BRMUTD
MCID: BRN134
MIFTS: 22

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 58 76
Brmutd 58 76
1p31p32 Microdeletion Syndrome 60
Monosomy 1p31p32 60
Del(1)(p31p32) 60

Characteristics:

Orphanet epidemiological data:

60
1p31p32 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
brain malformations with or without urinary tract defects:
Onset and clinical course phenotypic variability
Inheritance sporadic


Classifications:



Summaries for Brain Malformations with or Without Urinary Tract Defects

UniProtKB/Swiss-Prot : 76 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

Description 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 11.3

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

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

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

Symptoms via clinical synopsis from OMIM:

58
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 Mouth:
small mouth
thin upper lip

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 Nose:
anteverted nostrils
small nose

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:

42
Brain, Kidney, Spinal Cord

Publications for Brain Malformations with or Without Urinary Tract Defects

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 Assembly Location
1 NFIA NG_011787.1: g.(205313_260238)_(334455_354191)del deletion Pathogenic GRCh38 Chromosome 1, 61277586: 61426464
2 NFIA NM_001134673.3(NFIA): c.1094delC (p.Pro365Hisfs) deletion Pathogenic rs1060505054 GRCh37 Chromosome 1, 61869794: 61869794
3 NFIA NM_001134673.3(NFIA): c.1094delC (p.Pro365Hisfs) deletion Pathogenic rs1060505054 GRCh38 Chromosome 1, 61404122: 61404122
4 NFIA NM_005595.4(NFIA): c.297dup (p.Pro100Thrfs) duplication Likely pathogenic rs1553149202 GRCh38 Chromosome 1, 61088418: 61088418
5 NFIA NM_005595.4(NFIA): c.297dup (p.Pro100Thrfs) duplication Likely pathogenic rs1553149202 GRCh37 Chromosome 1, 61554090: 61554090
6 NFIA NFIA, 109-KB DEL deletion Pathogenic
7 NC_000001.9: g.60109298_62267615del2158318 deletion Pathogenic NCBI36 Chromosome 1, 60109298: 62267615
8 NFIA NM_001134673.4(NFIA): c.373A> G (p.Lys125Glu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 61088494: 61088494
9 NFIA NM_001134673.4(NFIA): c.373A> G (p.Lys125Glu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 61554166: 61554166

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
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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