Cytoscape Web
Click node...

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
1 OMIM reference -
1 associated gene
1 connected disease
11 signs/symptoms
Disease Type of connection
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Synonym(s):
- FHHNC with severe ocular involvement
- Hypercalciuria - bilateral macular coloboma
- Meier-Blumberg-Imahorn syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CLDN19 Q8N6F1610036
Very frequent
- Autosomal recessive inheritance
- Myopia
- Nystagmus
- Phosphocalcic metabolism anomalies
- Renal disease / nephropathy
- Retinitis pigmentosa / retinal pigmentary changes
- Retinoschisis / retinal / chorioretinal coloboma
- Urinary / renal lithiasis / kidney stones / nephritic colic

Frequent
- Hematuria / microhematuria
- Inguinal / inguinoscrotal / crural hernia

Occasional
- Umbilical hernia