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MRD40
MCID: MNT242
MIFTS: 26

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
Genes Variations Tissues Symptoms & Phenotypes
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Aliases & Classifications for Mental Retardation, Autosomal Dominant 40

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MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 40:

Name: Mental Retardation, Autosomal Dominant 40 57 75 29 6
Mrd40 57 12 75
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:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Mental diseases Neuronal diseases Eye diseases Bone diseases Cardiovascular diseases Skin diseases Ear diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)


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Summaries for Mental Retardation, Autosomal Dominant 40

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UniProtKB/Swiss-Prot : 75 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 low-set ears and high palate

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
Sources

Related Diseases for Mental Retardation, Autosomal Dominant 40

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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 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
Autosomal Dominant Mental Retardation 55

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Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 40

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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

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

Human phenotypes related to Mental Retardation, Autosomal Dominant 40:

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

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 40

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

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Genetic Tests for Mental Retardation, Autosomal Dominant 40

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Genetic tests related to Mental Retardation, Autosomal Dominant 40:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 40 29 CHAMP1
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Anatomical Context for Mental Retardation, Autosomal Dominant 40

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

41
Skin, Bone, Eye
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Publications for Mental Retardation, Autosomal Dominant 40

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Variations for Mental Retardation, Autosomal Dominant 40

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

6 (show all 12)
# 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
Sources

Expression for Mental Retardation, Autosomal Dominant 40

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

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GO Terms for Mental Retardation, Autosomal Dominant 40

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Sources for Mental Retardation, Autosomal Dominant 40

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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