Details of Disease

General Information of Disease (ID: DIS0ALLE)

Disease Name Incontinentia pigmenti
Synonyms
IP; Incontinentia pigmenti, familial Male-lethal type; Incontinentia pigmenti type 2 (formerly); IP2 (formerly); Incontinentia pigmenti, type II; Incontinentia pigmenti, type II, formerly; incontinentia pigmenti; Bloch-Siemens syndrome; Bloch-Sulzberger syndrome; incontinentia pigmenti, X-linked dominant; Incontinentia pigmenti syndrome
Definition
Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).
Disease Hierarchy
DISLRS4M: Ectodermal dysplasia
DIST86NS: Congenital vitreoretinal dysplasia
DIS0ALLE: Incontinentia pigmenti
Disease Identifiers
MONDO ID
MONDO_0010631
MESH ID
D007184
UMLS CUI
C0021171
OMIM ID
308300
MedGen ID
7049
Orphanet ID
464
SNOMED CT ID
367520004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GJB6 TTAU8SJ Strong Biomarker [1]
PROKR2 TTM67AX Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EDA OTAKS5WS Strong Biomarker [1]
EDARADD OT0G52MC Strong Genetic Variation [3]
HAND2 OTCXYW4Y Strong Biomarker [1]
NSDHL OTK3EJFD Strong Biomarker [4]
SHARPIN OTU1J2KH Strong Biomarker [5]
SPIN2A OT93VTU4 Strong Genetic Variation [6]
IKBKG OTNWJWSD Definitive X-linked [7]
------------------------------------------------------------------------------------
⏷ Show the Full List of 7 DOT(s)

References

1 Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections.Pediatr Dermatol. 2014 Nov-Dec;31(6):716-21. doi: 10.1111/pde.12103. Epub 2013 Feb 14.
2 Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways.J Clin Endocrinol Metab. 2014 Mar;99(3):E458-63. doi: 10.1210/jc.2013-2431. Epub 2013 Nov 25.
3 From ectodermal dysplasia to selective tooth agenesis.Am J Med Genet A. 2009 Sep;149A(9):2037-41. doi: 10.1002/ajmg.a.32801.
4 The Str mouse as a model for incontinentia pigmenti.Pflugers Arch. 2000;440(5 Suppl):R53-4.
5 Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-B activation and leads to incontinentia pigmenti.J Allergy Clin Immunol. 2017 Dec;140(6):1671-1682.e2. doi: 10.1016/j.jaci.2016.11.056. Epub 2017 Feb 27.
6 A 2-Mb YAC contig encompassing three loci (DXF34, DXS14, and DXS390) that lie between Xp11.2 translocation breakpoints associated with incontinentia pigmenti type 1.Genomics. 1994 Apr;20(3):341-6. doi: 10.1006/geno.1994.1186.
7 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.