MRD22
MCID: MNT158
MIFTS: 28
|
Mental Retardation, Autosomal Dominant 22 (MRD22)
Categories:
Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
|
|
MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 22:
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 Bone diseases Cardiovascular diseases Skin diseases Ear diseases Gastrointestinal diseases
ICD10:
34
|
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). Affiliated tissues include skin, bone and eye, and related phenotypes are hypertelorism and low-set ears 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 : 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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:612337Human phenotypes related to Mental Retardation, Autosomal Dominant 22:59 32 (show all 20)
UMLS symptoms related to Mental Retardation, Autosomal Dominant 22:seizures |
|
MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 22:41
Skin,
Bone,
Eye
|
Articles related to Mental Retardation, Autosomal Dominant 22:
|
ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 22:6 (show all 24)
|
Search
GEO
for disease gene expression data for Mental Retardation, Autosomal Dominant 22.
|
|
|