Wolfram Syndrome [Wolframův syndrom]

topical
8
Terms

DIDMOAD syndrom
Wolframův syndrom 1

 

Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness
DIDMOAD
DIDMOAD Syndrome
DIDMOADUD
Wolfram Syndrome 1

Persistent link   https://www.medvik.cz/link/D014929
Definition

A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.

DUI
D014929 MeSH Browser
CUI
M0022993
Previous indexing
Deafness (1966-1985); Diabetes Insipidus (1966-1985); Diabetes Mellitus, Insulin-Dependent (1984-1985); Optic Atrophy (1966-1985)
History note
86
Public note
86

C Diseases
C09.218 Ear Diseases 315
C09.218.458 Hearing Disorders 1 289
C09.218.458.341 Hearing Loss 203
C09.218.458.341.186 Deafness 434
C09.218.458.341.186.500 Deaf-Blind Disorders 65
C09.218.458.341.186.500.250 CHARGE Syndrome 1
C09.218.458.341.186.500.500 Usher Syndromes 8
C09.218.458.341.186.500.750 Wolfram Syndrome 8
C10.292.700 Optic Nerve Diseases 118
C10.292.700.225 Optic Atrophy 51
C10.292.700.225.500 Optic Atrophies, Hereditary 5
C10.292.700.225.500.100 Optic Atrophy, Autosomal Dominant 3
C10.292.700.225.500.400 Optic Atrophy, Hereditary, Leber 24
C10.292.700.225.500.980 Wolfram Syndrome 8
C10.574.500.662.400 Optic Atrophy, Hereditary, Leber 24
C10.574.500.662.980 Wolfram Syndrome 8
C10.597.751 Sensation Disorders 93
C10.597.751.418 Hearing Disorders 1 289
C10.597.751.418.341 Hearing Loss 203
C10.597.751.418.341.186 Deafness 434
C10.597.751.418.341.186.500 Deaf-Blind Disorders 65
C10.597.751.418.341.186.500.250 CHARGE Syndrome 1
C10.597.751.418.341.186.500.500 Usher Syndromes 8
C10.597.751.418.341.186.500.750 Wolfram Syndrome 8
C10.597.751.941 Vision Disorders 703
C10.597.751.941.162 Blindness 424
C10.597.751.941.162.625 Deaf-Blind Disorders 65
C10.597.751.941.162.625.250 CHARGE Syndrome 1
C10.597.751.941.162.625.500 Usher Syndromes 8
C10.597.751.941.162.625.750 Wolfram Syndrome 8
C11 Eye Diseases 1 485
C11.270.564.980 Wolfram Syndrome 8
C11.640.451 Optic Atrophy 51
C11.640.451.451.400 Optic Atrophy, Hereditary, Leber 24
C11.640.451.451.980 Wolfram Syndrome 8
C11.966 Vision Disorders 703
C11.966.075 Blindness 424
C11.966.075.375 Deaf-Blind Disorders 65
C11.966.075.375.250 CHARGE Syndrome 1
C11.966.075.375.500 Usher Syndromes 8
C11.966.075.375.750 Wolfram Syndrome 8
C12.050.351.968 Urologic Diseases 834
C12.050.351.968.419 Kidney Diseases 3 059
C12.050.351.968.419.135 Diabetes Insipidus 173
C12.050.351.968.419.135.500 Diabetes Insipidus, Nephrogenic 19
C12.050.351.968.419.135.750 Diabetes Insipidus, Neurogenic 23
C12.050.351.968.419.135.875 Wolfram Syndrome 8
C12.200.777 Urologic Diseases 834
C12.200.777.419 Kidney Diseases 3 059
C12.200.777.419.135 Diabetes Insipidus 173
C12.200.777.419.135.500 Diabetes Insipidus, Nephrogenic 19
C12.200.777.419.135.750 Diabetes Insipidus, Neurogenic 23
C12.200.777.419.135.875 Wolfram Syndrome 8
C12.950.419 Kidney Diseases 3 059
C12.950.419.135 Diabetes Insipidus 173
C12.950.419.135.500 Diabetes Insipidus, Nephrogenic 19
C12.950.419.135.750 Diabetes Insipidus, Neurogenic 23
C12.950.419.135.875 Wolfram Syndrome 8
C16.131.077.299 Deaf-Blind Disorders 65
C16.131.077.299.250 CHARGE Syndrome 1
C16.131.077.299.500 Usher Syndromes 8
C16.131.077.299.750 Wolfram Syndrome 8
C16.320.290.564.400 Optic Atrophy, Hereditary, Leber 24
C16.320.290.564.980 Wolfram Syndrome 8
C16.320.400.630.400 Optic Atrophy, Hereditary, Leber 24
C16.320.400.630.980 Wolfram Syndrome 8
C18.452 Metabolic Diseases 1 196
C18.452.394.750 Diabetes Mellitus 9 524
C18.452.394.750.124 Diabetes Mellitus, Type 1 3 001
C18.452.394.750.124.960 Wolfram Syndrome 8
C19.246 Diabetes Mellitus 9 524
C19.246.267 Diabetes Mellitus, Type 1 3 001
C19.246.267.960 Wolfram Syndrome 8
C19.700.159 Diabetes Insipidus 173
C19.700.159.875 Wolfram Syndrome 8