Details of Disease

General Information of Disease (ID: DISWSUUL)

• Disease Name: X-linked central congenital hypothyroidism with late-onset testicular enlargement
• Synonyms: hypothyroidism, central, and testicular enlargement; hypothyroidism Central and testicular enlargement; CHTE; Immunoglobulin superfamily member 1 deficiency syndrome; central hypothyroidism and testicular enlargement; X-linked central congenital hypothyroidism with late-onset testicular enlargement; IGSF1 deficiency syndrome; hypothyroidism, central, and testicular enlargement, X-linked recessive; X-linked central congenital hypothyroidism with late-onset macroorchidism
• Definition: An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DIS3PN9X: X-linked disease
  DIS6FWEW: Central congenital hypothyroidism
  DISWSUUL: X-linked central congenital hypothyroidism with late-onset testicular enlargement
• Disease Identifiers:
  MONDO ID: MONDO_0010475
  UMLS CUI: C3550963
  OMIM ID: 300888
  MedGen ID: 763877
  Orphanet ID: 329235

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IGSF1	OT3XD6U2	Definitive	X-linked	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.