MCID: INC001
MIFTS: 44

Incontinentia Pigmenti Achromians malady

Categories: Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Incontinentia Pigmenti Achromians

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 65UMLS, 51Orphanet, 36MeSH, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Incontinentia Pigmenti Achromians:

Name: Incontinentia Pigmenti Achromians 10 45 12 65
Hypomelanosis of Ito 10 45 51
Nevus of Ito 10 45 51
Incontinentia Pigmenti Type 1 45 51
Pigmentation Disorders 36 65
Ito Hypomelanosis 45 51
Incontinentia Pigmenti Achromians Syndrome 10
Nevus Fuscocaeruleus Acromiodeltoideus 51
Incontinentia Pigmenti Syndrome 10
 
Pigmentary Mosaicism, Ito Type 51
Skin Pigmentation Disorder 65
Bloch-Siemans Syndrome 10
Ito's Nevus 10
Nevi of Ito 45
Hi Syndrome 51
Ito 45
Ipa 45

Characteristics:

Orphanet epidemiological data:

51
nevus of ito:
Inheritance: Not applicable; Age of onset: All ages
hypomelanosis of ito:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:3156
MeSH36 D010859
NCIt42 C7582
Orphanet51 263432, 435
ICD10 via Orphanet28 D22.6, Q87.8
UMLS via Orphanet66 C0022283
UMLS65 C0022283, C0549567, C1704421

Summaries for Incontinentia Pigmenti Achromians

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NIH Rare Diseases:45 Hypomelanosis of ito, also called incontinentia pigmenti achromians, is a rare birth defect that causes streaked, whirled, or mottled patches of light-colored skin. these skin changes often develop within the first two years of life. other symptoms may include varying degrees of learning disability, seizures, increased body hair, scoliosis, and strabismus.  while the exact cause is not known, hypomelanosis of ito syndrome is strongly linked to its genetics and many patients have chormosomal abnormalities. the disease may be caused by abnormal nerve termination in the involved areas of the skin.girls tend to be affected more commonly than boys. treatment depends on the problems that are presented. last updated: 9/17/2015

MalaCards based summary: Incontinentia Pigmenti Achromians, also known as hypomelanosis of ito, is related to skin pigmentation disorders and x-linked intellectual disability, golabi-ito-hall type, and has symptoms including large fontanelle/delayed fontanelle closure, aniridia/iris hypoplasia and heterochromia/mixed colouring of iris. An important gene associated with Incontinentia Pigmenti Achromians is AKT3 (V-Akt Murine Thymoma Viral Oncogene Homolog 3), and among its related pathways are Glioblastoma Multiforme and TNF signaling pathway. Affiliated tissues include skin, neutrophil and testes, and related mouse phenotypes are embryo and endocrine/exocrine gland.

Wikipedia:68 Incontinentia pigmenti achromians (also known as \"Hypomelanosis of Ito\") is a cutaneous condition... more...

Related Diseases for Incontinentia Pigmenti Achromians

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Diseases related to Incontinentia Pigmenti Achromians via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1skin pigmentation disorders12.5
2x-linked intellectual disability, golabi-ito-hall type12.3
3incontinentia pigmenti12.2
4renpenning syndrome11.5
5pigmentation disease11.5
6hyperinsulinism-hyperammonemia syndrome11.2
7rheumatoid arthritis10.5
8lung cancer10.5
9prostate cancer10.5
10adenomatous polyposis coli10.5
11pancreatic cancer10.5
12alveolar soft-part sarcoma10.5
13arthritis10.5
14b-cell lymphomas10.5
15hereditary hemorrhagic telangiectasia10.5
16renal tubular acidosis10.5
17severe combined immunodeficiency10.5
18cd3delta deficiency10.5
19lymphoma10.5
20dermatomyositis10.5
21protein-losing enteropathy10.5
22sarcoma10.5
23urethritis10.5
24adult dermatomyositis10.5
25prostatitis10.5
26causalgia10.5
27angioma serpiginosum10.5
28pancreatitis10.5
29leiomyomatosis10.5
30kidney disease10.5
31choledochal cyst10.5
32croup10.5
33blepharitis10.5
34glioma10.5
35dyschromatosis symmetrica hereditaria10.3
36reticulate acropigmentation of kitamura10.3
37smith-lemli-opitz syndrome10.3
38leukemia10.3
39hyper-ige recurrent infection syndrome, autosomal recessive10.2
40dowling-degos disease 110.2
41dowling-degos disease 210.2
42breast cancer10.2
43lung disease10.2
44double-orifice mitral valve10.2
45cowden syndrome 610.0AKT3, IGF2
46vitiligo-associated multiple autoimmune disease susceptibility 110.0
47acne9.9
48cataract9.8
49glomerulonephritis9.8
50myopathy9.8

Graphical network of the top 20 diseases related to Incontinentia Pigmenti Achromians:



Diseases related to incontinentia pigmenti achromians

Symptoms for Incontinentia Pigmenti Achromians

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Symptoms:

 51 (show all 45)
  • large fontanelle/delayed fontanelle closure
  • aniridia/iris hypoplasia
  • heterochromia/mixed colouring of iris
  • strabismus/squint
  • irregular/patchy skin hypopigmentation
  • seizures/epilepsy/absences/spasms/status epilepticus
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • hypertelorism
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • corneal clouding/opacity/vascularisation
  • macular pigmentary anomaly/cherry-red spot
  • myopia
  • tooth shape anomaly
  • spina bifida occulta
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • total/partial trisomy/duplication
  • insterstitial/subtelomeric microdeletion/deletion
  • microcephaly
  • dolichocephaly/scaphocephaly
  • brachycephaly/flat occiput
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • coloboma of iris
  • retinoschisis/retinal/chorioretinal coloboma
  • nystagmus
  • flattened nose
  • palate exostoses/torus palatinus
  • anomalies of ear and hearing
  • scoliosis
  • upper limb segmental anomalies
  • complete claw hand/camptodactyly of all fingers
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • fingerlike/triphalangeal thumb
  • lower limb segmental anomalies
  • genu varum
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • hirsutism/hypertrichosis/increased body hair
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • renal disease/nephropathy
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • schizencephaly
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • intrauterine growth retardation

Drugs & Therapeutics for Incontinentia Pigmenti Achromians

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FDA approved drugs:

id Drug Name Active Ingredient(s)15 Company Approval Date
1
Zemaira15 Aventis Behring July 2003
FDA Label: -
Disease/s that Drug Treats:Alpha1-proteinase inhibitor deficiency
Indications and Usage:15 -
DrugBank Targets:13 Neutrophil elastase
Mechanism of Action:15 
Target: neutrophil elastase (NE)
Action: inhibitor
FDA: -

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Incontinentia Pigmenti Achromians


Cochrane evidence based reviews: pigmentation disorders

Genetic Tests for Incontinentia Pigmenti Achromians

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Anatomical Context for Incontinentia Pigmenti Achromians

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MalaCards organs/tissues related to Incontinentia Pigmenti Achromians:

33
Skin, Neutrophil, Testes, Cerebellum, Eye, Liver, Pituitary

Animal Models for Incontinentia Pigmenti Achromians or affiliated genes

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MGI Mouse Phenotypes related to Incontinentia Pigmenti Achromians:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.4AGO2, COL5A1, DLX3, IGF2
2MP:00053798.3AGO2, AKT3, DLX3, IGF2, IKBKG
3MP:00107717.8AGO2, COL5A1, DLX3, IGF2, IKBKG
4MP:00053857.1AGO2, AKT3, COL5A1, DLX3, IGF2, IKBKG
5MP:00107687.0AGO2, AKT3, COL5A1, DLX3, IGF2, IKBKG
6MP:00053786.8AGO2, AKT3, COL5A1, DLX3, IGF2, IKBKG

Publications for Incontinentia Pigmenti Achromians

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Articles related to Incontinentia Pigmenti Achromians:

(show all 36)
idTitleAuthorsYear
1
Correlation between SPARC (Osteonectin) expression with immunophenotypical and invasion characteristics of pituitary adenomas. (25556322)
2015
2
Trabecular Variant of Juvenile Aggressive Ossifying Fibroma. (26266018)
2015
3
Utility of Ki-67, p53, Bcl-2, and Cox-2 biomarkers for low-grade endometrial cancer and disordered proliferative/benign hyperplastic endometrium by imprint cytology. (23729350)
2014
4
Association of 11I^-hydroxysteroid dehydrogenase type 1 gene polymorphisms with serum alanine aminotransferase activity. (23375992)
2013
5
A 52-year-old woman with headache, ataxia and loss of consciousness. (23653915)
2013
6
Effects of switching acute treatment on disability in migraine patients using triptans. (23808937)
2013
7
Giant adrenal myelolipoma with hemorrhage masquerading as retroperitoneal sarcoma. (22923980)
2012
8
Outcomes of metallic stents for malignant ureteral obstruction. (22819410)
2012
9
Survival among children with portal vein thrombosis and end-stage liver disease. (19413719)
2010
10
What associates Charles Bonnet syndrome with age-related macular degeneration? (21305724)
2010
11
Clusterin expression correlates with stage and presence of large cells in mycosis fungoides. (19289586)
2009
12
Attention modification program in individuals with generalized anxiety disorder. (19222311)
2009
13
Association of the dopamine D4 receptor (DRD4) gene and approach-related personality traits: meta-analysis and new data. (17574217)
2008
14
Prevalence and risk factors for aspirin and clopidogrel resistance in cerebrovascular stenting. (17989373)
2008
15
Knockdown of survivin and upregulation of p53 gene expression by small interfering RNA induces apoptosis in human gastric carcinoma cell line SGC-823. (19111044)
2008
16
Current antiviral therapies for chronic hepatitis B. (18452480)
2008
17
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. (18539930)
2008
18
Isolation, characterization, and differentiation to hepatocyte-like cells of nonparenchymal epithelial cells from adult human liver. (17412893)
2007
19
Congenital chylothorax in Opitz G/BBB syndrome. (16619207)
2006
20
Role of ceramide in Ca2+-sensing receptor-induced apoptosis. (15805541)
2005
21
Improved serological differentiation between systemic lupus erythematosus and mixed connective tissue disease by use of an SmD3 peptide-based immunoassay. (15642993)
2005
22
Are polymorphisms of N-acetyltransferase genes susceptible to primary liver cancer in Luoyang, China? (15770721)
2005
23
Mitochondrial inhibition of uracil-DNA glycosylase is not mutagenic. (15574194)
2004
24
Chromosomal integration and homologous gene targeting by replication-incompetent vectors based on the autonomous parvovirus minute virus of mice. (14645570)
2003
25
Pituitary tumor transforming gene and fibroblast growth factor-2 expression: potential prognostic indicators in differentiated thyroid cancer. (12727994)
2003
26
Murine homologs of deltex define a novel gene family involved in vertebrate Notch signaling and neurogenesis. (11226752)
2001
27
New revelations in susceptibility to autoimmune thyroiditis by the use of H2 and HLA class II transgenic models. (11129116)
2000
28
Management of endemic outbreaks of scabies with allethrin, permethrin, and ivermectin. (10944095)
2000
29
Transduction of basolateral-to-apical signals across epithelial cells: ligand-stimulated transcytosis of the polymeric immunoglobulin receptor requires two signals. (10233153)
1999
30
HLA-independent heterogeneity of CD8+ T cell responses to MAGE-3, Melan-A/MART-1, gp100, tyrosinase, MC1R, and TRP-2 in vaccine-treated melanoma patients. (9862732)
1998
31
Urinary retinol excretion and kidney function in children with shigellosis. (9808228)
1998
32
Relative efficacies of amyloid beta peptide (A beta) binding proteins in A beta aggregation. (8892106)
1996
33
Cohort study of incidence of sudden unexplained death in persons with seizure disorder treated with antiepileptic drugs in Saskatchewan, Canada. (8001505)
1995
34
Discharge planning: pediatric case study of Jeune's asphyxiating thoracic dystrophy. (3849399)
1985
35
Determination of Gaucher's disease phenotypes with monoclonal antibody. (6883722)
1983
36
Increased fecal thyroxine losses. With protein-losing enteropathy. (4528601)
1974

Variations for Incontinentia Pigmenti Achromians

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Expression for genes affiliated with Incontinentia Pigmenti Achromians

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Search GEO for disease gene expression data for Incontinentia Pigmenti Achromians.

Pathways for genes affiliated with Incontinentia Pigmenti Achromians

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GO Terms for genes affiliated with Incontinentia Pigmenti Achromians

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Biological processes related to Incontinentia Pigmenti Achromians according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood vessel developmentGO:00015689.0COL5A1, DLX3

Sources for Incontinentia Pigmenti Achromians

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet