MRD48
MCID: MNT323
MIFTS: 21

Mental Retardation, Autosomal Dominant 48 (MRD48)

Categories: Bone diseases, Cardiovascular diseases, 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 48

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 48:

Name: Mental Retardation, Autosomal Dominant 48 58 76 6 17
Mrd48 58 76
Autosomal Dominant Mental Retardation 48 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
de novo mutation


HPO:

33
mental retardation, autosomal dominant 48:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 48

UniProtKB/Swiss-Prot : 76 Mental retardation, autosomal dominant 48: 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. MRD48 patients manifest global developmental delay and moderate to severe intellectual disability.

MalaCards based summary : Mental Retardation, Autosomal Dominant 48, is also known as mrd48. An important gene associated with Mental Retardation, Autosomal Dominant 48 is RAC1 (Rac Family Small GTPase 1). Related phenotypes are macrocephaly and intellectual disability

Description from OMIM: 617751

Related Diseases for Mental Retardation, Autosomal Dominant 48

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 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
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

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 48

Human phenotypes related to Mental Retardation, Autosomal Dominant 48:

33 (show all 28)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 very rare (1%) HP:0000256
2 intellectual disability 33 very rare (1%) HP:0001249
3 seizures 33 very rare (1%) HP:0001250
4 muscular hypotonia 33 very rare (1%) HP:0001252
5 microcephaly 33 very rare (1%) HP:0000252
6 feeding difficulties in infancy 33 very rare (1%) HP:0008872
7 stereotypy 33 very rare (1%) HP:0000733
8 polymicrogyria 33 very rare (1%) HP:0002126
9 hypoplasia of the corpus callosum 33 very rare (1%) HP:0002079
10 dysgenesis of the cerebellar vermis 33 very rare (1%) HP:0002195
11 cerebellar vermis hypoplasia 33 very rare (1%) HP:0001320
12 dilated fourth ventricle 33 very rare (1%) HP:0002198
13 dilation of lateral ventricles 33 very rare (1%) HP:0006956
14 enlarged cisterna magna 33 very rare (1%) HP:0002280
15 low-set ears 33 HP:0000369
16 behavioral abnormality 33 HP:0000708
17 abnormal facial shape 33 HP:0001999
18 sensorineural hearing impairment 33 HP:0000407
19 anteverted nares 33 HP:0000463
20 absent speech 33 HP:0001344
21 abnormality of the pinna 33 HP:0000377
22 prominent nasal bridge 33 HP:0000426
23 cerebellar hypoplasia 33 HP:0001321
24 highly arched eyebrow 33 HP:0002553
25 long palpebral fissure 33 HP:0000637
26 generalized hypotonia 33 HP:0001290
27 cerebellar dysplasia 33 HP:0007033
28 low hanging columella 33 HP:0009765

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
dysplastic ears
sensorineural hearing loss (in 1 patient)

Head And Neck Nose:
prominent nasal bridge
prominent columella
upturned nose

Head And Neck Mouth:
open mouth

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding

Head And Neck Eyes:
arched eyebrows
long palpebral fissures

Head And Neck Face:
dysmorphic facial features, variable
philtrum abnormalities

Neurologic Central Nervous System:
intellectual disability
cerebellar hypoplasia
hypoplasia of the corpus callosum
cerebellar dysplasia
hypotonia
more
Genitourinary External Genitalia Male:
hypospadias

Skin Nails Hair Skin:
eczema

Neurologic Behavioral Psychiatric Manifestations:
stereotypic movements
behavioral problems

Immunology:
recurrent infections (in some patients)

Head And Neck Head:
microcephaly (in some patients)
macrocephaly (in some patients)

Cardiovascular Heart:
cardiac abnormalities, variable (in some patients)

Clinical features from OMIM:

617751

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 48

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 48

Genetic Tests for Mental Retardation, Autosomal Dominant 48

Anatomical Context for Mental Retardation, Autosomal Dominant 48

Publications for Mental Retardation, Autosomal Dominant 48

Variations for Mental Retardation, Autosomal Dominant 48

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 48:

76
# Symbol AA change Variation ID SNP ID
1 RAC1 p.Cys18Tyr VAR_080454
2 RAC1 p.Asn39Ser VAR_080455
3 RAC1 p.Val51Met VAR_080457
4 RAC1 p.Tyr64Asp VAR_080458
5 RAC1 p.Pro73Leu VAR_080459
6 RAC1 p.Cys157Tyr VAR_080460

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 48:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAC1 NM_018890.3(RAC1): c.53G> A (p.Cys18Tyr) single nucleotide variant Pathogenic rs1554263326 GRCh38 Chromosome 7, 6387229: 6387229
2 RAC1 NM_018890.3(RAC1): c.53G> A (p.Cys18Tyr) single nucleotide variant Pathogenic rs1554263326 GRCh37 Chromosome 7, 6426860: 6426860
3 RAC1 NM_018890.3(RAC1): c.116A> G (p.Asn39Ser) single nucleotide variant Pathogenic rs1554263624 GRCh38 Chromosome 7, 6391932: 6391932
4 RAC1 NM_018890.3(RAC1): c.116A> G (p.Asn39Ser) single nucleotide variant Pathogenic rs1554263624 GRCh37 Chromosome 7, 6431563: 6431563
5 RAC1 NM_018890.3(RAC1): c.527G> A (p.Cys176Tyr) single nucleotide variant Likely pathogenic rs1554264268 GRCh38 Chromosome 7, 6402337: 6402337
6 RAC1 NM_018890.3(RAC1): c.527G> A (p.Cys176Tyr) single nucleotide variant Likely pathogenic rs1554264268 GRCh37 Chromosome 7, 6441968: 6441968
7 RAC1 NM_018890.3(RAC1): c.190T> G (p.Tyr64Asp) single nucleotide variant Pathogenic rs1554263626 GRCh37 Chromosome 7, 6431637: 6431637
8 RAC1 NM_018890.3(RAC1): c.190T> G (p.Tyr64Asp) single nucleotide variant Pathogenic rs1554263626 GRCh38 Chromosome 7, 6392006: 6392006
9 RAC1 NM_018890.3(RAC1): c.151G> A (p.Val51Met) single nucleotide variant Pathogenic rs1554263625 GRCh37 Chromosome 7, 6431598: 6431598
10 RAC1 NM_018890.3(RAC1): c.151G> A (p.Val51Met) single nucleotide variant Pathogenic rs1554263625 GRCh38 Chromosome 7, 6391967: 6391967
11 RAC1 NM_018890.3(RAC1): c.151G> C (p.Val51Leu) single nucleotide variant Pathogenic rs1554263625 GRCh38 Chromosome 7, 6391967: 6391967
12 RAC1 NM_018890.3(RAC1): c.151G> C (p.Val51Leu) single nucleotide variant Pathogenic rs1554263625 GRCh37 Chromosome 7, 6431598: 6431598

Expression for Mental Retardation, Autosomal Dominant 48

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 48.

Pathways for Mental Retardation, Autosomal Dominant 48

GO Terms for Mental Retardation, Autosomal Dominant 48

Sources for Mental Retardation, Autosomal Dominant 48

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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34 ICD10
35 ICD10 via Orphanet
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45 MeSH
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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