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
Displaying all 6 entries
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
427 ASAH1 N-acylsphingosine amidohydrolase 1
1946 EFNA5 ephrin A5
2026 ENO2 enolase 2
2539 G6PD glucose-6-phosphate dehydrogenase
145173 B3GLCT beta 3-glucosyltransferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024