Megalencephalic leukoencephalopathy with subcortical cysts

Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts
Classification and external resources
OMIM 604004
DiseasesDB 33813

Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of hereditary CNS demyelinating disease. It belongs to a group of disorders called leukodystrophies.

It is associated with MLC1.[1][2]

External links

References

  1. ^ Ilja Boor PK, de Groot K, Mejaski-Bosnjak V, et al (June 2006). "Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1". Hum. Mutat. 27 (6): 505–12. doi:10.1002/humu.20332. PMID 16652334. 
  2. ^ "Megalencephalic leukoencephalopathy with subcortical cysts - Genetics Home Reference". http://ghr.nlm.nih.gov/condition=megalencephalicleukoencephalopathywithsubcorticalcysts. Retrieved 2009-03-11. 
v · d · ePathology of the nervous system, primarily CNS (G04–G47, 323–349)
Inflammation
Encephalitis (Viral encephalitis, Herpesviral encephalitis) · Cavernous sinus thrombosis · Brain abscess (Amoebic)
Both/either
Brain/
encephalopathy
Episodic/
paroxysmal
Intracranial hypertension (Hydrocephalus/NPH, Idiopathic intracranial hypertension) · Cerebral edema · Intracranial hypotension
Other
Brain herniation · Reye's · Hepatic encephalopathy · Toxic encephalopathy
Spinal cord/
myelopathy
Both/either
UMN only: PLS · PP · HSP
both: ALS

M: CNS

anat(n/s/m/p/4/e/b/d/c/a/f/l/g)/phys/devp

noco(m/d/e/h/v/s)/cong/tumr, sysi/epon, injr

proc, drug(N1A/2AB/C/3/4/7A/B/C/D)

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Look at other dictionaries:

  • Leukoencephalopathy — The term Leukoencephalopathy is a broad term for leukodystrophy like diseases (PMID 17414998). It is applied to all brain white matter diseases, whether their molecular cause is known. It can refer specifically to any of these… …   Wikipedia

  • MLC1 — Megalencephalic leukoencephalopathy with subcortical cysts 1, also known as MLC1, is a human gene.cite web | title = Entrez Gene: MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db …   Wikipedia

  • Macrocephaly — Infobox Disease Name = PAGENAME Caption = An MRI of a patient with benign familial macrocephaly (male with head circumference > 60cm) DiseasesDB = 22519 ICD10 = ICD10|Q|75|3|q|65 ICD9 = ICD9|756.0 ICDO = OMIM = 248000 MedlinePlus = 003305… …   Wikipedia

  • Leucodystrophie Mégalencéphalique — Autre nom Référence MIM …   Wikipédia en Français

  • Leucodystrophie megalencephalique — Leucodystrophie mégalencéphalique Leucodystrophie mégalencéphalique Autre nom Référence MIM …   Wikipédia en Français

  • Leucodystrophie mégalencéphalique — Référence MIM 604004 Transmission Récessive Chromosome 22qter Gène MLC1 Empreinte parentale Non …   Wikipédia en Français

  • Maladie d'Alexander — Référence MIM 203450 Transmission Dominante Chromosome 17q21 Gène GFAP Empreinte parentale Non …   Wikipédia en Français

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