Aliases & Classifications for Nfia-Related Disorder

MalaCards integrated aliases for Nfia-Related Disorder:

Name: Nfia-Related Disorder 24
Nfia Haploinsufficiency 24
Nfia-Related Disorders 6

Summaries for Nfia-Related Disorder

MalaCards based summary : Nfia-Related Disorder, also known as nfia haploinsufficiency, is related to hydrocephalus and strabismus. An important gene associated with Nfia-Related Disorder is NFIA (Nuclear Factor I A). Affiliated tissues include brain and testes.

GeneReviews: NBK542336

Related Diseases for Nfia-Related Disorder

Diseases related to Nfia-Related Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus 10.3
2 strabismus 10.1
3 vesicoureteral reflux 1 10.1
4 hydrocephalus, congenital, 1 10.1
5 brain malformations with or without urinary tract defects 10.1
6 hydronephrosis 10.1
7 craniosynostosis 10.1
8 mechanical strabismus 10.1
9 hypotonia 10.1
10 seizure disorder 10.1
11 hypertelorism 10.1
12 chromosome 1p32-p31 deletion syndrome 10.1

Graphical network of the top 20 diseases related to Nfia-Related Disorder:



Diseases related to Nfia-Related Disorder

Symptoms & Phenotypes for Nfia-Related Disorder

Drugs & Therapeutics for Nfia-Related Disorder

Search Clinical Trials , NIH Clinical Center for Nfia-Related Disorder

Genetic Tests for Nfia-Related Disorder

Anatomical Context for Nfia-Related Disorder

MalaCards organs/tissues related to Nfia-Related Disorder:

40
Brain, Testes

Publications for Nfia-Related Disorder

Articles related to Nfia-Related Disorder:

(show all 17)
# Title Authors PMID Year
1
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series. 24
28941020 2017
2
Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene. 24
28452798 2017
3
Clinical relevance of small copy-number variants in chromosomal microarray clinical testing. 24
27632688 2017
4
CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes. 24
26848311 2016
5
Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability. 24
26997977 2016
6
Familial craniosynostosis associated with a microdeletion involving the NFIA gene. 24
25714559 2015
7
Truncating mutation in NFIA causes brain malformation and urinary tract defects. 24
27081522 2015
8
Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects. 24
24657733 2014
9
An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects. 24
24462883 2014
10
De novo gene disruptions in children on the autistic spectrum. 24
22542183 2012
11
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. 24
22031302 2011
12
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. 24
22030051 2011
13
A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum. 24
19763616 2010
14
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. 24
17530927 2007
15
Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation. 24
15368480 2004
16
Interstitial microdeletion of chromosome 1p in two siblings. 24
12210325 2002
17
NFIA-Related Disorder 61
31194316 2019

Variations for Nfia-Related Disorder

ClinVar genetic disease variations for Nfia-Related Disorder:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NFIA NM_001134673.4(NFIA):c.220C>T (p.Arg74Ter)SNV Pathogenic 523874 rs1553149182 1:61554013-61554013 1:61088341-61088341

Expression for Nfia-Related Disorder

Search GEO for disease gene expression data for Nfia-Related Disorder.

Pathways for Nfia-Related Disorder

GO Terms for Nfia-Related Disorder

Sources for Nfia-Related Disorder

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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