MRD11
MCID: MNT184
MIFTS: 24

Mental Retardation, Autosomal Dominant 11 (MRD11)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 11

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 11:

Name: Mental Retardation, Autosomal Dominant 11 57 72 29 13 6 70
Mrd11 57 12 72
Autosomal Dominant Non-Syndromic Intellectual Disability 11 12 15
Mental Retardation, Autosomal Dominant, Type 11 39
Autosomal Dominant Mental Retardation 11 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
limited clinical information provided on 1 male patient


HPO:

31
mental retardation, autosomal dominant 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070041
OMIM® 57 614257
OMIM Phenotypic Series 57 PS156200
MeSH 44 D008607
MedGen 41 C3280285
SNOMED-CT via HPO 68 263681008 40700009
UMLS 70 C3280285

Summaries for Mental Retardation, Autosomal Dominant 11

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 11: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, Autosomal Dominant 11, also known as mrd11, is related to autosomal dominant non-syndromic intellectual disability. An important gene associated with Mental Retardation, Autosomal Dominant 11 is EPB41L1 (Erythrocyte Membrane Protein Band 4.1 Like 1). Affiliated tissues include brain, and related phenotypes are intellectual disability, severe and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EPB41L1 on chromosome 20q11.23.

More information from OMIM: 614257 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 11

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Recessive 18 Mental Retardation, Autosomal Dominant 10
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 13
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Dominant 41
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43
Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60
Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46
Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Diseases related to Mental Retardation, Autosomal Dominant 11 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 9.5 SFMBT1 EPB41L1

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 11

Human phenotypes related to Mental Retardation, Autosomal Dominant 11:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 31 very rare (1%) HP:0010864

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
mental retardation, severe
normal brain mri

Clinical features from OMIM®:

614257 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Mental Retardation, Autosomal Dominant 11 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.28 OPN1LW
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-124 9.28 OPN1LW
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.28 EPB41L1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.28 OPN1LW
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-192 9.28 OPN1LW
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.28 OPN1LW
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.28 EPB41L1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.28 OPN1LW
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.28 OPN1LW

MGI Mouse Phenotypes related to Mental Retardation, Autosomal Dominant 11:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.8 EPB41L1 NR2F2 RUNX3

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 11

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 11

Genetic Tests for Mental Retardation, Autosomal Dominant 11

Genetic tests related to Mental Retardation, Autosomal Dominant 11:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 11 29 EPB41L1

Anatomical Context for Mental Retardation, Autosomal Dominant 11

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 11:

40
Brain

Publications for Mental Retardation, Autosomal Dominant 11

Articles related to Mental Retardation, Autosomal Dominant 11:

# Title Authors PMID Year
1
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 6 57
21376300 2011
2
Regulation of AMPA receptor extrasynaptic insertion by 4.1N, phosphorylation and palmitoylation. 6
19503082 2009
3
Regulation of AMPA receptor GluR1 subunit surface expression by a 4. 1N-linked actin cytoskeletal association. 6
11050113 2000
4
Mercury volatilization by R factor systems in Escherichia coli isolated from aquatic environments of India. 61
15057474 2004

Variations for Mental Retardation, Autosomal Dominant 11

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 11:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EPB41L1 NM_012156.2(EPB41L1):c.2560C>T (p.Pro854Ser) SNV Pathogenic 30281 rs1569376434 GRCh37: 20:34810239-34810239
GRCh38: 20:36222317-36222317
2 EPB41L1 NM_012156.2(EPB41L1):c.1844G>C (p.Ser615Thr) SNV Uncertain significance 561007 rs1569330133 GRCh37: 20:34797585-34797585
GRCh38: 20:36209663-36209663
3 EPB41L1 NM_012156.2(EPB41L1):c.2207T>C (p.Val736Ala) SNV Uncertain significance 931461 GRCh37: 20:34802301-34802301
GRCh38: 20:36214379-36214379
4 EPB41L1 NM_012156.2(EPB41L1):c.1892G>T (p.Ser631Ile) SNV Uncertain significance 1027767 GRCh37: 20:34797633-34797633
GRCh38: 20:36209711-36209711

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 11:

72
# Symbol AA change Variation ID SNP ID
1 EPB41L1 p.Pro854Ser VAR_066600 rs156937643

Expression for Mental Retardation, Autosomal Dominant 11

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 11.

Pathways for Mental Retardation, Autosomal Dominant 11

GO Terms for Mental Retardation, Autosomal Dominant 11

Sources for Mental Retardation, Autosomal Dominant 11

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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