MCID: MNT262
MIFTS: 23

Mental Retardation, Autosomal Dominant 42

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 42

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 42:

Name: Mental Retardation, Autosomal Dominant 42 57 75 29 6
Mrd42 57 12 75
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome 59
Autosomal Dominant Non-Syndromic Intellectual Disability 42 12
Autosomal Dominant Mental Retardation 42 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
variable features


HPO:

32
mental retardation, autosomal dominant 42:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 42

UniProtKB/Swiss-Prot : 75 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, is also known as mrd42. An important gene associated with Mental Retardation, Autosomal Dominant 42 is GNB1 (G Protein Subunit Beta 1). Affiliated tissues include eye, and related phenotypes are hydronephrosis and cleft palate

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 : 57 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 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 42

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
strabismus
impaired smooth pursuit
cortical visual impairment (in some patients)

Growth Other:
failure to thrive
poor overall postnatal growth

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

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

Muscle Soft Tissue:
hypotonia

Genitourinary Kidneys:
hydronephrosis (in some patients)


Clinical features from OMIM:

616973

Human phenotypes related to Mental Retardation, Autosomal Dominant 42:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hydronephrosis 32 occasional (7.5%) HP:0000126
2 cleft palate 32 occasional (7.5%) HP:0000175
3 strabismus 32 HP:0000486
4 nystagmus 32 HP:0000639
5 intellectual disability 32 HP:0001249
6 seizures 32 HP:0001250
7 global developmental delay 32 HP:0001263
8 generalized hypotonia 32 HP:0001290
9 failure to thrive 32 HP:0001508
10 eeg abnormality 32 HP:0002353
11 limb hypertonia 32 HP:0002509
12 impaired smooth pursuit 32 HP:0007772
13 cortical visual impairment 32 occasional (7.5%) HP:0100704

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:

41
Eye

Publications for Mental Retardation, Autosomal Dominant 42

Variations for Mental Retardation, Autosomal Dominant 42

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

75 (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

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

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNB1 NM_002074.4(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 GRCh37 Chromosome 1, 1737942: 1737942
2 GNB1 NM_002074.4(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 GRCh38 Chromosome 1, 1806503: 1806503
3 GNB1 NM_002074.4(GNB1): c.301A> G (p.Met101Val) single nucleotide variant Likely pathogenic rs869312825 GRCh37 Chromosome 1, 1735987: 1735987
4 GNB1 NM_002074.4(GNB1): c.301A> G (p.Met101Val) single nucleotide variant Likely pathogenic rs869312825 GRCh38 Chromosome 1, 1804548: 1804548
5 GNB1 NM_002074.4(GNB1): c.239T> A (p.Ile80Asn) single nucleotide variant Pathogenic rs752746786 GRCh37 Chromosome 1, 1737942: 1737942
6 GNB1 NM_002074.4(GNB1): c.239T> A (p.Ile80Asn) single nucleotide variant Pathogenic rs752746786 GRCh38 Chromosome 1, 1806503: 1806503
7 GNB1 NM_002074.4(GNB1): c.233A> G (p.Lys78Arg) single nucleotide variant Pathogenic rs869312823 GRCh38 Chromosome 1, 1806509: 1806509
8 GNB1 NM_002074.4(GNB1): c.233A> G (p.Lys78Arg) single nucleotide variant Pathogenic rs869312823 GRCh37 Chromosome 1, 1737948: 1737948
9 GNB1 NM_002074.4(GNB1): c.227A> G (p.Asp76Gly) single nucleotide variant Pathogenic rs869312821 GRCh38 Chromosome 1, 1806515: 1806515
10 GNB1 NM_002074.4(GNB1): c.227A> G (p.Asp76Gly) single nucleotide variant Pathogenic rs869312821 GRCh37 Chromosome 1, 1737954: 1737954
11 GNB1 NM_002074.4(GNB1): c.230G> C (p.Gly77Ala) single nucleotide variant Likely pathogenic rs1135401746 GRCh38 Chromosome 1, 1806512: 1806512
12 GNB1 NM_002074.4(GNB1): c.230G> C (p.Gly77Ala) single nucleotide variant Likely pathogenic rs1135401746 GRCh37 Chromosome 1, 1737951: 1737951

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

GO Terms for Mental Retardation, Autosomal Dominant 42

Sources for Mental Retardation, Autosomal Dominant 42

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