HBMS
MCID: HRT037
MIFTS: 25

Heart and Brain Malformation Syndrome (HBMS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Heart and Brain Malformation Syndrome

MalaCards integrated aliases for Heart and Brain Malformation Syndrome:

Name: Heart and Brain Malformation Syndrome 58 76 6
Hbms 58 76
Malformation, Heart and Brain, Syndrome 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable features
death in early childhood may occur
three patients from 2 unrelated consanguineous families have been reported (last curated april 2016)


HPO:

33
heart and brain malformation syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Heart and Brain Malformation Syndrome

OMIM : 58 Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016). (616920)

MalaCards based summary : Heart and Brain Malformation Syndrome, also known as hbms, is related to bone mineral density quantitative trait locus 1 and neuroblastoma. An important gene associated with Heart and Brain Malformation Syndrome is SMG9 (SMG9 Nonsense Mediated MRNA Decay Factor). Affiliated tissues include brain, heart and eye, and related phenotypes are seizures and hypertelorism

UniProtKB/Swiss-Prot : 76 Heart and brain malformation syndrome: An autosomal recessive syndrome characterized by multiple congenital anomalies such as cardiac defects, brain malformations, including cerebellar vermis hypoplasia, hypoplastic corpus callosum and Dandy- Walker malformation, profoundly delayed psychomotor development, microphthalmia, and facial dysmorphism.

Related Diseases for Heart and Brain Malformation Syndrome

Diseases related to Heart and Brain Malformation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 bone mineral density quantitative trait locus 1 11.7
2 neuroblastoma 10.4
3 porphyria, acute intermittent 10.0
4 premature chromatid separation trait 10.0
5 prostate cancer 10.0
6 prostate cancer, hereditary, 8 10.0
7 anxiety 10.0
8 prostate cancer, hereditary, 6 10.0
9 leukemia 10.0
10 lymphoma 10.0
11 porphyria 10.0
12 t-cell leukemia 10.0
13 depression 10.0
14 osteoporotic fracture 10.0

Graphical network of the top 20 diseases related to Heart and Brain Malformation Syndrome:



Diseases related to Heart and Brain Malformation Syndrome

Symptoms & Phenotypes for Heart and Brain Malformation Syndrome

Human phenotypes related to Heart and Brain Malformation Syndrome:

33 (show all 38)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 hypertelorism 33 HP:0000316
3 low-set ears 33 HP:0000369
4 global developmental delay 33 HP:0001263
5 depressed nasal bridge 33 HP:0005280
6 wide nasal bridge 33 HP:0000431
7 microcephaly 33 HP:0000252
8 anteverted nares 33 HP:0000463
9 visual impairment 33 HP:0000505
10 gastroesophageal reflux 33 HP:0002020
11 prominent forehead 33 HP:0011220
12 thick lower lip vermilion 33 HP:0000179
13 everted lower lip vermilion 33 HP:0000232
14 prominent occiput 33 HP:0000269
15 growth delay 33 HP:0001510
16 high, narrow palate 33 HP:0002705
17 abnormality of the pinna 33 HP:0000377
18 microphthalmia 33 HP:0000568
19 polyhydramnios 33 HP:0001561
20 ventricular septal defect 33 HP:0001629
21 wide anterior fontanel 33 HP:0000260
22 camptodactyly of finger 33 HP:0100490
23 aplasia/hypoplasia of the corpus callosum 33 HP:0007370
24 dandy-walker malformation 33 HP:0001305
25 prominent metopic ridge 33 HP:0005487
26 generalized hypotonia 33 HP:0001290
27 hypoplasia of the corpus callosum 33 HP:0002079
28 interrupted aortic arch 33 HP:0011611
29 cerebral atrophy 33 HP:0002059
30 hand clenching 33 HP:0001188
31 posteriorly rotated ears 33 HP:0000358
32 muscular hypotonia of the trunk 33 HP:0008936
33 hyperactive deep tendon reflexes 33 HP:0006801
34 global brain atrophy 33 HP:0002283
35 narrow forehead 33 HP:0000341
36 delayed cns myelination 33 HP:0002188
37 cleft lip 33 HP:0410030
38 poor eye contact 33 HP:0000817

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
microphthalmia
poor eye contact
poor vision

Neurologic Central Nervous System:
hyperreflexia
dandy-walker malformation
cerebral atrophy
hypoplastic corpus callosum
seizures (in some patients)
more
Head And Neck Head:
prominent forehead
prominent occiput
narrow forehead
microcephaly (up to -6 sd)

Skeletal Skull:
wide anterior fontanel
prominent metopic suture

Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
low-set ears
posteriorly rotated ears
malformed ears

Head And Neck Nose:
depressed nasal bridge
anteverted nares
broad nasal bridge

Cardiovascular Heart:
ventricular septal defect

Head And Neck Mouth:
cleft lip
high-arched palate
everted lower lip
full lower lip

Growth Other:
poor growth

Clinical features from OMIM:

616920

Drugs & Therapeutics for Heart and Brain Malformation Syndrome

Search Clinical Trials , NIH Clinical Center for Heart and Brain Malformation Syndrome

Genetic Tests for Heart and Brain Malformation Syndrome

Anatomical Context for Heart and Brain Malformation Syndrome

MalaCards organs/tissues related to Heart and Brain Malformation Syndrome:

42
Brain, Heart, Eye

Publications for Heart and Brain Malformation Syndrome

Articles related to Heart and Brain Malformation Syndrome:

# Title Authors Year
1
Rhetoric of anonymity and property rights in human biological materials (HBMs). ( 16385796 )
2005

Variations for Heart and Brain Malformation Syndrome

ClinVar genetic disease variations for Heart and Brain Malformation Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMG9 NM_019108.3(SMG9): c.701+4A> G single nucleotide variant Likely pathogenic rs869312742 GRCh38 Chromosome 19, 43744768: 43744768
2 SMG9 NM_019108.3(SMG9): c.701+4A> G single nucleotide variant Likely pathogenic rs869312742 GRCh37 Chromosome 19, 44248920: 44248920
3 SMG9 NM_019108.3(SMG9): c.520_521delCC (p.Pro174Argfs) deletion Likely pathogenic rs869312741 GRCh37 Chromosome 19, 44251661: 44251662
4 SMG9 NM_019108.3(SMG9): c.520_521delCC (p.Pro174Argfs) deletion Likely pathogenic rs869312741 GRCh38 Chromosome 19, 43747509: 43747510

Expression for Heart and Brain Malformation Syndrome

Search GEO for disease gene expression data for Heart and Brain Malformation Syndrome.

Pathways for Heart and Brain Malformation Syndrome

GO Terms for Heart and Brain Malformation Syndrome

Sources for Heart and Brain Malformation Syndrome

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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