Maternally-inherited diabetes and deafness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NONINSULIN-DEPENDENT DIABETES MELLITUS WITH DEAFNESS DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED NIDDM WITH DEAFNESS DIABETES MELLITUS, TYPE II, WITH DEAFNESS BALLINGER-WALLACE SYNDROME MIDD Mitochondrial diabetes |
| Number of Symptoms | 70 |
| OrphanetNr: | 225 |
| OMIM Id: |
520000
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| ICD-10: |
E13 H90.3 |
| UMLs: |
C0342289 |
| MeSH: |
C536246 |
| MedDRA: |
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| Snomed: |
237619009 |
Prevalence, inheritance and age of onset:
| Prevalence: | <= 0.9 of 100 000 [Orphanet] |
| Inheritance: |
[Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Mitochondrial disease with eye involvement
-Rare eye disease -Rare genetic disease Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease Other rare diabetes mellitus -Rare endocrine disease Rare genetic diabetes mellitus -Rare genetic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0100820) | Glomerulopathy | Frequent [Orphanet] | 46 / 7739 | |||
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(HPO:0000083) | Renal insufficiency | Occasional [Orphanet] | 232 / 7739 | |||
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(HPO:0000093) | Proteinuria | Frequent [Orphanet] | 169 / 7739 | |||
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(HPO:0000608) | Macular degeneration | Very frequent [Orphanet] | 36 / 7739 | |||
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(HPO:0000602) | Ophthalmoplegia | Frequent [Orphanet] typical [HPO] | 56 / 7739 | |||
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(HPO:0000546) | Retinal degeneration | 61 / 7739 | ||||
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(HPO:0001103) | Abnormality of the macula | Very frequent [Orphanet] | 7 / 7739 | |||
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(HPO:0001146) | Pigmentary retinal degeneration | 15 / 7739 | ||||
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(HPO:0000532) | Chorioretinal abnormality | Very frequent [Orphanet] | 5 / 7739 | |||
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(HPO:0007754) | Macular dystrophy | Very frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0000618) | Blindness | Occasional [Orphanet] | 124 / 7739 | |||
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(HPO:0000597) | Ophthalmoparesis | Frequent [Orphanet] | 71 / 7739 | |||
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(HPO:0000505) | Visual impairment | Occasional [Orphanet] | 297 / 7739 | |||
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(HPO:0007731) | Chorioretinal dysplasia | Very frequent [Orphanet] | 16 / 7739 | |||
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(HPO:0001104) | Macular hypoplasia | Very frequent [Orphanet] | 9 / 7739 | |||
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(HPO:0007973) | Retinal dysplasia | Very frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0000518) | Cataract | Occasional [Orphanet] | 454 / 7739 | |||
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(HPO:0000488) | Retinopathy | Occasional [Orphanet] | 75 / 7739 | |||
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(HPO:0000544) | External ophthalmoplegia | Frequent [Orphanet] typical [HPO] | 40 / 7739 | |||
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(HPO:0001488) | Bilateral ptosis | 42 / 7739 | ||||
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(HPO:0001135) | Chorioretinal dystrophy | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0007981) | Concentric narrowing of visual fields | 2 / 7739 | ||||
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(HPO:0000556) | Retinal dystrophy | Very frequent [Orphanet] | 65 / 7739 | |||
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(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
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(HPO:0000646) | Amblyopia | Occasional [Orphanet] | 42 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0001751) | Vestibular dysfunction | 19 / 7739 | ||||
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(HPO:0002321) | Vertigo | Occasional [Orphanet] | 58 / 7739 | |||
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(HPO:0008625) | Severe sensorineural hearing impairment | Very frequent [Orphanet] hallmark [HPO] | 150 / 7739 | |||
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(HPO:0008527) | Congenital sensorineural hearing impairment | Very frequent [Orphanet] hallmark [HPO] | 165 / 7739 | |||
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(HPO:0001251) | Ataxia | Occasional [Orphanet] occasional [HPO] | 413 / 7739 | |||
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(HPO:0002311) | Incoordination | Occasional [Orphanet] | 84 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Occasional [Orphanet] occasional [HPO] | 327 / 7739 | |||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0002317) | Unsteady gait | 45 / 7739 | ||||
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(HPO:0002141) | Gait imbalance | Occasional [Orphanet] | 55 / 7739 | |||
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(HPO:0000819) | Diabetes mellitus | Very frequent [Orphanet] | 131 / 7739 | |||
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(HPO:0005978) | Type II diabetes mellitus | 68 / 7739 | ||||
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(HPO:0006136) | Bilateral postaxial polydactyly | 30 / 7739 | ||||
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(HPO:0002028) | Chronic diarrhea | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0002570) | Steatorrhea | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0002019) | Constipation | Very frequent [Orphanet] | 194 / 7739 | |||
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(HPO:0002024) | Malabsorption | Very frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0001678) | Atrioventricular block | Frequent [Orphanet] typical [HPO] | 59 / 7739 | |||
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(HPO:0001635) | Congestive heart failure | Frequent [Orphanet] | 232 / 7739 | |||
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(HPO:0001639) | Hypertrophic cardiomyopathy | Frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0011710) | Bundle branch block | Frequent [Orphanet] | 14 / 7739 | |||
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(HPO:0011675) | Arrhythmia | Frequent [Orphanet] | 226 / 7739 | |||
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(HPO:0001638) | Cardiomyopathy | 192 / 7739 | ||||
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(HPO:0001637) | Abnormality of the myocardium | 76 / 7739 | ||||
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(HPO:0000822) | Hypertension | Frequent [Orphanet] | 224 / 7739 | |||
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(HPO:0001644) | Dilated cardiomyopathy | Frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0003124) | Hypercholesterolemia | Frequent [Orphanet] | 53 / 7739 | |||
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(HPO:0002155) | Hypertriglyceridemia | Frequent [Orphanet] | 67 / 7739 | |||
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(HPO:0003119) | Abnormality of lipid metabolism | Frequent [Orphanet] | 60 / 7739 | |||
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(HPO:0003074) | Hyperglycemia | 37 / 7739 | ||||
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(HPO:0003077) | Hyperlipidemia | Frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0003326) | Myalgia | Frequent [Orphanet] | 143 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] typical [HPO] | 990 / 7739 | |||
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(HPO:0010547) | Muscle flaccidity | Frequent [Orphanet] | 466 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0001320) | Cerebellar vermis hypoplasia | Frequent [Orphanet] typical [HPO] | 57 / 7739 | |||
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(HPO:0002335) | Agenesis of cerebellar vermis | Frequent [Orphanet] typical [HPO] | 25 / 7739 | |||
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(HPO:0007360) | Aplasia/Hypoplasia of the cerebellum | Frequent [Orphanet] | 10 / 7739 | |||
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(HPO:0006817) | Aplasia/Hypoplasia of the cerebellar vermis | Frequent [Orphanet] typical [HPO] | 15 / 7739 | |||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Frequent [Orphanet] | 137 / 7739 | |||
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(OMIM) | Macular pattern dystrophy | 1 / 7739 | ||||
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(OMIM) | Normal visual acuity | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
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, ... |
| Clinical Description OMIM |
Kressmann (1976) reported a large family in which diabetes and deafness were transmitted over 4 generations, with a total of 13 affected individuals. The clinical history was the same for all affected patients: the first manifestation was deafness, ... |
| Molecular genetics OMIM |
In affected members of a family with maternally inherited diabetes and deafness, Ballinger et al. (1992) found a 10.4-kb mtDNA deletion (nucleotides 4398-14822), which was unique in being inherited through 3 generations at high levels and by the ... |