KEGG   DISEASE: Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies
Entry
H02460                      Disease                                
Name
Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies
  Subgroup
NED with dysmorphic facies and distal skeletal anomalies (NEDDFSA)
NED with coarse facies and mild distal skeletal abnormalities (NEDCFSA)
NED with dysmorphic facies and distal limb anomalies (NEDDFL)
NED with microcephaly and dismorphic facies (NEDMIDF)
Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED)
Shashi-Pena syndrome (SHAPNS)
Okur-Chung neurodevelopmental syndrome (OCNDS)
Buratti-Harel syndrome (BURHAS)
DEGCAGS syndrome (DEGCAGS)
NED with craniofacial dysmorphism and skeletal defects (NEDCDS)
NED with dysmorphic facies and ischiopubic hypoplasia (NEDFIH)
NED with dysmorphic facies and skeletal and brain abnormalities (NEDDFSB)
NED with hypotonia, dysmorphic facies, skeletal anomalies, and seizures (NEDFSS)
NED with short stature, prominent forehead, and feeding difficulties (NEDSFF)
X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND)
  Supergrp
Neurodevelopmental disorder with dysmorphic facies [DS:H02535]
Syndromic neurodevelopmental disorder [DS:H02459]
Description
Neurodevelopmental disorder (NED) with dysmorphic facies and skeletal anomalies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies and skeletal anomalies. Several underlying genetic causes of these diseases have been identified.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02460  Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06523  Epigenetic regulation by Polycomb complexes
   H02460  Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies
  nt06512  Chromosome cohesion and segregation
   H02460  Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies
Pathway
hsa04310  Wnt signaling pathway
hsa04340  Hedgehog signaling pathway
hsa04120  Ubiquitin mediated proteolysis
Network
nt06512 Chromosome cohesion and segregation
nt06523 Epigenetic regulation by Polycomb complexes
Gene
(NEDDFSA) ZMIZ1 [HSA:57178] [KO:K22403]
(NEDCFSA) KDM6B [HSA:23135] [KO:K11448]
(NEDDFL) BPTF [HSA:2186] [KO:K11728]
(NEDMIDF) SPOP [HSA:8405] [KO:K10523]
(NEDJED) FBXW11 [HSA:23291] [KO:K03362]
(SHAPNS) ASXL2 [HSA:55252] [KO:K11471]
(OCNDS) CSNK2A1 [HSA:1457] [KO:K03097]
(BURHAS) SIAH1 [HSA:6477] [KO:K04506]
(DEGCAGS) ZNF699 [HSA:374879] [KO:K09228]
(NEDCDS) HNRNPH1 [HSA:3187] [KO:K12898]
(NEDFIH) NAE1 [HSA:8883] [KO:K04532]
(NEDDFSB) HNRNPR [HSA:10236] [KO:K13161]
(NEDFSS) TRPM3 [HSA:80036] [KO:K04978]
(NEDSFF) DPH5 [HSA:51611] [KO:K00586]
(MCAND) OTUD5 [HSA:55593] [KO:K12655]
Other DBs
ICD-11: LD90.Y
OMIM: 618659 618505 617755 618828 617190 618914 617062 619314 619488 620083 620210 620073 620224 620070 301056
Reference
PMID:30639322 (NEDDFSA)
  Authors
Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marcais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Ceraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S
  Title
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
  Journal
Am J Hum Genet 104:319-330 (2019)
DOI:10.1016/j.ajhg.2018.12.007
Reference
PMID:31124279 (NEDCFSA)
  Authors
Stolerman ES, Francisco E, Stallworth JL, Jones JR, Monaghan KG, Keller-Ramey J, Person R, Wentzensen IM, McWalter K, Keren B, Heron B, Nava C, Heron D, Kim K, Burton B, Al-Musafri F, O'Grady L, Sahai I, Escobar LF, Meuwissen M, Reyniers E, Kooy F, Lacassie Y, Gunay-Aygun M, Schatz KS, Hochstenbach R, Zwijnenburg PJG, Waisfisz Q, van Slegtenhorst M, Mancini GMS, Louie RJ
  Title
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
  Journal
Am J Med Genet A 179:1276-1286 (2019)
DOI:10.1002/ajmg.a.61173
Reference
PMID:28942966 (NEDDFL)
  Authors
Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL, Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y
  Title
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
  Journal
Am J Hum Genet 101:503-515 (2017)
DOI:10.1016/j.ajhg.2017.08.014
Reference
PMID:32109420 (NEDMIDF)
  Authors
Nabais Sa MJ, El Tekle G, de Brouwer APM, Sawyer SL, Del Gaudio D, Parker MJ, Kanani F, van den Boogaard MH, van Gassen K, Van Allen MI, Wierenga K, Purcarin G, Elias ER, Begtrup A, Keller-Ramey J, Bernasocchi T, van de Wiel L, Gilissen C, Venselaar H, Pfundt R, Vissers LELM, Theurillat JP, de Vries BBA
  Title
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
  Journal
Am J Hum Genet 106:405-411 (2020)
DOI:10.1016/j.ajhg.2020.02.001
Reference
PMID:31402090 (NEDJED)
  Authors
Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, Clokie SJH, Zazo Seco C, Jiang YH, Sorensen KP, Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S, Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Tartaglia M, Chassaing N, Calvas P, Ragge NK
  Title
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
  Journal
Am J Hum Genet 105:640-657 (2019)
DOI:10.1016/j.ajhg.2019.07.005
Reference
PMID:27693232 (SHAPNS)
  Authors
Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkila S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortum F
  Title
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
  Journal
Am J Hum Genet 99:991-999 (2016)
DOI:10.1016/j.ajhg.2016.08.017
Reference
PMID:28725024 (OCNDS)
  Authors
Trinh J, Huning I, Budler N, Hingst V, Lohmann K, Gillessen-Kaesbach G
  Title
A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.
  Journal
J Hum Genet 62:1005-1006 (2017)
DOI:10.1038/jhg.2017.73
Reference
PMID:32430360 (BURHAS)
  Authors
Buratti J, Ji L, Keren B, Lee Y, Booke S, Erdin S, Kim SY, Palculict TB, Meiner V, Chae JH, Woods CG, Tam A, Heron D, Cong F, Harel T
  Title
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.
  Journal
J Med Genet 58:205-212 (2021)
DOI:10.1136/jmedgenet-2019-106335
Reference
PMID:33875846 (DEGCAGS)
  Authors
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Huning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P
  Title
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
  Journal
Genet Med 23:1551-1568 (2021)
DOI:10.1038/s41436-021-01159-0
Reference
PMID:32335897 (NEDCDS)
  Authors
Reichert SC, Li R, A Turner S, van Jaarsveld RH, Massink MPG, van den Boogaard MH, Del Toro M, Rodriguez-Palmero A, Fourcade S, Schluter A, Planas-Serra L, Pujol A, Iascone M, Maitz S, Loong L, Stewart H, De Franco E, Ellard S, Frank J, Lewandowski R
  Title
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
  Journal
Clin Genet 98:91-98 (2020)
DOI:10.1111/cge.13765
Reference
PMID:36608681 (NEDFIH)
  Authors
Muffels IJJ, Schene IF, Rehmann H, Massink MPG, van der Wal MM, Bauder C, Labeur M, Armando NG, Lequin MH, Houben ML, Giltay JC, Haitjema S, Huisman A, Vansenne F, Bluvstein J, Pappas J, Shailee LV, Zarate YA, Mokry M, van Haaften GW, Nieuwenhuis EES, Refojo D, van Wijk F, Fuchs SA, van Hasselt PM
  Title
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
  Journal
Am J Hum Genet 110:146-160 (2023)
DOI:10.1016/j.ajhg.2022.12.003
Reference
PMID:31079900 (NEDDFSB)
  Authors
Duijkers FA, McDonald A, Janssens GE, Lezzerini M, Jongejan A, van Koningsbruggen S, Leeuwenburgh-Pronk WG, Wlodarski MW, Moutton S, Tran-Mau-Them F, Thauvin-Robinet C, Faivre L, Monaghan KG, Smol T, Boute-Benejean O, Ladda RL, Sell SL, Bruel AL, Houtkooper RH, MacInnes AW
  Title
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.
  Journal
Am J Hum Genet 104:1040-1059 (2019)
DOI:10.1016/j.ajhg.2019.03.024
Reference
PMID:32439617 (NEDFSS)
  Authors
de Sainte Agathe JM, Van-Gils J, Lasseaux E, Arveiler B, Lacombe D, Pfirrmann C, Raclet V, Gaston L, Plaisant C, Aupy J, Trimouille A
  Title
Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3.
  Journal
Eur J Med Genet 63:103942 (2020)
DOI:10.1016/j.ejmg.2020.103942
Reference
PMID:35482014 (NEDSFF)
  Authors
Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Horberg J, AlAbdi L, Mayer K, Utkur K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA
  Title
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
  Journal
Genet Med 24:1567-1582 (2022)
DOI:10.1016/j.gim.2022.03.014
Reference
PMID:33131077 (MCAND)
  Authors
Tripolszki K, Sasaki E, Hotakainen R, Kassim AH, Pereira C, Rolfs A, Bauer P, Reardon W, Bertoli-Avella AM
  Title
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.
  Journal
Clin Genet 99:303-308 (2021)
DOI:10.1111/cge.13873
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