Incontinentia pigmenti

Preferred Label : Incontinentia pigmenti;

Symbol : IP;

CISMeF acronym : IP; IP2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : IP2; Incontinentia pigmenti, familial male-lethal type; Incontinentia pigmenti, type II; Bloch-sulzberger syndrome;

Description : Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males (The International Incontinentia Pigmenti Consortium, 2000). In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes, and central nervous system. The prominent skin signs occur in 4 classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation, and dermal scarring. Cells expressing the mutated X chromosome are eliminated selectively around the time of birth, so females with IP exhibit extremely skewed X-inactivation. Familial incontinentia pigmenti is caused by mutations in the NEMO gene and is here referred to as IP2, or 'classical' incontinentia pigmenti. Sporadic incontinentia pigmenti, the so-called IP1, which maps to Xp11, is categorized as hypomelanosis of Ito (300337).;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the inhibitor of nuclear factor kappa B kinase, regulatory subunit gamma gene (IKBKG, 300248.0001);

Prefixed ID : #308300;

Details

Origin ID

308300;

UMLS CUI

C0021171;

Automatic exact mappings (from CISMeF team)
- 5-Iodo-2-pyrimidinone [NCIt concept]
- ATP synthase inhibitory factor subunit 1 [HGNC gene]
- Bloch-Sulzberger syndrome [DO Concept]
- Bloch-Sulzberger syndrome [MedDRA Preferred Term]
- IKBKG wt Allele [NCIt concept]
- Immunoprecipitation [NCIt concept]
- Incontinentia pigmenti [MedDRA LLT]
- Indeno[1,2,3-cd]pyrene [NCIt concept]
- Interphalangeal Joint 2 [NCIt concept]
- Intraperitoneal [NCIt concept]
- Perfusion Index [MeSH Descriptor]
- Pulsatility Index [NCIt concept]
- SDHB wt Allele [NCIt concept]
- Succinate Dehydrogenase [Ubiquinone] Iron-Sulfur Subunit, Mitochondrial [NCIt concept]
- Ulcerative proctitis [ICD-11 Subcategory]
- interpeduncular nucleus [UBERON concept]
- isolation and purification [MeSH Qualifier]
- prostaglandin I2 receptor [HGNC gene]
- protease inhibitors [MeSH Descriptor]
Currated CISMeF NLP mapping
- Incontinentia Pigmenti [NCIt concept]
- Incontinentia pigmenti [ICD-10 Sub-category]
- Incontinentia pigmenti [PASCAL descriptor]
- Incontinentia pigmenti [ICD-11 Sub-sub category]
- Incontinentia pigmenti [ICD-10 Sub-category (who)]
- Incontinentia pigmenti [ORDO Disease]
- Incontinentia pigmenti syndrome (disorder) [SNOMED CT concept]
- incontinentia pigmenti [Disease (Nov.)]
- incontinentia pigmenti [MeSH Descriptor]
- incontinentia pigmenti [MeSH concept]
- incontinentia pigmenti syndrome [SNOMED Notion]
- incontinentia pigmenti, familial male-lethal type [MeSH concept]
- incontinentia pigmenti, familial male-lethal type [MeSH Supplementary Concept]
DO Cross reference
- Bloch-Sulzberger syndrome [DO Concept]
False automatic mappings
- Cisplatin/Irinotecan Regimen [NCIt concept]
- Intraperitoneal Route of Administration [NCIt concept]
Genes related to phenotype
- Inhibitor of nuclear factor kappa-b kinase, regulatory subunit gamma [OMIM gene]
HPO term(s)
- Abnormality of skin pigmentation [HPO term]
- Abnormality of the skin [HPO term]
- Atrophic, patchy alopecia [HPO term]
- Breast aplasia [HPO term]
- Breast hypoplasia [HPO term]
- Cataract [HPO term]
- Coarse hair [HPO term]
- Delayed eruption of teeth [HPO term]
- Eosinophilia [HPO term]
- Erythema [HPO term]
- Fine hair [HPO term]
- Hemivertebrae [HPO term]
- Hyperkeratosis [HPO term]
- Hypodontia [HPO term]
- Hypoplasia of the fovea [HPO term]
- Hypoplastic nipples [HPO term]
- Intellectual disability [HPO term]
- Keratitis [HPO term]
- Kyphoscoliosis [HPO term]
- Leukocytosis [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Nail pits [HPO term]
- Onychogryposis [HPO term]
- Onychogryposis [HPO term]
- Optic atrophy [HPO term]
- Pallor [HPO term]
- Retinal detachment [HPO term]
- Retinal hemorrhage [HPO term]
- Retinal vascular proliferation [HPO term]
- Ridged nail [HPO term]
- Scarring [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Sparse hair [HPO term]
- Sparse, fine hair [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Supernumerary nipple [HPO term]
- Supernumerary ribs [HPO term]
- Thin hair [HPO term]
- Uveitis [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Incontinentia pigmenti [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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