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 57 72 36 29 6
Hbms 57 72
Malformation, Heart and Brain, Syndrome 39



57 (Updated 20-May-2021)
autosomal recessive

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


heart and brain malformation syndrome:
Inheritance autosomal recessive inheritance


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) (Updated 20-May-2021)

MalaCards based summary : Heart and Brain Malformation Syndrome, also known as hbms, is related to porphyria, acute intermittent and porphyria. An important gene associated with Heart and Brain Malformation Syndrome is SMG9 (SMG9 Nonsense Mediated MRNA Decay Factor). The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and bone marrow, and related phenotypes are seizure and global developmental delay

KEGG : 36 Heart and brain malformation syndrome (HBMS) is a multiple congenital anomaly syndrome, characterized by craniofacial dysmorphism, congenital heart disease, and brain malformation. Mutations in SMG9, encoding an essential component of nonsense-mediated decay (NMD) machinery, cause this disease.

UniProtKB/Swiss-Prot : 72 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 porphyria, acute intermittent 9.9
2 porphyria 9.9

Symptoms & Phenotypes for Heart and Brain Malformation Syndrome

Human phenotypes related to Heart and Brain Malformation Syndrome:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dandy-walker malformation
cerebral atrophy
hypoplastic corpus callosum
seizures (in some patients)
Head And Neck Eyes:
poor eye contact
poor vision

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

Skeletal Skull:
wide anterior fontanel
prominent metopic suture

Muscle Soft Tissue:

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

Head And Neck Head:
prominent forehead
prominent occiput
narrow forehead
microcephaly (up to -6 sd)

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 (Updated 20-May-2021)

Drugs & Therapeutics for Heart and Brain Malformation Syndrome

Drugs for Heart and Brain Malformation Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

# Name Status Phase Clinical Trials Cas Number PubChem Id
tannic acid Approved 1401-55-4
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Adiyaman University School of Health Completed NCT03899207
2 Effectiveness of Nutrition Education Intervention on Glycemic Control, and Other Diabetes-Related Outcomes of Patients With Type 2 Diabetes Mellitus In Basrah, Iraq. Completed NCT04433598
3 Health Belief Model for Empowering Parental Toothbrushing and Sugar Intake Control in Reducing Early Childhood Caries Among Young Children - a Cluster Randomized Controlled Trial Recruiting NCT04665219
4 Plan for Obtaining Informed Consent to Use Stored Human Biological Materials (HBM) for Currently Unspecified Analyses Active, not recruiting NCT00031408
5 An Interactive mHealth App for Better Glycemic Control in Families of Young Kids With T1D Active, not recruiting NCT03385265
6 Effects of Nutrition Counselling on Old Age People's Nutritional Status and Quality of Life in Bahir Dar City, North West Ethiopia Not yet recruiting NCT04746664

Search NIH Clinical Center for Heart and Brain Malformation Syndrome

Genetic Tests for Heart and Brain Malformation Syndrome

Genetic tests related to Heart and Brain Malformation Syndrome:

# Genetic test Affiliating Genes
1 Heart and Brain Malformation Syndrome 29 SMG9

Anatomical Context for Heart and Brain Malformation Syndrome

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

Heart, Brain, Bone Marrow, Bone, Eye, Liver, Breast

Publications for Heart and Brain Malformation Syndrome

Articles related to Heart and Brain Malformation Syndrome:

(show top 50) (show all 116)
# Title Authors PMID Year
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 57 6
27018474 2016
Blunt injury of liver: mechanical response of porcine liver in experimental impact test. 61
33482651 2021
Importance of impact boundary conditions and pre-crash arm position for the prediction of thoracic response to pendulum, side sled, and near side vehicle impacts. 61
33749446 2021
Proton Removal Kinetics That Govern the Hydrogen Peroxide Oxidation Activity of Heterogeneous Bioinorganic Platforms. 61
33621073 2021
Further delineation of SMG9-related heart and brain malformation syndrome. 61
33609422 2021
Multi-Scale Validation of Multiple Human Body Model Functional Spinal Units. 61
33332544 2020
Adaptation and Validation of the Health Belief Model Scale for Breast Self-Examination in Mexican Women. 61
32498024 2020
Comparing FE human body model rib geometry to population data. 61
32444978 2020
Biomechanical Responses and Injury Assessment of Post Mortem Human Subjects in Various Rear-facing Seating Configurations. 61
33636005 2020
An intervention based on the health belief model led to improvements in self-efficacy towards ERIPP participation and functional performance in club sport athletes: a pilot study. 61
32402758 2020
Development and evaluation of the health belief model scale for exercise. 61
32995376 2020
Novel developmental bases for the evolution of hypobranchial muscles in vertebrates. 61
32907560 2020
Simulation-based assessment of injury risk for an average male motorsport driver. 61
32856956 2020
Positioning human body models for crashworthiness using model order reduction. 61
32401046 2020
Diagnostic challenges of posterior fossa hemangioblastomas: Refining current radiological classification scheme. 61
32286416 2020
Validating diverse human body models against side impact tests with post-mortem human subjects. 61
31708242 2020
Donation of Human Biological Materials in the European Union: Commodifying Solidarity in the Era of the Biotechnological Revolution? 61
31702479 2019
Full-field characterization of helical Bloch modes guided in twisted coreless photonic crystal fiber. 61
31613260 2019
A hierarchical Bayesian Beta regression approach to study the effects of geographical genetic structure and spatial autocorrelation on species distribution range shifts. 61
30993910 2019
Health Belief Model Scale and Theory of Planned Behavior Scale to assess attitudes and perceptions of injury prevention program participation: An exploratory factor analysis. 61
30501955 2019
Protecting participants in health research: The South African Material Transfer Agreement. 61
31131804 2019
Retromedullary Hemangioblastoma Mimicking a Posterior Inferior Cerebellar Artery Aneurysm: Case Report and Literature Review. 61
30404062 2019
Detailed subject-specific FE rib modeling for fracture prediction. 61
31589083 2019
Evaluation of finite element human body models for use in a standardized protocol for pedestrian safety assessment. 61
31356121 2019
A priori prediction of the probability of survival in vehicle crashes using anthropomorphic test devices and human body models. 61
31194597 2019
Hemoglobin-Laden Microcapsules for Simulating Oxygen Dynamics of Biological Tissue. 61
33435058 2018
Identification, characterization and heparin binding capacity of a spore-wall, virulence protein from the shrimp microsporidian, Enterocytozoon hepatopenaei (EHP). 61
29530076 2018
A preliminary study of human model head and neck response to frontal loading in nontraditional occupant seating configurations. 61
29584505 2018
Development of hypobranchial muscles with special reference to the evolution of the vertebrate neck. 61
29468087 2018
Moving Beyond ERP Components: A Selective Review of Approaches to Integrate EEG and Behavior. 61
29632480 2018
Implementation and validation of the extended Hill-type muscle model with robust routing capabilities in LS-DYNA for active human body models. 61
28865494 2017
Home-based multidimensional survivorship programmes for breast cancer survivors. 61
28836379 2017
Modular use of human body models of varying levels of complexity: Validation of head kinematics. 61
28414545 2017
Evaluation of 6 and 10 Year-Old Child Human Body Models in Emergency Events. 61
28099505 2017
Performances of the PIPER scalable child human body model in accident reconstruction. 61
29135997 2017
Glycol chitosan/nanohydroxyapatite biocomposites for potential bone tissue engineering and regenerative medicine. 61
27086294 2016
Development, Evaluation, and Sensitivity Analysis of Parametric Finite Element Whole-Body Human Models in Side Impacts. 61
27871104 2016
An Objective Evaluation of Mass Scaling Techniques Utilizing Computational Human Body Finite Element Models. 61
27457051 2016
Cerebellar hemangioblastoma mimicking an aneurysm: A case report and literature review. 61
27698835 2016
Sensitivity, specificity, and interobserver variability of survey thoracic radiography for the detection of heart base masses in dogs. 61
27270062 2016
Health Belief Model Scale for Human Papilloma Virus and its Vaccination: Adaptation and Psychometric Testing. 61
26409648 2016
Hierarchical block matrices as efficient representations of chromosome topologies and their application for 3C data integration. 61
26685310 2016
Managing Human Tissue Transfer Across National Boundaries - An Approach from an Institution in South Africa. 61
25688848 2016
The Effect of Health Belief Model-Based Education on Knowledge and Prostate Cancer Screening Behaviors: A Randomized Controlled Trial. 61
26793731 2016
Finite element comparison of human and Hybrid III responses in a frontal impact. 61
26432065 2015
Inversion of hierarchical Bayesian models using Gaussian processes. 61
26048619 2015
Shewanella oneidensis cytochrome c maturation component CcmI is essential for heme attachment at the non-canonical motif of nitrite reductase NrfA. 61
25402661 2015
Head kinematics and shoulder biomechanics in shoulder impacts similar to pedestrian crashes--a THUMS study. 61
25287938 2015
Detection of BRAF V600 mutations in melanoma: evaluation of concordance between the Cobas® 4800 BRAF V600 mutation test and the methods used in French National Cancer Institute (INCa) platforms in a real-life setting. 61
25789737 2015
Perspectives of Women during Reproductive Years for Cervical Cancer Scans and Influencing Factors. 61
26514508 2015

Variations for Heart and Brain Malformation Syndrome

ClinVar genetic disease variations for Heart and Brain Malformation Syndrome:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMG9 NM_019108.4(SMG9):c.520_521del (p.Pro174fs) Deletion Pathogenic 224497 rs869312741 GRCh37: 19:44251661-44251662
GRCh38: 19:43747509-43747510
2 SMG9 NM_019108.4(SMG9):c.701+4A>G SNV Pathogenic 224498 rs869312742 GRCh37: 19:44248920-44248920
GRCh38: 19:43744768-43744768
3 SMG9 NM_019108.4(SMG9):c.1211-2A>G SNV Pathogenic 1032823 GRCh37: 19:44237606-44237606
GRCh38: 19:43733454-43733454
4 SMG9 NM_019108.4(SMG9):c.662T>C (p.Met221Thr) SNV Uncertain significance 1028630 GRCh37: 19:44248963-44248963
GRCh38: 19:43744811-43744811

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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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