Incontinentia Pigmenti malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 52Orphanet, 68UniProtKB/Swiss-Prot, 48Novoseek, 37MeSH, 13DISEASES, 66UMLS, 25GTR, 12diseasecard, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Incontinentia Pigmenti:
Orphanet epidemiological data:52
Inheritance: X-linked dominant; Prevalence: 1-9/1000000 (United States),1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy
Inheritance: x-linked dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Skin diseases
ICD10: 29 28
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis
NINDS:47 Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system. It is one of a group of gene-linked diseases known as neurocutaneous disorders. In most cases, IP is caused by mutations in a gene called NEMO (NF-kappaB essential modulator). Males are more severely affected than females. Discolored skin is caused by excessive deposits of melanin (normal skin pigment). Most newborns with IP will develop discolored skin within the first two weeks. The pigmentation involves the trunk and extremities, is slate-grey, blue or brown, and is distributed in irregular marbled or wavy lines. The discoloration fades with age. Neurological problems include loss of brain tissue (known as cerebral atrophy), the formation of small cavities in the central white matter of the brain, and the loss of neurons in the cerebellar cortex. About 20% of children with IP will have slow motor development, muscle weakness in one or both sides of the body, impaired cognitive development, and seizures. They are also likely to have visual problems, including crossed eyes, cataracts, and severe visual loss. Dental problems are also common, including missing or peg-shaped teeth. A related disorder, incontinentia pigmenti achromians, features skin patterns of light, unpigmented swirls and streaks that are the reverse of IP. Associated neurological problems are similar.
MalaCards based summary: Incontinentia Pigmenti, also known as bloch-sulzberger syndrome, is related to hypomelanosis of ito and congenital disorder of glycosylation, type ip, and has symptoms including skin rash, hypopigmented skin patches and abnormality of the fingernails. An important gene associated with Incontinentia Pigmenti is IKBKG (Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Gamma), and among its related pathways are Cellular Transformation by HTLV1 and Adipocytokine signaling pathway. Affiliated tissues include skin, eye and heart.
NIH Rare Diseases:46 Incontinentia pigmenti (ip) is a genetic condition that affects the skin and other body systems. skin symptoms change with time and begin with a blistering rash in infancy, followed by wart-like skin growths. the growths become swirled grey or brown patches in childhood, and then swirled light patches in adulthood. other signs and symptoms may include hair loss, small or missing teeth, eye abnormalities that can lead to vision loss, and lined or pitted nails. most people with ip have normal intelligence, but some have developmental delay, intellectual disability, seizures, and/or other neurological problems. ip is caused by mutations in the ikbkg gene and is inherited in an x-linked dominant manner. last updated: 7/29/2014
UniProtKB/Swiss-Prot:68 Incontinentia pigmenti: A genodermatosis usually prenatally lethal in males. In affected females, it causes abnormalities of the skin, hair, eyes, nails, teeth, skeleton, heart, and central nervous system. The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation and dermal scarring.
Genetics Home Reference:24 Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males.
OMIM:50 Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is... (308300) more...
Wikipedia:69 Incontinentia pigmenti (IP, also known as \"Bloch–Siemens syndrome,\" \"Bloch–Sulzberger disease,\"... more...
GeneReviews summary for NBK1472
Symptoms by clinical synopsis from OMIM:308300
Clinical features from OMIM:308300
Symptoms:52 (show all 67)
HPO human phenotypes related to Incontinentia Pigmenti:(show all 91)
UMLS symptoms related to Incontinentia Pigmenti:seizures, achromia of skin, muscle spasticity
MalaCards organs/tissues related to Incontinentia Pigmenti:34
Skin, Eye, Heart, Brain, Cortex, Breast, T cells
Articles related to Incontinentia Pigmenti:(show top 50) (show all 198)
UniProtKB/Swiss-Prot genetic disease variations for Incontinentia Pigmenti:68
Clinvar genetic disease variations for Incontinentia Pigmenti:5
Copy number variations for Incontinentia Pigmenti from CNVD:6 (show top 50) (show all 103)
Search GEO for disease gene expression data for Incontinentia Pigmenti.
Pathways related to Incontinentia Pigmenti according to GeneCards Suite gene sharing:(show all 48)
Cellular components related to Incontinentia Pigmenti according to GeneCards Suite gene sharing:
Biological processes related to Incontinentia Pigmenti according to GeneCards Suite gene sharing:(show all 12)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet