KEGG   DISEASE: Neurodevelopmental disorder with structural brain abnormalities
Entry
H02470                      Disease                                

Name
Neurodevelopmental disorder with structural brain abnormalities
  Subgroup
RERE-related neurodevelopmental syndrome [DS:H02305]
NED and language delay with structural brain abnormalities (NEDLBA)
NED with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW)
NED with brain anomalies and vertebral or cardiac anomalies (NEDBAVC)
NED with cerebellar hypoplasia and spasticity (NEDCHS)
NED with cerebellar atrophy and with seizures (NEDCAS)
NED with epilepsy and hypoplasia of the corpus callosum (NEDEHCC)
NED with nonspecific brain abnormalities and with seizures (NEDBAS)
NED with spastic quadriplegia and brain abnormalities with seizures (NEDSBAS)
NED with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies (NEDSOSB)
NED with progressive spasticity and brain white matter abnormalities (NEDSWMA)
NED with structural brain anomalies and dysmorphic facies (NEDBAF)
NED with visual defects and brain anomalies (NEDVIBA)
NED with variable brain abnormalities (NEDBA)
NED with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM)
NED with midbrain and hindbrain malformations (NEDMHM)
NED and structural brain anomalies with seizures and spasticity (NEDBASS)
NED with alopecia and brain abnormalities (NEDABA)
NED with epilepsy, spasticity, and brain atrophy (NEDESBA)
NED with autistic features and structural brain abnormalities (NEDASB)
NED with seizures, hypotonia, and brain abnormalities (NEDSHBA)
  Supergrp
Syndromic neurodevelopmental disorder [DS:H02459]
Description
Neurodevelopmental disorder (NED) with structural brain abnormalities is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying genetic causes of these diseases have been identified.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the nervous system
   H02470  Neurodevelopmental disorder with structural brain abnormalities
Human diseases in ICD-11 classification [BR:br08403]
 06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A0Y  Other specified neurodevelopmental disorders
    H02470  Neurodevelopmental disorder with structural brain abnormalities
Gene
(NEDLBA) PPP2CA [HSA:5515] [KO:K04382]
(NDAGSCW) RAB11B [HSA:9230] [KO:K07905]
(NEDBAVC) DHX37 [HSA:57647] [KO:K14780]
(NEDCHS) INTS8 [HSA:55656] [KO:K13145]
(NEDCAS) BRAT1 [HSA:221927] [KO:K23112]
(NEDEHCC) LNPK [HSA:80856] [KO:K23292]
(NEDBAS) DLL1 [HSA:28514] [KO:K06051]
(NEDSBAS) WDR45B [HSA:56270] [KO:K22991]
(NEDSOSB) SEC31A [HSA:22872] [KO:K14005]
(NEDSWMA) HPDL [HSA:84842] [KO:K24788]
(NEDBAF) RAC3 [HSA:5881] [KO:K07861]
(NEDVIBA) HK1 [HSA:3098] [KO:K00844]
(NEDBA) MAPK8IP3 [HSA:23162] [KO:K04436]
(NECFM) NACC1 [HSA:112939] [KO:K10486]
(NEDMHM) ARHGEF2 [HSA:9181] [KO:K12791]
(NEDBASS) PTPN23 [HSA:25930] [KO:K18040]
(NEDABA) ODC1 [HSA:4953] [KO:K01581]
(NEDESBA) TRAPPC4 [HSA:51399] [KO:K20303]
(NEDASB) NOVA2 [HSA:4858] [KO:K14944]
(NEDSHBA) GRM7 [HSA:2917] [KO:K04609]
Other DBs
ICD-11: 6A0Y
OMIM: 618354 617807 618731 618571 618056 618090 618709 617977 618651 619026 618577 618547 618443 617393 617523 618890 619075 618741 618859 618922
Reference
  Authors
Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Scott Schwoerer J, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM
  Title
De Novo Mutations Affecting the Catalytic C alpha Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental  Disorders.
  Journal
Am J Hum Genet 104:139-156 (2019)
DOI:10.1016/j.ajhg.2018.12.002
Reference
  Authors
Lamers IJC, Reijnders MRF, Venselaar H, Kraus A, Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, van Beersum SEC, Dusseljee S, Brunner HG, Doherty D, Kleefstra T, Roepman R
  Title
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
  Journal
Am J Hum Genet 101:824-832 (2017)
DOI:10.1016/j.ajhg.2017.09.015
Reference
  Authors
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR
  Title
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
  Journal
Am J Hum Genet 105:302-316 (2019)
DOI:10.1016/j.ajhg.2019.06.001
Reference
  Authors
Krall M, Htun S, Schnur RE, Brooks AS, Baker L, de Alba Campomanes A, Lamont RE, Gripp KW, Schneidman-Duhovny D, Innes AM, Mancini GMS, Slavotinek AM
  Title
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.
  Journal
Eur J Hum Genet 27:582-593 (2019)
DOI:10.1038/s41431-018-0298-9
Reference
  Authors
Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S
  Title
BRAT1 mutations present with a spectrum of clinical severity.
  Journal
Am J Med Genet A 170:2265-73 (2016)
DOI:10.1002/ajmg.a.37783
Reference
  Authors
Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N
  Title
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
  Journal
Am J Hum Genet 105:631-639 (2019)
DOI:10.1016/j.ajhg.2019.07.002
Reference
  Authors
Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R, Abdu U, Flusser H, Birk OS
  Title
SEC31A mutation affects ER homeostasis, causing a neurological syndrome.
  Journal
J Med Genet 56:139-148 (2019)
DOI:10.1136/jmedgenet-2018-105503
Reference
  Authors
Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS
  Title
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
  Journal
Genet Med 21:1021-1026 (2019)
DOI:10.1038/s41436-018-0323-y
Reference
  Authors
Okur V, Cho MT, van Wijk R, van Oirschot B, Picker J, Coury SA, Grange D, Manwaring L, Krantz I, Muraresku CC, Hulick PJ, May H, Pierce E, Place E, Bujakowska K, Telegrafi A, Douglas G, Monaghan KG, Begtrup A, Wilson A, Retterer K, Anyane-Yeboa K, Chung WK
  Title
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
  Journal
Eur J Hum Genet 27:1081-1089 (2019)
DOI:10.1038/s41431-019-0366-9
Reference
  Authors
Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stobe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R
  Title
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
  Journal
Am J Hum Genet 104:203-212 (2019)
DOI:10.1016/j.ajhg.2018.12.008
Reference
  Authors
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V
  Title
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
  Journal
Am J Hum Genet 100:343-351 (2017)
DOI:10.1016/j.ajhg.2016.12.013
Reference
  Authors
Ravindran E, Hu H, Yuzwa SA, Hernandez-Miranda LR, Kraemer N, Ninnemann O, Musante L, Boltshauser E, Schindler D, Hubner A, Reinecker HC, Ropers HH, Birchmeier C, Miller FD, Wienker TF, Hubner C, Kaindl AM
  Title
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.
  Journal
PLoS Genet 13:e1006746 (2017)
DOI:10.1371/journal.pgen.1006746
Reference
  Authors
Smigiel R, Landsberg G, Schilling M, Rydzanicz M, Pollak A, Walczak A, Stodolak A, Stawinski P, Mierzewska H, Sasiadek MM, Gruss OJ, Ploski R
  Title
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.
  Journal
Eur J Hum Genet 26:1502-1511 (2018)
DOI:10.1038/s41431-018-0179-2
Reference
  Authors
Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J
  Title
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
  Journal
Brain 143:112-130 (2020)
DOI:10.1093/brain/awz374
Reference
  Authors
Mattioli F, Hayot G, Drouot N, Isidor B, Courraud J, Hinckelmann MV, Mau-Them FT, Sellier C, Goldman A, Telegrafi A, Boughton A, Gamble C, Moutton S, Quartier A, Jean N, Van Ness P, Grotto S, Nambot S, Douglas G, Si YC, Chelly J, Shad Z, Kaplan E, Dineen R, Golzio C, Charlet-Berguerand N, Mandel JL, Piton A
  Title
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
  Journal
Am J Hum Genet 106:438-452 (2020)
DOI:10.1016/j.ajhg.2020.02.013
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
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