Details of Disease

General Information of Disease (ID: DIS173H2)

Disease Name Porencephaly-microcephaly-bilateral congenital cataract syndrome
Synonyms HDBSCC; hemorrhagic destruction of the brain, subependymal calcification, and cataracts; porencephaly-microcephaly-bilateral congenital cataract syndrome
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISYKSRF: Genetic disease
DIS173H2: Porencephaly-microcephaly-bilateral congenital cataract syndrome
Disease Identifiers
MONDO ID
MONDO_0013394
UMLS CUI
C3151000
OMIM ID
613730
MedGen ID
462350
Orphanet ID
306547

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
JAM3 OTX0F9QL Strong Autosomal recessive [1]
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References

1 Cytogenetic analysis of primary neuroblastoma with del(1), del(14), hsr, and dmin chromosomes. Cancer Genet Cytogenet. 1991 Sep;55(2):231-4. doi: 10.1016/0165-4608(91)90082-6.