HDBSCC
MCID: HMR018
MIFTS: 25

Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts (HDBSCC)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hemorrhagic Destruction of the Brain, Subependymal Calcification,...

MalaCards integrated aliases for Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts:

Name: Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 57 36 29 13 6 70
Hdbscc 57 72
Hemorrhagic Destruction of the Brain with Subependymal Calcification and Cataracts 72
Hemorrhagic Destruction of the Brain, Subependymal Calcification, Cataracts 39
Porencephaly-Microcephaly-Bilateral Congenital Cataract Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
porencephaly-microcephaly-bilateral congenital cataract syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death usually occurs in early infancy
resembles pseudo-torch syndrome


HPO:

31
hemorrhagic destruction of the brain, subependymal calcification, and cataracts:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Hemorrhagic Destruction of the Brain, Subependymal Calcification,...

UniProtKB/Swiss-Prot : 72 Hemorrhagic destruction of the brain with subependymal calcification and cataracts: A syndrome characterized by congenital cataracts and severe brain abnormalities apparently resulting from hemorrhagic destruction of the brain parenchyma, including the cerebral white matter and basal ganglia. Patients manifest profound developmental delay, and other neurologic features included seizures, spasticity, and hyperreflexia. The clinical course is very severe resulting in death in infancy. Brain imaging shows multifocal intraparenchymal hemorrhage with associated liquefaction and massive cystic degeneration, and calcification in the subependymal region and in brain tissue.

MalaCards based summary : Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts, is also known as hdbscc, and has symptoms including seizures and muscle spasticity. An important gene associated with Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts is JAM3 (Junctional Adhesion Molecule 3), and among its related pathways/superpathways is Tight junction. Affiliated tissues include brain, kidney and pons, and related phenotypes are cryptorchidism and ectopic kidney

OMIM® : 57 HDBSCC is an autosomal recessive disorder with a distinctive phenotype comprising hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Affected individuals have a catastrophic neurologic clinical course resulting in death in infancy (summary by Akawi et al., 2013). (613730) (Updated 05-Apr-2021)

KEGG : 36 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts is an autosomal-recessive syndrome with severe hemorrhagic destruction of the brain as a cardinal feature. A mutation in JAM3 that encodes tight-junction protein causes this syndrome.

Related Diseases for Hemorrhagic Destruction of the Brain, Subependymal Calcification,...

Symptoms & Phenotypes for Hemorrhagic Destruction of the Brain, Subependymal Calcification,...

Human phenotypes related to Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 31 occasional (7.5%) HP:0000028
2 ectopic kidney 31 occasional (7.5%) HP:0000086
3 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
4 cystic renal dysplasia 31 occasional (7.5%) HP:0000800
5 spasticity 31 HP:0001257
6 hyperreflexia 31 HP:0001347
7 cataract 31 HP:0000518
8 global developmental delay 31 HP:0001263
9 hepatomegaly 31 HP:0002240
10 ventriculomegaly 31 HP:0002119
11 postnatal microcephaly 31 HP:0005484
12 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
ventriculomegaly
developmental delay, profound
more
Head And Neck Head:
microcephaly, postnatal

Genitourinary Internal Genitalia Male:
cryptorchidism (1 patient)

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
cataracts, congenital

Genitourinary Kidneys:
renal anomalies (in some)
ectopic kidney (2 patients)
renal cystic dysplasia (1 patient)

Clinical features from OMIM®:

613730 (Updated 05-Apr-2021)

UMLS symptoms related to Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts:


seizures; muscle spasticity

Drugs & Therapeutics for Hemorrhagic Destruction of the Brain, Subependymal Calcification,...

Search Clinical Trials , NIH Clinical Center for Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts

Genetic Tests for Hemorrhagic Destruction of the Brain, Subependymal Calcification,...

Genetic tests related to Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts:

# Genetic test Affiliating Genes
1 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 29 JAM3

Anatomical Context for Hemorrhagic Destruction of the Brain, Subependymal Calcification,...

MalaCards organs/tissues related to Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts:

40
Brain, Kidney, Pons

Publications for Hemorrhagic Destruction of the Brain, Subependymal Calcification,...

Articles related to Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts:

# Title Authors PMID Year
1
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. 6 57
23255084 2013
2
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. 57 6
21109224 2010

Variations for Hemorrhagic Destruction of the Brain, Subependymal Calcification,...

ClinVar genetic disease variations for Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 JAM3 NM_032801.5(JAM3):c.656G>A (p.Cys219Tyr) SNV Pathogenic 41881 rs397515438 GRCh37: 11:134015884-134015884
GRCh38: 11:134145989-134145989
2 JAM3 NM_032801.5(JAM3):c.346G>A (p.Glu116Lys) SNV Pathogenic 41882 rs397515439 GRCh37: 11:134014225-134014225
GRCh38: 11:134144330-134144330
3 JAM3 NM_032801.5(JAM3):c.2T>G (p.Met1Arg) SNV Pathogenic 41883 rs397514678 GRCh37: 11:133938980-133938980
GRCh38: 11:134069085-134069085
4 JAM3 NM_032801.5(JAM3):c.1A>G (p.Met1Val) SNV Pathogenic 827781 rs774867496 GRCh37: 11:133938979-133938979
GRCh38: 11:134069084-134069084
5 JAM3 NM_032801.5(JAM3):c.612+1G>T SNV Pathogenic 30607 rs761700427 GRCh37: 11:134014890-134014890
GRCh38: 11:134144995-134144995
6 JAM3 NM_032801.5(JAM3):c.2T>A (p.Met1Lys) SNV Likely pathogenic 931312 GRCh37: 11:133938980-133938980
GRCh38: 11:134069085-134069085
7 JAM3 NM_032801.5(JAM3):c.843-3T>C SNV Benign 518240 rs610382 GRCh37: 11:134018656-134018656
GRCh38: 11:134148761-134148761
8 JAM3 NM_032801.5(JAM3):c.410-14_410-13insCT Insertion Benign 518239 rs3216140 GRCh37: 11:134014673-134014674
GRCh38: 11:134144778-134144779

UniProtKB/Swiss-Prot genetic disease variations for Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts:

72
# Symbol AA change Variation ID SNP ID
1 JAM3 p.Glu116Lys VAR_069529 rs397515439
2 JAM3 p.Cys219Tyr VAR_069530 rs397515438

Expression for Hemorrhagic Destruction of the Brain, Subependymal Calcification,...

Search GEO for disease gene expression data for Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts.

Pathways for Hemorrhagic Destruction of the Brain, Subependymal Calcification,...

Pathways related to Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts according to KEGG:

36
# Name Kegg Source Accession
1 Tight junction hsa04530

GO Terms for Hemorrhagic Destruction of the Brain, Subependymal Calcification,...

Sources for Hemorrhagic Destruction of the Brain, Subependymal Calcification,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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