Details of Disease

Disease Name

Syndromic intellectual disability

syndromic intellectual disability; syndrome associated with intellectual disability

Definition

A intellectual disability that is part of a larger syndrome.

Disease Hierarchy

DISMBNXP: Intellectual disability

DIS6SVEE: Syndromic disease

DISH7SDF: Syndromic intellectual disability

Disease Identifiers

MONDO ID

MONDO_0000508

UMLS CUI

C5680525

MedGen ID

1842178

Orphanet ID

183763

General Information of Disease (ID: DISH7SDF)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 67 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZMYM3	OTMPRZ4P	No Known	X-linked	[1]
ZMIZ1	OT1Q9TX0	Supportive	Autosomal dominant	[2]
WDFY3	OTJAA5UZ	Definitive	Autosomal dominant	[3]
BOD1	OTQL6F4R	Limited	Autosomal recessive	[7]
SOBP	OTI8OO0M	Limited	Autosomal recessive	[3]
ACTL6B	OTO7EJIS	Supportive	Autosomal dominant	[8]
BCORL1	OTPTFQN5	Supportive	Autosomal dominant	[9]
CCDC32	OTPPUFIF	Supportive	Autosomal dominant	[10]
DDX6	OTKWXVDY	Supportive	Autosomal dominant	[11]
DOCK3	OTF3YS2W	Supportive	Autosomal dominant	[12]
DPYSL5	OT6F9T6F	Supportive	Autosomal dominant	[13]
FBXW11	OT2A6RLR	Supportive	Autosomal dominant	[14]
HUWE1	OTFH6BJS	Supportive	Autosomal dominant	[15]
JARID2	OT14UM8H	Supportive	Autosomal dominant	[16]
KDM4B	OT5P1UPY	Supportive	Autosomal dominant	[17]
KMT2E	OTYOLNOG	Supportive	Autosomal dominant	[18]
MADD	OTUFYVGG	Supportive	Autosomal dominant	[19]
MED13	OTP5LEJE	Supportive	Autosomal dominant	[20]
MED27	OT40PZ9R	Supportive	Autosomal dominant	[21]
NTNG1	OTF48IID	Supportive	Autosomal dominant	[22]
NTNG2	OTTY88DL	Supportive	Autosomal dominant	[22]
PSMD12	OTWICA51	Supportive	Autosomal dominant	[23]
PUS7	OTE5AQHJ	Supportive	Autosomal dominant	[24]
RLIM	OTEBRNHJ	Supportive	Autosomal dominant	[25]
SATB1	OTT7SUVW	Supportive	Autosomal dominant	[4]
SLC12A2	OT3ZJ3LH	Supportive	Autosomal dominant	[6]
SVBP	OT2VI301	Supportive	Autosomal dominant	[26]
TANC2	OTDXY7PX	Supportive	Autosomal dominant	[27]
TCF20	OT8LQAOV	Supportive	Autosomal dominant	[28]
TNRC6B	OTGVT0SH	Supportive	Autosomal dominant	[29]
TRAPPC4	OT3THRCA	Supportive	Autosomal dominant	[30]
TRIP12	OT2ORYIH	Supportive	Autosomal dominant	[5]
TRMT1	OTV0WBHX	Supportive	Autosomal dominant	[31]
ACTL6A	OT0EC5BQ	Moderate	Autosomal dominant	[32]
MED23	OTKZQT0R	Moderate	Autosomal recessive	[3]
ANKRD17	OTQ3DYEP	Strong	Autosomal dominant	[3]
NBEA	OTYLY5TY	Strong	Autosomal dominant	[33]
ASXL2	OTNG4E2M	Definitive	Autosomal dominant	[3]
ASXL3	OTNDJWEZ	Definitive	Autosomal dominant	[3]
AUTS2	OTAEXHSC	Definitive	Autosomal dominant	[3]
BPTF	OTD1RZAD	Definitive	Autosomal dominant	[3]
BRD4	OT2Y2TCW	Definitive	Autosomal dominant	[3]
CDK13	OT3P7JF1	Definitive	Autosomal dominant	[3]
CHD4	OTBDEHDP	Definitive	Autosomal dominant	[3]
CRADD	OT02TZ4S	Definitive	Autosomal recessive	[3]
CSNK2A1	OT9T8WQM	Definitive	Autosomal dominant	[3]
CTCF	OT8ZB70U	Definitive	Autosomal dominant	[3]
EIF3F	OTU20K6L	Definitive	Autosomal recessive	[3]
H1-4	OTQ450A3	Definitive	Autosomal dominant	[3]
HNRNPR	OT3FITK2	Definitive	Autosomal dominant	[3]
HOXA1	OTMSOJ7D	Definitive	Autosomal recessive	[3]
KAT6A	OT4TSQLG	Definitive	Autosomal dominant	[3]
KDM6B	OTMZVHSG	Definitive	Autosomal dominant	[3]
KIF1A	OT3JVEGV	Definitive	Autosomal dominant	[3]
KMT2C	OTC59BCO	Definitive	Autosomal dominant	[3]
MED13L	OTSP1W0F	Definitive	Autosomal dominant	[3]
MEIS2	OTG4ADLM	Definitive	Autosomal dominant	[3]
MYT1L	OTV45MAS	Definitive	Autosomal dominant	[3]
NAA15	OT53SIZG	Definitive	Autosomal dominant	[3]
NSD2	OTQ6SW4R	Definitive	Autosomal dominant	[3]
PIGL	OTNAEAZ6	Definitive	Autosomal recessive	[3]
PPM1D	OT8NLZ9D	Definitive	Autosomal dominant	[3]
PPP2R5D	OT43TTX0	Definitive	Autosomal dominant	[3]
PUF60	OTG90DYF	Definitive	Autosomal dominant	[3]
QRICH1	OTPVAX04	Definitive	Autosomal dominant	[3]
TAOK1	OTFFLV6Q	Definitive	Autosomal dominant	[3]
TRIO	OT71X1AK	Definitive	Autosomal dominant	[3]
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⏷ Show the Full List of 67 DOT(s)

This Disease Is Related to 10 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SATB1	TTLFRIC	Supportive	Autosomal dominant	[4]
TRIP12	TTG2CRH	Supportive	Autosomal dominant	[5]
BRD4	TTRA6BO	Definitive	Autosomal dominant	[3]
CDK13	TTRIM0E	Definitive	Autosomal dominant	[3]
CSNK2A1	TTER6YH	Definitive	Autosomal dominant	[3]
KAT6A	TT6O1J0	Definitive	Autosomal dominant	[3]
KDM6B	TTDIJUQ	Definitive	Autosomal dominant	[3]
PIGL	TTQA8DT	Definitive	Autosomal recessive	[3]
PPM1D	TTENJAB	Definitive	Autosomal dominant	[3]
TAOK1	TTQY9DH	Definitive	Autosomal dominant	[3]
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⏷ Show the Full List of 10 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC12A2	DTHKL3Q	Supportive	Autosomal dominant	[6]
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References

1	X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. Orphanet J Rare Dis. 2014 Apr 11;9:49. doi: 10.1186/1750-1172-9-49.
2	ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2019 Feb 7;104(2):319-330. doi: 10.1016/j.ajhg.2018.12.007. Epub 2019 Jan 10.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
4	Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. Am J Hum Genet. 2021 Feb 4;108(2):346-356. doi: 10.1016/j.ajhg.2021.01.007. Epub 2021 Jan 28.
5	Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 Apr;136(4):377-386. doi: 10.1007/s00439-017-1763-1. Epub 2017 Mar 1.
6	SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia. Neurol Genet. 2020 Jul 2;6(4):e478. doi: 10.1212/NXG.0000000000000478. eCollection 2020 Aug.
7	A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability. Clin Genet. 2020 Sep;98(3):288-292. doi: 10.1111/cge.13799.
8	Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. Am J Hum Genet. 2019 May 2;104(5):815-834. doi: 10.1016/j.ajhg.2019.03.022. Epub 2019 Apr 25.
9	Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities. Am J Med Genet A. 2019 May;179(5):870-874. doi: 10.1002/ajmg.a.61118. Epub 2019 Apr 2.
10	Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. Hum Mol Genet. 2020 Jun 3;29(9):1489-1497. doi: 10.1093/hmg/ddaa073.
11	Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. Am J Hum Genet. 2019 Sep 5;105(3):509-525. doi: 10.1016/j.ajhg.2019.07.010. Epub 2019 Aug 15.
12	Variants in DOCK3 cause developmental delay and hypotonia. Eur J Hum Genet. 2019 Aug;27(8):1225-1234. doi: 10.1038/s41431-019-0397-2. Epub 2019 Apr 11.
13	Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. Am J Hum Genet. 2021 May 6;108(5):951-961. doi: 10.1016/j.ajhg.2021.04.004. Epub 2021 Apr 23.
14	De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. Am J Hum Genet. 2019 Sep 5;105(3):640-657. doi: 10.1016/j.ajhg.2019.07.005. Epub 2019 Aug 8.
15	HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27.
16	JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. Genet Med. 2021 Feb;23(2):374-383. doi: 10.1038/s41436-020-00992-z. Epub 2020 Oct 20.
17	Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Am J Hum Genet. 2020 Dec 3;107(6):1170-1177. doi: 10.1016/j.ajhg.2020.11.001. Epub 2020 Nov 23.
18	Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.
19	Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain. 2020 Aug 1;143(8):2437-2453. doi: 10.1093/brain/awaa204.
20	De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Hum Genet. 2018 May;137(5):375-388. doi: 10.1007/s00439-018-1887-y. Epub 2018 May 8.
21	MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 Apr;89(4):828-833. doi: 10.1002/ana.26019. Epub 2021 Feb 8.
22	Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 Nov 7;105(5):1048-1056. doi: 10.1016/j.ajhg.2019.09.025. Epub 2019 Oct 24.
23	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 2;100(2):352-363. doi: 10.1016/j.ajhg.2017.01.003. Epub 2017 Jan 26.
24	PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly. Hum Genet. 2019 Mar;138(3):231-239. doi: 10.1007/s00439-019-01980-3. Epub 2019 Feb 18.
25	X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3.
26	Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia. Genet Med. 2019 Aug;21(8):1790-1796. doi: 10.1038/s41436-018-0415-8. Epub 2019 Jan 4.
27	Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8.
28	Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Mar 25;11(1):16. doi: 10.1186/s13073-019-0630-1.
29	Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD. J Med Genet. 2020 Oct;57(10):717-724. doi: 10.1136/jmedgenet-2019-106470. Epub 2020 Mar 9.
30	Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. Eur J Med Genet. 2020 Jan;63(1):103624. doi: 10.1016/j.ejmg.2019.01.014. Epub 2019 Jan 25.
31	Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability. Am J Med Genet A. 2018 Nov;176(11):2517-2521. doi: 10.1002/ajmg.a.38631. Epub 2018 Oct 5.
32	Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 Oct;38(10):1365-1371. doi: 10.1002/humu.23282. Epub 2017 Jul 10.
33	NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Ann Neurol. 2018 Nov;84(5):788-795. doi: 10.1002/ana.25350. Epub 2018 Oct 25.