MRD40
MCID: MNT242
MIFTS: 41

Mental Retardation, Autosomal Dominant 40 (MRD40)

Categories: 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 56 73 29 6
Mrd40 56 12 73
Autosomal Dominant Non-Syndromic Intellectual Disability 40 12 15
Autosomal Dominant Mental Retardation 40 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset at birth


HPO:

31
mental retardation, autosomal dominant 40:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 40

UniProtKB/Swiss-Prot : 73 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, also known as mrd40, is related to frontal fibrosing alopecia and caplan's syndrome. An important gene associated with Mental Retardation, Autosomal Dominant 40 is CHAMP1 (Chromosome Alignment Maintaining Phosphoprotein 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PI3K-Akt signaling pathway. Related phenotypes are microcephaly and intellectual disability

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

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 frontal fibrosing alopecia 10.3 HLA-B HLA-A
2 caplan's syndrome 10.2 HLA-DRB1 HLA-A
3 selective igg deficiency disease 10.2 HLA-B HLA-A
4 colorectal cancer, hereditary nonpolyposis, type 8 10.2 HLA-B HLA-A
5 intermediate uveitis 10.1 HLA-DRB1 HLA-B
6 cystic echinococcosis 10.1 HLA-DRB1 HLA-B
7 pyelitis 10.1 CABIN1 B2M
8 postherpetic neuralgia 10.1 HLA-DRB1 HLA-B HLA-A
9 moyamoya angiopathy 10.1 HLA-DRB1 HLA-B HLA-A
10 nontuberculous mycobacterial lung disease 10.1 HLA-DRB1 HLA-B HLA-A
11 idiopathic bronchiectasis 10.1 HLA-DRB1 HLA-B HLA-A
12 pityriasis rosea 10.1 HLA-DRB1 HLA-B HLA-A
13 red cell aplasia 10.1 HLA-DRB1 HLA-B HLA-A
14 pars planitis 10.1 HLA-DRB1 HLA-B HLA-A
15 paraneoplastic pemphigus 10.0 HLA-DRB1 HLA-B HLA-A
16 alveolar echinococcosis 10.0 HLA-DRB1 HLA-B HLA-A
17 pure red-cell aplasia 10.0 HLA-DRB1 HLA-B HLA-A
18 histoplasmosis 10.0 HLA-DRB1 HLA-B HLA-A
19 acute kidney tubular necrosis 10.0 CABIN1 B2M
20 sympathetic ophthalmia 10.0 HLA-DRB1 CXCL12
21 graft-versus-host disease 10.0 HLA-DRB1 HLA-B HLA-A
22 vogt-koyanagi-harada disease 10.0 HLA-DRB1 HLA-B HLA-A
23 herpes zoster 10.0 HLA-DRB1 HLA-B HLA-A
24 severe cutaneous adverse reaction 10.0 HLA-DRB1 HLA-B HLA-A
25 takayasu arteritis 10.0 HLA-DRB1 HLA-B HLA-A
26 rubella 10.0 HLA-DRB1 HLA-B HLA-A
27 alopecia areata 10.0 HLA-DRB1 HLA-B HLA-A
28 chronic pyelonephritis 10.0 HLA-B HLA-A B2M
29 cytomegalovirus infection 9.9 HLA-B HLA-A B2M
30 graves' disease 9.9 HLA-DRB1 HLA-B HLA-A
31 behcet syndrome 9.9 HLA-DRB1 HLA-B HLA-A
32 panuveitis 9.9 HLA-DRB1 HLA-B
33 waldenstroem's macroglobulinemia 9.9 CXCR4 B2M
34 mucormycosis 9.9 CSF3 CABIN1
35 intraocular lymphoma 9.9 CXCR4 CXCL12
36 stevens-johnson syndrome/toxic epidermal necrolysis 9.8 HLA-B HLA-A CXCR4
37 spherocytosis, type 5 9.8 CXCR4 CXCL12
38 pneumocystosis 9.8 CSF3 CABIN1
39 macroglossia 9.8 CSF3 B2M
40 plasma protein metabolism disease 9.7 CXCR4 B2M
41 celiac disease 1 9.7 HLA-DRB1 HLA-B HLA-A DPP4
42 hemorrhagic cystitis 9.7 HLA-A CSF3 CABIN1
43 acute disseminated encephalomyelitis 9.7 HLA-DRB1 HLA-B CSF3
44 melanoma, uveal 9.7 HLA-B HLA-A CXCR4
45 polyradiculoneuropathy 9.7 HLA-DRB1 CXCR4 CXCL12
46 primary biliary cirrhosis 9.7 HLA-DRB1 HLA-B HLA-A DPP4
47 cytomegalovirus retinitis 9.7 HLA-DRB1 HLA-B HLA-A CXCL12
48 autoimmune disease 9.6 HLA-DRB1 HLA-B HLA-A DPP4
49 aids dementia complex 9.6 CXCR4 CXCL12 B2M
50 meningitis 9.5 HLA-B CXCL12 CSF3

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 40:



Diseases related to Mental Retardation, Autosomal Dominant 40

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 40

Human phenotypes related to Mental Retardation, Autosomal Dominant 40:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 occasional (7.5%) HP:0000252
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 recurrent respiratory infections 31 HP:0002205
5 gastroesophageal reflux 31 HP:0002020
6 stereotypy 31 HP:0000733
7 feeding difficulties 31 HP:0011968
8 everted lower lip vermilion 31 HP:0000232
9 strabismus 31 HP:0000486
10 absent speech 31 HP:0001344
11 high palate 31 HP:0000218
12 low-set ears 31 HP:0000369
13 epicanthus 31 HP:0000286
14 joint hypermobility 31 HP:0001382
15 open mouth 31 HP:0000194
16 upslanted palpebral fissure 31 HP:0000582
17 impaired pain sensation 31 HP:0007328
18 long face 31 HP:0000276
19 short philtrum 31 HP:0000322
20 pointed chin 31 HP:0000307
21 tented upper lip vermilion 31 HP:0010804
22 gait ataxia 31 HP:0002066
23 generalized hypotonia 31 HP:0001290
24 hypermetropia 31 HP:0000540
25 facial hypotonia 31 HP:0000297

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
recurrent respiratory infections

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

Skeletal:
joint hypermobility

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

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)

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties

Head And Neck Ears:
low-set ears

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

Muscle Soft Tissue:
hypotonia

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

Clinical features from OMIM:

616579

MGI Mouse Phenotypes related to Mental Retardation, Autosomal Dominant 40:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.56 B2M CABIN1 CSF3 CXCL12 CXCR4 DPP4
2 immune system MP:0005387 9.23 B2M CABIN1 CSF3 CXCL12 CXCR4 DPP4

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. 6 56
26340335 2015
2
Large-scale discovery of novel genetic causes of developmental disorders. 56 6
25533962 2015
3
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 6 56
23020937 2012

Variations for Mental Retardation, Autosomal Dominant 40

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHAMP1 NM_032436.4(CHAMP1):c.635del (p.Pro212fs)deletion Pathogenic 208414 rs797044961 13:115089949-115089949 13:114324474-114324474
2 CHAMP1 NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter)SNV Pathogenic 208415 rs797044962 13:115090509-115090509 13:114325034-114325034
3 CHAMP1 NM_032436.4(CHAMP1):c.1768C>T (p.Gln590Ter)SNV Pathogenic 208416 rs200070245 13:115091085-115091085 13:114325610-114325610
4 CHAMP1 NM_032436.4(CHAMP1):c.1866_1867del (p.Asp622fs)deletion Pathogenic 208417 rs797044963 13:115091182-115091183 13:114325707-114325708
5 CHAMP1 NM_032436.4(CHAMP1):c.1002G>A (p.Trp334Ter)SNV Pathogenic 210049 rs879255261 13:115090319-115090319 13:114324844-114324844
6 CHAMP1 NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter)SNV Pathogenic 210050 rs782397980 13:115090806-115090806 13:114325331-114325331
7 CHAMP1 NM_032436.4(CHAMP1):c.661dup (p.Thr221fs)duplication Likely pathogenic 827777 13:115089977-115089978 13:114324502-114324503
8 CHAMP1 NM_032436.4(CHAMP1):c.1150C>T (p.Pro384Ser)SNV Uncertain significance 592137 rs1430511251 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

Pathways related to Mental Retardation, Autosomal Dominant 40 according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 HLA-DRB1 HLA-B HLA-A CSF3 B2M
2
Show member pathways
12.73 NOTCH1 HLA-B HLA-A CSF3
3
Show member pathways
12.57 HLA-DRB1 HLA-B HLA-A B2M
4 12.54 HLA-DRB1 HLA-B HLA-A B2M
5
Show member pathways
12.52 HLA-B HLA-A CXCR4 CXCL12 B2M
6 12.25 CXCR4 CXCL12 CABIN1 B2M
7
Show member pathways
12.2 HLA-DRB1 HLA-B HLA-A B2M
8 12.17 HLA-B HLA-A CXCR4
9 11.9 HLA-DRB1 HLA-B HLA-A B2M
10 11.89 HLA-DRB1 HLA-B HLA-A
11 11.87 HLA-DRB1 HLA-B HLA-A
12
Show member pathways
11.84 HLA-DRB1 HLA-B HLA-A CXCR4 CXCL12 B2M
13 11.8 HLA-B HLA-A B2M
14
Show member pathways
11.71 HLA-DRB1 HLA-A B2M
15
Show member pathways
11.67 HLA-DRB1 HLA-A B2M
16 11.43 HLA-DRB1 CXCR4 CXCL12
17 11.07 CXCR4 CXCL12
18 11.03 HLA-DRB1 CSF3
19 11.01 NOTCH1 CXCR4 CSF3
20 10.74 NOTCH1 CXCR4
21 10.53 HLA-B HLA-A B2M

GO Terms for Mental Retardation, Autosomal Dominant 40

Cellular components related to Mental Retardation, Autosomal Dominant 40 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.98 HLA-DRB1 HLA-B HLA-A DPP4 CXCR4 CXCL12
2 Golgi apparatus GO:0005794 9.91 NOTCH1 HLA-DRB1 HLA-B HLA-A B2M
3 external side of plasma membrane GO:0009897 9.78 HLA-DRB1 CXCR4 CXCL12 B2M
4 Golgi membrane GO:0000139 9.77 NOTCH1 HLA-DRB1 HLA-B HLA-A B2M
5 early endosome membrane GO:0031901 9.67 HLA-B HLA-A B2M
6 recycling endosome membrane GO:0055038 9.58 HLA-B HLA-A B2M
7 phagocytic vesicle membrane GO:0030670 9.5 HLA-B HLA-A B2M
8 MHC class I peptide loading complex GO:0042824 9.46 HLA-A B2M
9 ER to Golgi transport vesicle membrane GO:0012507 9.46 HLA-DRB1 HLA-B HLA-A B2M
10 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.43 HLA-DRB1 HLA-B HLA-A
11 cell surface GO:0009986 9.17 NOTCH1 HLA-DRB1 HLA-B HLA-A DPP4 CXCR4
12 MHC class I protein complex GO:0042612 9.13 HLA-B HLA-A B2M

Biological processes related to Mental Retardation, Autosomal Dominant 40 according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.9 HLA-B HLA-A CXCR4 CXCL12
2 positive regulation of cell proliferation GO:0008284 9.88 NOTCH1 DPP4 CXCL12 CSF3
3 axon guidance GO:0007411 9.79 NOTCH1 CXCR4 CXCL12
4 regulation of immune response GO:0050776 9.79 HLA-B HLA-A B2M
5 response to hypoxia GO:0001666 9.74 DPP4 CXCR4 CXCL12
6 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.67 HLA-B HLA-A B2M
7 regulation of calcium ion transport GO:0051924 9.61 CXCR4 CXCL12
8 antigen processing and presentation GO:0019882 9.61 HLA-DRB1 HLA-B HLA-A
9 negative regulation of neurogenesis GO:0050768 9.59 NOTCH1 B2M
10 inflammatory response to antigenic stimulus GO:0002437 9.58 NOTCH1 HLA-DRB1
11 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.56 CXCR4 CXCL12
12 interferon-gamma-mediated signaling pathway GO:0060333 9.56 HLA-DRB1 HLA-B HLA-A B2M
13 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.55 CXCR4 CXCL12
14 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.54 HLA-A B2M
15 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.54 HLA-B HLA-A B2M
16 positive regulation of T cell cytokine production GO:0002726 9.52 HLA-A B2M
17 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent GO:0002486 9.51 HLA-B HLA-A
18 positive regulation of T cell mediated cytotoxicity GO:0001916 9.5 HLA-B HLA-A B2M
19 protection from natural killer cell mediated cytotoxicity GO:0042270 9.48 HLA-B HLA-A
20 telencephalon cell migration GO:0022029 9.46 CXCR4 CXCL12
21 response to ultrasound GO:1990478 9.4 CXCR4 CXCL12
22 detection of bacterium GO:0016045 9.33 HLA-DRB1 HLA-B HLA-A
23 immune response GO:0006955 9.23 NOTCH1 HLA-DRB1 HLA-B HLA-A CXCR4 CXCL12
24 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.13 HLA-B HLA-A B2M

Molecular functions related to Mental Retardation, Autosomal Dominant 40 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.46 HLA-B HLA-A DPP4 CXCL12
2 TAP binding GO:0046977 8.96 HLA-B HLA-A
3 peptide antigen binding GO:0042605 8.8 HLA-DRB1 HLA-B HLA-A

Sources for Mental Retardation, Autosomal Dominant 40

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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