MRD21
MCID: MNT179
MIFTS: 36

Mental Retardation, Autosomal Dominant 21 (MRD21)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare 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 72 29 6 70
Mrd21 57 12 72
Autosomal Dominant Non-Syndromic Intellectual Disability 21 12 15
Mental Retardation, Autosomal Dominant, Type 21 39
Autosomal Dominant Mental Retardation 21 12
Ctcf-Related Neurodevelopmental Disorder 58

Characteristics:

Orphanet epidemiological data:

58
ctcf-related neurodevelopmental disorder
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
mental retardation, autosomal dominant 21:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, Autosomal Dominant 21

UniProtKB/Swiss-Prot : 72 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, also known as mrd21, is related to spherocytosis, type 4 and silver-russell syndrome 1. An important gene associated with Mental Retardation, Autosomal Dominant 21 is CTCF (CCCTC-Binding Factor). Affiliated tissues include eye and lung, and related phenotypes are intellectual disability and failure to thrive

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.

More information from OMIM: 615502 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 21

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

# Related Disease Score Top Affiliating Genes
1 spherocytosis, type 4 9.7 CTCFL CTCF
2 silver-russell syndrome 1 9.6 CTCFL CTCF
3 cornelia de lange syndrome 9.5 SETD5 CTCFL CTCF

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 21

Human phenotypes related to Mental Retardation, Autosomal Dominant 21:

58 31 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
3 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
4 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
5 microcephaly 58 31 very rare (1%) Frequent (79-30%) HP:0000252
6 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
7 broad hallux phalanx 58 31 frequent (33%) Frequent (79-30%) HP:0010059
8 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
9 cryptorchidism 58 31 very rare (1%) Frequent (79-30%) HP:0000028
10 atrial septal defect 58 31 very rare (1%) Frequent (79-30%) HP:0001631
11 sandal gap 58 31 frequent (33%) Frequent (79-30%) HP:0001852
12 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
13 patent ductus arteriosus 58 31 very rare (1%) Frequent (79-30%) HP:0001643
14 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
15 ventriculomegaly 58 31 very rare (1%) Frequent (79-30%) HP:0002119
16 long eyelashes 58 31 very rare (1%) Frequent (79-30%) HP:0000527
17 single transverse palmar crease 58 31 very rare (1%) Frequent (79-30%) HP:0000954
18 autistic behavior 58 31 very rare (1%) Frequent (79-30%) HP:0000729
19 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
20 hypermetropia 58 31 very rare (1%) Frequent (79-30%) HP:0000540
21 macrodontia of permanent maxillary central incisor 58 31 frequent (33%) Frequent (79-30%) HP:0000675
22 hypotonia 31 very rare (1%) HP:0001252
23 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
24 osteopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000938
25 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
26 hypertelorism 58 31 very rare (1%) Occasional (29-5%) HP:0000316
27 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
28 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
29 microdontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000691
30 cleft palate 58 31 very rare (1%) Occasional (29-5%) HP:0000175
31 epicanthus 58 31 very rare (1%) Occasional (29-5%) HP:0000286
32 coarctation of aorta 58 31 very rare (1%) Occasional (29-5%) HP:0001680
33 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
34 narrow mouth 58 31 very rare (1%) Occasional (29-5%) HP:0000160
35 low-set, posteriorly rotated ears 58 31 very rare (1%) Occasional (29-5%) HP:0000368
36 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
37 long philtrum 58 31 very rare (1%) Occasional (29-5%) HP:0000343
38 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
39 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
40 high forehead 58 31 very rare (1%) Occasional (29-5%) HP:0000348
41 sacral dimple 58 31 very rare (1%) Occasional (29-5%) HP:0000960
42 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806
43 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
44 microcornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000482
45 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
46 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
47 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
48 hypoplastic labia majora 58 31 occasional (7.5%) Occasional (29-5%) HP:0000059
49 prolonged neonatal jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0006579
50 fetal distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0025116

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
hypermetropia

Abdomen Gastrointestinal:
feeding difficulties

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

Genitourinary Internal Genitalia Male:
cryptorchidism

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

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 (Updated 05-Apr-2021)

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

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 21:

40
Eye, Lung

Publications for Mental Retardation, Autosomal Dominant 21

Articles related to Mental Retardation, Autosomal Dominant 21:

# Title Authors PMID Year
1
De novo mutations in the genome organizer CTCF cause intellectual disability. 57 6
23746550 2013
2
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. 6
31239556 2019
3
Molecular mechanism of directional CTCF recognition of a diverse range of genomic sites. 6
29076501 2017
4
Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report. 61
28619046 2017
5
Isolation and biochemical characterization of two forms of RD21 from cotyledons of daikon radish (Raphanus sativus). 61
18838434 2008

Variations for Mental Retardation, Autosomal Dominant 21

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

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTCF NM_006565.4(CTCF):c.773_776del (p.Lys258fs) Deletion Pathogenic 625526 rs1567608876 GRCh37: 16:67645507-67645510
GRCh38: 16:67611604-67611607
2 CTCF NM_006565.4(CTCF):c.1990C>T (p.Gln664Ter) SNV Pathogenic 803262 rs200677445 GRCh37: 16:67670745-67670745
GRCh38: 16:67636842-67636842
3 CTCF NM_006565.4(CTCF):c.375dup (p.Val126fs) Duplication Pathogenic 88636 rs879255570 GRCh37: 16:67645109-67645110
GRCh38: 16:67611206-67611207
4 CTCF NM_006565.4(CTCF):c.1186dup (p.Arg396fs) Duplication Pathogenic 88637 rs879255571 GRCh37: 16:67654695-67654696
GRCh38: 16:67620792-67620793
5 CTCF NM_006565.4(CTCF):c.778_781del (p.Lys260fs) Microsatellite Pathogenic 984936 GRCh37: 16:67645509-67645512
GRCh38: 16:67611606-67611609
6 CTCF NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) SNV Pathogenic 88638 rs879255516 GRCh37: 16:67662453-67662453
GRCh38: 16:67628550-67628550
7 CTCF NM_006565.4(CTCF):c.329dup (p.Gly111fs) Duplication Pathogenic 998024 GRCh37: 16:67645063-67645064
GRCh38: 16:67611160-67611161
8 CTCF NM_006565.4(CTCF):c.848G>A (p.Arg283His) SNV Likely pathogenic 562205 rs1567609067 GRCh37: 16:67645920-67645920
GRCh38: 16:67612017-67612017
9 CTCF NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) SNV Likely pathogenic 594856 rs1567610917 GRCh37: 16:67650711-67650711
GRCh38: 16:67616808-67616808
10 CTCF NM_006565.4(CTCF):c.958C>G (p.Arg320Gly) SNV Likely pathogenic 976764 GRCh37: 16:67650653-67650653
GRCh38: 16:67616750-67616750
11 CTCF NM_006565.4(CTCF):c.1079G>T (p.Ser360Ile) SNV Likely pathogenic 807586 rs1597718106 GRCh37: 16:67650774-67650774
GRCh38: 16:67616871-67616871
12 CTCF NM_006565.4(CTCF):c.1365C>G (p.His455Gln) SNV Likely pathogenic 812003 rs1597725291 GRCh37: 16:67660465-67660465
GRCh38: 16:67626562-67626562
13 CTCF NM_006565.4(CTCF):c.2139C>A (p.Asn713Lys) SNV Uncertain significance 983075 GRCh37: 16:67671730-67671730
GRCh38: 16:67637827-67637827
14 CTCF NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys) SNV Uncertain significance 429261 rs1131691283 GRCh37: 16:67650719-67650719
GRCh38: 16:67616816-67616816
15 CTCF NM_006565.4(CTCF):c.1826C>A (p.Ser609Tyr) SNV Uncertain significance 1031054 GRCh37: 16:67663425-67663425
GRCh38: 16:67629522-67629522
16 CTCF NM_006565.4(CTCF):c.313G>A (p.Glu105Lys) SNV Uncertain significance 1031055 GRCh37: 16:67645048-67645048
GRCh38: 16:67611145-67611145
17 CTCF NM_006565.4(CTCF):c.1745G>T (p.Gly582Val) SNV Uncertain significance 1031651 GRCh37: 16:67663344-67663344
GRCh38: 16:67629441-67629441
18 CTCF NM_006565.4(CTCF):c.538_540dup (p.Gln180dup) Duplication Uncertain significance 1031652 GRCh37: 16:67645270-67645271
GRCh38: 16:67611367-67611368
19 CTCF NM_006565.4(CTCF):c.638G>A (p.Arg213His) SNV Uncertain significance 1031653 GRCh37: 16:67645373-67645373
GRCh38: 16:67611470-67611470
20 CTCF NM_006565.4(CTCF):c.798C>G (p.Phe266Leu) SNV Uncertain significance 1031654 GRCh37: 16:67645870-67645870
GRCh38: 16:67611967-67611967
21 CTCF NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) SNV Likely benign 210800 rs145727304 GRCh37: 16:67670682-67670682
GRCh38: 16:67636779-67636779

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

72
# Symbol AA change Variation ID SNP ID
1 CTCF p.Arg567Trp VAR_070776 rs879255516

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

Biological processes related to Mental Retardation, Autosomal Dominant 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.33 SETD5 CTCFL CTCF
2 regulation of gene expression by genetic imprinting GO:0006349 8.96 CTCFL CTCF
3 regulation of histone acetylation GO:0035065 8.62 SETD5 CTCF

Molecular functions related to Mental Retardation, Autosomal Dominant 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin insulator sequence binding GO:0043035 8.62 CTCFL CTCF

Sources for Mental Retardation, Autosomal Dominant 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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