Details of Disease

General Information of Disease (ID: DIS0XPER)

• Disease Name: Hypotrichosis 1
• Synonyms: hypotrichosis simplex, generalized, hereditary; HHS; HYPT1; APCDD1 hypotrichosis; hereditary generalised hypotrichosis simplex; hereditary generalized hypotrichosis simplex; HTS; hypotrichosis 1; hypotrichosis type 1; hypotrichosis caused by mutation in APCDD1
• Definition: Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene.
• Disease Hierarchy:
  DISSW933: Hypotrichosis
  DIS8WHDJ: Hypotrichosis simplex
  DIS0XPER: Hypotrichosis 1
• Disease Identifiers:
  MONDO ID: MONDO_0011549
  UMLS CUI: C4551976
  OMIM ID: 605389
  MedGen ID: 1644234

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MTG1	OTC9U1LI	Limited	Genetic Variation	[1]
APCDD1	OTV9AD0L	Strong	Autosomal dominant	[2]
GALNT3	OT7M67WT	Strong	Genetic Variation	[3]
GLUD1	OTXKOCUH	Strong	Genetic Variation	[4]

References

• [1] Glutamate dehydrogenase: Structure of a hyperinsulinism mutant, corrections to the atomic model, and insights into a regulatory site.Proteins. 2019 Jan;87(1):41-50. doi: 10.1002/prot.25620. Epub 2018 Nov 18.
• [2] APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature. 2010 Apr 15;464(7291):1043-7. doi: 10.1038/nature08875.
• [3] Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.J Clin Endocrinol Metab. 2007 May;92(5):1943-7. doi: 10.1210/jc.2006-1825. Epub 2007 Feb 20.
• [4] Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.Clin Chim Acta. 2004 Mar;341(1-2):23-6. doi: 10.1016/j.cccn.2003.10.023.