MCID: MNT323
MIFTS: 21

Mental Retardation, Autosomal Dominant 48

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 48

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 48:

Name: Mental Retardation, Autosomal Dominant 48 57 75 6
Mrd48 57 75
Autosomal Dominant Mental Retardation 48 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
de novo mutation


HPO:

32
mental retardation, autosomal dominant 48:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 48

UniProtKB/Swiss-Prot : 75 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 microcephaly and macrocephaly

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 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 48

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
dysplastic ears
sensorineural hearing loss (in 1 patient)

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

Head And Neck Mouth:
open mouth

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding

Head And Neck Eyes:
long palpebral fissures
arched eyebrows

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

Human phenotypes related to Mental Retardation, Autosomal Dominant 48:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 very rare (1%) HP:0000252
2 macrocephaly 32 very rare (1%) HP:0000256
3 stereotypy 32 very rare (1%) HP:0000733
4 intellectual disability 32 very rare (1%) HP:0001249
5 seizures 32 very rare (1%) HP:0001250
6 muscular hypotonia 32 very rare (1%) HP:0001252
7 cerebellar vermis hypoplasia 32 very rare (1%) HP:0001320
8 hypoplasia of the corpus callosum 32 very rare (1%) HP:0002079
9 polymicrogyria 32 very rare (1%) HP:0002126
10 dysgenesis of the cerebellar vermis 32 very rare (1%) HP:0002195
11 dilated fourth ventricle 32 very rare (1%) HP:0002198
12 enlarged cisterna magna 32 very rare (1%) HP:0002280
13 dilation of lateral ventricles 32 very rare (1%) HP:0006956
14 feeding difficulties in infancy 32 very rare (1%) HP:0008872

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:

75
# 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 GRCh38 Chromosome 7, 6387229: 6387229
2 RAC1 NM_018890.3(RAC1): c.53G> A (p.Cys18Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 6426860: 6426860
3 RAC1 NM_018890.3(RAC1): c.116A> G (p.Asn39Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 6391932: 6391932
4 RAC1 NM_018890.3(RAC1): c.116A> G (p.Asn39Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 6431563: 6431563
5 RAC1 NM_018890.3(RAC1): c.527G> A (p.Cys176Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 6402337: 6402337
6 RAC1 NM_018890.3(RAC1): c.527G> A (p.Cys176Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 6441968: 6441968
7 RAC1 NM_018890.3(RAC1): c.190T> G (p.Tyr64Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 6431637: 6431637
8 RAC1 NM_018890.3(RAC1): c.190T> G (p.Tyr64Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 6392006: 6392006
9 RAC1 NM_018890.3(RAC1): c.151G> A (p.Val51Met) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 6431598: 6431598
10 RAC1 NM_018890.3(RAC1): c.151G> A (p.Val51Met) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 6391967: 6391967
11 RAC1 NM_018890.3(RAC1): c.151G> C (p.Val51Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 6391967: 6391967
12 RAC1 NM_018890.3(RAC1): c.151G> C (p.Val51Leu) single nucleotide variant Pathogenic 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

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