KEGG DISEASE: Nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

KEGG

DISEASE: Nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

Entry

H03007                      Disease

Name

Nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

Supergrp

Neurodevelopmental disorder with movement abnormalities or hypotonia [DS:H02397]
Syndromic neurodevelopmental disorder [DS:H02459]

Description

Nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus (NEDSTO) is an autosomal recessive neurologic disorder characterized by mild neurodevelopmental delay, axial muscular hypotonia, spasticity, hypokinesia, and transient opisthotonus, caused by mutations in the Tenascin-R (TNR) gene. TNR is an extracellular matrix molecule involved in neurite outgrowth and neural cell adhesion, proliferation and migration, axonal guidance, myelination, and synaptic plasticity.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H03007  Nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06548  Integrin signaling
   H03007  Nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

Pathway

hsa04518 Integrin signaling

hsa04510 Focal adhesion

hsa04512 ECM-receptor interaction

Network

nt06548 Integrin signaling

Gene

TNR [HSA:7143] [KO:K06252]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Wagner M, Levy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Berges M, Kitajima JP, Kim CA, Salomao JG, Amor DJ, Cooper MS, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani EG, Toosi MB, Houlden H, Jin SC, Si YC, Rodan LH, Venselaar H, Kruer MC, Kok F, Hoffmann GF, Strom TM, Wortmann SB, Tabet AC, Opladen T

Title

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.

Journal

Genet Med 22:1061-1068 (2020)
DOI:10.1038/s41436-020-0768-7

Reference

Authors

Dufresne D, Hamdan FF, Rosenfeld JA, Torchia B, Rosenblatt B, Michaud JL, Srour M

Title

Homozygous deletion of Tenascin-R in a patient with intellectual disability.

Journal

J Med Genet 49:451-4 (2012)
DOI:10.1136/jmedgenet-2012-100831

LinkDB

» Japanese version

DBGET integrated database retrieval system