KEGG DISEASE: Hypermanganesemia with dystonia

DISEASE: Hypermanganesemia with dystonia

Entry

H01938                      Disease

Name

Hypermanganesemia with dystonia

Description

Hypermanganesemia with dystonia (HMNDYT) is an autosomal recessive disorder of manganese (Mn) homeostasis. Loss-of-function mutations in SLC30A10, a Mn efflux transporter, or SLC39A14, a Mn influx transporter, increase Mn levels in blood and brain, and induce severe neurotoxicity.

Category

Hematologic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C64  Disorders of mineral absorption or transport
     H01938  Hypermanganesemia with dystonia
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06525  Ferroptosis
   H01938  Hypermanganesemia with dystonia

Pathway

hsa04216

Ferroptosis

Network

nt06525 Ferroptosis

Gene

(HMNDYT1) SLC30A10 [HSA:55532] [KO:K14697]
(HMNDYT2) SLC39A14 [HSA:23516] [KO:K14720]

Other DBs

ICD-11:

5C64.Y

MeSH:

C548016

OMIM:

613280 617013

Reference

PMID:28789954

Authors

Mukhopadhyay S

Title

Familial manganese-induced neurotoxicity due to mutations in SLC30A10 or SLC39A14.

Journal

Neurotoxicology S0161-813X(17)30161-4 (2017)
DOI:10.1016/j.neuro.2017.07.030

Reference

PMID:27231142 (SLC39A14)

Authors

Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW

Title

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

Journal

Nat Commun 7:11601 (2016)
DOI:10.1038/ncomms11601

Reference

PMID:22341972 (SLC30A10)

Authors

Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB

Title

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.

Journal

Am J Hum Genet 90:457-66 (2012)
DOI:10.1016/j.ajhg.2012.01.018

LinkDB

» Japanese version

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