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 57 75
Brmutd 57 75
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
Miscellaneous:
variable phenotype
de novo mutation
some patients have a de novo deletion of several genes on 1p32-p31

Inheritance:
isolated cases


HPO:

32
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 : 75 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 macrocephaly and low-set ears

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

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 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

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

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

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

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_001145511.1(NFIA): c.1070delC (p.Pro357Hisfs) deletion Pathogenic rs1060505054 GRCh37 Chromosome 1, 61869794: 61869794
3 NFIA NM_001145511.1(NFIA): c.1070delC (p.Pro357Hisfs) deletion Pathogenic rs1060505054 GRCh38 Chromosome 1, 61404122: 61404122
4 NFIA NM_005595.4(NFIA): c.297dup (p.Pro100Thrfs) duplication Likely pathogenic GRCh38 Chromosome 1, 61088418: 61088418
5 NFIA NM_005595.4(NFIA): c.297dup (p.Pro100Thrfs) duplication Likely pathogenic GRCh37 Chromosome 1, 61554090: 61554090
6 NFIA NFIA, 109-KB DEL deletion Pathogenic

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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