MRD42
MCID: MNT262
MIFTS: 37

Mental Retardation, Autosomal Dominant 42 (MRD42)

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 42

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 42:

Name: Mental Retardation, Autosomal Dominant 42 56 73 29 6
Mrd42 56 12 73
Autosomal Dominant Non-Syndromic Intellectual Disability 42 12 15
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome 58
Autosomal Dominant Mental Retardation 42 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
variable features


HPO:

31
mental retardation, autosomal dominant 42:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Mental Retardation, Autosomal Dominant 42

UniProtKB/Swiss-Prot : 73 Mental retardation, autosomal dominant 42: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD42 patients manifest global developmental delay commonly accompanied by hypotonia, seizures of various types, ophthalmological manifestations, and poor growth.

MalaCards based summary : Mental Retardation, Autosomal Dominant 42, also known as mrd42, is related to night blindness, congenital stationary, type 1h and charcot-marie-tooth disease, dominant intermediate f. An important gene associated with Mental Retardation, Autosomal Dominant 42 is GNB1 (G Protein Subunit Beta 1), and among its related pathways/superpathways are Sweet Taste Signaling and p70S6K Signaling. Affiliated tissues include eye, and related phenotypes are global developmental delay and generalized hypotonia

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GNB1 on chromosome 1p36.33.

OMIM : 56 Autosomal dominant mental retardation-42 is a neurodevelopmental disorder characterized by global developmental delay and intellectual disability. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by Petrovski et al., 2016). (616973)

Related Diseases for Mental Retardation, Autosomal Dominant 42

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

# Related Disease Score Top Affiliating Genes
1 night blindness, congenital stationary, type 1h 9.1 GNB4 GNB2 GNB1
2 charcot-marie-tooth disease, dominant intermediate f 8.9 GNB4 GNB2 GNB1

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 42

Human phenotypes related to Mental Retardation, Autosomal Dominant 42:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 generalized hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001290
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
5 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
6 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
7 expressive language delay 58 31 frequent (33%) Frequent (79-30%) HP:0002474
8 multifocal epileptiform discharges 58 31 frequent (33%) Frequent (79-30%) HP:0010841
9 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
10 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
11 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
12 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
13 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
14 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
15 focal impaired awareness seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002384
16 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
17 cerebral visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100704
18 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
19 impaired smooth pursuit 58 31 occasional (7.5%) Occasional (29-5%) HP:0007772
20 limb hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002509
21 eeg with generalized epileptiform discharges 58 31 occasional (7.5%) Occasional (29-5%) HP:0011198
22 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
23 pectus excavatum 58 31 very rare (1%) Very rare (<4-1%) HP:0000767
24 overfolded helix 58 31 very rare (1%) Very rare (<4-1%) HP:0000396
25 polymicrogyria 58 31 very rare (1%) Very rare (<4-1%) HP:0002126
26 delayed myelination 58 31 very rare (1%) Very rare (<4-1%) HP:0012448
27 eeg abnormality 58 31 Frequent (79-30%) HP:0002353
28 seizures 58 Frequent (79-30%)
29 microcephaly 58 Excluded (0%)
30 generalized tonic-clonic seizures 58 Occasional (29-5%)
31 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
global developmental delay
limb hypertonia
abnormal eeg
seizures, variable types

Head And Neck Eyes:
nystagmus
strabismus
impaired smooth pursuit
cortical visual impairment (in some patients)

Head And Neck Mouth:
cleft palate (in some patients)

Growth Other:
failure to thrive
poor overall postnatal growth

Muscle Soft Tissue:
hypotonia

Genitourinary Kidneys:
hydronephrosis (in some patients)

Clinical features from OMIM:

616973

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 42

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 42

Genetic Tests for Mental Retardation, Autosomal Dominant 42

Genetic tests related to Mental Retardation, Autosomal Dominant 42:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 42 29 GNB1

Anatomical Context for Mental Retardation, Autosomal Dominant 42

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 42:

40
Eye

Publications for Mental Retardation, Autosomal Dominant 42

Articles related to Mental Retardation, Autosomal Dominant 42:

# Title Authors PMID Year
1
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 6 56
27108799 2016
2
Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. 6 56
25485910 2015
3
GNB1 Encephalopathy 6
32134617 2020

Variations for Mental Retardation, Autosomal Dominant 42

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 42:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
2 GNB1 NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)SNV Pathogenic 224714 rs869312823 1:1737948-1737948 1:1806509-1806509
3 GNB1 NM_002074.5(GNB1):c.227A>G (p.Asp76Gly)SNV Pathogenic/Likely pathogenic 224711 rs869312821 1:1737954-1737954 1:1806515-1806515
4 GNB1 NM_002074.5(GNB1):c.301A>G (p.Met101Val)SNV Pathogenic/Likely pathogenic 224717 rs869312825 1:1735987-1735987 1:1804548-1804548
5 GNB1 NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)SNV Pathogenic/Likely pathogenic 224715 rs752746786 1:1737942-1737942 1:1806503-1806503
6 GNB1 NM_002074.5(GNB1):c.230G>C (p.Gly77Ala)SNV Likely pathogenic 431082 rs1135401746 1:1737951-1737951 1:1806512-1806512
7 GNB1 NM_002074.5(GNB1):c.158G>A (p.Gly53Glu)SNV Likely pathogenic 617622 rs1557898800 1:1747240-1747240 1:1815801-1815801
8 GNB1 NM_002074.5(GNB1):c.34G>A (p.Glu12Lys)SNV Uncertain significance 638348 1:1756859-1756859 1:1825420-1825420

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 42:

73 (show all 16)
# Symbol AA change Variation ID SNP ID
1 GNB1 p.Asp76Gly VAR_076643 rs869312821
2 GNB1 p.Asp76Glu VAR_076644 rs869312822
3 GNB1 p.Gly77Ser VAR_076645 rs758432471
4 GNB1 p.Lys78Arg VAR_076646 rs869312823
5 GNB1 p.Ile80Asn VAR_076647 rs752746786
6 GNB1 p.Ile80Thr VAR_076648 rs752746786
7 GNB1 p.Leu95Pro VAR_076649 rs869312824
8 GNB1 p.Met101Val VAR_076650 rs869312825
9 GNB1 p.Ala326Thr VAR_076651 rs869312826
10 GNB1 p.Arg52Gly VAR_078280
11 GNB1 p.Gly64Val VAR_078281
12 GNB1 p.Ala92Thr VAR_078283
13 GNB1 p.Pro94Ser VAR_078284
14 GNB1 p.Arg96Leu VAR_078285
15 GNB1 p.Ala106Thr VAR_078286
16 GNB1 p.Asp118Gly VAR_078287 rs155319416

Expression for Mental Retardation, Autosomal Dominant 42

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 42.

Pathways for Mental Retardation, Autosomal Dominant 42

Pathways related to Mental Retardation, Autosomal Dominant 42 according to GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 GNB4 GNB2 GNB1
2
Show member pathways
12.77 GNB4 GNB2 GNB1
3
Show member pathways
12.76 GNB4 GNB2 GNB1
4
Show member pathways
12.74 GNB4 GNB2 GNB1
5
Show member pathways
12.72 GNB4 GNB2 GNB1
6
Show member pathways
12.72 GNB4 GNB2 GNB1
7
Show member pathways
12.69 GNB4 GNB2 GNB1
8
Show member pathways
12.67 GNB4 GNB2 GNB1
9
Show member pathways
12.63 GNB4 GNB2 GNB1
10
Show member pathways
12.63 GNB4 GNB2 GNB1
11
Show member pathways
12.62 GNB4 GNB2 GNB1
12
Show member pathways
12.61 GNB4 GNB2 GNB1
13
Show member pathways
12.59 GNB4 GNB2 GNB1
14 12.58 GNB4 GNB2 GNB1
15
Show member pathways
12.55 GNB4 GNB2 GNB1
16
Show member pathways
12.52 GNB4 GNB2 GNB1
17
Show member pathways
12.49 GNB4 GNB2 GNB1
18
Show member pathways
12.43 GNB4 GNB2 GNB1
19
Show member pathways
12.42 GNB4 GNB2 GNB1
20
Show member pathways
12.4 GNB4 GNB2 GNB1
21
Show member pathways
12.35 GNB4 GNB2 GNB1
22
Show member pathways
12.34 GNB4 GNB2 GNB1
23
Show member pathways
12.33 GNB4 GNB2 GNB1
24
Show member pathways
12.3 GNB4 GNB2 GNB1
25
Show member pathways
12.29 GNB4 GNB2 GNB1
26
Show member pathways
12.23 GNB4 GNB2 GNB1
27
Show member pathways
12.2 GNB4 GNB2 GNB1
28 12.19 GNB4 GNB2 GNB1
29
Show member pathways
12.17 GNB4 GNB2 GNB1
30
Show member pathways
12.15 GNB4 GNB2 GNB1
31
Show member pathways
12.13 GNB4 GNB2 GNB1
32
Show member pathways
12.11 GNB4 GNB2 GNB1
33
Show member pathways
12.1 GNB4 GNB2 GNB1
34 12.08 GNB4 GNB2 GNB1
35
Show member pathways
12.07 GNB4 GNB2 GNB1
36
Show member pathways
12.05 GNB4 GNB2 GNB1
37
Show member pathways
12.03 GNB4 GNB2 GNB1
38
Show member pathways
11.96 GNB4 GNB2 GNB1
39
Show member pathways
11.91 GNB4 GNB2 GNB1
40
Show member pathways
11.89 GNB2 GNB1
41 11.87 GNB4 GNB2 GNB1
42
Show member pathways
11.84 GNB2 GNB1
43
Show member pathways
11.84 GNB4 GNB2 GNB1
44
Show member pathways
11.79 GNB4 GNB2 GNB1
45
Show member pathways
11.76 GNB2 GNB1
46 11.74 GNB4 GNB2 GNB1
47 11.68 GNB4 GNB2 GNB1
48 11.65 GNB2 GNB1
49
Show member pathways
11.52 GNB4 GNB2 GNB1
50 11.5 GNB4 GNB2 GNB1

GO Terms for Mental Retardation, Autosomal Dominant 42

Cellular components related to Mental Retardation, Autosomal Dominant 42 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell body GO:0044297 9.16 GNB2 GNB1
2 lysosomal membrane GO:0005765 9.13 GNB4 GNB2 GNB1
3 heterotrimeric G-protein complex GO:0005834 8.8 GNB4 GNB2 GNB1

Biological processes related to Mental Retardation, Autosomal Dominant 42 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein folding GO:0006457 8.8 GNB4 GNB2 GNB1

Molecular functions related to Mental Retardation, Autosomal Dominant 42 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.33 GNB4 GNB2 GNB1
2 GTPase binding GO:0051020 8.96 GNB2 GNB1
3 G-protein gamma-subunit binding GO:0031682 8.8 GNB4 GNB2 GNB1

Sources for Mental Retardation, Autosomal Dominant 42

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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