Inherited ossifying diseases are relatively uncommon diseases leading ta a great disability and life-threatening complications.
Types
Fibrodysplasia Ossificans Progressiva (FOP) FOP is characterized by the association of skeletal abnormalities mainly in great toes, and enchondral ossifications in tendons and muscles. BMP dysregulation seems to be the main underlying mechanism of the heterotopic ossifications. The genetic basis remain controversial between a mutation on chromosome 4 or (...)
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Disease group (mechanisms)
Articles
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fibrotic lung diseases
23 August 2004 -
inherited ossifying diseases
13 September 2007 -
hepatorenal dysplasia
7 December 2004renohepatic dysplasias
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autosomal dominant primary immunodeficiencies
5 February 2008ADPID
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motor neuron diseases
14 October 2004MNDs
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severe congenital neutropenias
13 April 2004infantile genetic agranulocytosis, severe congenital neutropenia
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lipid absorption diseases
24 October 2005lipid absorption disorders
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storage diseases
25 October 2005According to the storing cell
hepatocytic storage diseases
macrophagic storage diseases
neuronal storage diseases
According to the storing organ
hepatic storage diseases
splenic storage diseases
pulmonary storage diseases
cerebral storage diseases
renal storage diseases
medullary storage diseases
According to the storing organnelle
lysosomal storage diseases
endoplasmic reticulum storage diseases
cytoplasmic storage diseases
extracellular storage (...) -
iron overload disorders
7 May 2004See also
iron-linked diseases
References
De Domenico I, McVey Ward D, Kaplan J. Regulation of iron acquisition and storage: consequences for iron-linked disorders. Nat Rev Mol Cell Biol. 2008 Jan;9(1):72-81. PMID: #17987043#
Bottomley SS. Secondary iron overload disorders. Semin Hematol. 1998 Jan;35(1):77-86. PMID: #9460811# -
mastocytosis
16 May 2006mastocytoses
2016 WHO classification
cutaneous mastocytosis / CM
maculopapular cutaneous mastocytosis / MPCM = urticaria pigmentosa / UP
diffuse cutaneous mastocytosis / DCM
mastocytoma of the skin / cutaneous mastocytoma
systemic mastocytosis / SM
indolent systemic mastocytosis
smoldering systemic mastocytosis
SM with associated hematologic neoplasm / SM-AHN / SH-AHNMD
aggressive systemic mastocytosis
mast cell leukemia / MCL
mast cell sarcoma / MCS
Types (...)