MRD40
MCID: MNT242
MIFTS: 27

Mental Retardation, Autosomal Dominant 40 (MRD40)

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 40

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 40:

Name: Mental Retardation, Autosomal Dominant 40 58 76 30 6
Mrd40 58 12 76
Autosomal Dominant Non-Syndromic Intellectual Disability 40 12
Autosomal Dominant Mental Retardation 40 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset at birth


HPO:

33
mental retardation, autosomal dominant 40:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 40

UniProtKB/Swiss-Prot : 76 Mental retardation, autosomal dominant 40: 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.

MalaCards based summary : Mental Retardation, Autosomal Dominant 40, is also known as mrd40. An important gene associated with Mental Retardation, Autosomal Dominant 40 is CHAMP1 (Chromosome Alignment Maintaining Phosphoprotein 1). Affiliated tissues include skin, bone and eye, and related phenotypes are microcephaly and low-set ears

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene (616327) on chromosome 13q34.

Description from OMIM: 616579

Related Diseases for Mental Retardation, Autosomal Dominant 40

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 40

Human phenotypes related to Mental Retardation, Autosomal Dominant 40:

33 (show all 25)
# Description HPO Frequency HPO Source Accession
1 microcephaly 33 occasional (7.5%) HP:0000252
2 low-set ears 33 HP:0000369
3 high palate 33 HP:0000218
4 intellectual disability 33 HP:0001249
5 global developmental delay 33 HP:0001263
6 recurrent respiratory infections 33 HP:0002205
7 gastroesophageal reflux 33 HP:0002020
8 stereotypy 33 HP:0000733
9 feeding difficulties 33 HP:0011968
10 strabismus 33 HP:0000486
11 epicanthus 33 HP:0000286
12 everted lower lip vermilion 33 HP:0000232
13 absent speech 33 HP:0001344
14 gait ataxia 33 HP:0002066
15 short philtrum 33 HP:0000322
16 joint hypermobility 33 HP:0001382
17 open mouth 33 HP:0000194
18 upslanted palpebral fissure 33 HP:0000582
19 impaired pain sensation 33 HP:0007328
20 long face 33 HP:0000276
21 pointed chin 33 HP:0000307
22 tented upper lip vermilion 33 HP:0010804
23 generalized hypotonia 33 HP:0001290
24 hypermetropia 33 HP:0000540
25 facial hypotonia 33 HP:0000297

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties

Head And Neck Face:
short philtrum
long face
pointed chin
hypotonic facies
variable dysmorphic features

Head And Neck Mouth:
open mouth
high-arched palate
everted lower lip
tented upper lip

Neurologic Central Nervous System:
ataxic gait
delayed psychomotor development
poor or absent speech
decreased pain sensation
intellectual disability, moderate to severe

Head And Neck Head:
microcephaly (-2 to -3 sd) (in some patients)

Respiratory:
recurrent respiratory infections

Head And Neck Eyes:
strabismus
epicanthal folds
hyperopia
upslanting palpebral fissures

Skeletal:
joint hypermobility

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
friendly personality
autistic features (in some patients)
stereotypic behavior

Clinical features from OMIM:

616579

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 40

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 40

Genetic Tests for Mental Retardation, Autosomal Dominant 40

Genetic tests related to Mental Retardation, Autosomal Dominant 40:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 40 30 CHAMP1

Anatomical Context for Mental Retardation, Autosomal Dominant 40

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 40:

42
Skin, Bone, Eye

Publications for Mental Retardation, Autosomal Dominant 40

Articles related to Mental Retardation, Autosomal Dominant 40:

# Title Authors Year
1
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. ( 26340335 )
2015
2
Large-scale discovery of novel genetic causes of developmental disorders. ( 25533962 )
2015
3
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. ( 23020937 )
2012

Variations for Mental Retardation, Autosomal Dominant 40

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 40:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHAMP1 NM_032436.3(CHAMP1): c.635delC (p.Pro212Leufs) deletion Pathogenic rs797044961 GRCh38 Chromosome 13, 114324477: 114324477
2 CHAMP1 NM_032436.3(CHAMP1): c.635delC (p.Pro212Leufs) deletion Pathogenic rs797044961 GRCh37 Chromosome 13, 115089952: 115089952
3 CHAMP1 NM_032436.3(CHAMP1): c.1192C> T (p.Arg398Ter) single nucleotide variant Pathogenic rs797044962 GRCh37 Chromosome 13, 115090509: 115090509
4 CHAMP1 NM_032436.3(CHAMP1): c.1192C> T (p.Arg398Ter) single nucleotide variant Pathogenic rs797044962 GRCh38 Chromosome 13, 114325034: 114325034
5 CHAMP1 NM_032436.3(CHAMP1): c.1768C> T (p.Gln590Ter) single nucleotide variant Pathogenic rs200070245 GRCh37 Chromosome 13, 115091085: 115091085
6 CHAMP1 NM_032436.3(CHAMP1): c.1768C> T (p.Gln590Ter) single nucleotide variant Pathogenic rs200070245 GRCh38 Chromosome 13, 114325610: 114325610
7 CHAMP1 NM_032436.3(CHAMP1): c.1866_1867delCA (p.Asp622Glufs) deletion Pathogenic rs797044963 GRCh37 Chromosome 13, 115091183: 115091184
8 CHAMP1 NM_032436.3(CHAMP1): c.1866_1867delCA (p.Asp622Glufs) deletion Pathogenic rs797044963 GRCh38 Chromosome 13, 114325708: 114325709
9 CHAMP1 NM_032436.3(CHAMP1): c.1002G> A (p.Trp334Ter) single nucleotide variant Pathogenic rs879255261 GRCh37 Chromosome 13, 115090319: 115090319
10 CHAMP1 NM_032436.3(CHAMP1): c.1002G> A (p.Trp334Ter) single nucleotide variant Pathogenic rs879255261 GRCh38 Chromosome 13, 114324844: 114324844
11 CHAMP1 NM_001164144.2(CHAMP1): c.1489C> T (p.Arg497Ter) single nucleotide variant Pathogenic rs782397980 GRCh38 Chromosome 13, 114325331: 114325331
12 CHAMP1 NM_001164144.2(CHAMP1): c.1489C> T (p.Arg497Ter) single nucleotide variant Pathogenic rs782397980 GRCh37 Chromosome 13, 115090806: 115090806
13 CHAMP1 NM_001164144.2(CHAMP1): c.1150C> T (p.Pro384Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 115090467: 115090467
14 CHAMP1 NM_001164144.2(CHAMP1): c.1150C> T (p.Pro384Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 114324992: 114324992

Expression for Mental Retardation, Autosomal Dominant 40

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 40.

Pathways for Mental Retardation, Autosomal Dominant 40

GO Terms for Mental Retardation, Autosomal Dominant 40

Sources for Mental Retardation, Autosomal Dominant 40

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10 dbSNP
11 DGIdb
17 EFO
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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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