KEGG DISEASE: Developmental delay, leukoencephalopathy, and neurologic decompensation

KEGG

DISEASE: Developmental delay, leukoencephalopathy, and neurologic decompensation

Entry

H02457                      Disease

Name

Developmental delay, leukoencephalopathy, and neurologic decompensation

Subgroup

Leukoencephalopathy, motor delay, spasticity, and dysarthria (LEMSPAD)
Leukoencephalopathy, developmental delay, and episodic neurologic regression (LEUDEN)

Description

Developmental delay, leukoencephalopathy, and neurologic decompensation is an autosomal dominant neurodevelopmental syndrome caused by missense mutations in EIF2AK1 and EIF2AK2. They encode members of the eIF-2-alpha kinase family that inhibits protein synthesis in response to physiologic stress conditions.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Multiple sclerosis or other white matter disorders
   8A4Y  Other specified multiple sclerosis or other white matter disorders
    H02457  Developmental delay, leukoencephalopathy, and neurologic decompensation

Pathway

Protein processing in endoplasmic reticulum

Gene

(LEMSPAD) EIF2AK1 [HSA:27102] [KO:K16194]
(LEUDEN) EIF2AK2 [HSA:5610] [KO:K16195]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Kury S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT

Title

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Journal

Am J Hum Genet 106:570-583 (2020)
DOI:10.1016/j.ajhg.2020.02.016

LinkDB

» Japanese version

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