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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/256300
http://purl.bioontology.org/ontology/OMIM/256300
|
|---|---|
| Preferred Name | NEPHROTIC SYNDROME, TYPE 1 |
| Synonyms |
FINNISH CONGENITAL NEPHROSIS
CNF
NEPHROTIC SYNDROME, CONGENITAL
NPHS1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
FINNISH CONGENITAL NEPHROSIS
CNF
NEPHROTIC SYNDROME, CONGENITAL
NPHS1
|
|---|---|
| prefLabel | NEPHROTIC SYNDROME, TYPE 1
|
| Gene Symbol |
NPHN
NPHS1
|
| Scope Statement | Rapidly progressive [MISCELLANEOUS]
End-stage renal failure in first decade [MISCELLANEOUS]
Not responsive to steroid treatment [MISCELLANEOUS]
Some patients may have a milder phenotype [MISCELLANEOUS]
Caused by mutation in the nephrin gene (NPHS1, 602716.0001) [MOLECULAR BASIS]
Onset in utero [MISCELLANEOUS]
Incidence of 12.2 per 100,000 in Finland [MISCELLANEOUS]
Early death without kidney transplant [MISCELLANEOUS]
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|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 19q13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 256300
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0403399
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |