Details of Disease

Disease Name

Intellectual disability, autosomal dominant 40

autosomal dominant non-syndromic intellectual disability 40; mental retardation, autosomal dominant 40; CHAMP1 autosomal dominant non-syndromic intellectual disability; autosomal dominant intellectual disability 40; intellectual disability, autosomal dominant type 40; MRD40; intellectual disability, autosomal dominant 40; mental retardation, autosomal dominant type 40; autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1; autosomal dominant mental retardation 40

Definition

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene.

Disease Hierarchy

DIS1I87P: Intellectual disability, autosomal dominant

DISAI0IH: Intellectual disability, autosomal dominant 40

Disease Identifiers

MONDO ID

MONDO_0014699

UMLS CUI

C5676894

OMIM ID

616579

MedGen ID

1810363

General Information of Disease (ID: DISAI0IH)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 43 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZMYM6	OTB4D7LQ	Limited	Autosomal dominant	[1]
USP27X	OT9LZUX6	Strong	X-linked recessive	[2]
VAMP2	OTZOQ2ZM	Strong	Autosomal dominant	[3]
ZMYND11	OT2A1WLT	Strong	Autosomal dominant	[4]
TUBA1A	OTDVFXEQ	Definitive	Autosomal dominant	[1]
WAC	OTIEQNAL	Definitive	Autosomal dominant	[5]
YY1	OTYO4VOX	Definitive	Autosomal dominant	[6]
CDK16	OTUBXIIT	Limited	X-linked	[12]
DHX34	OT0RCVAH	Limited	Autosomal recessive	[13]
DLL1	OTCKXBQR	Limited	Autosomal dominant	[7]
EPB41L1	OT4CL5DC	Limited	Autosomal dominant	[14]
KIF4A	OT3UWL7D	Limited	X-linked recessive	[15]
KLHL15	OTQ8T3LB	Limited	X-linked recessive	[2]
LAS1L	OTG4I2A1	Limited	X-linked recessive	[2]
LRP2	OTZ6W681	Limited	Autosomal dominant	[8]
MTF1	OTJWVLLF	Limited	Autosomal dominant	[1]
QKI	OTTAUGLB	Limited	Autosomal dominant	[16]
ASH1L	OTUT5NLJ	Strong	Autosomal dominant	[17]
CAMK2A	OTJGX19T	Strong	Autosomal dominant	[18]
DDX6	OTKWXVDY	Strong	Autosomal dominant	[19]
KMT2C	OTC59BCO	Strong	Autosomal dominant	[20]
MED13L	OTSP1W0F	Strong	Autosomal dominant	[21]
RAB11B	OT6GI23M	Strong	Autosomal dominant	[22]
RLIM	OTEBRNHJ	Strong	X-linked recessive	[2]
RORA	OTGQT12P	Strong	Autosomal dominant	[9]
SETD1A	OTVVWRIC	Strong	Autosomal dominant	[1]
SYT1	OTVTPOI6	Strong	Autosomal dominant	[23]
TRIO	OT71X1AK	Strong	Autosomal dominant	[24]
BCL11A	OTI6ZBP6	Definitive	Autosomal dominant	[10]
CAMK2B	OTS9YK3E	Definitive	Autosomal dominant	[18]
CERT1	OTNUCNHX	Definitive	Autosomal dominant	[10]
CHAMP1	OTBGWU86	Definitive	Autosomal dominant	[25]
CTCF	OT8ZB70U	Definitive	Autosomal dominant	[26]
HNRNPR	OT3FITK2	Definitive	Autosomal dominant	[27]
KMT2E	OTYOLNOG	Definitive	Autosomal dominant	[28]
PACS1	OT9TMQL3	Definitive	Autosomal dominant	[29]
PGAP2	OTUW3SAX	Definitive	Autosomal recessive	[1]
POGZ	OT4CYWC1	Definitive	Autosomal dominant	[30]
POU3F3	OT6BBXPD	Definitive	Autosomal dominant	[31]
PPP2R1A	OTYA3GB4	Definitive	Autosomal dominant	[10]
PPP2R5D	OT43TTX0	Definitive	Autosomal dominant	[32]
PURA	OT975ELW	Definitive	Autosomal dominant	[33]
TAOK1	OTFFLV6Q	Definitive	Autosomal dominant	[11]
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⏷ Show the Full List of 43 DOT(s)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DLL1	TT9CFQD	Limited	Autosomal dominant	[7]
LRP2	TTPH1AJ	Limited	Autosomal dominant	[8]
MTF1	TTTQDEO	Limited	Autosomal dominant	[1]
RORA	TT1TYN7	Strong	Autosomal dominant	[9]
BCL11A	TTR61MW	Definitive	Autosomal dominant	[10]
TAOK1	TTQY9DH	Definitive	Autosomal dominant	[11]
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⏷ Show the Full List of 6 DTT(s)

References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
2	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.
3	Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28.
4	A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability. Eur J Med Genet. 2014 Nov-Dec;57(11-12):636-8. doi: 10.1016/j.ejmg.2014.09.002. Epub 2014 Sep 30.
5	De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. Eur J Hum Genet. 2016 Aug;24(8):1145-53. doi: 10.1038/ejhg.2015.282. Epub 2016 Jan 13.
6	A de novo paradigm for mental retardation. Nat Genet. 2010 Dec;42(12):1109-12. doi: 10.1038/ng.712. Epub 2010 Nov 14.
7	Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. Am J Hum Genet. 2019 Sep 5;105(3):631-639. doi: 10.1016/j.ajhg.2019.07.002. Epub 2019 Jul 25.
8	Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3.
9	Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet. 2018 May 3;102(5):744-759. doi: 10.1016/j.ajhg.2018.02.021. Epub 2018 Apr 12.
10	Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015 Mar 12;519(7542):223-8. doi: 10.1038/nature14135. Epub 2014 Dec 24.
11	TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Hum Mutat. 2021 Apr;42(4):445-459. doi: 10.1002/humu.24176. Epub 2021 Mar 1.
12	Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nat Commun. 2022 Nov 2;13(1):6570. doi: 10.1038/s41467-022-34264-y.
13	Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27.
14	Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet. 2011 Mar 11;88(3):306-16. doi: 10.1016/j.ajhg.2011.02.001. Epub 2011 Mar 3.
15	Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. J Med Genet. 2014 Jul;51(7):487-94. doi: 10.1136/jmedgenet-2013-102182. Epub 2014 May 8.
16	Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome. Am J Med Genet A. 2010 Feb;152A(2):319-26. doi: 10.1002/ajmg.a.33202.
17	Excess of rare, inherited truncating mutations in autism. Nat Genet. 2015 Jun;47(6):582-8. doi: 10.1038/ng.3303. Epub 2015 May 11.
18	De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.
19	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.
20	Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21.
21	Redefining the MED13L syndrome. Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11.
22	Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. Am J Hum Genet. 2017 Nov 2;101(5):824-832. doi: 10.1016/j.ajhg.2017.09.015. Epub 2017 Oct 26.
23	SYT1-associated neurodevelopmental disorder: a case series. Brain. 2018 Sep 1;141(9):2576-2591. doi: 10.1093/brain/awy209.
24	Incorporating Functional Information in Tests of Excess De Novo Mutational Load. Am J Hum Genet. 2015 Aug 6;97(2):272-83. doi: 10.1016/j.ajhg.2015.06.013. Epub 2015 Jul 30.
25	Deficiency of CHAMP1, a gene related to intellectual disability, causes impaired neuronal development and a mild behavioural phenotype. Brain Commun. 2022 Aug 30;4(5):fcac220. doi: 10.1093/braincomms/fcac220. eCollection 2022.
26	De novo mutations in the genome organizer CTCF cause intellectual disability. Am J Hum Genet. 2013 Jul 11;93(1):124-31. doi: 10.1016/j.ajhg.2013.05.007. Epub 2013 Jun 6.
27	HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans. Am J Hum Genet. 2019 Jun 6;104(6):1040-1059. doi: 10.1016/j.ajhg.2019.03.024. Epub 2019 May 9.
28	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.
29	Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 7;91(6):1122-7. doi: 10.1016/j.ajhg.2012.10.013. Epub 2012 Nov 15.
30	POGZ-related epilepsy: Case report and review of the literature. Am J Med Genet A. 2019 Aug;179(8):1631-1636. doi: 10.1002/ajmg.a.61206. Epub 2019 May 28.
31	De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. Am J Hum Genet. 2019 Aug 1;105(2):403-412. doi: 10.1016/j.ajhg.2019.06.007. Epub 2019 Jul 11.
32	Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis. J Med Genet. 2023 May;60(5):511-522. doi: 10.1136/jmg-2022-108713. Epub 2022 Oct 10.
33	A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem. J Genet. 2020;99:7.