Porencephaly-microcephaly-bilateral congenital cataract syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HDBSCC
Number of Symptoms 24
OrphanetNr: 306547
OMIM Id: 613730
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with a central nervous system malformation as major feature
 -Rare genetic disease
Other syndrome with a central nervous system malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008689) Bilateral cryptorchidism 38 / 7739
2
 (HPO:0000086) Ectopic kidney rare [HPO:skoehler] 29 / 7739
3
 (HPO:0000077) Abnormality of the kidney 73 / 7739
4
 (HPO:0000028) Cryptorchidism rare [HPO:skoehler] 347 / 7739
5
 (HPO:0000800) Cystic renal dysplasia rare [HPO:skoehler] 31 / 7739
6
 (HPO:0005484) Postnatal microcephaly 32 / 7739
7
 (HPO:0000519) Congenital cataract 73 / 7739
8
 (HPO:0000518) Cataract 454 / 7739
9
 (HPO:0001347) Hyperreflexia 363 / 7739
10
 (HPO:0001257) Spasticity 251 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0001250) Seizures 1245 / 7739
13
 (HPO:0002240) Hepatomegaly 467 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (HPO:0002119) Ventriculomegaly 253 / 7739
16
 (HPO:0003577) Congenital onset 133 / 7739
17
 (OMIM) Subependymal calcifications 1 / 7739
18
 (OMIM) Intraparenchymal brain hemorrhage, multifocal 1 / 7739
19
 (OMIM) Developmental delay, profound 6 / 7739
20
 (OMIM) Atrophic pons (in some) 1 / 7739
21
 (OMIM) Cystic destruction of brain tissue, including basal ganglia 1 / 7739
22
 (HPO:0001321) Cerebellar hypoplasia rare [HPO:skoehler] 114 / 7739
23
 (OMIM) Reduced white matter volume 3 / 7739
24
 (OMIM) Porencephalic changes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Mochida et al. (2010) reported a highly consanguineous Saudi Arabian family in which 8 individuals had a syndrome characterized by congenital cataracts and severe brain abnormalities apparently resulting from hemorrhagic destruction of the brain tissue, including the cerebral ...
Molecular genetics OMIM By genomewide linkage analysis followed by candidate gene sequencing of a Saudi Arabian family with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts, Mochida et al. (2010) identified a homozygous loss-of-function mutation in the JAM3 gene ...