Syndromic Intellectual Disability disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SYN057 MIFTS: 37	Syndromic Intellectual Disability Categories: Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Syndromic Intellectual Disability

MalaCards integrated aliases for Syndromic Intellectual Disability:

Name: Syndromic Intellectual Disability ¹² ²⁹ ⁶ ¹⁵

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Mental diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0050888

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Summaries for Syndromic Intellectual Disability

Disease Ontology : ¹² An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.

MalaCards based summary : Syndromic Intellectual Disability is related to autosomal dominant non-syndromic intellectual disability and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Syndromic Intellectual Disability is KAT6A (Lysine Acetyltransferase 6A), and among its related pathways/superpathways are Neuroscience and Brain-Derived Neurotrophic Factor (BDNF) signaling pathway. Affiliated tissues include brain, and related phenotypes are behavior/neurological and growth/size/body region

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Related Diseases for Syndromic Intellectual Disability

Diseases in the Syndromic Intellectual Disability family:

Rare Syndromic Intellectual Disability

Diseases related to Syndromic Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 234)

#	Related Disease	Score	Top Affiliating Genes
1	autosomal dominant non-syndromic intellectual disability	33.0	POGZ PHIP KAT6A DYRK1A
2	alacrima, achalasia, and mental retardation syndrome	31.5	TAF6 SYT1 POGZ KAT6A KANSL1 FHIP2A
3	microcephaly	31.2	TELO2 TAF6 POGZ KAT6A FHIP2A EIF2S3
4	autism	31.0	POGZ MAPT KAT6A GRIA1 DYRK1A CTNNB1
5	ohdo syndrome	30.4	KAT6A BRPF1
6	disease of mental health	30.2	SYT1 POGZ MAPT KAT6A KANSL1 GRIA1
7	autosomal recessive non-syndromic intellectual disability	11.6
8	non-syndromic intellectual disability	11.5
9	mental retardation, autosomal dominant 7	11.5
10	non-syndromic x-linked intellectual disability	11.5
11	mental retardation, autosomal dominant 21	11.5
12	mental retardation, autosomal dominant 22	11.5
13	mental retardation, autosomal dominant 10	11.5
14	mental retardation, autosomal dominant 11	11.5
15	mental retardation, autosomal dominant 13	11.5
16	mental retardation, autosomal dominant 23	11.5
17	helsmoortel-van der aa syndrome	11.5
18	mental retardation, autosomal dominant 29	11.5
19	mental retardation, autosomal dominant 30	11.5
20	mental retardation, autosomal dominant 33	11.5
21	mental retardation, autosomal dominant 35	11.5
22	mental retardation, autosomal dominant 36	11.5
23	mental retardation, autosomal dominant 38	11.5
24	mental retardation, autosomal dominant 40	11.5
25	mental retardation, autosomal dominant 41	11.5
26	mental retardation, autosomal dominant 42	11.5
27	mental retardation, autosomal dominant 43	11.5
28	intellectual developmental disorder, autosomal dominant 44, with microcephaly	11.5
29	autosomal dominant non-syndromic intellectual disability 1	11.5
30	autosomal dominant non-syndromic intellectual disability 2	11.5
31	autosomal dominant non-syndromic intellectual disability 3	11.5
32	autosomal dominant non-syndromic intellectual disability 4	11.5
33	autosomal dominant non-syndromic intellectual disability 5	11.5
34	autosomal dominant non-syndromic intellectual disability 6	11.5
35	autosomal dominant non-syndromic intellectual disability 8	11.5
36	autosomal dominant non-syndromic intellectual disability 18	11.5
37	autosomal dominant non-syndromic intellectual disability 19	11.5
38	syngap1-related non-syndromic intellectual disability	11.5
39	bain type of x-linked syndromic intellectual disability	11.4
40	mental retardation, x-linked, syndromic, cabezas type	11.4
41	nescav syndrome	11.4
42	vulto-van silfhout-de vries syndrome	11.4
43	mental retardation, autosomal dominant 26	11.4
44	mental retardation, autosomal dominant 31	11.4
45	arboleda-tham syndrome	11.4
46	mental retardation, autosomal dominant 34	11.4
47	mental retardation, autosomal dominant 39	11.4
48	syndromic x-linked intellectual disability	11.4
49	rare intellectual disability without developmental anomaly	11.3
50	rare syndromic intellectual disability	11.3

Graphical network of the top 20 diseases related to Syndromic Intellectual Disability:

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Symptoms & Phenotypes for Syndromic Intellectual Disability

MGI Mouse Phenotypes related to Syndromic Intellectual Disability:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.25	ARX BRPF1 CNKSR2 CTNNB1 DYRK1A GRIA1
2	growth/size/body region	MP:0005378	10.21	ARX BRPF1 CTNNB1 DYRK1A FHIP2A GRIA1
3	homeostasis/metabolism	MP:0005376	10.13	ARX BRPF1 CTNNB1 FHIP2A GRIA1 KANSL1
4	mortality/aging	MP:0010768	9.97	ARX BRPF1 CTNNB1 DYRK1A KANSL1 KAT6A
5	liver/biliary system	MP:0005370	9.8	CTNNB1 DYRK1A KAT6A NONO PHIP POGZ
6	nervous system	MP:0003631	9.7	ARX BRPF1 CTNNB1 DYRK1A FHIP2A GRIA1
7	normal	MP:0002873	9.23	ARX BRPF1 CTNNB1 GRIA1 KAT6A MAPT

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Drugs & Therapeutics for Syndromic Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Syndromic Intellectual Disability

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Genetic Tests for Syndromic Intellectual Disability

Genetic tests related to Syndromic Intellectual Disability:

#	Genetic test	Affiliating Genes
1	Syndromic Intellectual Disability ²⁹

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Anatomical Context for Syndromic Intellectual Disability

MalaCards organs/tissues related to Syndromic Intellectual Disability:

⁴⁰

Brain

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Publications for Syndromic Intellectual Disability

Articles related to Syndromic Intellectual Disability:

(show top 50) (show all 198)

#	Title	Authors	PMID	Year
1	SYT1-associated neurodevelopmental disorder: a case series. ⁶	Baker K...Raymond FL	30107533	2018
2	Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. ⁶	Harripaul R...Vincent JB	28397838	2018
3	De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. ⁶	Webster E...Chung WK	27900362	2016
4	Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. ⁶	Tham E...Nordgren A	25728777	2015
5	Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability. ⁶¹	Moirangthem A...Phadke SR	33427368	2021
6	Clinical and molecular spectra of BRAF-associated RASopathy. ⁶¹	Lee Y...Lee BH	33040082	2021
7	A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. ⁶¹	White SM...Kernohan KD	33743206	2021
8	50 Years Ago in TheJournalofPediatrics: Syndromic Intellectual Disability: A Never-Ending Genomic Odyssey. ⁶¹	Endrakanti M...Gupta P	33766290	2021
9	Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother. ⁶¹	Longobardi E...Taglialatela M	33799276	2021
10	Non-Syndromic Intellectual Disability and Its Pathways: A Long Noncoding RNA Perspective. ⁶¹	Barros II...Silva WA	33799572	2021
11	Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability. ⁶¹	Taskiran EZ...Utine GE	33739554	2021
12	De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual Disability. ⁶¹	Milone R...Battini R	33807234	2021
13	Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. ⁶¹	Latypova X...Isidor B	33811806	2021
14	Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis. ⁶¹	Rashvand Z...Omrani MD	33400472	2021
15	Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review. ⁶¹	Meira JGC...Leao EKEA	33638286	2021
16	ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy. ⁶¹	Hyder Z...Banka S	33603162	2021
17	Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing. ⁶¹	Mizuguchi T...Matsumoto N	33157260	2021
18	Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. ⁶¹	Melo US...Byers HM	33420346	2021
19	Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. ⁶¹	Dentici ML...Novelli A	33397746	2021
20	Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease. ⁶¹	Bilal Shamsi M...Almontashiri NAM	33500540	2021
21	De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. ⁶¹	Lehalle D...Faivre L	32409512	2020
22	DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. ⁶¹	Meissner LE...Adams DR	33159716	2020
23	Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism. ⁶¹	Kazemi G...Najmabadi H	33356342	2020
24	PPP1R21-related syndromic intellectual disability: Report of an adult patient and review. ⁶¹	Loddo S...Dallapiccola B	32985083	2020
25	A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability. ⁶¹	Hamdan N...Chouery E	32578875	2020
26	HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome. ⁶¹	Reichert SC...Lewandowski R	32335897	2020
27	Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report. ⁶¹	Bader I...Arnesen T	32698785	2020
28	[Syndromic intellectual disability disorder caused by variants in TELO2 or You-Hoover-Fong syndrome]. ⁶¹	Gonzalez Villen R...Gomez Vida JM	32709525	2020
29	ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. ⁶¹	Yates TM...Balasubramanian M	32097528	2020
30	Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies. ⁶¹	Tejada MI...Ibarluzea N	31898314	2020
31	A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family. ⁶¹	Binaafar S...Garshasbi M	31978613	2020
32	De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling. ⁶¹	Liu X...Yu Y	31981384	2020
33	Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature. ⁶¹	Assoum M...Faivre L	31953988	2020
34	Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability. ⁶¹	Daoqi M...Shiyue M	32245427	2020
35	The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome. ⁶¹	Larcher L...Whalen S	31580924	2020
36	A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability. ⁶¹	Maldziene Z...Preiksaitiene E	32299451	2020
37	Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent. ⁶¹	Latchman K...Tekin M	31833199	2020
38	Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. ⁶¹	Li L...Yang XJ	31794431	2020
39	[First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene]. ⁶¹	Sanchez-Soler MJ...Guillen-Navarro E	31147255	2020
40	A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia. ⁶¹	Kurihara M...Tsuji S	31813911	2020
41	Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. ⁶¹	Urreizti R...Balcells S	32041641	2020
42	MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype. ⁶¹	Giliberti A...Mari F	30735726	2020
43	Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder. ⁶¹	Kramer J...Winter B	33719327	2020
44	Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31. ⁶¹	Labonne JDJ...Kim HG	31963867	2020
45	Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis. ⁶¹	Lorenzo Villalba N...Zulfiqar AA	32206646	2020
46	Region and Cell Type Distribution of TCF4 in the Postnatal Mouse Brain. ⁶¹	Kim H...Philpot BD	32765228	2020
47	Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. ⁶¹	Van Bergen NJ...Christodoulou J	31794024	2020
48	Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. ⁶¹	Yan K...Yang XJ	32010779	2020
49	A de novo DDX3X Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review. ⁶¹	Chen Y...Zhou H	32714884	2020
50	Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability. ⁶¹	Thomas E...Scott DA	31687266	2019

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Genes for Syndromic Intellectual Disability

Genes related to Syndromic Intellectual Disability (4 elite genes):

(show top 50) (show all 98)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KAT6A	Lysine Acetyltransferase 6A	Protein Coding	411.69	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	25728777
2	SYT1	Synaptotagmin 1	Protein Coding	410.94	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	30107533
3	CCDC82	Coiled-Coil Domain Containing 82	Protein Coding	406.81	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	28397838
4	TAF6	TATA-Box Binding Protein Associated Factor 6	Protein Coding	406.81	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
5	FHIP2A	FHF Complex Subunit HOOK Interacting Protein 2A	Protein Coding	31.81	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
6	IRAK1BP1	Interleukin 1 Receptor Associated Kinase 1 Binding Protein 1	Protein Coding	31.81	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	27900362
7	PHIP	Pleckstrin Homology Domain Interacting Protein	Protein Coding	31.81	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	27900362
8	PTH2R	Parathyroid Hormone 2 Receptor	Protein Coding	31.81	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
9	EIF2S3	Eukaryotic Translation Initiation Factor 2 Subunit Gamma	Protein Coding	13.54	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	MAPT	Microtubule Associated Protein Tau	Protein Coding	13.3	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
11	KANSL1	KAT8 Regulatory NSL Complex Subunit 1	Protein Coding	13.11	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
12	DYRK1A	Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A	Protein Coding	12.87	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	CTNNB1	Catenin Beta 1	Protein Coding	12.68	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
14	BRPF1	Bromodomain And PHD Finger Containing 1	Protein Coding	12.6	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
15	NONO	Non-POU Domain Containing Octamer Binding	Protein Coding	12.56	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
16	TELO2	Telomere Maintenance 2	Protein Coding	12.34	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
17	ARX	Aristaless Related Homeobox	Protein Coding	12.34	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
18	CNKSR2	Connector Enhancer Of Kinase Suppressor Of Ras 2	Protein Coding	12.27	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
19	POGZ	Pogo Transposable Element Derived With ZNF Domain	Protein Coding	12.24	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
20	GRIA1	Glutamate Ionotropic Receptor AMPA Type Subunit 1	Protein Coding	12.09	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
21	IQSEC2	IQ Motif And Sec7 Domain ArfGEF 2	Protein Coding	11.99	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
22	ATRX	ATRX Chromatin Remodeler	Protein Coding	11.83	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
23	BRWD3	Bromodomain And WD Repeat Domain Containing 3	Protein Coding	11.62	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
24	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	11.59	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
25	TRAPPC4	Trafficking Protein Particle Complex Subunit 4	Protein Coding	11.52	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
26	MED13L	Mediator Complex Subunit 13L	Protein Coding	11.51	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
27	MED25	Mediator Complex Subunit 25	Protein Coding	11.5	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
28	DLG3	Discs Large MAGUK Scaffold Protein 3	Protein Coding	11.45	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
29	STAG1	Stromal Antigen 1	Protein Coding	11.38	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
30	ZNF462	Zinc Finger Protein 462	Protein Coding	11.26	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
31	STXBP1	Syntaxin Binding Protein 1	Protein Coding	11.24	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
32	DDX3X	DEAD-Box Helicase 3 X-Linked	Protein Coding	11.21	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
33	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	11.19	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
34	ZNF407	Zinc Finger Protein 407	Protein Coding	11.14	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
35	CHAMP1	Chromosome Alignment Maintaining Phosphoprotein 1	Protein Coding	11	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
36	SETD5	SET Domain Containing 5	Protein Coding	11	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
37	PHF21A	PHD Finger Protein 21A	Protein Coding	10.89	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
38	SETD1B	SET Domain Containing 1B, Histone Lysine Methyltransferase	Protein Coding	10.86	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
39	CDK5	Cyclin Dependent Kinase 5	Protein Coding	10.84	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
40	SCAPER	S-Phase Cyclin A Associated Protein In The ER	Protein Coding	10.81	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
41	CLCN4	Chloride Voltage-Gated Channel 4	Protein Coding	10.8	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
42	KCNB1	Potassium Voltage-Gated Channel Subfamily B Member 1	Protein Coding	10.77	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
43	KAT8	Lysine Acetyltransferase 8	Protein Coding	10.58	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
44	UBTF	Upstream Binding Transcription Factor	Protein Coding	10.49	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
45	OGT	O-Linked N-Acetylglucosamine (GlcNAc) Transferase	Protein Coding	10.48	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
46	WASHC4	WASH Complex Subunit 4	Protein Coding	10.46	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
47	TAF1	TATA-Box Binding Protein Associated Factor 1	Protein Coding	10.42	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
48	SNRPA	Small Nuclear Ribonucleoprotein Polypeptide A	Protein Coding	10.33	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
49	NHS	NHS Actin Remodeling Regulator	Protein Coding	10.24	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
50	TUSC3	Tumor Suppressor Candidate 3	Protein Coding	10.16	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

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Variations for Syndromic Intellectual Disability

ClinVar genetic disease variations for Syndromic Intellectual Disability:

⁶ (show top 50) (show all 64)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TAF6	NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)	SNV	Pathogenic	180204	rs374993554	GRCh37: 7:99711522-99711522 GRCh38: 7:100113899-100113899
2	KAT6A	NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs)	Duplication	Pathogenic	180678	rs786200952	GRCh37: 8:41791858-41791859 GRCh38: 8:41934340-41934341
3	KAT6A	NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer)	Deletion	Pathogenic	162616	rs786200959	GRCh37: 8:41795009-41795010 GRCh38: 8:41937491-41937492
4	SYT1	NM_005639.3(SYT1):c.1098C>G (p.Asp366Glu)	SNV	Pathogenic	977145		GRCh37: 12:79842733-79842733 GRCh38: 12:79448953-79448953
5	CCDC82	NM_024725.4(CCDC82):c.535C>T (p.Arg179Ter)	SNV	Pathogenic	1048083		GRCh37: 11:96117377-96117377 GRCh38: 11:96384213-96384213
6	IRAK1BP1 , PHIP	NM_017934.7(PHIP):c.3892C>T (p.Arg1298Ter)	SNV	Likely pathogenic	431155	rs759380520	GRCh37: 6:79664960-79664960 GRCh38: 6:78955243-78955243
7	PTH2R	NM_005048.4(PTH2R):c.473C>T (p.Ser158Phe)	SNV	Likely pathogenic	428590	rs1553546045	GRCh37: 2:209307150-209307150 GRCh38: 2:208442425-208442425
8	FHIP2A	NM_020940.4(FHIP2A):c.115G>T (p.Glu39Ter)	SNV	Likely pathogenic	633777	rs1592013653	GRCh37: 10:116590680-116590680 GRCh38: 10:114830921-114830921
9	ADARB1	NM_001112.4(ADARB1):c.1101G>C (p.Lys367Asn)	SNV	Uncertain significance	870449		GRCh37: 21:46602522-46602522 GRCh38: 21:45182607-45182607
10	ADARB1	NM_001112.4(ADARB1):c.1397-354A>G	SNV	Uncertain significance	977164		GRCh37: 21:46604484-46604484 GRCh38: 21:45184569-45184569
11	KANSL1	NM_001193466.2(KANSL1):c.*1551del	Deletion	Uncertain significance	323730	rs767830420	GRCh37: 17:44107291-44107291 GRCh38: 17:46029925-46029925
12	KANSL1	NM_015443.3(KANSL1):c.-90+19C>G	SNV	Uncertain significance	369214	rs1057516026	GRCh37: 17:44270170-44270170 GRCh38: 17:46192804-46192804
13	KANSL1	NM_001193466.2(KANSL1):c.*1103dup	Duplication	Uncertain significance	323744	rs142756815	GRCh37: 17:44107738-44107739 GRCh38: 17:46030372-46030373
14	KANSL1	NM_001193466.2(KANSL1):c.1234_1235dup	Duplication	Uncertain significance	323742	rs140510364	GRCh37: 17:44107606-44107607 GRCh38: 17:46030240-46030241
15	KANSL1	NM_001193466.2(KANSL1):c.*1520dup	Duplication	Uncertain significance	323731	rs67801660	GRCh37: 17:44107321-44107322 GRCh38: 17:46029955-46029956
16	KANSL1	NM_001193466.2(KANSL1):c.*954C>G	SNV	Uncertain significance	323748	rs150500194	GRCh37: 17:44107888-44107888 GRCh38: 17:46030522-46030522
17	KANSL1	NM_001193466.2(KANSL1):c.28_31ACTA[1]	Microsatellite	Uncertain significance	323761	rs767896466	GRCh37: 17:44108807-44108810 GRCh38: 17:46031441-46031444
18	KANSL1	NM_001193466.2(KANSL1):c.*1354dup	Duplication	Uncertain significance	323735	rs67641084	GRCh37: 17:44107487-44107488 GRCh38: 17:46030121-46030122
19	KANSL1 , MAPT	NM_005910.5(MAPT):c.*1039C>T	SNV	Likely benign	323666	rs568260584	GRCh37: 17:44102576-44102576 GRCh38: 17:46025210-46025210
20	KANSL1 , MAPT	NM_005910.5(MAPT):c.*4154T>C	SNV	Likely benign	323729	rs377535401	GRCh37: 17:44105691-44105691 GRCh38: 17:46028325-46028325
21	MAPT , KANSL1	NM_001193466.2(KANSL1):c.*626T>C	SNV	Likely benign	323754	rs533537317	GRCh37: 17:44108216-44108216 GRCh38: 17:46030850-46030850
22	KANSL1 , MAPT	NM_005910.5(MAPT):c.*2956T>C	SNV	Likely benign	323709	rs181844055	GRCh37: 17:44104493-44104493 GRCh38: 17:46027127-46027127
23	KANSL1 , MAPT	NM_005910.5(MAPT):c.*1670C>T	SNV	Likely benign	323681	rs535931288	GRCh37: 17:44103207-44103207 GRCh38: 17:46025841-46025841
24	MAPT , KANSL1	NM_001193466.2(KANSL1):c.*1196T>G	SNV	Likely benign	323743	rs137970866	GRCh37: 17:44107646-44107646 GRCh38: 17:46030280-46030280
25	KANSL1 , MAPT	NM_005910.5(MAPT):c.*3377G>C	SNV	Likely benign	323719	rs540687358	GRCh37: 17:44104914-44104914 GRCh38: 17:46027548-46027548
26	MAPT , KANSL1	NM_001193466.2(KANSL1):c.*1027C>G	SNV	Likely benign	323746	rs11870461	GRCh37: 17:44107815-44107815 GRCh38: 17:46030449-46030449
27	KANSL1 , MAPT	NM_005910.5(MAPT):c.*3810G>A	SNV	Likely benign	323724	rs140613804	GRCh37: 17:44105347-44105347 GRCh38: 17:46027981-46027981
28	MAPT , KANSL1	NM_001193466.2(KANSL1):c.*388G>T	SNV	Likely benign	323757	rs367998611	GRCh37: 17:44108454-44108454 GRCh38: 17:46031088-46031088
29	MAPT , KANSL1	NM_001193466.2(KANSL1):c.34_37del	Deletion	Likely benign	323760	rs373668834	GRCh37: 17:44108805-44108808 GRCh38: 17:46031439-46031442
30	MAPT , KANSL1	NM_001193466.2(KANSL1):c.*1028T>C	SNV	Likely benign	323745	rs375427074	GRCh37: 17:44107814-44107814 GRCh38: 17:46030448-46030448
31	KANSL1 , MAPT	NM_005910.5(MAPT):c.*2167G>A	SNV	Likely benign	323691	rs16940802	GRCh37: 17:44103704-44103704 GRCh38: 17:46026338-46026338
32	KANSL1 , MAPT	NM_005910.5(MAPT):c.*3133A>G	SNV	Likely benign	323716	rs191084195	GRCh37: 17:44104670-44104670 GRCh38: 17:46027304-46027304
33	KANSL1 , MAPT	NM_005910.5(MAPT):c.*3570T>C	SNV	Likely benign	323722	rs567899904	GRCh37: 17:44105107-44105107 GRCh38: 17:46027741-46027741
34	MAPT , KANSL1	NM_001193466.2(KANSL1):c.*217C>T	SNV	Likely benign	323759	rs140200874	GRCh37: 17:44108625-44108625 GRCh38: 17:46031259-46031259
35	KANSL1 , MAPT	NM_005910.5(MAPT):c.*2991C>T	SNV	Likely benign	323712	rs141337757	GRCh37: 17:44104528-44104528 GRCh38: 17:46027162-46027162
36	KANSL1 , MAPT	NM_005910.5(MAPT):c.*1465C>T	SNV	Likely benign	323679	rs189665411	GRCh37: 17:44103002-44103002 GRCh38: 17:46025636-46025636
37	KANSL1 , MAPT	NM_005910.5(MAPT):c.*3435T>C	SNV	Likely benign	323721	rs186977284	GRCh37: 17:44104972-44104972 GRCh38: 17:46027606-46027606
38	KANSL1	NM_001193466.2(KANSL1):c.-442_-440CTC[1]	Microsatellite	Likely benign	323809	rs534448299	GRCh37: 17:44270132-44270134 GRCh38: 17:46192766-46192768
39	KANSL1 , MAPT	NM_005910.5(MAPT):c.*1721C>T	SNV	Likely benign	323682	rs186042163	GRCh37: 17:44103258-44103258 GRCh38: 17:46025892-46025892
40	KANSL1 , MAPT	NM_005910.5(MAPT):c.*2810G>A	SNV	Likely benign	323705	rs2158256	GRCh37: 17:44104347-44104347 GRCh38: 17:46026981-46026981
41	KANSL1 , MAPT	NM_005910.5(MAPT):c.*1047C>T	SNV	Likely benign	323667	rs113815715	GRCh37: 17:44102584-44102584 GRCh38: 17:46025218-46025218
42	KANSL1 , MAPT	NM_005910.5(MAPT):c.*1404T>C	SNV	Likely benign	323677	rs530779128	GRCh37: 17:44102941-44102941 GRCh38: 17:46025575-46025575
43	MAPT , KANSL1	NM_001193466.2(KANSL1):c.*1354del	Deletion	Benign	323736	rs67641084	GRCh37: 17:44107488-44107488 GRCh38: 17:46030122-46030122
44	KANSL1 , MAPT	NM_001123066.3(MAPT):c.1145_1146insT	Insertion	Benign	323672	rs1491446284	GRCh37: 17:44102682-44102683 GRCh38: 17:46025316-46025317
45	MAPT , KANSL1	NM_001193466.2(KANSL1):c.*1328del	Deletion	Benign	323738	rs71665335	GRCh37: 17:44107514-44107514 GRCh38: 17:46030148-46030148
46	KANSL1 , MAPT	NM_005910.5(MAPT):c.*2079C>T	SNV	Benign	323690	rs17652748	GRCh37: 17:44103616-44103616 GRCh38: 17:46026250-46026250
47	KANSL1 , MAPT	NM_005910.5(MAPT):c.*3848A>G	SNV	Benign	323726	rs114213384	GRCh37: 17:44105385-44105385 GRCh38: 17:46028019-46028019
48	MAPT , KANSL1	NM_001193466.2(KANSL1):c.3029C>T (p.Pro1010Leu)	SNV	Benign	323764	rs7220988	GRCh37: 17:44109474-44109474 GRCh38: 17:46032108-46032108
49	MAPT , KANSL1	NM_001193466.2(KANSL1):c.2751C>T (p.Phe917=)	SNV	Benign	323765	rs36076725	GRCh37: 17:44110532-44110532 GRCh38: 17:46033166-46033166
50	KANSL1 , MAPT	NM_005910.5(MAPT):c.*1759T>C	SNV	Benign	323684	rs7687	GRCh37: 17:44103296-44103296 GRCh38: 17:46025930-46025930

Sources

Expression for Syndromic Intellectual Disability

Search GEO for disease gene expression data for Syndromic Intellectual Disability.

Sources

Pathways for Syndromic Intellectual Disability

Pathways related to Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Neuroscience ⁴	11.46	SYT1 MAPT GRIA1 DYRK1A
2	Brain-Derived Neurotrophic Factor (BDNF) signaling pathway ¹	11.29	MAPT GRIA1 CTNNB1

Sources

GO Terms for Syndromic Intellectual Disability

Cellular components related to Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	9.5	TELO2 TAF6 POGZ PHIP NONO MAPT
2	histone acetyltransferase complex	GO:0000123	9.32	KANSL1 BRPF1
3	somatodendritic compartment	GO:0036477	9.26	MAPT GRIA1
4	nuclear periphery	GO:0034399	9.16	TELO2 MAPT
5	MOZ/MORF histone acetyltransferase complex	GO:0070776	8.96	KAT6A BRPF1

Biological processes related to Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of transcription, DNA-templated	GO:0045893	9.55	PHIP KAT6A DYRK1A CTNNB1 BRPF1
2	animal organ development	GO:0048513	8.96	KAT6A CTNNB1
3	regulation of signal transduction by p53 class mediator	GO:1901796	8.8	TAF6 KAT6A BRPF1

Molecular functions related to Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription coactivator activity	GO:0003713	8.92	TAF6 KAT6A DYRK1A CTNNB1

Sources

Sources for Syndromic Intellectual Disability

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia