Previous symbols: FTZF1. Aliases: FTZ1, SF-1, ELP, AD4BP, hSF-1, SF1.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| 46,XX testicular disorder of sex development | causative germline |
mechanism: NR5A1 Arg92 regulatory switch
subtype: SRXX4
scoped to subtype: SRXX4
|
| 46,XY complete gonadal dysgenesis | causative germline |
mechanism: NR5A1 gonadal transcription failure
subtype: NR5A1-related complete gonadal dysgenesis
|
| 46,XY partial gonadal dysgenesis | causative germline |
mechanism: NR5A1 sequence alteration; Reduced SF-1 transcriptional activity
subtype: NR5A1-related PGD
|
| NR5A1-related sex development disorder |
untyped
Causative (Primary)
|
mechanism: NR5A1/SF-1 transcription factor haploinsufficiency
subtype: SRXY3
|
| Pituitary Tumor | no genetic record |
mechanism: Clonal Expansion of an Adenohypophyseal Cell Lineage
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| NR5A1-related sex development disorder MONDO:1060211 | AD | Definitive 2026-01-21 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.