IPA
MCID: INC001
MIFTS: 46

Incontinentia Pigmenti Achromians (IPA) malady

Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Incontinentia Pigmenti Achromians

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Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 hypertrichosis and cerebritis, and has symptoms including lower limb segmental anomalies, fingerlike/triphalangeal thumb 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, testes and cerebellum, and related mouse phenotype integument.

Wikipedia:63 Incontinentia pigmenti achromians (also known as \"Hypomelanosis of Ito\") is a cutaneous condition... more...

Description from OMIM:46 300337

Aliases & Classifications for Incontinentia Pigmenti Achromians

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 60UMLS, 48Orphanet, 46OMIM, 39NCIt, 56SNOMED-CT, 34MeSH, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 42 60
hypomelanosis of ito 8 42 48
ito hypomelanosis 42 48 46
nevus of ito 8 42 48
incontinentia pigmenti type 1 42 48
incontinentia pigmenti achromians syndrome 8
incontinentia pigmenti syndrome 8
pigmentary mosaicism, ito type 48
hypopigmentation disorder 60
benign melanocytic nevus 60
bloch-siemans syndrome 8
hi syndrome 48
ito's nevus 8
ipa 42
ito 42


External Ids:

Disease Ontology8 DOID:3156
NCIt39 C7582
MeSH34 D010859
SNOMED-CT via Orphanet57 218358001, 48543002
ICD10 via Orphanet26 D22.6, Q87.8
OMIM46 300337

Related Diseases for Incontinentia Pigmenti Achromians

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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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

300337

Clinical synopsis from OMIM:

300337

Symptoms:

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

Drugs & Therapeutics for Incontinentia Pigmenti Achromians

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Incontinentia Pigmenti Achromians

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Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Incontinentia Pigmenti Achromians

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Anatomical Context for Incontinentia Pigmenti Achromians

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32MalaCards
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MalaCards organs/tissues related to Incontinentia Pigmenti Achromians:

32
Skin, Testes, Cerebellum, Eye, Small intestine

Animal Models for Incontinentia Pigmenti Achromians or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Incontinentia Pigmenti Achromians:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5FXR2, IKBKG, COL5A1

Publications for Incontinentia Pigmenti Achromians

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50PubMed
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Articles related to Incontinentia Pigmenti Achromians:

(show all 36)
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
Systematized hypochromic nevus. Incontinentia pigmenti achromians of Ito. (4639251)
1972
35
Incontinentia pigmenti achromians. Multiple cases within a family. (5012145)
1972
36
"Incontinentia pigmenti achromians (Ito)". (6075785)
1967

Genetic Variations for Incontinentia Pigmenti Achromians

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Expression for genes affiliated with Incontinentia Pigmenti Achromians

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

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Pathways for genes affiliated with Incontinentia Pigmenti Achromians

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29KEGG
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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

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GO Terms for genes affiliated with Incontinentia Pigmenti Achromians

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Products for genes affiliated with Incontinentia Pigmenti Achromians

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Incontinentia Pigmenti Achromians

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet