Mucolipidosis type IV (ML-IV) is an autosomal recessive lysosomal storage disease that causes severe neurologic abnormalities.
Synopsis
brain : pigmented cytoplasmic granules in neurons and accumulation of lamellated membrane structures in lysosomes
stomach: cytoplasmic vacuolization of parietal cells
Ultrastructure
lysosomal inclusions in gastric parietal cells
Animals models
Mouse: #17924347#
Reviews
Slaugenhaupt SA. The molecular basis of mucolipidosis type IV. Curr Mol (...)
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Disease
Articles
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mucolipidosis type IV
12 November 2003 -
homozygous familial hypercholesterolemia
6 February 2004FH fetus
multifocal lipid deposition particularly involving the stromal cells of the thymus, spleen, and skin and both the stromal and parenchymal cells of the kidney. Only one minute focus of intimal lipid accumulation was found in the aorta and coronary arteries of the FH fetus.
Micoscopical synopsis
ascending aorta
foam-cell transformation of many medial smooth-muscle cells
abnormal vascularization of the inner media and intima
intimal involvement by a typical artherosclerotic (...) -
immunoglobulin heavy chain deposition disease
12 December 2003 -
monoclonal immunoglobulin deposition disease
12 December 2003Classification
immunoglobulin light chain deposition disease
immunoglobulin heavy chain deposition disease -
X-linked thrombocytopenia
7 March 2004XLT
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urea cycle diseases
19 April 2004urea-cycle disorders, urea cycle disorder, disorders of the urea cycle, anomalies of urea cycle
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LADD syndrome
28 March 2007Lacrimoauriculodentodigital syndrome (LADD), Levy-Hollister syndrome
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x-linked ectodermal dysplasia
12 October 2007ectodermal dysplasia type 1, ED1
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TAR syndrome
12 October 2007thrombocytopenia-absent-radius syndrome, thrombocytopenia-absent tetraphocomelia syndrome
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lethal congenital contracture syndromes
15 October 2007LCCSs
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