BRMUTD
MCID: BRN134
MIFTS: 26

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 56 73
Brmutd 56 73
1p31p32 Microdeletion Syndrome 58
Monosomy 1p31p32 58
Del(1)(p31p32) 58

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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

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.

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, spinal cord and kidney, 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:

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

Symptoms via clinical synopsis from OMIM:

56
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:

40
Brain, Spinal Cord, Kidney

Publications for Brain Malformations with or Without Urinary Tract Defects

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

(show all 11)
# Title Authors PMID Year
1
Familial craniosynostosis associated with a microdeletion involving the NFIA gene. 56 6
25714559 2015
2
Truncating mutation in NFIA causes brain malformation and urinary tract defects. 56 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. 56 6
24462883 2014
4
NFIA-Related Disorder 6
31194316 2019
5
Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene. 56
28452798 2017
6
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. 56
26997977 2016
7
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. 56
19763616 2010
8
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. 56
17530927 2007
9
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. 56
15368480 2004
10
Second reported patient with del(1)(p32.1p32.3) and similar clinical features suggesting a recognizable chromosomal syndrome. 56
12955770 2003
11
Interstitial microdeletion of chromosome 1p in two siblings. 56
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NFIA NG_011787.1:g.(205313_260238)_(334455_354191)deldeletion Pathogenic 417967 1:61277586-61426464
2 NFIA NM_001134673.4(NFIA):c.1094del (p.Pro365fs)deletion Pathogenic 417968 rs1060505054 1:61869793-61869793 1:61404121-61404121
3 NFIA NFIA, 109-KB DELdeletion Pathogenic 445152
4 deletion Pathogenic 559456
5 NFIA NM_001134673.4(NFIA):c.70C>T (p.Arg24Ter)SNV Pathogenic/Likely pathogenic 420999 rs1064794841 1:61553863-61553863 1:61088191-61088191
6 NFIA NM_001134673.4(NFIA):c.297dup (p.Pro100fs)duplication Likely pathogenic 435980 rs1553149202 1:61554084-61554085 1:61088412-61088413
7 NFIA NM_001134673.4(NFIA):c.373A>G (p.Lys125Glu)SNV Likely pathogenic 617624 rs769522583 1:61554166-61554166 1:61088494-61088494
8 NFIA NM_001134673.4(NFIA):c.352G>C (p.Asp118His)SNV Likely pathogenic 800728 1:61554145-61554145 1:61088473-61088473

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
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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43 MeSH
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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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