Literature DB >> 931428

Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. 3 cases of 'DIDMOAD' syndrome.

J E Richardson, W Hamilton.   

Abstract

Three children with diabetes insipidus, diabetes mellitus, optic atrophy, and high-tone deafness were shown to lack vasopressin, indicative of degeneration of the cells of the hypothalamic supraoptic nuclei. The syndrome being due to a single gene defect, inherited as an autosomal recessive, is therefore likely to be the result of an inborn error of metabolism with variable periods of latency in those affected.

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Year:  1977        PMID: 931428      PMCID: PMC1544785          DOI: 10.1136/adc.52.10.796

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  6 in total

1.  A radioimmunoassay for plasma arginine-vasopressin in man and dog: application to physiological and pathological states.

Authors:  J J Morton; P L Padfield; M L Forsling
Journal:  J Endocrinol       Date:  1975-06       Impact factor: 4.286

2.  Recessive inheritance of diabetes: the syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness.

Authors:  M M Page; A C Asmal; C R Edwards
Journal:  Q J Med       Date:  1976-07

3.  Pedigrees with diabetes insipidus, diabetes mellitus, and optic atrophy.

Authors:  J H Sunder; T S Danowski; F M Kenny; R C Khurana; A Sun; S Nolan; T Stephan
Journal:  J Med Genet       Date:  1972-12       Impact factor: 6.318

4.  Juvenile diabetes mellitus, diabetes insipidus and neurological abnormalities.

Authors:  J R Moore; M E MacGregor
Journal:  Proc R Soc Med       Date:  1971-07

5.  The association of juvenile diabetes mellitus and optic atrophy: clinical and genetical aspects.

Authors:  F C Rose; G R Fraser; A I Friedmann; E M Kohner
Journal:  Q J Med       Date:  1966-07

6.  Optic atrophy and juvenile diabetes mellitus with familial occurrence.

Authors:  G Rorsman; N Söderström
Journal:  Acta Med Scand       Date:  1967-10
  6 in total
  4 in total

1.  Association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. The Wolfram or DIDMOAD syndrome.

Authors:  S S Najjar; M G Saikaly; G M Zaytoun; A Abdelnoor
Journal:  Arch Dis Child       Date:  1985-09       Impact factor: 3.791

2.  Wolfram syndrome: a clinical study of two cases.

Authors:  L Van den Bergh; T Zeyen; J Verhelst; C Mahler
Journal:  Doc Ophthalmol       Date:  1993       Impact factor: 2.379

3.  Diabetes insipidus, diabetes mellitus, optic atrophy and deafness. A clinical and genetic study.

Authors:  N A Nagi
Journal:  Postgrad Med J       Date:  1979-06       Impact factor: 2.401

Review 4.  The optic nerve head in hereditary optic neuropathies.

Authors:  Evelyn C O'Neill; David A Mackey; Paul P Connell; Alex W Hewitt; Helen V Danesh-Meyer; Jonathan G Crowston
Journal:  Nat Rev Neurol       Date:  2009-05       Impact factor: 42.937

  4 in total

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