MRD40
MCID: MNT242
MIFTS: 23

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 57 74 29 6
Mrd40 57 12 74
Autosomal Dominant Non-Syndromic Intellectual Disability 40 12
Autosomal Dominant Mental Retardation 40 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset at birth


HPO:

32
mental retardation, autosomal dominant 40:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070070
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Dominant 40

UniProtKB/Swiss-Prot : 74 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). 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.

More information from OMIM: 616579 PS156200

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 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:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 low-set ears 32 HP:0000369
3 high palate 32 HP:0000218
4 intellectual disability 32 HP:0001249
5 global developmental delay 32 HP:0001263
6 recurrent respiratory infections 32 HP:0002205
7 gastroesophageal reflux 32 HP:0002020
8 stereotypy 32 HP:0000733
9 open mouth 32 HP:0000194
10 short philtrum 32 HP:0000322
11 generalized hypotonia 32 HP:0001290
12 tented upper lip vermilion 32 HP:0010804
13 feeding difficulties 32 HP:0011968
14 strabismus 32 HP:0000486
15 epicanthus 32 HP:0000286
16 everted lower lip vermilion 32 HP:0000232
17 absent speech 32 HP:0001344
18 gait ataxia 32 HP:0002066
19 joint hypermobility 32 HP:0001382
20 upslanted palpebral fissure 32 HP:0000582
21 impaired pain sensation 32 HP:0007328
22 long face 32 HP:0000276
23 pointed chin 32 HP:0000307
24 hypermetropia 32 HP:0000540
25 facial hypotonia 32 HP:0000297

Symptoms via clinical synopsis from OMIM:

57
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

Skeletal:
joint hypermobility

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

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

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 29 CHAMP1

Anatomical Context for Mental Retardation, Autosomal Dominant 40

Publications for Mental Retardation, Autosomal Dominant 40

Articles related to Mental Retardation, Autosomal Dominant 40:

# Title Authors PMID Year
1
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. 8 71
26340335 2015
2
Large-scale discovery of novel genetic causes of developmental disorders. 8 71
25533962 2015
3
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 8 71
23020937 2012

Variations for Mental Retardation, Autosomal Dominant 40

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CHAMP1 NM_032436.4(CHAMP1): c.635del (p.Pro212fs) deletion Pathogenic rs797044961 13:115089952-115089952 13:114324477-114324477
2 CHAMP1 NM_032436.4(CHAMP1): c.1192C> T (p.Arg398Ter) single nucleotide variant Pathogenic rs797044962 13:115090509-115090509 13:114325034-114325034
3 CHAMP1 NM_032436.4(CHAMP1): c.1768C> T (p.Gln590Ter) single nucleotide variant Pathogenic rs200070245 13:115091085-115091085 13:114325610-114325610
4 CHAMP1 NM_032436.4(CHAMP1): c.1866_1867del (p.Asp622fs) deletion Pathogenic rs797044963 13:115091183-115091184 13:114325708-114325709
5 CHAMP1 NM_032436.4(CHAMP1): c.1002G> A (p.Trp334Ter) single nucleotide variant Pathogenic rs879255261 13:115090319-115090319 13:114324844-114324844
6 CHAMP1 NM_032436.4(CHAMP1): c.1489C> T (p.Arg497Ter) single nucleotide variant Pathogenic rs782397980 13:115090806-115090806 13:114325331-114325331
7 CHAMP1 NM_032436.4(CHAMP1): c.1150C> T (p.Pro384Ser) single nucleotide variant Uncertain significance 13:115090467-115090467 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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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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