MRD48
MCID: MNT323
MIFTS: 26

Mental Retardation, Autosomal Dominant 48 (MRD48)

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 48

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 48:

Name: Mental Retardation, Autosomal Dominant 48 57 72 6 17
Autosomal Dominant Mental Retardation 48 12 15
Mrd48 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
de novo mutation


HPO:

31
mental retardation, autosomal dominant 48:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 48

UniProtKB/Swiss-Prot : 72 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, also known as autosomal dominant mental retardation 48, is related to intellectual developmental disorder, autosomal dominant 44, with microcephaly and cri-du-chat syndrome. An important gene associated with Mental Retardation, Autosomal Dominant 48 is RAC1 (Rac Family Small GTPase 1). Affiliated tissues include eye, and related phenotypes are macrocephaly and intellectual disability

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in heterozygous mutation in the RAC1 gene on chromosome 7p22.

More information from OMIM: 617751 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 48

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

# Related Disease Score Top Affiliating Genes
1 intellectual developmental disorder, autosomal dominant 44, with microcephaly 9.7 UBE2QL1 MED10
2 cri-du-chat syndrome 9.6 UBE2QL1 MED10

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 48

Human phenotypes related to Mental Retardation, Autosomal Dominant 48:

31 (show all 32)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 very rare (1%) HP:0000256
2 intellectual disability 31 very rare (1%) HP:0001249
3 microcephaly 31 very rare (1%) HP:0000252
4 feeding difficulties in infancy 31 very rare (1%) HP:0008872
5 stereotypy 31 very rare (1%) HP:0000733
6 polymicrogyria 31 very rare (1%) HP:0002126
7 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
8 recurrent infections 31 very rare (1%) HP:0002719
9 cerebellar vermis hypoplasia 31 very rare (1%) HP:0001320
10 dysgenesis of the cerebellar vermis 31 very rare (1%) HP:0002195
11 enlarged cisterna magna 31 very rare (1%) HP:0002280
12 dilation of lateral ventricles 31 very rare (1%) HP:0006956
13 dilated fourth ventricle 31 very rare (1%) HP:0002198
14 seizure 31 very rare (1%) HP:0001250
15 hypotonia 31 very rare (1%) HP:0001252
16 behavioral abnormality 31 HP:0000708
17 abnormal facial shape 31 HP:0001999
18 sensorineural hearing impairment 31 HP:0000407
19 anteverted nares 31 HP:0000463
20 absent speech 31 HP:0001344
21 low-set ears 31 HP:0000369
22 open mouth 31 HP:0000194
23 highly arched eyebrow 31 HP:0002553
24 prominent nasal bridge 31 HP:0000426
25 hypospadias 31 HP:0000047
26 eczema 31 HP:0000964
27 cerebellar hypoplasia 31 HP:0001321
28 generalized hypotonia 31 HP:0001290
29 abnormality of the pinna 31 HP:0000377
30 long palpebral fissure 31 HP:0000637
31 cerebellar dysplasia 31 HP:0007033
32 low hanging columella 31 HP:0009765

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
cerebellar hypoplasia
hypoplasia of the corpus callosum
cerebellar dysplasia
hypotonia
more
Head And Neck Mouth:
open mouth

Genitourinary External Genitalia Male:
hypospadias

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

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

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 (Updated 20-May-2021)

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

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 48:

40
Eye

Publications for Mental Retardation, Autosomal Dominant 48

Articles related to Mental Retardation, Autosomal Dominant 48:

# Title Authors PMID Year
1
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. 57 6
28886345 2017

Variations for Mental Retardation, Autosomal Dominant 48

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

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAC1 NM_006908.5(RAC1):c.53G>A (p.Cys18Tyr) SNV Pathogenic 445280 rs1554263326 GRCh37: 7:6426860-6426860
GRCh38: 7:6387229-6387229
2 RAC1 NM_006908.5(RAC1):c.190T>G (p.Tyr64Asp) SNV Pathogenic 445283 rs1554263626 GRCh37: 7:6431637-6431637
GRCh38: 7:6392006-6392006
3 RAC1 NM_006908.5(RAC1):c.116A>G (p.Asn39Ser) SNV Pathogenic 445281 rs1554263624 GRCh37: 7:6431563-6431563
GRCh38: 7:6391932-6391932
4 RAC1 NM_006908.5(RAC1):c.151G>A (p.Val51Met) SNV Pathogenic 445284 rs1554263625 GRCh37: 7:6431598-6431598
GRCh38: 7:6391967-6391967
5 RAC1 NM_006908.5(RAC1):c.151G>C (p.Val51Leu) SNV Pathogenic 445285 rs1554263625 GRCh37: 7:6431598-6431598
GRCh38: 7:6391967-6391967
6 RAC1 NM_006908.5(RAC1):c.470G>A (p.Cys157Tyr) SNV Pathogenic 445282 rs1554264268 GRCh37: 7:6441968-6441968
GRCh38: 7:6402337-6402337
7 overlap with 2 genes GRCh37/hg19 7p22.1(chr7:6385256-6431775) copy number loss Pathogenic 625787 GRCh37: 7:6385256-6431775
GRCh38:
8 RAC1 NM_006908.5(RAC1):c.198A>T (p.Arg66Ser) SNV Likely pathogenic 974895 GRCh37: 7:6431645-6431645
GRCh38: 7:6392014-6392014
9 RAC1 NM_006908.5(RAC1):c.168G>C (p.Trp56Cys) SNV Likely pathogenic 1027690 GRCh37: 7:6431615-6431615
GRCh38: 7:6391984-6391984
10 RAC1 NM_006908.5(RAC1):c.372C>G (p.Asp124Glu) SNV Uncertain significance 1033910 GRCh37: 7:6441582-6441582
GRCh38: 7:6401951-6401951
11 RAC1 NM_006908.5(RAC1):c.506T>G (p.Phe169Cys) SNV Uncertain significance 690390 rs1176320808 GRCh37: 7:6442004-6442004
GRCh38: 7:6402373-6402373

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

72
# Symbol AA change Variation ID SNP ID
1 RAC1 p.Cys18Tyr VAR_080454 rs155426332
2 RAC1 p.Asn39Ser VAR_080455 rs155426362
3 RAC1 p.Val51Met VAR_080457 rs155426362
4 RAC1 p.Tyr64Asp VAR_080458 rs155426362
5 RAC1 p.Pro73Leu VAR_080459
6 RAC1 p.Cys157Tyr VAR_080460 rs155426426

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....