]
- Hyperglycemia [HPO term]
- Mitochondrial inheritance [HPO term]
- Pigmentary retinopathy [HPO term]
- Ptosis [HPO term]
- Retinal degeneration [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Type II diabetes mellitus [HPO term]
- Unsteady gait [HPO term]
- Vertigo [HPO term]
- Vestibular dysfunction [HPO term]
ORDO concept(s)
- Maternally-inherited diabetes and deafness [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diabetes-deafness syndrome maternally transmitted (disorder) [SNOMED CT concept]
- Maternal Diabetes and Deafness Syndrome [NCIt concept]
- Maternally inherited diabetes and deafness [MedDRA Preferred Term]
- Maternally-inherited diabetes and deafness [ORDO Disease]
- Noninsulin-dependent diabetes mellitus with deafness [MeSH concept]
- diabetes deafness syndrome [Disease (Nov.)]
- noninsulin-dependent diabetes mellitus with deafness [MeSH Supplementary Concept]

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