MCID: CHR383
MIFTS: 11

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 74
1p31p32 Microdeletion Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060409
ICD10 34 Q93.5
UMLS 74 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 cerebellar ataxia, nonprogressive, with mental retardation. 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 11.3
2 cerebellar ataxia, nonprogressive, with mental retardation 9.6 NFIA CAMTA1

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

Sources for Chromosome 1p32-P31 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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