MCID: CHR222
MIFTS: 21

Chromosome 1p36 Deletion Syndrome malady

Summaries for Chromosome 1p36 Deletion Syndrome

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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. last updated: 6/30/2011

MalaCards: Chromosome 1p36 Deletion Syndrome, also known as chromosome 1, 1p36 deletion syndrome, is related to chromosome 1p deletion and n syndrome. An important gene associated with Chromosome 1p36 Deletion Syndrome is DEL1P36 (Chromosome 1p36 deletion syndrome). Affiliated tissues include brain, kidney and heart.

Aliases & Classifications for Chromosome 1p36 Deletion Syndrome

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 61UMLS
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Aliases & Descriptions:

chromosome 1p36 deletion syndrome 43 22 47
chromosome 1, 1p36 deletion syndrome 61
1p36 deletion syndrome 43
monosomy 1p36 syndrome 43


Related Diseases for Chromosome 1p36 Deletion Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases in the chromosome 9p deletion family:

chromosome 10p deletion chromosome 10q deletion
chromosome 11p deletion chromosome 11q deletion
chromosome 12p deletion chromosome 12q deletion
chromosome 13q deletion chromosome 14q deletion
chromosome 15q deletion chromosome 16p deletion
chromosome 16q deletion chromosome 17p deletion
chromosome 17q deletion chromosome 18p deletion syndrome
chromosome 19p deletion chromosome 19q deletion
chromosome 1p deletion chromosome 1p36 deletion syndrome
chromosome 1q deletion chromosome 1q41-q42 deletion syndrome
chromosome 20p deletion chromosome 20q deletion
chromosome 21q deletion chromosome 22q deletion
chromosome 2p deletion chromosome 2q deletion
chromosome 3p deletion chromosome 3q deletion
chromosome 4p deletion chromosome 4q deletion
chromosome 5q deletion chromosome 6p deletion
chromosome 6q deletion chromosome 7p deletion
chromosome 7q deletion chromosome 8p deletion
chromosome 8p23.1 deletion chromosome 8q deletion
chromosome 9q deletion chromosome xp deletion
chromosome xp22 deletion syndrome chromosome xq deletion
chromosome xq28 deletion syndrome chromosome 1p32-p31 deletion syndrome
chromosome 1q43-q44 deletion syndrome chromosome 2p16.1-p15 deletion syndrome
chromosome 2p12-p11.2 deletion syndrome chromosome 2q31.2 deletion syndrome
chromosome 2q32-q33 deletion syndrome chromosome 3q13.31 deletion syndrome
chromosome 4q21 deletion syndrome chromosome 5q14.3 deletion syndrome
chromosome 6q11-q14 deletion syndrome chromosome 6q25-q25 deletion syndrome
chromosome 8q21.11 deletion syndrome chromosome 18q deletion syndrome
chromosome xp21 deletion syndrome chromosome xp11.3 deletion syndrome

Diseases related to Chromosome 1p36 Deletion Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1chromosome 1p deletion10.4
2n syndrome10.3
3char syndrome10.2
4morbid obesity10.2
5pemphigus10.1
6prader-willi syndrome10.1
7micro syndrome10.1
8congenital fiber-type disproportion10.1
9polymicrogyria10.1
10annular pancreas10.1
11myopathy congenital10.1
12pemphigus vulgaris10.1

Graphical network of diseases related to Chromosome 1p36 Deletion Syndrome:



Diseases related to chromosome 1p36 deletion syndrome

Clinical Features for Chromosome 1p36 Deletion Syndrome

Drugs & Therapeutics for Chromosome 1p36 Deletion Syndrome

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Chromosome 1p36 Deletion Syndrome

Drug clinical trials:

Search ClinicalTrials for Chromosome 1p36 Deletion Syndrome

Search NIH Clinical Center for Chromosome 1p36 Deletion Syndrome

Search CenterWatch for Chromosome 1p36 Deletion Syndrome

Genetic Tests for Chromosome 1p36 Deletion Syndrome

Sources:
22GTR
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Genetic tests related to Chromosome 1p36 Deletion Syndrome:

id Genetic test Affiliating Genes
1 Chromosome 1p36 Deletion Syndrome22

Anatomical Context for Chromosome 1p36 Deletion Syndrome

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33MalaCards
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MalaCards organs/tissues related to Chromosome 1p36 Deletion Syndrome:

33
Brain, Kidney, Heart

Animal Models for Chromosome 1p36 Deletion Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Chromosome 1p36 Deletion Syndrome

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51PubMed
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Articles related to Chromosome 1p36 Deletion Syndrome:

idTitleAuthorsYear
1
Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings. (21199750)
2010
2
Revisit on a distinctive chromosome 1p36 deletion syndrome: report of one case and review of the English literature. (15301904)
2004

Genetic Variations for Chromosome 1p36 Deletion Syndrome

Expression for genes affiliated with Chromosome 1p36 Deletion Syndrome

Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Chromosome 1p36 Deletion Syndrome.

Pathways for genes affiliated with Chromosome 1p36 Deletion Syndrome

Compounds for genes affiliated with Chromosome 1p36 Deletion Syndrome

GO Terms for genes affiliated with Chromosome 1p36 Deletion Syndrome

Products for genes affiliated with Chromosome 1p36 Deletion Syndrome

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  • Proteins
  • Lysates
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Sources for Chromosome 1p36 Deletion Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet