MCID: HRT037
MIFTS: 23

Heart and Brain Malformation Syndrome

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 57 75 6
Hbms 57 75
Malformation, Heart and Brain, Syndrome 40

Characteristics:

OMIM:

57
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:

32
heart and brain malformation syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Heart and Brain Malformation Syndrome

OMIM : 57 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 thick lower lip vermilion and everted lower lip vermilion

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 bone mineral density quantitative trait locus 1 11.6
2 neuroblastoma 10.2
3 porphyria, acute intermittent 9.9
4 anxiety 9.9
5 porphyria 9.9
6 depression 9.9
7 osteoporotic fracture 9.9

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Heart and Brain Malformation Syndrome:

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

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:

41
Brain, Heart, Eye

Publications for Heart and Brain Malformation Syndrome

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 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
Content
Loading form....