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MCID: MNT158
MIFTS: 25

Mental Retardation, Autosomal Dominant 22

Categories: Genetic diseases, Fetal diseases, Rare diseases, Mental diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Skin diseases, Gastrointestinal diseases
Genes Variations Symptoms & Phenotypes
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Aliases & Classifications for Mental Retardation, Autosomal Dominant 22

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MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 22:

Name: Mental Retardation, Autosomal Dominant 22 57 75 29 6 73
Mrd22 57 12 75
Autosomal Dominant Non-Syndromic Intellectual Disability 22 12
Autosomal Dominant Mental Retardation 22 12
Telomeric Deletion 1q 59
Distal Monosomy 1q 59
Distal Deletion 1q 59
Monosomy 1qter 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
variable expressivity
incomplete penetrance of some features
two unrelated patients with a point mutation in the zbtb18 gene has been reported (last curated april 2017)
contiguous gene deletion syndrome (in most patients)


HPO:

32
mental retardation, autosomal dominant 22:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Mental diseases Neuronal diseases Eye diseases Cardiovascular diseases Bone diseases Skin diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Developmental anomalies during embryogenesis


Sources

Summaries for Mental Retardation, Autosomal Dominant 22

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OMIM : 57 Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012). Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014). (612337)

MalaCards based summary : Mental Retardation, Autosomal Dominant 22, is also known as mrd22, and has symptoms including seizures An important gene associated with Mental Retardation, Autosomal Dominant 22 is ZBTB18 (Zinc Finger And BTB Domain Containing 18). Related phenotypes are short stature and thin vermilion border

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 22: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD22 patients have limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low- set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures.

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ZBTB18 on chromosome 1q44.

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Related Diseases for Mental Retardation, Autosomal Dominant 22

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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 Autosomal Dominant Mental Retardation 55
Autosomal Dominant Mental Retardation 61

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Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 22

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
epicanthal folds

Neurologic Central Nervous System:
seizures
hypotonia
agenesis of the corpus callosum
mental retardation
delayed psychomotor development
more
Head And Neck Face:
smooth philtrum
prominent forehead
micrognathia
round face

Head And Neck Mouth:
thin upper lip

Growth Other:
poor growth

Head And Neck Ears:
low-set ears
malformed ears

Head And Neck Head:
microcephaly

Growth Height:
short stature

Head And Neck Nose:
flat nasal bridge


Clinical features from OMIM:

612337

Human phenotypes related to Mental Retardation, Autosomal Dominant 22:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
3 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
4 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
5 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
6 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
7 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
8 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
9 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
10 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
11 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
12 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
13 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
14 aplasia/hypoplasia of the corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0007370
15 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
16 thin upper lip vermilion 32 HP:0000219
17 abnormality of the pinna 32 HP:0000377
18 agenesis of corpus callosum 32 HP:0001274
19 generalized hypotonia 32 HP:0001290

UMLS symptoms related to Mental Retardation, Autosomal Dominant 22:


seizures
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Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 22

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Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 22

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Genetic Tests for Mental Retardation, Autosomal Dominant 22

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Genetic tests related to Mental Retardation, Autosomal Dominant 22:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 22 29 ZBTB18
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Anatomical Context for Mental Retardation, Autosomal Dominant 22

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Publications for Mental Retardation, Autosomal Dominant 22

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Variations for Mental Retardation, Autosomal Dominant 22

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ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 22:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZBTB18 NM_205768.2(ZBTB18): c.397G> T (p.Glu133Ter) single nucleotide variant Pathogenic rs398122406 GRCh37 Chromosome 1, 244217473: 244217473
2 ZBTB18 NM_205768.2(ZBTB18): c.397G> T (p.Glu133Ter) single nucleotide variant Pathogenic rs398122406 GRCh38 Chromosome 1, 244054171: 244054171
3 ZBTB18 NM_205768.2(ZBTB18): c.1382A> G (p.Asn461Ser) single nucleotide variant Likely pathogenic rs797044885 GRCh37 Chromosome 1, 244218458: 244218458
4 ZBTB18 NM_205768.2(ZBTB18): c.1382A> G (p.Asn461Ser) single nucleotide variant Likely pathogenic rs797044885 GRCh38 Chromosome 1, 244055156: 244055156
5 ZBTB18 NM_205768.2(ZBTB18): c.160T> C (p.Cys54Arg) single nucleotide variant Likely pathogenic rs869312689 GRCh37 Chromosome 1, 244217236: 244217236
6 ZBTB18 NM_205768.2(ZBTB18): c.160T> C (p.Cys54Arg) single nucleotide variant Likely pathogenic rs869312689 GRCh38 Chromosome 1, 244053934: 244053934
7 ZBTB18 NM_205768.2(ZBTB18): c.1183C> T (p.Gln395Ter) single nucleotide variant Likely pathogenic rs875989786 GRCh37 Chromosome 1, 244218259: 244218259
8 ZBTB18 NM_205768.2(ZBTB18): c.1183C> T (p.Gln395Ter) single nucleotide variant Likely pathogenic rs875989786 GRCh38 Chromosome 1, 244054957: 244054957
9 ZBTB18 NM_205768.2(ZBTB18): c.943_944delAG (p.Arg315Glyfs) deletion Pathogenic rs1085307108 GRCh37 Chromosome 1, 244218019: 244218020
10 ZBTB18 NM_205768.2(ZBTB18): c.943_944delAG (p.Arg315Glyfs) deletion Pathogenic rs1085307108 GRCh38 Chromosome 1, 244054717: 244054718
11 ZBTB18 NM_205768.2(ZBTB18): c.599delC (p.Ser200Terfs) deletion Pathogenic rs1060499655 GRCh37 Chromosome 1, 244217675: 244217675
12 ZBTB18 NM_205768.2(ZBTB18): c.599delC (p.Ser200Terfs) deletion Pathogenic rs1060499655 GRCh38 Chromosome 1, 244054373: 244054373
13 ZBTB18 NM_205768.2(ZBTB18): c.583C> T (p.Arg195Ter) single nucleotide variant Pathogenic rs1064792999 GRCh38 Chromosome 1, 244054357: 244054357
14 ZBTB18 NM_205768.2(ZBTB18): c.583C> T (p.Arg195Ter) single nucleotide variant Pathogenic rs1064792999 GRCh37 Chromosome 1, 244217659: 244217659
15 ZBTB18 NM_205768.2(ZBTB18): c.142C> T (p.Arg48Ter) single nucleotide variant Pathogenic rs1135401770 GRCh38 Chromosome 1, 244053916: 244053916
16 ZBTB18 NM_205768.2(ZBTB18): c.142C> T (p.Arg48Ter) single nucleotide variant Pathogenic rs1135401770 GRCh37 Chromosome 1, 244217218: 244217218
17 ZBTB18 NM_205768.2(ZBTB18): c.1390C> T (p.Arg464Cys) single nucleotide variant Pathogenic rs750922282 GRCh38 Chromosome 1, 244055164: 244055164
18 ZBTB18 NM_205768.2(ZBTB18): c.1390C> T (p.Arg464Cys) single nucleotide variant Pathogenic rs750922282 GRCh37 Chromosome 1, 244218466: 244218466
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Expression for Mental Retardation, Autosomal Dominant 22

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Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 22.
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Pathways for Mental Retardation, Autosomal Dominant 22

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GO Terms for Mental Retardation, Autosomal Dominant 22

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Sources for Mental Retardation, Autosomal Dominant 22

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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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