Details of Disease

General Information of Disease (ID: DISST0XM)

• Disease Name: X-linked hypohidrotic ectodermal dysplasia
• Synonyms: hypohidrotic ectodermal dysplasia X-linked; Eda1; CST syndrome; ectodermal dysplasia 1, hypohidrotic, X-linked; ectodermal dysplasia, anhidrotic, X-linked; Xlhed; ectodermal dysplasia, hypohidrotic, 1; ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked; ectodermal dysplasia 1; anhidrotic ectodermal dysplasia X-linked; X-linked hypohidrotic ectodermal dysplasia; X-linked anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome; hypohidrotic ectodermal dysplasia, X-linked; XHED; ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive
• Definition: An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.
• Disease Hierarchy:
  DISAQJPI: Hypohidrotic ectodermal dysplasia
  DIS3PN9X: X-linked disease
  DISST0XM: X-linked hypohidrotic ectodermal dysplasia
• Disease Identifiers:
  MONDO ID: MONDO_0010585
  MESH ID: D053358
  UMLS CUI: C0162359
  OMIM ID: 305100
  MedGen ID: 57890
  Orphanet ID: 181
  SNOMED CT ID: 239007005

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
NFKBIA	TTSHAEB	Limited	Genetic Variation	[1]
GJB6	TTAU8SJ	Strong	Genetic Variation	[2]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EDA2R	OTJLAIIH	Supportive	X-linked	[3]
EDARADD	OT0G52MC	Strong	Genetic Variation	[4]
HAND2	OTCXYW4Y	Strong	Genetic Variation	[2]
IKBKG	OTNWJWSD	Strong	Genetic Variation	[5]
KDF1	OTNMH6OS	Strong	Genetic Variation	[6]
LEF1	OTWS5I5H	Strong	Altered Expression	[7]
PKP1	OT9HSQ8F	Strong	Biomarker	[8]
TAB2	OTPZK76F	Strong	Biomarker	[9]
EDA	OTAKS5WS	Definitive	X-linked	[10]

References

• [1] A novel NFKBIA variant substituting serine 36 of IB causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia.Clin Immunol. 2020 Jan;210:108269. doi: 10.1016/j.clim.2019.108269. Epub 2019 Nov 1.
• [2] BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency.Acta Neuropathol Commun. 2016 Jul 13;4(1):73. doi: 10.1186/s40478-016-0342-3.
• [3] A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia. J Med Genet. 2012 Aug;49(8):499-501. doi: 10.1136/jmedgenet-2012-100877.
• [4] A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.Am J Med Genet A. 2016 Jan;170A(1):249-53. doi: 10.1002/ajmg.a.37412. Epub 2015 Oct 5.
• [5] ORAI1 mutations abolishing store-operated Ca(2+) entry cause anhidrotic ectodermal dysplasia with immunodeficiency.J Allergy Clin Immunol. 2018 Oct;142(4):1297-1310.e11. doi: 10.1016/j.jaci.2017.10.031. Epub 2017 Nov 16.
• [6] KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. Hum Genet. 2017 Jan;136(1):99-105. doi: 10.1007/s00439-016-1741-z. Epub 2016 Nov 12.
• [7] The ectodermal dysplasia receptor represses the Lef-1/beta-catenin-dependent transcription independent of NF-kappaB activation.Biochem Biophys Res Commun. 2004 Feb 27;315(1):73-8. doi: 10.1016/j.bbrc.2004.01.025.
• [8] Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1.Br J Dermatol. 1999 Feb;140(2):297-307. doi: 10.1046/j.1365-2133.1999.02667.x.
• [9] TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator Edaradd.Hum Mol Genet. 2005 Dec 1;14(23):3751-7. doi: 10.1093/hmg/ddi405. Epub 2005 Oct 26.
• [10] Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. J Med Genet. 1998 Feb;35(2):112-5. doi: 10.1136/jmg.35.2.112.