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 progressive spasticity and brain white matter abnormalities (NEDSWMA)
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 cerebellar atrophy and motor dysfunction (NEDCAM)
NED with spasticity, cataracts, and cerebellar hypoplasia (NEDSCAC)
NED with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB)
NED with hearing loss, seizures, and brain abnormalities (NEDCASB)
  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]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02470  Neurodevelopmental disorder with structural brain abnormalities
Network
nt06512  Chromosome cohesion and segregation
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]
(NEDSWMA) HPDL [HSA:84842] [KO:K24788]
(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]
(NEDCAM) GEMIN5 [HSA:25929] [KO:K13133]
(NEDSCAC) MED27 [HSA:9442] [KO:K15170]
(NEDCASB) SHMT2 [HSA:6472] [KO:K00600]
(NEDHSB) SPATA5 [HSA:166378] [KO:K14575]
Other DBs
ICD-11: LD90.Y
ICD-10: Q87.8
OMIM: 618354 617807 618731 618572 618056 618090 618709 617977 619026 618577 618547 618443 617393 617523 618890 619075 618741 618859 619333 619286 619121 616577
Reference
PMID:30595372 (NEDLBA)
  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
PMID:29106825 (NDAGSCW)
  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
PMID:31256877 (NEDBAVC)
  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
PMID:28542170 (NEDCHS)
  Authors
Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS
  Title
Human mutations in integrator complex subunits link transcriptome integrity to brain development.
  Journal
PLoS Genet 13:e1006809 (2017)
DOI:10.1371/journal.pgen.1006809
Reference
PMID:27282546 (NEDCAS)
  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
PMID:31353024 (NEDBAS)
  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
PMID:30778173 (NEDVIBA)
  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
PMID:30612693 (NEDBA)
  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
PMID:28132692 (NECFM)
  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
PMID:28453519 (NEDMHM)
  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
PMID:29899372 (NEDBASS)
  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
PMID:31794024 (NEDESBA)
  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
PMID:32197073 (NEDASB)
  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
PMID:33443317 (NEDSCAC)
  Authors
Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzalez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y
  Title
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
  Journal
Ann Neurol 89:828-833 (2021)
DOI:10.1002/ana.26019
Reference
PMID:33015733 (NEDCASB)
  Authors
Garcia-Cazorla A, Verdura E, Julia-Palacios N, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schluter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodriguez-Palmero A, Fourcade S, Cogne B, Besnard T, Vincent M, Bezieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch R, Cousin MA, Pujol A
  Title
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
  Journal
Acta Neuropathol 140:971-975 (2020)
DOI:10.1007/s00401-020-02223-w
Reference
PMID:26299366 (NEDHSB)
  Authors
Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK
  Title
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
  Journal
Am J Hum Genet 97:457-64 (2015)
DOI:10.1016/j.ajhg.2015.07.014
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