MCID: HMR018
MIFTS: 22

Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts

Categories: Genetic diseases, Neuronal diseases, Fetal 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 37 29 13 6 73
Hdbscc 57 75
Hemorrhagic Destruction of the Brain with Subependymal Calcification and Cataracts 75
Hemorrhagic Destruction of the Brain, Subependymal Calcification, Cataracts 40
Porencephaly-Microcephaly-Bilateral Congenital Cataract Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
porencephaly-microcephaly-bilateral congenital cataract syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hemorrhagic destruction of the brain, subependymal calcification, and cataracts:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 muscle spasticity and seizures. 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 seizures and spasticity

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)

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

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
ventriculomegaly
developmental delay, profound
more
Head And Neck Head:
microcephaly, postnatal

GenitourinaryInternal GenitaliaMale:
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

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 spasticity 32 HP:0001257
3 hyperreflexia 32 HP:0001347
4 cataract 32 HP:0000518
5 global developmental delay 32 HP:0001263
6 hepatomegaly 32 HP:0002240
7 ectopic kidney 32 occasional (7.5%) HP:0000086
8 cryptorchidism 32 occasional (7.5%) HP:0000028
9 ventriculomegaly 32 HP:0002119
10 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
11 postnatal microcephaly 32 HP:0005484
12 cystic renal dysplasia 32 occasional (7.5%) HP:0000800

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


muscle spasticity, seizures

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:

41
Brain, Kidney, Pons

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 JAM3 p.Glu116Lys VAR_069529 rs397515439
2 JAM3 p.Cys219Tyr VAR_069530 rs397515438

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

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 JAM3 JAM3, IVS5DS, G-T, +1 single nucleotide variant Pathogenic
2 JAM3 NM_032801.4(JAM3): c.656G> A (p.Cys219Tyr) single nucleotide variant Pathogenic rs397515438 GRCh37 Chromosome 11, 134015884: 134015884
3 JAM3 NM_032801.4(JAM3): c.656G> A (p.Cys219Tyr) single nucleotide variant Pathogenic rs397515438 GRCh38 Chromosome 11, 134145989: 134145989
4 JAM3 NM_032801.4(JAM3): c.346G> A (p.Glu116Lys) single nucleotide variant Pathogenic rs397515439 GRCh37 Chromosome 11, 134014225: 134014225
5 JAM3 NM_032801.4(JAM3): c.346G> A (p.Glu116Lys) single nucleotide variant Pathogenic rs397515439 GRCh38 Chromosome 11, 134144330: 134144330
6 JAM3 NM_032801.4(JAM3): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs397514678 GRCh37 Chromosome 11, 133938980: 133938980
7 JAM3 NM_032801.4(JAM3): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs397514678 GRCh38 Chromosome 11, 134069085: 134069085
8 JAM3 NM_032801.4(JAM3): c.410-14_410-13insCT insertion Benign rs3216140 GRCh38 Chromosome 11, 134144778: 134144779
9 JAM3 NM_032801.4(JAM3): c.410-14_410-13insCT insertion Benign rs3216140 GRCh37 Chromosome 11, 134014673: 134014674
10 JAM3 NM_032801.4(JAM3): c.843-3T> C single nucleotide variant Benign rs610382 GRCh37 Chromosome 11, 134018656: 134018656
11 JAM3 NM_032801.4(JAM3): c.843-3T> C single nucleotide variant Benign rs610382 GRCh38 Chromosome 11, 134148761: 134148761

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:

37
# 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 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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