KEGG   DISEASE: Neurodevelopmental disorder with movement abnormalities or hypotonia
Entry
H02397                      Disease                                
Name
Neurodevelopmental disorder with movement abnormalities or hypotonia
  Subgroup
NED with movement abnormalities, abnormal gait, and autistic features (NEDMAGA)
NED with behavioral abnormalities, absent speech, and hypotonia (NEDBASH)
NED with involuntary movement and abnormal electroencephalogram (NEDIMAE)
NED with hypotonia and autistic features with hyperkinetic movements (NEDHAHM)
NED with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB)
NED with hypotonia and dysmorphic facies (NEDHYDF)
NED with hyperkinetic movements and seizures (NDHMSR)
NED with language impairment and behavioral abnormalities (NEDLIB)
NED with seizures and gait abnormalities (NEDSGA)
NED with seizures, hypotonia, and brain abnormalities (NEDSHBA)
NED with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (NEDHRIT)
NED with hypotonia, seizures, and absent language (NDHSAL)
NED with hypotonia, facial dysmorphism, and brain abnormalities (NEDHFBA)
NED with hypotonia and brain abnormalities (NEDHYBA)
NED with dysmorphic facies, impaired speech and hypotonia (NEDDISH)
  Supergrp
Syndromic neurodevelopmental disorder [DS:H02459]
Description
Neurodevelopmental disorder (NED) with movement abnormalities or hypotonia is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to movement abnormalities or hypotonia. Several underlying genetic causes of these diseases have been identified.
Category
Mental and behavioural disorder
Brite
Human diseases [BR:br08402]
 Other diseases
  Mental and behavioural disorders
   H02397  Neurodevelopmental disorder with movement abnormalities or hypotonia
Human diseases in ICD-11 classification [BR:br08403]
 06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A0Y  Other specified neurodevelopmental disorders
    H02397  Neurodevelopmental disorder with movement abnormalities or hypotonia
Related
pathway
hsa04724 Glutamatergic synapse   
hsa04728 Dopaminergic synapse   
hsa04713 Circadian entrainment   
hsa04080 Neuroactive ligand-receptor interaction   
hsa04024 cAMP signaling pathway   
hsa04723 Retrograde endocannabinoid signaling   
Gene
(NEDMAGA) ZSWIM6 [HSA:57688] [KO:K25704]
(NEDBASH) NTNG2 [HSA:84628] [KO:K16359]
(NEDIMAE) SYT1 [HSA:6857] [KO:K15290]
(NEDHAHM) VAMP2 [HSA:6844] [KO:K13504]
(NEDHIB) POLR2A [HSA:5430] [KO:K03006]
(NEDHYDF) GNB2 [HSA:2783] [KO:K04537]
(NDHMSR) GRIN1 [HSA:2902] [KO:K05208]
(NEDLIB) GRIA2 [HSA:2891] [KO:K05198]
(NEDSGA) GRIA4 [HSA:2893] [KO:K05200]
(NEDSHBA) GRM7 [HSA:2917] [KO:K04609]
(NEDHRIT) RALGAPA1 [HSA:253959] [KO:K25768]
(NDHSAL) HECW2 [HSA:57520] [KO:K12168]
(NEDHFBA) PPP1R21 [HSA:129285] [KO:K17562]
(NEDHYBA) CLCN3 [HSA:1182] [KO:K05012]
(NEDDISH) MADD [HSA:8567]
Other DBs
ICD-11: 6A0Y
OMIM: 617865 618718 618218 618760 618603 619503 617820 618917 617864 618922 618797 617268 619383 619512 619005
Reference
  Authors
Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R, Rio M, Murray L, Leffler M, Dudding-Byth T, Oufadem M, Lalani SR, Lewis AM, Xia F, Tam A, Webster R, Brammah S, Filippini F, Pollard J, Spies J, Minoche AE, Cowley MJ, Risen S, Powell-Hamilton NN, Tusi JE, Immken L, Nagakura H, Bole-Feysot C, Nitschke P, Garrigue A, de Saint Basile G, Kivuva E, Scott RH, Rendon A, Munnich A, Newman W, Kerr B, Besmond C, Rosenfeld JA, Amiel J, Field M, Gecz J
  Title
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
  Journal
Am J Hum Genet 101:995-1005 (2017)
DOI:10.1016/j.ajhg.2017.10.009
Reference
  Authors
Tischfield DJ, Saraswat DK, Furash A, Fowler SC, Fuccillo MV, Anderson SA
  Title
Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulation.
  Journal
Neurobiol Dis 103:174-183 (2017)
DOI:10.1016/j.nbd.2017.04.013
Reference
  Authors
Dias CM, Punetha J, Zheng C, Mazaheri N, Rad A, Efthymiou S, Petersen A, Dehghani M, Pehlivan D, Partlow JN, Posey JE, Salpietro V, Gezdirici A, Malamiri RA, Al Menabawy NM, Selim LA, Vahidi Mehrjardi MY, Banu S, Polla DL, Yang E, Rezazadeh Varaghchi J, Mitani T, van Beusekom E, Najafi M, Sedaghat A, Keller-Ramey J, Durham L, Coban-Akdemir Z, Karaca E, Orlova V, Schaeken LLM, Sherafat A, Jhangiani SN, Stanley V, Shariati G, Galehdari H, Gleeson JG, Walsh CA, Lupski JR, Seiradake E, Houlden H, van Bokhoven H, Maroofian R
  Title
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
  Journal
Am J Hum Genet 105:1048-1056 (2019)
DOI:10.1016/j.ajhg.2019.09.025
Reference
  Authors
Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, Owen D, Turner BJ, Boyd SG, Rossi M, Al-Raqad M, Elpeleg O, Peck D, Mancini GMS, Wilke M, Zollino M, Marangi G, Weigand H, Borggraefe I, Haack T, Stark Z, Sadedin S, Tan TY, Jiang Y, Gibbs RA, Ellingwood S, Amaral M, Kelley W, Kurian MA, Cousin MA, Raymond FL
  Title
SYT1-associated neurodevelopmental disorder: a case series.
  Journal
Brain 141:2576-2591 (2018)
DOI:10.1093/brain/awy209
Reference
  Authors
Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H
  Title
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
  Journal
Am J Hum Genet 104:721-730 (2019)
DOI:10.1016/j.ajhg.2019.02.016
Reference
  Authors
Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalova D, Havlovicova M, Vlckova M, Sedlacek Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM
  Title
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
  Journal
Am J Hum Genet 105:283-301 (2019)
DOI:10.1016/j.ajhg.2019.06.016
Reference
  Authors
Fukuda T, Hiraide T, Yamoto K, Nakashima M, Kawai T, Yanagi K, Ogata T, Saitsu H
  Title
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.
  Journal
Eur J Med Genet 63:103804 (2020)
DOI:10.1016/j.ejmg.2019.103804
Reference
  Authors
Zehavi Y, Mandel H, Zehavi A, Rashid MA, Straussberg R, Jabur B, Shaag A, Elpeleg O, Spiegel R
  Title
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.
  Journal
Eur J Med Genet 60:317-320 (2017)
DOI:10.1016/j.ejmg.2017.04.001
Reference
  Authors
Martin S, Chamberlin A, Shinde DN, Hempel M, Strom TM, Schreiber A, Johannsen J, Ousager LB, Larsen MJ, Hansen LK, Fatemi A, Cohen JS, Lemke J, Sorensen KP, Helbig KL, Lessel D, Abou Jamra R
  Title
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.
  Journal
Am J Hum Genet 101:1013-1020 (2017)
DOI:10.1016/j.ajhg.2017.11.004
Reference
  Authors
Marafi D, Mitani T, Isikay S, Hertecant J, Almannai M, Manickam K, Abou Jamra R, El-Hattab AW, Rajah J, Fatih JM, Du H, Karaca E, Bayram Y, Punetha J, Rosenfeld JA, Jhangiani SN, Boerwinkle E, Akdemir ZC, Erdin S, Hunter JV, Gibbs RA, Pehlivan D, Posey JE, Lupski JR
  Title
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
  Journal
Ann Clin Transl Neurol 7:610-627 (2020)
DOI:10.1002/acn3.51003
Reference
  Authors
Wagner M, Skorobogatko Y, Pode-Shakked B, Powell CM, Alhaddad B, Seibt A, Barel O, Heimer G, Hoffmann C, Demmer LA, Perilla-Young Y, Remke M, Wieczorek D, Navaratnarajah T, Lichtner P, Klee D, Shamseldin HE, Al Mutairi F, Mayatepek E, Strom T, Meitinger T, Alkuraya FS, Anikster Y, Saltiel AR, Distelmaier F
  Title
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
  Journal
Am J Hum Genet 106:246-255 (2020)
DOI:10.1016/j.ajhg.2020.01.002
Reference
  Authors
Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bonnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK
  Title
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
  Journal
J Med Genet 54:84-86 (2017)
DOI:10.1136/jmedgenet-2016-103943
Reference
  Authors
Rehman AU, Najafi M, Kambouris M, Al-Gazali L, Makrythanasis P, Rad A, Maroofian R, Rajab A, Stark Z, Hunter JV, Bakey Z, Tokita MJ, He W, Vetrini F, Petersen A, Santoni FA, Hamamy H, Wu K, Al-Jasmi F, Helmstadter M, Arnold SJ, Xia F, Richmond C, Liu P, Karimiani EG, Karami Madani G, Lunke S, El-Shanti H, Eng CM, Antonarakis SE, Hertecant J, Walkiewicz M, Yang Y, Schmidts M
  Title
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
  Journal
Hum Mutat 40:267-280 (2019)
DOI:10.1002/humu.23694
Reference
  Authors
Duncan AR, Polovitskaya MM, Gaitan-Penas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L, van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estevez R, Jentsch TJ, Pusch M, Agrawal PB
  Title
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
  Journal
Am J Hum Genet 108:1450-1465 (2021)
DOI:10.1016/j.ajhg.2021.06.003
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