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Wolfram syndrome 1
WFS1 Wolfram syndrome spectrum disorder (WFS1-WSSD) is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus (DM) and optic atrophy (OA) before age 16 years, and typically associated with other endocrine abnormalities, sensorineural hearing loss, and progressive neurologic abnormalities (cerebellar ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract atony). Although DM is mostly insulin-dependent, overall the course is milder (with lower prevalence of microvascular disease) than that seen in isolated DM. OA typically results in significantly reduced visual acuity in the first decade. Sensorineural hearing impairment ranges from congenital deafness to milder, sometimes progressive, hearing impairment. [from GeneReviews]
Atrophy
Any weakening or degeneration, especially through lack of use. [from NCI]
Wolfram syndrome
Optic atrophy
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. [from HPO]
Diabetes mellitus
A group of abnormalities characterized by hyperglycemia and glucose intolerance. [from HPO]
Autosomal recessive inheritance
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]
Blindness
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. [from HPO]
Hearing impairment
A decreased magnitude of the sensory perception of sound. [from HPO]
Hearing problem
A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear. [from NCI]
Metamorphopsia
A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. [from HPO]
Pituitary gland disorder
A non-neoplastic or neoplastic disorder that affects the pituitary gland. [from NCI]
Hereditary optic atrophy
A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve. [from NCI]
Hemeralopia
A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness. [from HPO]
Hereditary eye diseases
Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. [from MeSH]
Diabetes mellitus type 1
Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. [from OMIM]
Vision disorder
Any impairment to the vision. [from NCI]
Diabetes insipidus
A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). [from HPO]
Multiple congenital anomalies
The presence of multiple congenital malformations in a patient. [from NCI]
Deafness
An inherited or acquired condition characterized by the inability to hear in one or both ears. [from NCI]
Disorder of ear
A non-neoplastic or neoplastic disorder that affects the ear. Representative examples include infections, hearing disorders, benign neoplasms, and carcinomas. [from NCI]
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