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MRD22
MCID: MNT158
MIFTS: 31
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Mental Retardation, Autosomal Dominant 22 (MRD22)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 22:
Characteristics:OMIM®:57 (Updated 05-Apr-2021)
Miscellaneous:
variable expressivity variable phenotype 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)
Inheritance:
autosomal dominant HPO:31
mental retardation, autosomal dominant 22:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases Anatomical: Mental diseases Neuronal diseases Ear diseases Eye diseases Gastrointestinal diseases
ICD10:
33
Orphanet: 58
Developmental anomalies during embryogenesis |
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OMIM® :
57
MRD22 is characterized by impaired intellectual development with frequent cooccurrence of corpus callosum anomalies, hypotonia, microcephaly, growth problems, and variable facial dysmorphism (summary by van der Schoot et al., 2018).
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). (612337) (Updated 05-Apr-2021)
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 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 ZBTB18 on chromosome 1q44. UniProtKB/Swiss-Prot : 72 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. |
Human phenotypes related to Mental Retardation, Autosomal Dominant 22:58 31 (show all 21)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:612337 (Updated 05-Apr-2021)UMLS symptoms related to Mental Retardation, Autosomal Dominant 22:seizures GenomeRNAi Phenotypes related to Mental Retardation, Autosomal Dominant 22 according to GeneCards Suite gene sharing:26 (show all 13)
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Articles related to Mental Retardation, Autosomal Dominant 22:(show all 13)
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Genes related to Mental Retardation, Autosomal Dominant 22 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 22:6 (show all 28)
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Search
GEO
for disease gene expression data for Mental Retardation, Autosomal Dominant 22.
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Molecular functions related to Mental Retardation, Autosomal Dominant 22 according to GeneCards Suite gene sharing:
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