MCID: CHR383
MIFTS: 10

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 13 15 73
1p31p32 Microdeletion Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060409
ICD10 33 Q93.5
UMLS 73 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. An important gene associated with Chromosome 1p32-P31 Deletion Syndrome is NFIA (Nuclear Factor I A).

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:

# Related Disease Score Top Affiliating Genes
1 brain malformations with or without urinary tract defects 11.1

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

Publications for Chromosome 1p32-P31 Deletion Syndrome

Articles related to Chromosome 1p32-P31 Deletion Syndrome:

# Title Authors 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. ( 26848311 )
2016
2
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. ( 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 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 8.62 CAMTA1 NFIA

Sources for Chromosome 1p32-P31 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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