IPA
MCID: INC001
MIFTS: 43

Incontinentia Pigmenti Achromians (IPA) malady

Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Cancer diseases categories
Download this MalaCard

Summaries for Incontinentia Pigmenti Achromians

About this section
Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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 hypertrichosis, and has symptoms including total/partial trisomy/duplication, upslanted palpebral fissures/mongoloid slanting palpebral fissures and coloboma of iris. The drug dihydroxyacetone has been mentioned in the context of this disorder. Affiliated tissues include skin, testes and cerebellum.

Wikipedia:65 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

About this section
Sources:
8Disease Ontology, 43NIH Rare Diseases, 62UMLS, 49Orphanet, 47OMIM, 35MeSH, 40NCIt, 58SNOMED-CT, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:



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 62
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 62
benign melanocytic nevus 62
bloch-siemans syndrome 8
nevi of ito 43
hi syndrome 49
ito's nevus 8
ito 43
ipa 43


External Ids:

Disease Ontology8 DOID:3156
MeSH35 D010859
NCIt40 C7582
SNOMED-CT via Orphanet59 218358001, 48543002
ICD10 via Orphanet26 D22.6, Q87.8
UMLS via Orphanet63 C0022283
OMIM47 300337

Related Diseases for Incontinentia Pigmenti Achromians

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to incontinentia pigmenti achromians

Symptoms for Incontinentia Pigmenti Achromians

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

300337

Clinical features from OMIM:

300337

Symptoms:

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

Drugs & Therapeutics for Incontinentia Pigmenti Achromians

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Incontinentia Pigmenti Achromians

Search NIH Clinical Center for Incontinentia Pigmenti Achromians

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Incontinentia Pigmenti Achromians

About this section

Anatomical Context for Incontinentia Pigmenti Achromians

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Incontinentia Pigmenti Achromians:

33
Skin, Testes, Cerebellum, Eye, Small intestine

Animal Models for Incontinentia Pigmenti Achromians or affiliated genes

About this section

Publications for Incontinentia Pigmenti Achromians

About this section
Sources:
52PubMed
See all sources

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

Variations for Incontinentia Pigmenti Achromians

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Incontinentia Pigmenti Achromians:

1
id Gene Name Type Significance SNP ID Assembly Location
1IKBKGNM_003639.4(IKBKG): c.1219A> G (p.Met407Val)single nucleotide variantPathogenicrs137853322GRCh37Chr X, 153792635: 153792635
2IKBKGNM_003639.4(IKBKG): c.184C> T (p.Arg62Ter)single nucleotide variantPathogenicrs137853323GRCh37Chr X, 153780401: 153780401

Expression for genes affiliated with Incontinentia Pigmenti Achromians

About this section
Sources:
15Gene Expression Omnibus DataSets
See all sources

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

Pathways for genes affiliated with Incontinentia Pigmenti Achromians

About this section

Compounds for genes affiliated with Incontinentia Pigmenti Achromians

About this section

GO Terms for genes affiliated with Incontinentia Pigmenti Achromians

About this section

Products for genes affiliated with Incontinentia Pigmenti Achromians

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Incontinentia Pigmenti Achromians

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet