Incontinentia Pigmenti

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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).

Genes related to Incontinentia Pigmenti

IKBKG

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Incontinentia Pigmenti

Intellectual disability
Seizures
Global developmental delay
Short stature
Scoliosis
Strabismus
Muscular hypotonia
Cataract
Spasticity
Cognitive impairment

And another 57 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available INCONTINENTIA PIGMENTI have a estimated birth prevalence of 1.2 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Incontinentia Pigmenti Is also known as bloch-siemens syndrome, bloch-sulzberger syndrome.

Researches and researchers

Doctors, researchs, and experts related to Incontinentia Pigmenti extracted from public data.

Incontinentia Pigmenti Experts map

Current Researchs and researchers

PARIS — Pr Christine BODEMER
Coordinator of expert centre - Clinical expert - Investigator of research project - Manager of registry - Coordinator of expert centre network - Coordinator of research network
- Institution/s:
  — Service de dermatologie, CHU Paris - Hôpital Necker-Enfants Malades
  — CHU Paris - Hôpital Necker-Enfants Malades
- Research area/topic::
  GM: study group on Incontinentia pigmenti and anhidrotic ectodermal dysplasia - part of the Genodermatosis in Mediterranean network

SFAX — Pr Hamida TURKI
Coordinator of research network
- Institution/s:
  — EPS Hédi Chaker
- Research area/topic::
  GM: study group on Incontinentia pigmenti and anhidrotic ectodermal dysplasia - part of the Genodermatosis in Mediterranean network

Incontinentia Pigmenti Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Incontinentia Pigmenti Common Deletion Analysis. By Baylor Miraca Genetics Laboratories (United States). IKBKG Specificity 100 % Genes 100 %
Incontinentia Pigmenti Common Deletion Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories (United States). IKBKG Specificity 100 % Genes 100 %
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID): IKBKG (NEMO) (Full Gene Sequencing). By Molecular Diagnostic Laboratory University of Alberta (Canada). IKBKG Specificity 100 % Genes 100 %
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID): IKBKG (NEMO) (Known Mutation). By Molecular Diagnostic Laboratory University of Alberta (Canada). IKBKG Specificity 100 % Genes 100 %
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SH2D1A, BTK, CD40, CD40LG, UNG, VAV1, AICDA, BLNK, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, ADA, LRRC8A, CR2, ICOS, IGHM , (...) View the complete list with 15 more genes Panel complete gene list SH2D1A, BTK, CD40, CD40LG, UNG, VAV1, AICDA, BLNK, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, ADA, LRRC8A, CR2, ICOS, IGHM, IGLL1, XIAP, IKBKG, MRE11, MS4A1, NBN, NFKB2, NFKBIA, ATM, PIK3CD, PIK3R1, PLCG2, PRKCD, PTPRC, RAG2 Specificity 3 % Genes 100 %
IKBKG (NEMO) Gene Sequencing (HED). By GeneDx (United States). IKBKG Specificity 100 % Genes 100 %
IKBKG (NEMO) Gene Sequencing (IP). By GeneDx (United States). IKBKG Specificity 100 % Genes 100 %
IKBKG. Chromosome X inactivation analysis. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). IKBKG Specificity 100 % Genes 100 %