Disorder "Familial Hypocalciuric Hypercalcemia"
Found 1 record
Disorder information
Disorder name:
Familial Hypocalciuric Hypercalcemia
Disoder ID:
OMIM entry:
Synonyms:
FBH,FBHH,FHH,familial benign hypercalcemia,familial benign hypocalciuric hypercalcemia
Definition:
A hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered susceptibility(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SPINK1 | SPINK1:c.101A>G(p.Asn34Ser) | Expressivity | Altered susceptibility | Pedigree analysis | SPINK1 mutations act as disease modifier and suggests an even more complex genetic model in SPINK1 related chronic pancreatitis.more | more |
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