Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Diabetes-deafness syndrome maternally transmitted(MIDD)

MedGen UID:: 90979
•Concept ID:: C0342289
•: Disease or Syndrome

Synonyms:	Ballinger Wallace syndrome; Diabetes and Hearing Loss; Diabetes mellitus type II with deafness; Maternally inherited diabetes and deafness; MIDD; NIDDM WITH DEAFNESS; NONINSULIN-DEPENDENT DIABETES MELLITUS WITH DEAFNESS
SNOMED CT:	Ballinger-Wallace syndrome (237619009); Diabetes-deafness syndrome maternally transmitted (237619009); Maternally inherited diabetes and deafness (237619009); MIDD - maternally inherited diabetes and deafness (237619009); Maternally-inherited diabetes and hearing loss (237619009); Mitochondrial diabetes (237619009)
Modes of inheritance:	Mitochondrial inheritance MedGen UID: 165802 •Concept ID: C0887941 • Genetic Function Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). Mitochondrial inheritance (Orphanet)

Monarch Initiative:	MONDO:0010785
OMIM®:	520000
Orphanet:	ORPHA225

Definition

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. [from OMIM]

Additional description

From MedlinePlus Genetics
Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar (glucose) levels, known as hyperglycemia. This results from a shortage of the hormone insulin, which regulates the amount of glucose in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes.

Some people with MIDD develop an eye disorder called macular retinal dystrophy, which is characterized by colored patches in the light-sensitive tissue that lines the back of the eye (the retina). This disorder does not usually cause vision problems in people with MIDD. Individuals with MIDD also may experience muscle cramps or weakness, particularly during exercise; heart problems; kidney disease; and constipation. Individuals with MIDD are often shorter than their peers. https://medlineplus.gov/genetics/condition/maternally-inherited-diabetes-and-deafness

Clinical features

From HPO

Cardiomyopathy

MedGen UID:: 209232
•Concept ID:: C0878544
•: Disease or Syndrome

A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.

See: Feature record | Search on this feature

Sensorineural hearing loss disorder

MedGen UID:: 9164
•Concept ID:: C0018784
•: Disease or Syndrome

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

See: Feature record | Search on this feature

Vertigo

MedGen UID:: 53006
•Concept ID:: C0042571
•: Sign or Symptom

An abnormal sensation of spinning while the body is actually stationary.

See: Feature record | Search on this feature

Abnormal vestibular function

MedGen UID:: 334848
•Concept ID:: C1843865
•: Finding

An abnormality of the functioning of the vestibular apparatus.

See: Feature record | Search on this feature

Dysarthria

MedGen UID:: 8510
•Concept ID:: C0013362
•: Mental or Behavioral Dysfunction

Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.

See: Feature record | Search on this feature

Seizure

MedGen UID:: 20693
•Concept ID:: C0036572
•: Sign or Symptom

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

See: Feature record | Search on this feature

Unsteady gait

MedGen UID:: 68544
•Concept ID:: C0231686
•: Finding

A shaky or wobbly manner of walking.

See: Feature record | Search on this feature

Type 2 diabetes mellitus

MedGen UID:: 41523
•Concept ID:: C0011860
•: Disease or Syndrome

WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.

See: Feature record | Search on this feature

Hyperglycemia

MedGen UID:: 5689
•Concept ID:: C0020456
•: Disease or Syndrome

An increased concentration of glucose in the blood.

See: Feature record | Search on this feature

Ptosis

MedGen UID:: 2287
•Concept ID:: C0005745
•: Disease or Syndrome

The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

See: Feature record | Search on this feature

Retinal degeneration

MedGen UID:: 48432
•Concept ID:: C0035304
•: Finding

A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.

See: Feature record | Search on this feature

External ophthalmoplegia

MedGen UID:: 57662
•Concept ID:: C0162292
•: Disease or Syndrome

Paralysis of the external ocular muscles.

See: Feature record | Search on this feature

Constriction of peripheral visual field

MedGen UID:: 68613
•Concept ID:: C0235095
•: Finding

An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.

See: Feature record | Search on this feature

Pigmentary retinopathy

MedGen UID:: 1643295
•Concept ID:: C4551715
•: Disease or Syndrome

An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.

See: Feature record | Search on this feature

Show all Hide all