Cytoscape Web
Click node...

Hyperphosphatasia-intellectual deficiency syndrome
4 OMIM references -
4 associated genes
9 connected diseases
No signs/symptoms info
Disease Type of connection
Familial isolated dilated cardiomyopathy
Muscular dystrophy, Selcen type
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- HPMR
- Mabry syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
4 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
PGAP2 Q9UHJ9615187
PGAP3 Q96FM1611801
PIGO Q8TEQ8614730
PIGV Q9NUD9610274
No signs/symptoms info available.