BRMUTD
MCID: BRN134
MIFTS: 36

Brain Malformations with or Without Urinary Tract Defects (BRMUTD)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Brain Malformations with or Without Urinary Tract Defects

MalaCards integrated aliases for Brain Malformations with or Without Urinary Tract Defects:

Name: Brain Malformations with or Without Urinary Tract Defects 57 12 73 6
Nfia-Related Disorder 12 25 15
Chromosome 1p32-P31 Deletion Syndrome 12 13
1p31p32 Microdeletion Syndrome 12 58
Brmutd 57 73
Nfia Haploinsufficiency 25
Nfia-Related Disorders 6
Monosomy 1p31p32 58
Del(1)(p31p32) 58

Characteristics:

Orphanet epidemiological data:

58
1p31p32 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation
some patients have a de novo deletion of several genes on 1p32-p31


HPO:

31
brain malformations with or without urinary tract defects:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Brain Malformations with or Without Urinary Tract Defects

Disease Ontology : 12 A syndrome that has material basis in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia.

MalaCards based summary : Brain Malformations with or Without Urinary Tract Defects, also known as nfia-related disorder, is related to hypertelorism and ataxia and polyneuropathy, adult-onset. An important gene associated with Brain Malformations with or Without Urinary Tract Defects is NFIA (Nuclear Factor I A), and among its related pathways/superpathways are RNA Polymerase III Transcription Initiation and FOXA1 transcription factor network. Affiliated tissues include brain and spinal cord, and related phenotypes are vesicoureteral reflux and macrocephaly

UniProtKB/Swiss-Prot : 73 Brain malformations with or without urinary tract defects: A syndrome characterized by corpus callosum hypoplasia or agenesis, hydrocephalus or ventricular enlargement, developmental delay, and urinary tract defects.

More information from OMIM: 613735
GeneReviews: NBK542336

Related Diseases for Brain Malformations with or Without Urinary Tract Defects

Diseases related to Brain Malformations with or Without Urinary Tract Defects via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 hypertelorism 10.3
2 ataxia and polyneuropathy, adult-onset 10.3
3 hydrocephalus 10.3
4 tremor 10.3
5 strabismus 10.0
6 vesicoureteral reflux 1 10.0
7 urinary tract infection 10.0
8 hydronephrosis 10.0
9 acute cystitis 10.0
10 craniosynostosis 10.0
11 mechanical strabismus 10.0
12 hypotonia 10.0
13 seizure disorder 10.0
14 high-grade astrocytoma 9.8 NFIB NFIA
15 marshall-smith syndrome 9.7 NFIX NFIB NFIA

Graphical network of the top 20 diseases related to Brain Malformations with or Without Urinary Tract Defects:



Diseases related to Brain Malformations with or Without Urinary Tract Defects

Symptoms & Phenotypes for Brain Malformations with or Without Urinary Tract Defects

Human phenotypes related to Brain Malformations with or Without Urinary Tract Defects:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 31 frequent (33%) HP:0000076
2 macrocephaly 31 HP:0000256
3 intellectual disability 31 HP:0001249
4 agenesis of corpus callosum 31 HP:0001274
5 global developmental delay 31 HP:0001263
6 inguinal hernia 31 HP:0000023
7 short nose 31 HP:0003196
8 anteverted nares 31 HP:0000463
9 cognitive impairment 31 HP:0100543
10 low-set ears 31 HP:0000369
11 narrow mouth 31 HP:0000160
12 hydronephrosis 31 HP:0000126
13 thin upper lip vermilion 31 HP:0000219
14 ventriculomegaly 31 HP:0002119
15 renal hypoplasia 31 HP:0000089
16 broad forehead 31 HP:0000337
17 cutis marmorata 31 HP:0000965
18 hypoplasia of the corpus callosum 31 HP:0002079
19 syringomyelia 31 HP:0003396
20 generalized hypotonia 31 HP:0001290
21 short chin 31 HP:0000331
22 arnold-chiari type i malformation 31 HP:0007099
23 broad face 31 HP:0000283
24 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
macrocephaly

Muscle Soft Tissue:
inguinal hernia
hypotonia

Genitourinary Kidneys:
hydronephrosis
hypoplastic kidneys
urinary tract defects

Skin Nails Hair Skin:
cutis marmorata

Head And Neck Nose:
anteverted nostrils
small nose

Neurologic Central Nervous System:
intellectual disability
global developmental delay
cognitive impairment
ventriculomegaly
hypoplasia of the corpus callosum
more
Head And Neck Ears:
low-set ears
dysplastic helices

Head And Neck Face:
broad forehead
broad face
small chin

Head And Neck Mouth:
thin upper lip
small mouth

Genitourinary Bladder:
vesicoureteral reflux (variable)

Clinical features from OMIM®:

613735 (Updated 05-Mar-2021)

Drugs & Therapeutics for Brain Malformations with or Without Urinary Tract Defects

Search Clinical Trials , NIH Clinical Center for Brain Malformations with or Without Urinary Tract Defects

Genetic Tests for Brain Malformations with or Without Urinary Tract Defects

Anatomical Context for Brain Malformations with or Without Urinary Tract Defects

MalaCards organs/tissues related to Brain Malformations with or Without Urinary Tract Defects:

40
Brain, Spinal Cord

Publications for Brain Malformations with or Without Urinary Tract Defects

Articles related to Brain Malformations with or Without Urinary Tract Defects:

(show all 19)
# Title Authors PMID Year
1
Familial craniosynostosis associated with a microdeletion involving the NFIA gene. 6 57 25
25714559 2015
2
Truncating mutation in NFIA causes brain malformation and urinary tract defects. 25 57 6
27081522 2015
3
An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects. 57 6 25
24462883 2014
4
Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene. 57 25
28452798 2017
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. 25 57
26997977 2016
6
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. 25 57
19763616 2010
7
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. 57 25
17530927 2007
8
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. 57 25
15368480 2004
9
Interstitial microdeletion of chromosome 1p in two siblings. 57 25
12210325 2002
10
Second reported patient with del(1)(p32.1p32.3) and similar clinical features suggesting a recognizable chromosomal syndrome. 57
12955770 2003
11
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series. 25
28941020 2017
12
Clinical relevance of small copy-number variants in chromosomal microarray clinical testing. 25
27632688 2017
13
CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes. 25
26848311 2016
14
Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects. 25
24657733 2014
15
De novo gene disruptions in children on the autistic spectrum. 25
22542183 2012
16
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. 25
22031302 2011
17
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. 25
22030051 2011
18
Pathogenic nonsense variant in NFIB in another patient with dysmorphism, Autism Spectrum Disorder, agenesis of the corpus callosum, and intellectual disability. 61
33130023 2020
19
NFIA-Related Disorder 61
31194316 2019

Variations for Brain Malformations with or Without Urinary Tract Defects

ClinVar genetic disease variations for Brain Malformations with or Without Urinary Tract Defects:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NFIA NM_001134673.4(NFIA):c.1094del (p.Pro365fs) Deletion Pathogenic 417968 rs1060505054 1:61869793-61869793 1:61404121-61404121
2 NFIA NG_011787.1:g.(205313_260238)_(334455_354191)del Deletion Pathogenic 417967 1:61277586-61426464
3 NFIA NM_001134673.4(NFIA):c.70C>T (p.Arg24Ter) SNV Pathogenic 420999 rs1064794841 1:61553863-61553863 1:61088191-61088191
4 NFIA NM_001134673.4(NFIA):c.28-2A>G SNV Pathogenic 976669 1:61553819-61553819 1:61088147-61088147
5 NFIA NC_000001.10:g.61497698_61607171del Deletion Pathogenic 445152
6 DHCR24 GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1 copy number loss Pathogenic 981205 1:53675707-66644963
7 NFIA NM_001134673.4(NFIA):c.352G>C (p.Asp118His) SNV Likely pathogenic 800728 rs1570123287 1:61554145-61554145 1:61088473-61088473
8 NFIA NM_001134673.4(NFIA):c.1228C>T (p.Gln410Ter) SNV Likely pathogenic 931857 1:61869928-61869928 1:61404256-61404256
9 NFIA NM_001134673.4(NFIA):c.297dup (p.Pro100fs) Duplication Likely pathogenic 435980 rs1553149202 1:61554084-61554085 1:61088412-61088413
10 NFIA NM_001134673.4(NFIA):c.373A>G (p.Lys125Glu) SNV Likely pathogenic 617624 rs769522583 1:61554166-61554166 1:61088494-61088494
11 NFIA NM_001134673.4(NFIA):c.220C>T (p.Arg74Ter) SNV not provided 523874 rs1553149182 1:61554013-61554013 1:61088341-61088341

Expression for Brain Malformations with or Without Urinary Tract Defects

Search GEO for disease gene expression data for Brain Malformations with or Without Urinary Tract Defects.

Pathways for Brain Malformations with or Without Urinary Tract Defects

GO Terms for Brain Malformations with or Without Urinary Tract Defects

Biological processes related to Brain Malformations with or Without Urinary Tract Defects according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.26 THAP3 NFIX NFIB NFIA
2 DNA replication GO:0006260 8.8 NFIX NFIB NFIA

Molecular functions related to Brain Malformations with or Without Urinary Tract Defects according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.26 NFIX NFIB NFIA MYEF2
2 DNA binding GO:0003677 9.02 THAP3 NFIX NFIB NFIA MYEF2

Sources for Brain Malformations with or Without Urinary Tract Defects

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....