|
MCID: CHR226
MIFTS: 36
|
Chromosome 1q41-Q42 Deletion Syndrome
Categories:
Rare diseases, Fetal diseases, Genetic diseases
|
|
|
|
MalaCards integrated aliases for Chromosome 1q41-Q42 Deletion Syndrome:
Characteristics:Orphanet epidemiological data:59
1q41q42 microdeletion syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
isolated cases
Miscellaneous:
highly variable phenotype contiguous gene deletion syndrome midline defects HPO:32
chromosome 1q41-q42 deletion syndrome:
Onset and clinical course phenotypic variability Inheritance autosomal dominant inheritance sporadic Classifications:
ICD10:
33
34
|
|
NIH Rare Diseases
:
53
Chromosome 1q41-q42 deletionsyndromeis characterized by a small, but variable deletion in a particular place on the long arm of one copy of chromosome 1, usually spanning several genes. There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected. Features may include poor feeding in infancy; developmental delay including delayed or absent speech; and moderate to severe intellectual disability. Other features may include hypotonia; short stature; seizures; heart defects; structural brain anomalies (most commonly underdevelopment of the corpus callosum); genitourinary abnormalities; cleft palate; microcephaly; vision problems; hearing loss; and other abnormalities. Some may have characteristic facial features. Researchers have suggested the features are caused by disruption of at least four genes.
MalaCards based summary : Chromosome 1q41-Q42 Deletion Syndrome, also known as 1q41-q42 microdeletion syndrome, is related to alacrima, achalasia, and mental retardation syndrome, and has symptoms including seizures An important gene associated with Chromosome 1q41-Q42 Deletion Syndrome is DEL1Q41Q42 (Chromosome 1q41-Q42 Deletion Syndrome), and among its related pathways/superpathways are Hedgehog Pathway and MAPK Pathway. Affiliated tissues include brain, heart and eye, and related phenotypes are frontal bossing and intellectual disability
Description from OMIM:
612530
|
Diseases related to Chromosome 1q41-Q42 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:612530Human phenotypes related to Chromosome 1q41-Q42 Deletion Syndrome:59 32 (show all 40)
UMLS symptoms related to Chromosome 1q41-Q42 Deletion Syndrome:seizures |
|
|
Genetic tests related to Chromosome 1q41-Q42 Deletion Syndrome:
|
MalaCards organs/tissues related to Chromosome 1q41-Q42 Deletion Syndrome:41
Brain,
Heart,
Eye,
Lung,
Skin,
Neutrophil
|
Articles related to Chromosome 1q41-Q42 Deletion Syndrome:
|
Genes related to Chromosome 1q41-Q42 Deletion Syndrome (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
|
|
|
|
Search
GEO
for disease gene expression data for Chromosome 1q41-Q42 Deletion Syndrome.
|
Biological processes related to Chromosome 1q41-Q42 Deletion Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Chromosome 1q41-Q42 Deletion Syndrome according to GeneCards Suite gene sharing:
|
|