MCID: MNT179
MIFTS: 21

Mental Retardation, Autosomal Dominant 21

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Skin diseases, Gastrointestinal diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 21

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 21:

Name: Mental Retardation, Autosomal Dominant 21 57 75 29 6 73
Mrd21 57 12 75
Intellectual Disability-Feeding Difficulties-Developmental Delay-Microcephaly Syndrome 59
Autosomal Dominant Non-Syndromic Intellectual Disability 21 12
Mental Retardation, Autosomal Dominant, Type 21 40
Autosomal Dominant Mental Retardation 21 12

Characteristics:

Orphanet epidemiological data:

59
intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
mental retardation, autosomal dominant 21:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 21

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 21: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD21 features include short stature, microcephaly, and developmental delay.

MalaCards based summary : Mental Retardation, Autosomal Dominant 21, is also known as mrd21. An important gene associated with Mental Retardation, Autosomal Dominant 21 is CTCF (CCCTC-Binding Factor). Related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of CTCF on chromosome 16q22.1.

Description from OMIM: 615502

Related Diseases for Mental Retardation, Autosomal Dominant 21

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 Autosomal Dominant Mental Retardation 55
Autosomal Dominant Mental Retardation 61

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 21

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Eyes:
strabismus
hypermetropia

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
cleft palate (in some patients)
thin lips

Cardiovascular Vascular:
patent ductus arteriosus (rare)

Growth Height:
short stature

Neurologic Central Nervous System:
feeding difficulties
developmental delay
hypotonia
mental retardation, variable severity

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Head And Neck Teeth:
dental anomalies
prominent incisors (in some patients)
small teeth apart from incisors (in some patients)

Cardiovascular Heart:
atrial septal defect (rare)
aortic coarctation, mild (rare)

Neurologic Behavioral Psychiatric Manifestations:
autistic behavior (in some patients)


Clinical features from OMIM:

615502

Human phenotypes related to Mental Retardation, Autosomal Dominant 21:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 global developmental delay 32 HP:0001263
3 abnormality of the dentition 32 HP:0000164
4 microcephaly 32 HP:0000252
5 short stature 32 HP:0004322
6 cleft palate 32 occasional (7.5%) HP:0000175
7 feeding difficulties 32 HP:0011968
8 strabismus 32 HP:0000486
9 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
10 cryptorchidism 32 HP:0000028
11 atrial septal defect 32 occasional (7.5%) HP:0001631
12 coarctation of aorta 32 occasional (7.5%) HP:0001680
13 thin vermilion border 32 HP:0000233
14 autistic behavior 32 occasional (7.5%) HP:0000729
15 generalized hypotonia 32 HP:0001290
16 hypermetropia 32 HP:0000540

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 21

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 21

Genetic Tests for Mental Retardation, Autosomal Dominant 21

Genetic tests related to Mental Retardation, Autosomal Dominant 21:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 21 29 CTCF

Anatomical Context for Mental Retardation, Autosomal Dominant 21

Publications for Mental Retardation, Autosomal Dominant 21

Variations for Mental Retardation, Autosomal Dominant 21

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 21:

75
# Symbol AA change Variation ID SNP ID
1 CTCF p.Arg567Trp VAR_070776 rs879255516

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 21:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CTCF NM_006565.3(CTCF): c.375dupT (p.Val126Cysfs) duplication Pathogenic rs879255570 GRCh38 Chromosome 16, 67611207: 67611207
2 CTCF NM_006565.3(CTCF): c.375dupT (p.Val126Cysfs) duplication Pathogenic rs879255570 GRCh37 Chromosome 16, 67645110: 67645110
3 CTCF NM_006565.3(CTCF): c.1186dupA (p.Arg396Lysfs) duplication Pathogenic rs879255571 GRCh38 Chromosome 16, 67620796: 67620796
4 CTCF NM_006565.3(CTCF): c.1186dupA (p.Arg396Lysfs) duplication Pathogenic rs879255571 GRCh37 Chromosome 16, 67654699: 67654699
5 CTCF NM_006565.3(CTCF): c.1699C> T (p.Arg567Trp) single nucleotide variant Likely pathogenic rs879255516 GRCh37 Chromosome 16, 67662453: 67662453
6 CTCF NM_006565.3(CTCF): c.1699C> T (p.Arg567Trp) single nucleotide variant Likely pathogenic rs879255516 GRCh38 Chromosome 16, 67628550: 67628550

Expression for Mental Retardation, Autosomal Dominant 21

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 21.

Pathways for Mental Retardation, Autosomal Dominant 21

GO Terms for Mental Retardation, Autosomal Dominant 21

Sources for Mental Retardation, Autosomal Dominant 21

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
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