MRD30
MCID: MNT219
MIFTS: 31

Mental Retardation, Autosomal Dominant 30 (MRD30)

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 30

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 30:

Name: Mental Retardation, Autosomal Dominant 30 57 72 29 6 70
Mrd30 57 12 72
Autosomal Dominant Non-Syndromic Intellectual Disability 30 12 15
Mental Retardation, Autosomal Dominant, Type 30 39
Autosomal Dominant Mental Retardation 30 12

Characteristics:

OMIM®:

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


HPO:

31
mental retardation, autosomal dominant 30:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 30

UniProtKB/Swiss-Prot : 72 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, also known as mrd30, is related to tinea manuum and coffin-siris syndrome 9. An important gene associated with Mental Retardation, Autosomal Dominant 30 is ZMYND11 (Zinc Finger MYND-Type Containing 11), and among its related pathways/superpathways is tRNA Aminoacylation. Related phenotypes are abnormal facial shape and ptosis

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.

More information from OMIM: 616083 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 30

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 30 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 tinea manuum 10.3 MT-TV MT-TM
2 coffin-siris syndrome 9 10.3 MT-ATP8 CIC
3 leukorrhea 10.2 MT-TK MT-TG
4 mitochondrial dna-associated leigh syndrome 10.2 MT-TV MT-TK
5 parkinson disease, mitochondrial 10.2 MT-TT MT-TK
6 mitochondrial dna-associated leigh syndrome and narp 10.2 MT-TV MT-TK
7 retinitis pigmentosa 36 10.2 MT-TV MT-TK
8 lipomatosis, multiple symmetric 10.2 MT-TT MT-TC
9 carbuncle 10.2 MT-TT MT-TH
10 retinitis pigmentosa 32 10.2 MT-TV MT-TK
11 fasciolopsiasis 10.2 MT-TV MT-TT MT-TC
12 retinitis pigmentosa 22 10.2 MT-TV MT-TK
13 retinitis pigmentosa 20 10.1 MT-TV MT-TK
14 hermaphroditism 10.1 MT-TT MT-TH MT-TF
15 thelaziasis 10.0 MT-CYB MT-ATP8
16 retinitis pigmentosa 14 10.0 MT-TV MT-TT MT-TK MT-TG
17 noonan syndrome 2 10.0 MT-TV MT-TH
18 trench fever 10.0 MT-TT MT-TM MT-CYB
19 cardiomyopathy, infantile histiocytoid 10.0 MT-TT MT-CYB MT-ATP8
20 mitochondrial disorders 10.0 MT-TT MT-TM MT-TK MT-TF
21 neuropathy, hereditary sensory, type ie 9.9 MT-TF MECP2
22 chronic progressive external ophthalmoplegia 9.9 MT-TK MT-CYB MT-ATP8
23 dicrocoeliasis 9.8 MT-TT MT-TK MT-TG MT-CYB
24 myasthenic syndrome, congenital, 12 9.8 MT-CYB CLPP
25 distal arthrogryposis 9.8 MT-TQ MT-TK MT-TG MT-TC CLPP
26 endometrial stromal tumor 9.7 MT-TH MT-TG MT-TF MT-CYB
27 mitochondrial encephalomyopathy 9.7 MT-TT MT-TR MT-TK MT-CYB MT-ATP8
28 autoimmune lymphoproliferative syndrome 9.7 MT-TK MT-TH MT-TF MT-CYB
29 retinitis pigmentosa 12 9.7 MT-TV MT-TT MT-TR MT-TK MT-TH MT-TG
30 leber hereditary optic neuropathy, modifier of 9.6 MT-TT MT-CYB MT-ATP8
31 myoclonic epilepsy associated with ragged-red fibers 9.6 MT-TQ MT-TK MT-TH MT-TF MT-CYB
32 parasitic ectoparasitic infectious disease 9.6 MT-TV MT-TQ MT-TM MT-TH MT-CYB MT-ATP8
33 mitochondrial myopathy 9.6 MT-TT MT-TR MT-TM MT-TF MT-CYB MT-ATP8
34 pthirus pubis infestation 9.5 MT-TV MT-TQ MT-TM MT-TH MT-TF MT-CYB
35 lice infestation 9.5 MT-TV MT-TQ MT-TM MT-TH MT-TF MT-CYB
36 lactic acidosis 9.4 MT-TT MT-TQ MT-TM MT-TK MT-TH MT-TF
37 myasthenic syndrome, congenital, 10 9.3 MT-TT MT-TK MT-TH MT-TG MT-TF MT-TC
38 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 9.3 MT-TV MT-TT MT-TR MT-TQ MT-TM MT-TK
39 endometrial stromal sarcoma 9.3 VIM MT-TH MT-TG MT-TF MT-CYB
40 myopathy 9.1 MT-TT MT-TR MT-TQ MT-TM MT-TK MT-TF
41 congenital myasthenic syndrome 9.0 VIM MT-TT MT-TH MT-TG MT-TF MT-TC
42 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 8.8 MT-TV MT-TT MT-TR MT-TQ MT-TM MT-TK

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 30:



Diseases related to Mental Retardation, Autosomal Dominant 30

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 30

Human phenotypes related to Mental Retardation, Autosomal Dominant 30:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 31 frequent (33%) HP:0001999
2 ptosis 31 HP:0000508
3 global developmental delay 31 HP:0001263
4 hypertelorism 31 HP:0000316
5 delayed speech and language development 31 HP:0000750
6 intellectual disability, mild 31 HP:0001256
7 wide mouth 31 HP:0000154
8 aggressive behavior 31 HP:0000718

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
hypertelorism

Head And Neck Mouth:
wide mouth

Head And Neck Face:
facial dysmorphism, variable

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

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
social difficulties

Clinical features from OMIM®:

616083 (Updated 05-Apr-2021)

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

Articles related to Mental Retardation, Autosomal Dominant 30:

# Title Authors PMID Year
1
Refining analyses of copy number variation identifies specific genes associated with developmental delay. 57 6
25217958 2014

Variations for Mental Retardation, Autosomal Dominant 30

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

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZMYND11 NM_006624.5(ZMYND11):c.1246_1247del (p.Glu416fs) Deletion Pathogenic 157553 rs606231268 GRCh37: 10:294293-294294
GRCh38: 10:248353-248354
2 ZMYND11 NM_001330057.1(ZMYND11):c.-125C>T SNV Pathogenic 393552 rs1060499626 GRCh37: 10:225974-225974
GRCh38: 10:180034-180034
3 ZMYND11 NM_006624.5(ZMYND11):c.383del (p.Ser128fs) Deletion Pathogenic 431092 rs1135401771 GRCh37: 10:267241-267241
GRCh38: 10:221301-221301
4 ZMYND11 NM_006624.5(ZMYND11):c.76C>T (p.Arg26Trp) SNV Pathogenic 431123 rs1135401797 GRCh37: 10:226028-226028
GRCh38: 10:180088-180088
5 ZMYND11 NM_006624.7(ZMYND11):c.561del (p.Met187fs) Deletion Pathogenic 157554 rs672601341 GRCh37: 10:283569-283569
GRCh38: 10:237629-237629
6 ZMYND11 NM_006624.5(ZMYND11):c.1756_1758CAG[1] (p.Gln587del) Microsatellite Pathogenic 157550 rs606231266 GRCh37: 10:298357-298359
GRCh38: 10:252417-252419
7 ZMYND11 NM_001370124.1(ZMYND11):c.-33-26860dup Duplication Pathogenic 157551 rs606231267 GRCh37: 10:255917-255918
GRCh38: 10:209977-209978
8 ZMYND11 NM_006624.5(ZMYND11):c.1262G>A (p.Ser421Asn) SNV Pathogenic 225254 rs869320713 GRCh37: 10:294310-294310
GRCh38: 10:248370-248370
9 ZMYND11 NM_006624.5(ZMYND11):c.976C>T (p.Gln326Ter) SNV Pathogenic 157552 rs672601340 GRCh37: 10:292731-292731
GRCh38: 10:246791-246791
10 ZMYND11 NM_006624.5(ZMYND11):c.1798C>T (p.Arg600Trp) SNV Pathogenic/Likely pathogenic 208648 rs797044854 GRCh37: 10:298399-298399
GRCh38: 10:252459-252459
11 ZMYND11 NM_001370100.5(ZMYND11):c.1255A>C (p.Ser419Arg) SNV Likely pathogenic 1029064 GRCh37: 10:294303-294303
GRCh38: 10:248363-248363
12 ZMYND11 NM_001370100.5(ZMYND11):c.1793G>C (p.Cys598Ser) SNV Likely pathogenic 976009 GRCh37: 10:298394-298394
GRCh38: 10:252454-252454
13 ZMYND11 NM_006624.5(ZMYND11):c.1294G>A (p.Glu432Lys) SNV Uncertain significance 373990 rs1057518819 GRCh37: 10:294342-294342
GRCh38: 10:248402-248402
14 ZMYND11 NM_001370100.5(ZMYND11):c.1456C>T (p.His486Tyr) SNV Uncertain significance 973332 GRCh37: 10:294504-294504
GRCh38: 10:248564-248564
15 ZMYND11 NM_001370100.5(ZMYND11):c.1368G>A (p.Gln456=) SNV Uncertain significance 1029065 GRCh37: 10:294416-294416
GRCh38: 10:248476-248476
16 ZMYND11 NM_006624.5(ZMYND11):c.929T>G (p.Phe310Cys) SNV Uncertain significance 521257 rs1554790212 GRCh37: 10:288058-288058
GRCh38: 10:242118-242118
17 ZMYND11 NM_001370100.5(ZMYND11):c.440G>C (p.Ser147Thr) SNV Uncertain significance 1032470 GRCh37: 10:282779-282779
GRCh38: 10:236839-236839
18 ZMYND11 NM_001370100.5(ZMYND11):c.1342_1344del (p.Pro448del) Deletion Benign 931803 GRCh37: 10:294388-294390
GRCh38: 10:248448-248450

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

Pathways related to Mental Retardation, Autosomal Dominant 30 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.57 MT-TV MT-TT MT-TR MT-TQ MT-TM MT-TK

GO Terms for Mental Retardation, Autosomal Dominant 30

Biological processes related to Mental Retardation, Autosomal Dominant 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 social behavior GO:0035176 8.8 TBX1 MECP2 CIC

Sources for Mental Retardation, Autosomal Dominant 30

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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