Details of Disease

General Information of Disease (ID: DISQ1113)

• Disease Name: Partial androgen insensitivity syndrome
• Synonyms: androgen resistance syndrome, partial; incomplete male pseudohermaphroditism; type I familial incomplete male pseudohermaphroditism; androgen insensitivity syndrome, partial; pseudohermaphroditism, incomplete male, type I; PAIS; androgen insensitivity, partial; partial androgen resistance syndrome; Reifenstein syndrome, partial; Reifenstein syndrome; pais; androgen insensitivity, partial, with or without breast cancer, X-linked recessive; androgen insensitivity, partial, with or without breast cancer; familial incomplete Male pseudohermaphroditism, type 1
• Definition: Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.
• Disease Hierarchy:
  DISUZBBO: Androgen insensitivity syndrome
  DISQ1113: Partial androgen insensitivity syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010720
  MESH ID: D013734
  UMLS CUI: C0268301
  OMIM ID: 312300
  MedGen ID: 82785
  Orphanet ID: 90797
  SNOMED CT ID: 1.23E+14

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AR	TTS64P2	Strong	X-linked	[1]
GART	TTEXB9Z	Strong	Biomarker	[2]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AR	OTUBKAZZ	Strong	X-linked	[1]
MAMLD1	OT9EVMQY	Strong	Biomarker	[3]
PAICS	OTMZN747	Strong	Biomarker	[2]
RNF4	OTCMXQRE	Strong	Genetic Variation	[4]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion.J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):191-194. doi: 10.1515/jpem-2017-0351.
• [3] 'Idiopathic' partial androgen insensitivity syndrome in 28 newborn and infant males: impact of prenatal exposure to environmental endocrine disruptor chemicals?.Eur J Endocrinol. 2011 Oct;165(4):579-87. doi: 10.1530/EJE-11-0580. Epub 2011 Jul 25.
• [4] Coregulator small nuclear RING finger protein (SNURF) enhances Sp1- and steroid receptor-mediated transcription by different mechanisms.J Biol Chem. 2000 Jan 7;275(1):571-9. doi: 10.1074/jbc.275.1.571.