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Pelizaeus–Merzbacher disease is the common name for hypomyelinating leukodystrophies (HLD). [6] There are at least 26 HLD variants cataloged by the National Institutes of Health National Library of Medicine [ 7 ] and the Online Mendelian Inheritance in Man (OMIM) compendium of human genes and genetic phenotypes.
Download QR code; Print/export Download as PDF; Printable version; In other projects ... Pelizaeus–Merzbacher disease: PML Progressive multifocal leukoencephalopathy:
Specific types of leukodystrophy include the following with their respective ICD-10 codes when available: [citation needed] (E75.2) Alexander disease (E75.2) Canavan disease (E75.2) Hypomyelinating leukodystrophy type 7 (4H syndrome) (E75.2) Krabbe disease (E75.2) Metachromatic leukodystrophy (E75.2) Pelizaeus–Merzbacher disease
The root codes for ICD-10 and ICD-10-CM are the same, making it helpful for locating codes for general body systems and disease processes. [2] [3] In ICD-11 the search and coding of any disease, including rare ones is done via the ICD-11 website. [4] Retaining detailed information about every individual rare diseases is best done with the URI ...
Proteolipid protein 1 (PLP1) is a form of myelin proteolipid protein (PLP). Mutations in PLP1 are associated with Pelizaeus–Merzbacher disease.It is a 4 transmembrane domain protein which is proposed to bind other copies of itself on the extracellular side of the membrane.
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
The first case of the MASA Syndrome was found in a boy in Asia. The patient was a 10-year-old boy with symptoms like, mild mental retardation, bilateral adducted thumbs and corpus callosum hypoplasia. [15] His family did not have any history with MASA syndrome. There is not just one specific doctor or scientist for this disorder.
A recent study has resulted the in detection of three rare novel variants in exon 15 of UBA1 that segregated with the disease: two missense mutations present in each of one XLSMA family (314370.0001, 314370.0002), and one synonymous C-to-T substitution (314370.0003) identified in another three unrelated families. [6]