renal hypomagnesemia 5 with ocular involvement

Term ID

DOID:0060881

Synonyms

• bilateral macular coloboma with hypercalciuria
• familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement
• FHHNC with severe ocular involvement
• hypercalciuria-bilateral macular coloboma syndrome
• Meier-Blumberg-Imahorn syndrome

Definition

A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. https://www.ncbi.nlm.nih.gov/pubmed/17033971

References

• MESH:C536148
• OMIM:248190
• ORDO:2196
• UMLS_CUI:C2931121

Ontology

Human Disease   ( DOID:0060881 )