MCID: CHR383
MIFTS: 14

Chromosome 1p32-P31 Deletion Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosome 1p32-P31 Deletion Syndrome

MalaCards integrated aliases for Chromosome 1p32-P31 Deletion Syndrome:

Name: Chromosome 1p32-P31 Deletion Syndrome 12 15 71
1p31p32 Microdeletion Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060409
ICD10 32 Q93.5
UMLS 71 C3151036

Summaries for Chromosome 1p32-P31 Deletion Syndrome

MalaCards based summary : Chromosome 1p32-P31 Deletion Syndrome, also known as 1p31p32 microdeletion syndrome, is related to brain malformations with or without urinary tract defects and hydrocephalus, congenital, 1. An important gene associated with Chromosome 1p32-P31 Deletion Syndrome is DEL1P32P31 (Chromosome 1p32-P31 Deletion Syndrome). Affiliated tissues include brain.

Related Diseases for Chromosome 1p32-P31 Deletion Syndrome

Diseases related to Chromosome 1p32-P31 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 brain malformations with or without urinary tract defects 11.4
2 hydrocephalus, congenital, 1 10.3
3 nfia-related disorder 10.3
4 hypertelorism 10.2
5 strabismus 10.2
6 ataxia and polyneuropathy, adult-onset 10.2
7 aceruloplasminemia 10.2
8 hydrocephalus 10.2
9 mechanical strabismus 10.2
10 hypotonia 10.2
11 tremor 10.2

Graphical network of the top 20 diseases related to Chromosome 1p32-P31 Deletion Syndrome:



Diseases related to Chromosome 1p32-P31 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 1p32-P31 Deletion Syndrome

Drugs & Therapeutics for Chromosome 1p32-P31 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 1p32-P31 Deletion Syndrome

Genetic Tests for Chromosome 1p32-P31 Deletion Syndrome

Anatomical Context for Chromosome 1p32-P31 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 1p32-P31 Deletion Syndrome:

40
Brain

Publications for Chromosome 1p32-P31 Deletion Syndrome

Articles related to Chromosome 1p32-P31 Deletion Syndrome:

# Title Authors PMID Year
1
CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes. 61
26848311 2016
2
Truncating mutation in NFIA causes brain malformation and urinary tract defects. 61
27081522 2015
3
Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction. 61
22030051 2011

Variations for Chromosome 1p32-P31 Deletion Syndrome

Expression for Chromosome 1p32-P31 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 1p32-P31 Deletion Syndrome.

Pathways for Chromosome 1p32-P31 Deletion Syndrome

GO Terms for Chromosome 1p32-P31 Deletion Syndrome

Molecular functions related to Chromosome 1p32-P31 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA binding GO:0003729 8.62 MYEF2 C1QBP

Sources for Chromosome 1p32-P31 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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