Details of Disease

General Information of Disease (ID: DISQ2RNS)

• Disease Name: H syndrome
• Synonyms: sinus histiocytosis and massive lymphadenopathy; HJCD; Rosai-Dorfman disease, familial; pigmented hypertrichosis with insulin-dependent diabetes mellitus; hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss; Faisalabad histiocytosis; histiocytosis with Joint contractures and sensorineural deafness; SLC29A3 spectrum disorder; histiocytosis-lymphadenopathy plus syndrome; histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness; H syndrome; Asrar Facharzt Haque syndrome
• Definition: A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).
• Disease Hierarchy:
  DISP5W46: Sinus histiocytosis with massive lymphadenopathy
  DISQ205R: Hyperpigmentation of the skin
  DISDKUQO: Laryngeal disorder
  DISSCALK: Hereditary skin disorder
  DISQ2RNS: H syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0011273
  MESH ID: C538322
  UMLS CUI: C1864445
  OMIM ID: 602782
  MedGen ID: 400532
  Orphanet ID: 168569
  SNOMED CT ID: 711159002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC29A3	DTZAWTH	Limited	Genetic Variation	[1]
SLC29A3	DTZAWTH	Strong	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
S100A1	OT1F2G4J	Strong	Biomarker	[3]
SLC29A3	OTGLX8XU	Strong	Autosomal recessive	[2]

References

• [1] A novel 3' untranslated region mutation in the SLC29A3 gene associated with pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus syndrome.Pediatr Diabetes. 2019 Jun;20(4):474-481. doi: 10.1111/pedi.12839. Epub 2019 Apr 2.
• [2] 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.
• [3] Rosai-Dorfman disease: two case reports and diagnostic role of fine-needle aspiration cytology.J Pediatr Hematol Oncol. 2006 Feb;28(2):103-6. doi: 10.1097/01.mph.0000200686.33291.d1.