loading...| Preferred Name |
TROPICAL CALCIFIC PANCREATITIS |
|
| Synonyms |
TCP |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/608189 |
|
| altLabel |
TCP |
|
| cui |
C1842402 |
|
| Gene Locus |
5q32 |
|
| Gene Symbol |
SPINK1 PSTI PCTT TCP TATI |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU002403 http://purl.bioontology.org/ontology/OMIM/MTHU002407 http://purl.bioontology.org/ontology/OMIM/MTHU002409 http://purl.bioontology.org/ontology/OMIM/MTHU038873 http://purl.bioontology.org/ontology/OMIM/MTHU002408 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
608189 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
TROPICAL CALCIFIC PANCREATITIS |
|
| Scope Statement |
Occurs most often in developing countries in tropical regions [MISCELLANEOUS] Caused by mutation in the serine protease inhibitor, kazal-type-1 gene (SPINK1, 167790.0001) [MOLECULAR BASIS] Median age at onset is 21 years [MISCELLANEOUS] No phenotypic difference between patients who are homozygous or heterozygous for mutations in the SPINK1 gene [MISCELLANEOUS] |
|
| tui |
T047 |