IPA
MCID: INC001
MIFTS: 39

Incontinentia Pigmenti Achromians (IPA) malady

Neuronal, Eye, Skin, Fetal, Cancer categories

Summaries for Incontinentia Pigmenti Achromians

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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. the underlying cause of the condition is currently unknown. girls tend to be affected more commonly than boys. last updated: 2/24/2012

MalaCards: Incontinentia Pigmenti Achromians, also known as hypomelanosis of ito, is related to hemimegalencephaly and n syndrome, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, hypertelorism and clinodactyly of fingers 1,2,3,4/overlapping fingers. An important gene associated with Incontinentia Pigmenti Achromians is IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma), and among its related pathways is PI3K-Akt signaling pathway. The drug dihydroxyacetone has been mentioned in the context of this disorder. Affiliated tissues include skin and small intestine, and related mouse phenotype integument.

Wikipedia:64 Incontinentia pigmenti achromians (also known as \"Hypomelanosis of Ito\") is a cutaneous condition... more...

Description from OMIM:47 300337

Aliases & Classifications for Incontinentia Pigmenti Achromians

Sources:
8Disease Ontology, 43NIH Rare Diseases, 61UMLS, 49Orphanet, 47OMIM, 40NCIt, 57SNOMED-CT, 35MeSH, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Neuronal, Eye, Skin


Characteristics (Orphanet epidemiological data):

49
nevus of ito:
Inheritance: Sporadic; Age of onset: Variable
hypomelanosis of ito:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic,X-linked recessive; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

incontinentia pigmenti achromians 8 43 61
hypomelanosis of ito 8 43 49
ito hypomelanosis 43 49 47
nevus of ito 8 43 49
incontinentia pigmenti type 1 43 49
incontinentia pigmenti achromians syndrome 8
incontinentia pigmenti syndrome 8
pigmentary mosaicism, ito type 49
hypopigmentation disorder 61
benign melanocytic nevus 61
bloch-siemans syndrome 8
hi syndrome 49
ito's nevus 8
ipa 43
ito 43


External Ids:

Disease Ontology8 DOID:3156
NCIt40 C7582
MeSH35 D010859
ICD10 via Orphanet26 D22.6, Q87.8
OMIM47 300337

Related Diseases for Incontinentia Pigmenti Achromians

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Incontinentia Pigmenti Achromians:



Diseases related to incontinentia pigmenti achromians

Clinical Features for Incontinentia Pigmenti Achromians

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

300337

Clinical synopsis from OMIM:

300337

Symptoms:

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

Drugs & Therapeutics for Incontinentia Pigmenti Achromians

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Incontinentia Pigmenti Achromians

Search NIH Clinical Center for Incontinentia Pigmenti Achromians

Search CenterWatch for Incontinentia Pigmenti Achromians

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Incontinentia Pigmenti Achromians

Anatomical Context for Incontinentia Pigmenti Achromians

Sources:
33MalaCards
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MalaCards organs/tissues related to Incontinentia Pigmenti Achromians:

33
Skin, Small intestine

Animal Models for Incontinentia Pigmenti Achromians or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Incontinentia Pigmenti Achromians:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5FXR2, IKBKG, COL5A1

Publications for Incontinentia Pigmenti Achromians

Sources:
51PubMed
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Articles related to Incontinentia Pigmenti Achromians:

(show all 37)
idTitleAuthorsYear
1
Incontinentia pigmenti achromians of Ito: an ultrastructural study. (16579015)
2006
2
Hemihypertrophy and primary small intestinal lymphangiectasia in incontinentia pigmenti achromians. (15531848)
2004
3
Clinico-neuropathological study of incontinentia pigmenti achromians--an autopsy case. (8747421)
1995
4
Incontinentia pigmenti achromians-like depigmentation in the mother of a baby with typical incontinentia pigmenti. (8024287)
1994
5
Hypomelanosis of Ito (incontinentia pigmenti achromians). (7511121)
1994
6
Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): further evidence of localization at Xp11. (8322815)
1993
7
Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians). (1623628)
1992
8
Incontinentia pigmenti achromians (Ito) in a West African. (1644036)
1992
9
Labial talon cusp in a child with incontinentia pigmenti achromians: case report. (1886829)
1991
10
The ocular changes of incontinentia pigmenti achromians (hypomelanosis of Ito). (1890574)
1991
11
Hypomelanosis of Ito (incontinentia pigmenti achromians). Ophthalmological evidence for somatic mosaicism. (2096355)
1990
12
Ocular symptomatology in familial hypomelanosis Ito. Incontinentia pigmenti achromians. (2320353)
1990
13
Hypomelanosis of Ito (incontinentia pigmenti achromians). (3248857)
1988
14
Ito's hypomelanosis (incontinentia pigmenti achromians). A review of four cases. (3709001)
1986
15
Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. (3464561)
1986
16
Insulin dependent diabetes and goitre in a case of hypomelanosis of Ito (Incontinentia Pigmenti Achromians). (4037692)
1985
17
Congenital cranio-facial dysmorphosis associated with Ito's syndrome (incontinentia pigmenti achromians): a case report. (6498382)
1984
18
Incontinentia pigmenti achromians (Ito). (6847218)
1983
19
Hypomelanosis of Ito (incontinentia pigmenti achromians)--a clinicopathologic study: macrocephaly and gray matter heterotopias. (7202148)
1982
20
Incontinentia pigmenti achromians and morphoea: a case report. (7296961)
1981
21
Ultrastructure of incontinentia pigmenti achromians, with special reference to melanocytes and nerve endings. (7035514)
1981
22
Incontinentia pigmenti achromians. (6113199)
1981
23
Incontinentia pigmenti achromians (Ito). (15462075)
1980
24
Focal cerebral atrophy in incontinentia pigmenti achromians. (7395837)
1980
25
A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians). (290427)
1979
26
Incontinentia pigmenti achromians as part of a neurocutaneous syndrome: a case report. (553451)
1979
27
Incontinentia pigmenti achromians (Ito's hypomelanosis). (856747)
1977
28
Ultrastructural studies of vitiligo, Vogt-Koyanagi syndrome, and incontinentia pigmenti achromians. (869545)
1977
29
Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome. (830915)
1977
30
Incontinentia pigmenti achromians (hypomelanosis of Ito). (884049)
1977
31
Dental dysplasia in incontinentia pigmenti achromians (Ito). An unusual form. (1062218)
1976
32
Incontinentia pigmenti achromians (Ito). (50700)
1975
33
Incontinentia pigmenti achromians. (1137418)
1975
34
Hypomelanosis of Ito ("incontinentia pigmenti achromians"). Report of three cases and review of the literature. (4633268)
1973
35
Systematized hypochromic nevus. Incontinentia pigmenti achromians of Ito. (4639251)
1972
36
Incontinentia pigmenti achromians. Multiple cases within a family. (5012145)
1972
37
"Incontinentia pigmenti achromians (Ito)". (6075785)
1967

Genetic Variations for Incontinentia Pigmenti Achromians

Expression for genes affiliated with Incontinentia Pigmenti Achromians

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Incontinentia Pigmenti Achromians

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

Pathways for genes affiliated with Incontinentia Pigmenti Achromians

Sources:
30KEGG
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Pathways related to Incontinentia Pigmenti Achromians according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0IKBKG, COL5A1

Compounds for genes affiliated with Incontinentia Pigmenti Achromians

GO Terms for genes affiliated with Incontinentia Pigmenti Achromians

Products for genes affiliated with Incontinentia Pigmenti Achromians

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  • Lysates
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Sources for Incontinentia Pigmenti Achromians

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet