BRMUTD
MCID: BRN134
MIFTS: 25

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 74
Brmutd 57 74
1p31p32 Microdeletion Syndrome 59
Monosomy 1p31p32 59
Del(1)(p31p32) 59

Characteristics:

Orphanet epidemiological data:

59
1p31p32 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
brain malformations with or without urinary tract defects:
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

OMIM 57 613735
ICD10 via Orphanet 34 Q93.5
Orphanet 59 ORPHA401986

Summaries for Brain Malformations with or Without Urinary Tract Defects

UniProtKB/Swiss-Prot : 74 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.

MalaCards based summary : Brain Malformations with or Without Urinary Tract Defects, also known as brmutd, is related to chromosome 1p32-p31 deletion syndrome. An important gene associated with Brain Malformations with or Without Urinary Tract Defects is NFIA (Nuclear Factor I A). Affiliated tissues include brain, kidney and spinal cord, and related phenotypes are vesicoureteral reflux and macrocephaly

More information from OMIM: 613735

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:

# Related Disease Score Top Affiliating Genes
1 chromosome 1p32-p31 deletion syndrome 11.4

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

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

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 32 frequent (33%) HP:0000076
2 macrocephaly 32 HP:0000256
3 low-set ears 32 HP:0000369
4 agenesis of corpus callosum 32 HP:0001274
5 intellectual disability 32 HP:0001249
6 seizures 32 HP:0001250
7 inguinal hernia 32 HP:0000023
8 global developmental delay 32 HP:0001263
9 short nose 32 HP:0003196
10 anteverted nares 32 HP:0000463
11 cognitive impairment 32 HP:0100543
12 generalized hypotonia 32 HP:0001290
13 narrow mouth 32 HP:0000160
14 ventriculomegaly 32 HP:0002119
15 broad forehead 32 HP:0000337
16 hydronephrosis 32 HP:0000126
17 renal hypoplasia 32 HP:0000089
18 thin upper lip vermilion 32 HP:0000219
19 hypoplasia of the corpus callosum 32 HP:0002079
20 cutis marmorata 32 HP:0000965
21 short chin 32 HP:0000331
22 syringomyelia 32 HP:0003396
23 broad face 32 HP:0000283
24 arnold-chiari type i malformation 32 HP:0007099

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
intellectual disability
global developmental delay
cognitive impairment
ventriculomegaly
hypoplasia of the corpus callosum
more
Head And Neck Face:
broad forehead
broad face
small chin

Skin Nails Hair Skin:
cutis marmorata

Head And Neck Nose:
anteverted nostrils
small nose

Head And Neck Ears:
low-set ears
dysplastic helices

Muscle Soft Tissue:
inguinal hernia
hypotonia

Genitourinary Kidneys:
hydronephrosis
hypoplastic kidneys
urinary tract defects

Head And Neck Mouth:
thin upper lip
small mouth

Genitourinary Bladder:
vesicoureteral reflux (variable)

Clinical features from OMIM:

613735

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:

41
Brain, Kidney, Spinal Cord

Publications for Brain Malformations with or Without Urinary Tract Defects

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

# Title Authors PMID Year
1
Familial craniosynostosis associated with a microdeletion involving the NFIA gene. 8 71
25714559 2015
2
Truncating mutation in NFIA causes brain malformation and urinary tract defects. 8 71
27081522 2015
3
An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects. 8 71
24462883 2014
4
Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene. 8
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. 8
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. 8
19763616 2010
7
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. 8
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. 8
15368480 2004
9
Second reported patient with del(1)(p32.1p32.3) and similar clinical features suggesting a recognizable chromosomal syndrome. 8
12955770 2003
10
Interstitial microdeletion of chromosome 1p in two siblings. 8
12210325 2002

Variations for Brain Malformations with or Without Urinary Tract Defects

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NFIA NG_011787.1: g.(205313_260238)_(334455_354191)del deletion Pathogenic
2 NFIA NM_001145511.2(NFIA): c.1070del (p.Pro357fs) deletion Pathogenic rs1060505054 1:61869794-61869794 1:61404122-61404122
3 NFIA NFIA, 109-KB DEL deletion Pathogenic
4 deletion Pathogenic
5 NFIA NM_001145511.2(NFIA): c.46C> T (p.Arg16Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1064794841 1:61553863-61553863 1:61088191-61088191
6 NFIA NM_001145511.2(NFIA): c.273dup (p.Pro92fs) duplication Likely pathogenic rs1553149202 1:61554090-61554090 1:61088418-61088418
7 NFIA NM_001145511.2(NFIA): c.349A> G (p.Lys117Glu) single nucleotide variant Likely pathogenic 1:61554166-61554166 1:61088494-61088494

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

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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