loading...| Preferred Name |
CYSTINURIA |
| Synonyms |
CSNU3, FORMERLY |
| ID |
http://purl.bioontology.org/ontology/OMIM/220100 |
| altLabel |
CSNU3, FORMERLY CYSTINURIA, TYPE III, FORMERLY CYSTINURIA, TYPE NON-I, FORMERLY CSNU CYSTINURIA, TYPE I, FORMERLY CYSTINURIA, TYPE A/B CYSTINURIA, TYPE A CYSTINURIA, TYPE B CYSTINURIA, TYPE II, FORMERLY CSNU1, FORMERLY |
| cui |
C1857388 C1857389 C1857390 C0010691 |
| Gene Locus |
19q13.1 |
| Gene Symbol |
CSNU3 SLC7A9 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU037365 http://purl.bioontology.org/ontology/OMIM/MTHU000623 http://purl.bioontology.org/ontology/OMIM/MTHU007103 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
600918 238200 |
| notation |
220100 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
CYSTINURIA |
| Scope Statement |
Caused by mutation in the solute carrier family 3 (cystine, dibasic, and neutral amino acid transporter), member 1 gene (SLC3A1, 104614.0001) [MOLECULAR BASIS] Caused by mutation in the solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 gene (SLC7A9, 604144.0001) [MOLECULAR BASIS] Variable severity [MISCELLANEOUS] Some heterozygotes may have increased urinary excretion of cystine and may develop stones [MISCELLANEOUS] Both recessive and dominant inheritance have been reported [MISCELLANEOUS] Onset in first or second decade [MISCELLANEOUS] |
| tui |
T047 |