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hypogonadotropic hypogonadism 23 with or without anosmia
Summary
- Synonym
-
- 46,XY DSD due to LHB deficiency
- 46,XY DSD due to luteinizing hormone subunit beta deficiency
- 46,XY disorder of sex development due to LHB deficiency
- 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
- Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
- Pasqualini syndrome
- fertile eunuch syndrome
- leydig cell hypoplasia due to LHB deficiency
- Definition
- A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.
- Super Class
- autosomal recessive disease hypogonadotropic hypogonadism
External Links
- Disease Ontology
- DOID:0090091
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1109 | AKR1C4 | aldo-keto reductase family 1 member C4 | |
| 1583 | CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | |
| 1586 | CYP17A1 | cytochrome P450 family 17 subfamily A member 1 | |
| 1646 | AKR1C2 | aldo-keto reductase family 1 member C2 | |
| 3284 | HSD3B2 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | |
| 3293 | HSD17B3 | hydroxysteroid 17-beta dehydrogenase 3 | |
| 6716 | SRD5A2 | steroid 5 alpha-reductase 2 | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 | |
| 51478 | HSD17B7 | hydroxysteroid 17-beta dehydrogenase 7 | |
| 79154 | DHRS11 | dehydrogenase/reductase 11 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05093 | Steroid 17-alpha-hydroxylase/17,20 lyase | |
| P26439 | 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 | |
| P56937 | 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 | |
| Q7LGC8 | Carbohydrate sulfotransferase 3 |
