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Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
1 OMIM reference -
1 associated gene
8 signs/symptoms
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

CLDN16
(UniProt - OMIM)
 APP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CLDN16
(0.56)
APP


Citations in the biomedical literature:


Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
CLDN16
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
APP



Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Synonym(s):
- FHHNC without severe ocular involvement
- HOMG3
- Renal hypomagnesemia type 3
Synonym(s):
- HCHWA, Dutch type
- HCHWA-D
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: young adult
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C537944 / D028243
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Very frequent
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline

Frequent
- Intracranial / cerebral calcifications
- Seizures / epilepsy / absences / spasms / status epilepticus
- Transient cerebral ischemia / stroke

Occasional
- Early death / lethality


Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

(no data available)