KEGG DISEASE: Autosomal recessive peripheral neuropathy (PNRIID)

KEGG

DISEASE: Autosomal recessive peripheral neuropathy (PNRIID)

Entry

H02345                      Disease

Name

Autosomal recessive peripheral neuropathy (PNRIID)

Description

Autosomal recessive peripheral neuropathy with or without impaired intellectual development (PNRIID) is characterized by sensorymotor polyneuropathy and distal muscle weakness. It could be associated with mild intellectual disability, strabismus, and ophthalmoparesis. It has been reported that PNRIID is caused by mutations in the MCM3AP, encoding the germinal center associated nuclear protein (GANP).

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Disorders of nerve root, plexus or peripheral nerves
   Hereditary neuropathy
    8C20  Hereditary motor and sensory neuropathy
     H02345  Autosomal recessive peripheral neuropathy (PNRIID)

Gene

MCM3AP [HSA:8888] [KO:K24317]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lonnqvist T, Tyynismaa H

Title

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

Journal

Brain 140:2093-2103 (2017)
DOI:10.1093/brain/awx138

Reference

Authors

Karakaya M, Mazaheri N, Polat I, Bharucha-Goebel D, Donkervoort S, Maroofian R, Shariati G, Hoelker I, Monaghan K, Winchester S, Zori R, Galehdari H, Bonnemann CG, Yis U, Wirth B

Title

Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.

Journal

Brain 140:e65 (2017)
DOI:10.1093/brain/awx222

LinkDB

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