Chromosome 1p36 Deletion Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases
Aliases & Descriptions for Chromosome 1p36 Deletion Syndrome:
Orphanet epidemiological data:51
1p36 deletion syndrome:
Inheritance: Not applicable; Prevalence: 1-5/10000 (United States); Age of onset: Antenatal,Neonatal; Age of death: any age
chromosome 1p36 deletion syndrome:
Onset and clinical course: phenotypic variability
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases
ICD10: 28 27
NIH Rare Diseases:45 1p36 deletion syndrome is a chromosome disorder that typically causes severe intellectual disability. most affected individuals do not speak, or speak only a few words. they may have temper tantrums, bite themselves, or exhibit other behavior problems. most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia). other features include a small head that is unusually short and wide; vision and hearing problems; abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia; and distinctive facial features. 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. most cases are not inherited; only about 20% of the cases of people with 1p36 deletion syndrome inherit the chromosome with a deleted segment from an unaffected parent. in these cases, the parent carries a balanced translocation, in which no genetic material is gained or lost. there is no cure for this disease. treatment depends on the symptoms, and may include rehabilitation/educational programs, antiepileptic medication, and standard treatment for heart, kidney, eye, hearing or bone problems. last updated: 4/18/2016
MalaCards based summary: Chromosome 1p36 Deletion Syndrome, also known as 1p36 deletion syndrome, is related to lysosomal storage disease and cardiomyopathy, and has symptoms including malar flattening, abnormality of the mandible and pointed chin. An important gene associated with Chromosome 1p36 Deletion Syndrome is DEL1P36 (Chromosome 1p36 Deletion Syndrome), and among its related pathways is Proton Pump Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include brain, eye and kidney, and related mouse phenotypes are nervous system and mortality/aging.
Genetics Home Reference:23 1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).
OMIM:49 The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental... (607872) more...
Wikipedia:68 1p36 deletion syndrome (also known as monosomy 1p36) is a congenital genetic disorder characterized by... more...
GeneReviews summary for NBK1191
Diseases related to Chromosome 1p36 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 17)
Graphical network of diseases related to Chromosome 1p36 Deletion Syndrome:
Symptoms by clinical synopsis from OMIM:607872
Clinical features from OMIM:607872
Symptoms:51 (show all 90)
HPO human phenotypes related to Chromosome 1p36 Deletion Syndrome:(show all 172)
UMLS symptoms related to Chromosome 1p36 Deletion Syndrome:seizures
Genetic tests related to Chromosome 1p36 Deletion Syndrome:
MalaCards organs/tissues related to Chromosome 1p36 Deletion Syndrome:33
Brain, Eye, Kidney, Heart, Bone, Skin, Testes
Articles related to Chromosome 1p36 Deletion Syndrome:
Search GEO for disease gene expression data for Chromosome 1p36 Deletion Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet