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IGSF1 deficiency syndrome
Summary
- Synonym
-
- CHTE
- X-linked central congenital hypothyroidism with late-onset macroorchidism
- X-linked central congenital hypothyroidism with late-onset testicular enlargement
- central hypothyroidism and testicular enlargement
- Definition
- A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26.
- Super Class
- X-linked recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111140
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09104 | Gamma-enolase | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P22303 | Acetylcholinesterase | |
| P52803 | Ephrin-A5 | |
| Q13510 | Acid ceramidase | |
| Q6Y288 | Beta-1,3-glucosyltransferase |
