MCID: MNT219
MIFTS: 23

Mental Retardation, Autosomal Dominant 30

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Fetal diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Skin diseases, Gastrointestinal diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 30

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 30:

Name: Mental Retardation, Autosomal Dominant 30 57 75 29 6 73
Mrd30 57 12 75
Autosomal Dominant Non-Syndromic Intellectual Disability 30 12
Mental Retardation, Autosomal Dominant, Type 30 40
Autosomal Dominant Mental Retardation 30 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
mental retardation, autosomal dominant 30:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 30

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 30: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD30 patients manifest mild intellectual disability and subtle facial dysmorphisms, including hypertelorism, ptosis, and a wide mouth.

MalaCards based summary : Mental Retardation, Autosomal Dominant 30, is also known as mrd30. An important gene associated with Mental Retardation, Autosomal Dominant 30 is ZMYND11 (Zinc Finger MYND-Type Containing 11). Related phenotypes are wide mouth and hypertelorism

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ZMYND11 on chromosome 10p15.3.

Description from OMIM: 616083

Related Diseases for Mental Retardation, Autosomal Dominant 30

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
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 Dominant 18
Mental Retardation, Autosomal Dominant 19 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 24 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 27 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 Dominant 32 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49 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 55 Mental Retardation, Autosomal Dominant 44
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 Dominant 49
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 Autosomal Dominant Mental Retardation 55
Autosomal Dominant Mental Retardation 61

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 30

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
facial dysmorphism, variable

Head And Neck Mouth:
wide mouth

Neurologic Behavioral Psychiatric Manifestations:
social difficulties
aggressive behavior

Head And Neck Eyes:
hypertelorism
ptosis

Neurologic Central Nervous System:
mental retardation, mild
global developmental delay
speech delay (in all patients)


Clinical features from OMIM:

616083

Human phenotypes related to Mental Retardation, Autosomal Dominant 30:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 wide mouth 32 HP:0000154
2 hypertelorism 32 HP:0000316
3 ptosis 32 HP:0000508
4 aggressive behavior 32 HP:0000718
5 delayed speech and language development 32 HP:0000750
6 intellectual disability, mild 32 HP:0001256
7 global developmental delay 32 HP:0001263
8 abnormal facial shape 32 frequent (33%) HP:0001999

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 30

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 30

Genetic Tests for Mental Retardation, Autosomal Dominant 30

Genetic tests related to Mental Retardation, Autosomal Dominant 30:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 30 29 ZMYND11

Anatomical Context for Mental Retardation, Autosomal Dominant 30

Publications for Mental Retardation, Autosomal Dominant 30

Variations for Mental Retardation, Autosomal Dominant 30

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 30:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZMYND11 NM_006624.5(ZMYND11): c.1759_1761delCAG (p.Gln587del) deletion Pathogenic rs606231266 GRCh37 Chromosome 10, 298360: 298362
2 ZMYND11 NM_006624.5(ZMYND11): c.1759_1761delCAG (p.Gln587del) deletion Pathogenic rs606231266 GRCh38 Chromosome 10, 252420: 252422
3 ZMYND11 NM_006624.5(ZMYND11): c.206dupT (p.Thr70Asnfs) duplication Pathogenic rs606231267 GRCh37 Chromosome 10, 255918: 255918
4 ZMYND11 NM_006624.5(ZMYND11): c.206dupT (p.Thr70Asnfs) duplication Pathogenic rs606231267 GRCh38 Chromosome 10, 209978: 209978
5 ZMYND11 NM_006624.5(ZMYND11): c.976C> T (p.Gln326Ter) single nucleotide variant Pathogenic rs672601340 GRCh37 Chromosome 10, 292731: 292731
6 ZMYND11 NM_006624.5(ZMYND11): c.976C> T (p.Gln326Ter) single nucleotide variant Pathogenic rs672601340 GRCh38 Chromosome 10, 246791: 246791
7 ZMYND11 NM_006624.5(ZMYND11): c.1246_1247delGA (p.Glu416Serfs) deletion Pathogenic rs606231268 GRCh37 Chromosome 10, 294294: 294295
8 ZMYND11 NM_006624.5(ZMYND11): c.1246_1247delGA (p.Glu416Serfs) deletion Pathogenic rs606231268 GRCh38 Chromosome 10, 248354: 248355
9 ZMYND11 NM_006624.5(ZMYND11): c.561delG (p.Met187Ilefs) deletion Pathogenic rs672601341 GRCh37 Chromosome 10, 283569: 283569
10 ZMYND11 NM_006624.5(ZMYND11): c.561delG (p.Met187Ilefs) deletion Pathogenic rs672601341 GRCh38 Chromosome 10, 237629: 237629
11 ZMYND11 NM_001202468.1(ZMYND11): c.1262G> A (p.Ser421Asn) single nucleotide variant Likely pathogenic rs869320713 GRCh37 Chromosome 10, 294310: 294310
12 ZMYND11 NM_001202468.1(ZMYND11): c.1262G> A (p.Ser421Asn) single nucleotide variant Likely pathogenic rs869320713 GRCh38 Chromosome 10, 248370: 248370
13 ZMYND11 NM_006624.5(ZMYND11): c.22C> T (p.Arg8Ter) single nucleotide variant Pathogenic rs1060499626 GRCh37 Chromosome 10, 225974: 225974
14 ZMYND11 NM_006624.5(ZMYND11): c.22C> T (p.Arg8Ter) single nucleotide variant Pathogenic rs1060499626 GRCh38 Chromosome 10, 180034: 180034
15 ZMYND11 NM_006624.5(ZMYND11): c.383delC (p.Ser128Leufs) deletion Pathogenic rs1135401771 GRCh37 Chromosome 10, 267241: 267241
16 ZMYND11 NM_006624.5(ZMYND11): c.383delC (p.Ser128Leufs) deletion Pathogenic rs1135401771 GRCh38 Chromosome 10, 221301: 221301
17 ZMYND11 NM_006624.5(ZMYND11): c.76C> T (p.Arg26Trp) single nucleotide variant Pathogenic rs1135401797 GRCh38 Chromosome 10, 180088: 180088
18 ZMYND11 NM_006624.5(ZMYND11): c.76C> T (p.Arg26Trp) single nucleotide variant Pathogenic rs1135401797 GRCh37 Chromosome 10, 226028: 226028

Expression for Mental Retardation, Autosomal Dominant 30

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 30.

Pathways for Mental Retardation, Autosomal Dominant 30

GO Terms for Mental Retardation, Autosomal Dominant 30

Sources for Mental Retardation, Autosomal Dominant 30

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69 SNOMED-CT via HPO
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