KEGG DISEASE: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

KEGG

DISEASE: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

Entry

H02572                      Disease

Name

Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

Description

Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) is a rare autosomal recessive epilepsy-ataxia syndrome initiating with sudden severe seizures. Disease progress was variable but frequently associated with periods of increased stress, such as infections. It has been reported that biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, cause CONDSIAS.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Other disorders of the nervous system
   8E4Y  Other specified disorders of the nervous system
    H02572  Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06504  Base excision repair
   H02572  Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

Pathway

hsa03410 Base excision repair

Network

nt06504 Base excision repair

Gene

ADPRHL2 [HSA:54936] [KO:K11687]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovacs-Nagy R, Gusic M, Graf E, Laugwitz L, Roblitz M, Wroblewski A, Hartmann H, Das AM, Bultmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Ploski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB

Title

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

Journal

Am J Hum Genet 103:817-825 (2018)
DOI:10.1016/j.ajhg.2018.10.005

Reference

Authors

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmuller J, Nurnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG

Title

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Journal

Am J Hum Genet 103:431-439 (2018)
DOI:10.1016/j.ajhg.2018.07.010

LinkDB

» Japanese version

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