MCID: RRG006
MIFTS: 26

Rare Genetic Intellectual Disability

Categories: Rare diseases

Aliases & Classifications for Rare Genetic Intellectual Disability

MalaCards integrated aliases for Rare Genetic Intellectual Disability:

Name: Rare Genetic Intellectual Disability 58 6

Classifications:



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Summaries for Rare Genetic Intellectual Disability

MalaCards based summary : Rare Genetic Intellectual Disability is related to alacrima, achalasia, and mental retardation syndrome and mental retardation, autosomal dominant 23. An important gene associated with Rare Genetic Intellectual Disability is ANKRD11 (Ankyrin Repeat Domain 11), and among its related pathways/superpathways are Chromatin organization and Relaxin signaling pathway. Related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Rare Genetic Intellectual Disability

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 27.4 SETD5 MED13L KMT2A KDM5C FOXP1 EP300
2 mental retardation, autosomal dominant 23 10.3 SETD5 ANKRD11
3 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.3 KMT2A CREBBP
4 menke-hennekam syndrome 10.1 EP300 CREBBP
5 thumb deformity 10.1 EP300 CREBBP
6 glass syndrome 10.1 MED13L ARID1B ANKRD11
7 familial isolated trichomegaly 10.1 KMT2A ARID1B ANKRD11
8 human t-cell leukemia virus type 2 10.1 EP300 CREBBP
9 rubinstein-taybi syndrome 1 10.1 EP300 CREBBP
10 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.1 SETD5 DDX3X ANKRD11
11 wiedemann-steiner syndrome 10.1 KMT2A ARID1B
12 congenital disorder of glycosylation, type ig 10.1 FOXP1 EP300
13 leukemia, acute monocytic 10.0 KMT2A EP300 CREBBP
14 cri-du-chat syndrome 10.0
15 kbg syndrome 10.0 SETD5 KMT2A ARID1B ANKRD11
16 giant cell glioblastoma 10.0 MTOR DNMT3A CREBBP
17 human t-cell leukemia virus type 1 9.9 EP300 CREBBP
18 bladder urothelial carcinoma 9.9 MTOR EP300 CREBBP
19 hypoxia 9.8 MTOR KMT2A EP300 CREBBP
20 west syndrome 9.8 SETD5 GNAO1 DNMT3A ALG13
21 weaver syndrome 9.8 KDM5C DNMT3A CHD8
22 otopalatodigital syndrome, type i 9.8 EP300 CREBBP
23 hematologic cancer 9.8 MTOR KMT2A EP300 CREBBP
24 plasma cell neoplasm 9.8 KDM5C DNMT3A CREBBP
25 syndromic intellectual disability 9.7 SETD5 MED13L IRAK1BP1 DDX3X
26 gliosarcoma 9.7 MTOR DNMT3A CREBBP
27 early infantile epileptic encephalopathy 9.7 GNAO1 EP300 CHD8 ALG13
28 sotos syndrome 1 9.7 SETD5 KDM5C DNMT3A CHD8
29 myeloma, multiple 9.6 MTOR KDM5C DNMT3A CREBBP
30 chromosome 16p13.3 deletion syndrome, proximal 9.5 KMT2A KDM5C EP300 DNMT3A CREBBP
31 leukemia, acute myeloid 9.5 MTOR KMT2A EP300 DNMT3A CREBBP
32 medulloblastoma 9.5 MTOR EP300 DNMT3A DDX3X CREBBP
33 kabuki syndrome 1 9.4 KMT2A KDM5C EP300 CREBBP CHD8 ANKRD11
34 cornelia de lange syndrome 9.2 SETD5 MED13L KMT2A EP300 CREBBP CHD8
35 autosomal dominant non-syndromic intellectual disability 8.9 SETD5 MED13L KMT2A KDM5C EP300 CREBBP
36 autism 8.9 SETD5 MTOR KMT2A KDM5C FOXP1 DNMT3A
37 microcephaly 8.8 KMT2A GPT2 GNAO1 EP300 DNMT3A DDX3X
38 disease of mental health 7.9 SETD5 MTOR MED13L KMT2A KDM5C GNAO1

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



Diseases related to Rare Genetic Intellectual Disability

Symptoms & Phenotypes for Rare Genetic Intellectual Disability

MGI Mouse Phenotypes related to Rare Genetic Intellectual Disability:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 ANKRD11 ARID1B CHD8 CREBBP DNMT3A GNAO1
2 growth/size/body region MP:0005378 10.15 ANKRD11 ARID1B CHD8 CREBBP DDX3X DNMT3A
3 cardiovascular system MP:0005385 10.13 ARID1B CHD8 CREBBP DDX3X EP300 GNAO1
4 embryo MP:0005380 10.1 ANKRD11 CHD8 CREBBP DDX3X DNMT3A EP300
5 homeostasis/metabolism MP:0005376 10.07 ANKRD11 ARID1B CHD8 CREBBP DDX3X DNMT3A
6 hematopoietic system MP:0005397 10.06 ANKRD11 ARID1B CHD8 CREBBP DNMT3A EP300
7 mortality/aging MP:0010768 9.97 ANKRD11 ARID1B CHD8 CREBBP DDX3X DNMT3A
8 muscle MP:0005369 9.56 ARID1B CREBBP DDX3X DNMT3A EP300 KMT2A
9 nervous system MP:0003631 9.4 ARID1B CHD8 CREBBP DDX3X DNMT3A EP300

Drugs & Therapeutics for Rare Genetic Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Rare Genetic Intellectual Disability

Genetic Tests for Rare Genetic Intellectual Disability

Anatomical Context for Rare Genetic Intellectual Disability

Publications for Rare Genetic Intellectual Disability

Articles related to Rare Genetic Intellectual Disability:

# Title Authors PMID Year
1
"You have to sit and explain it all, and explain yourself." Mothers' experiences of support services for their offspring with a rare genetic intellectual disability syndrome. 61
21203808 2011

Variations for Rare Genetic Intellectual Disability

ClinVar genetic disease variations for Rare Genetic Intellectual Disability:

6 (show top 50) (show all 57)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNAO1 NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg) SNV Pathogenic 66115 16:56370656-56370656 16:56336744-56336744
2 KMT2A NM_001197104.1(KMT2A):c.3790C>T (p.Arg1264Ter) SNV Pathogenic 522088 rs1555039343 11:118352585-118352585 11:118481870-118481870
3 ALG13 NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) SNV Pathogenic 66086 rs398122394 X:110928268-110928268 X:111685040-111685040
4 ANKRD11 NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs) Duplication Pathogenic 521294 rs878855327 16:89346157-89346158 16:89279749-89279750
5 MTOR NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) SNV Pathogenic 217823 rs863225264 1:11190804-11190804 1:11130747-11130747
6 DDX3X NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) Deletion Pathogenic 207812 rs796052230 X:41205795-41205796 X:41346542-41346543
7 ANKRD11 NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs) Microsatellite Pathogenic 279678 rs886041125 16:89351043-89351047 16:89284635-89284639
8 ANKRD11 NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) Deletion Pathogenic 209131 rs797045027 16:89350549-89350552 16:89284141-89284144
9 KDM5C NM_004187.5(KDM5C):c.3390_3391AG[1] (p.Glu1131fs) Microsatellite Likely pathogenic 817677 rs1602163752 X:53224158-53224159 X:53194976-53194977
10 CREBBP NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter) SNV Likely pathogenic 280284 rs886041518 16:3778807-3778807 16:3728806-3728806
11 CREBBP NM_004380.3(CREBBP):c.5224A>G (p.Met1742Val) SNV Likely pathogenic 978401 16:3779824-3779824 16:3729823-3729823
12 ANKRD11 NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) Deletion Likely pathogenic 265324 rs886039477 16:89349179-89349180 16:89282771-89282772
13 EP300 NM_001429.4(EP300):c.4337A>G (p.Tyr1446Cys) SNV Likely pathogenic 978404 22:41566460-41566460 22:41170456-41170456
14 FOXP1 NM_032682.6(FOXP1):c.1630C>T (p.Arg544Ter) SNV Likely pathogenic 626283 rs1559602356 3:71021728-71021728 3:70972577-70972577
15 KMT2D NM_003482.4(KMT2D):c.15284G>C (p.Cys5095Ser) SNV Likely pathogenic 978379 12:49420465-49420465 12:49026682-49026682
16 MED13L NM_015335.5(MED13L):c.4358A>C (p.His1453Pro) SNV Likely pathogenic 978380 12:116422158-116422158 12:115984353-115984353
17 MED13L NM_015335.4(MED13L):c.2333C>T (p.Ala778Val) SNV Likely pathogenic 452217 rs1555247422 12:116444122-116444122 12:116006317-116006317
18 MED13L NM_015335.5(MED13L):c.987del (p.Ser330fs) Deletion Likely pathogenic 978381 12:116457051-116457051 12:116019246-116019246
19 WAC NM_016628.5(WAC):c.451C>T (p.Arg151Ter) SNV Likely pathogenic 280400 rs886041614 10:28878734-28878734 10:28589805-28589805
20 SETD5 NM_001080517.3(SETD5):c.2552del (p.Leu851fs) Deletion Likely pathogenic 978382 3:9506184-9506184 3:9464500-9464500
21 DNMT3A NM_022552.5(DNMT3A):c.1668G>C (p.Arg556Ser) SNV Likely pathogenic 978383 2:25467207-25467207 2:25244338-25244338
22 KIF7 NM_198525.3(KIF7):c.3016del (p.Glu1006fs) Deletion Likely pathogenic 978384 15:90174821-90174821 15:89631590-89631590
23 RAI1 NM_030665.4(RAI1):c.4545del (p.Cys1516fs) Deletion Likely pathogenic 978385 17:17700805-17700805 17:17797491-17797491
24 ANKRD11 NM_013275.6(ANKRD11):c.6152dup (p.Glu2052fs) Duplication Likely pathogenic 978386 16:89346797-89346798 16:89280389-89280390
25 PTCHD1 NM_173495.3(PTCHD1):c.928G>C (p.Ala310Pro) SNV Likely pathogenic 978387 X:23398284-23398284 X:23380167-23380167
26 ARID1B NM_001374828.1(ARID1B):c.6895del (p.Gln2299fs) Deletion Likely pathogenic 978388 6:157528800-157528800 6:157207666-157207666
27 DDX3X NM_001356.5(DDX3X):c.454dup (p.Ser152fs) Duplication Likely pathogenic 978389 X:41201996-41201997 X:41342743-41342744
28 TLK2 NM_006852.6(TLK2):c.997G>T (p.Glu333Ter) SNV Likely pathogenic 978390 17:60650604-60650604 17:62573243-62573243
29 KMT5B NM_017635.5(KMT5B):c.2095C>T (p.Arg699Ter) SNV Likely pathogenic 978391 11:67925718-67925718 11:68158251-68158251
30 GPT2 NM_133443.4(GPT2):c.269del (p.Val90fs) Deletion Likely pathogenic 978392 16:46931585-46931585 16:46897673-46897673
31 CHD8 NM_001170629.2(CHD8):c.5736del (p.Leu1912fs) Deletion Likely pathogenic 978393 14:21862218-21862218 14:21394059-21394059
32 KMT2A NM_001197104.2(KMT2A):c.3515dup (p.Asn1172fs) Duplication Likely pathogenic 978394 11:118348860-118348861 11:118478145-118478146
33 DDX3X NM_001356.5(DDX3X):c.1424G>T (p.Arg475Leu) SNV Likely pathogenic 978395 X:41205590-41205590 X:41346337-41346337
34 SETD5 NM_001080517.3(SETD5):c.977del (p.Leu326fs) Deletion Likely pathogenic 978396 3:9483829-9483829 3:9442145-9442145
35 ANKRD11 NM_013275.6(ANKRD11):c.3369_3372del (p.Ser1123fs) Deletion Likely pathogenic 978397 16:89349578-89349581 16:89283170-89283173
36 TUBA1A NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) SNV Likely pathogenic 418531 rs1064793286 12:49578981-49578981 12:49185198-49185198
37 SRCAP NM_006662.3(SRCAP):c.7466C>G (p.Ser2489Ter) SNV Likely pathogenic 978398 16:30748827-30748827 16:30737506-30737506
38 IRAK1BP1 NM_017934.7(PHIP):c.2854C>T (p.Arg952Ter) SNV Likely pathogenic 978399 6:79688344-79688344 6:78978627-78978627
39 MTHFR NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter) SNV Likely pathogenic 978400 1:11851305-11851305 1:11791248-11791248
40 KMT2C NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs) Deletion Likely pathogenic 978402 7:151873688-151873689 7:152176603-152176604
41 MED13L NM_015335.5(MED13L):c.1162_1166del (p.Arg388fs) Deletion Likely pathogenic 978403 12:116452923-116452927 12:116015118-116015122
42 FOXP1 NM_001349338.3(FOXP1):c.1321_1324del (p.Asp441fs) Deletion Likely pathogenic 978405 3:71027003-71027006 3:70977852-70977855
43 KMT2B NM_014727.3(KMT2B):c.3565_3566dup (p.Leu1190fs) Duplication Likely pathogenic 978406 19:36216152-36216153 19:35725251-35725252
44 ASH1L NM_018489.3(ASH1L):c.6838G>A (p.Gly2280Arg) SNV Uncertain significance 978407 1:155327498-155327498 1:155357707-155357707
45 CLCN4 NM_001830.4(CLCN4):c.1171C>A (p.Arg391Ser) SNV Uncertain significance 978408 X:10176412-10176412 X:10208372-10208372
46 SYNE1 NM_182961.4(SYNE1):c.15073G>A (p.Val5025Met) SNV Uncertain significance 978409 6:152647651-152647651 6:152326516-152326516
47 IRF2BPL NM_024496.4(IRF2BPL):c.2204G>T (p.Ser735Ile) SNV Uncertain significance 978412 14:77491932-77491932 14:77025589-77025589
48 KANK1 NM_015158.5(KANK1):c.511A>G (p.Thr171Ala) SNV Uncertain significance 978413 9:711277-711277 9:711277-711277
49 KANK1 NM_015158.5(KANK1):c.3772G>T (p.Ala1258Ser) SNV Uncertain significance 781919 rs113362230 9:742280-742280 9:742280-742280
50 TTN-AS1 NM_001267550.2(TTN):c.71581T>C (p.Tyr23861His) SNV Uncertain significance 679528 rs759611506 2:179439278-179439278 2:178574551-178574551

Expression for Rare Genetic Intellectual Disability

Search GEO for disease gene expression data for Rare Genetic Intellectual Disability.

Pathways for Rare Genetic Intellectual Disability

GO Terms for Rare Genetic Intellectual Disability

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.8 SETD5 MTOR MED13L KMT2A KDM5C IRAK1BP1
2 nucleoplasm GO:0005654 9.4 SETD5 MTOR KMT2A KDM5C FOXP1 EP300

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.83 KMT2A EP300 CREBBP CHD8 ARID1B
2 regulation of cellular response to heat GO:1900034 9.43 MTOR EP300 CREBBP
3 chromatin organization GO:0006325 9.43 SETD5 KMT2A KDM5C DNMT3A CHD8 ARID1B
4 positive regulation of transcription of Notch receptor target GO:0007221 9.4 EP300 CREBBP
5 protein acetylation GO:0006473 9.37 EP300 CREBBP
6 positive regulation of transcription by RNA polymerase III GO:0045945 9.32 MTOR CHD8
7 N-terminal peptidyl-lysine acetylation GO:0018076 9.16 EP300 CREBBP
8 rhythmic process GO:0048511 9.02 MTOR KMT2A KDM5C EP300 CREBBP

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.86 KMT2A KDM5C FOXP1 EP300 DNMT3A DDX3X
2 transcription factor binding GO:0008134 9.62 EP300 DNMT3A DDX3X CREBBP
3 transcription coregulator activity GO:0003712 9.58 MED13L EP300 CREBBP
4 transferase activity GO:0016740 9.56 SETD5 MTOR KMT2A GPT2 EP300 DNMT3A
5 acetyltransferase activity GO:0016407 9.37 EP300 CREBBP
6 p53 binding GO:0002039 9.33 EP300 CREBBP CHD8
7 peptide-lysine-N-acetyltransferase activity GO:0061733 8.62 EP300 CREBBP

Sources for Rare Genetic Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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