MCID: INC001
MIFTS: 43

Incontinentia Pigmenti Achromians malady

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

Aliases & Classifications for Incontinentia Pigmenti Achromians

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet
See all 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
Ito Hypomelanosis 45 51
Incontinentia Pigmenti Achromians Syndrome 10
Nevus Fuscocaeruleus Acromiodeltoideus 51
Incontinentia Pigmenti Syndrome 10
 
Pigmentary Mosaicism, Ito Type 51
Bloch-Siemans Syndrome 10
Pigmentation Disorders 36
Ito's Nevus 10
Nevi of Ito 45
Hi Syndrome 51
Ipa 45
Ito 45


Classifications:



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


External Ids:

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

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 incontinentia pigmenti and hemimegalencephaly, 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 IKBKG (Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Gamma), and among its related pathways are TNF signaling pathway and MAPK Pathway. Affiliated tissues include skin, testes and cerebellum, and related mouse phenotypes are embryogenesis and integument.

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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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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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, Testes, Cerebellum, Eye, Small intestine

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:00053808.1COL5A1, DLX3, IGF2, PAFAH1B1
2MP:00107717.9COL5A1, DLX3, IGF2, IKBKG
3MP:00053797.6AKT3, DLX3, IGF2, IKBKG, PAFAH1B1
4MP:00053787.5AKT3, DLX3, IGF2, IKBKG, PAFAH1B1
5MP:00107687.1AKT3, COL5A1, DLX3, IGF2, IKBKG, PAFAH1B1

Publications for Incontinentia Pigmenti Achromians

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Articles related to Incontinentia Pigmenti Achromians:

(show all 35)
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
Hypomelanosis of Ito (incontinentia pigmenti achromians). (3248857)
1988
13
Ito's hypomelanosis (incontinentia pigmenti achromians). A review of four cases. (3709001)
1986
14
Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. (3464561)
1986
15
Insulin dependent diabetes and goitre in a case of hypomelanosis of Ito (Incontinentia Pigmenti Achromians). (4037692)
1985
16
Congenital cranio-facial dysmorphosis associated with Ito's syndrome (incontinentia pigmenti achromians): a case report. (6498382)
1984
17
Incontinentia pigmenti achromians (Ito). (6847218)
1983
18
Hypomelanosis of Ito (incontinentia pigmenti achromians)--a clinicopathologic study: macrocephaly and gray matter heterotopias. (7202148)
1982
19
Incontinentia pigmenti achromians and morphoea: a case report. (7296961)
1981
20
Ultrastructure of incontinentia pigmenti achromians, with special reference to melanocytes and nerve endings. (7035514)
1981
21
Incontinentia pigmenti achromians. (6113199)
1981
22
Incontinentia pigmenti achromians (Ito). (15462075)
1980
23
Focal cerebral atrophy in incontinentia pigmenti achromians. (7395837)
1980
24
A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians). (290427)
1979
25
Incontinentia pigmenti achromians as part of a neurocutaneous syndrome: a case report. (553451)
1979
26
Incontinentia pigmenti achromians (Ito's hypomelanosis). (856747)
1977
27
Ultrastructural studies of vitiligo, Vogt-Koyanagi syndrome, and incontinentia pigmenti achromians. (869545)
1977
28
Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome. (830915)
1977
29
Incontinentia pigmenti achromians (hypomelanosis of Ito). (884049)
1977
30
Dental dysplasia in incontinentia pigmenti achromians (Ito). An unusual form. (1062218)
1976
31
Incontinentia pigmenti achromians (Ito). (50700)
1975
32
Incontinentia pigmenti achromians. (1137418)
1975
33
Systematized hypochromic nevus. Incontinentia pigmenti achromians of Ito. (4639251)
1972
34
Incontinentia pigmenti achromians. Multiple cases within a family. (5012145)
1972
35
"Incontinentia pigmenti achromians (Ito)". (6075785)
1967

Variations for Incontinentia Pigmenti Achromians

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Clinvar genetic disease variations for Incontinentia Pigmenti Achromians:

5
id Gene Variation Type Significance SNP ID Assembly Location
1IKBKGIKBKG, EXON 4-10 DELdeletionPathogenic
2IKBKGIKBKG, 1-BP INS, 1110CinsertionPathogenic
3IKBKGNM_003639.4(IKBKG): c.1219A> G (p.Met407Val)single nucleotide variantPathogenicrs137853322GRCh37Chr X, 153792635: 153792635
4IKBKGNM_003639.4(IKBKG): c.1259A> G (p.Ter420Trp)single nucleotide variantPathogenicrs137853321GRCh37Chr X, 153792675: 153792675
5IKBKGIKBKG, 10-BP INS, NT127insertionPathogenic
6IKBKGNM_003639.4(IKBKG): c.184C> T (p.Arg62Ter)single nucleotide variantPathogenicrs137853323GRCh37Chr X, 153780401: 153780401

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:00015689.1COL5A1, DLX3

Sources for Incontinentia Pigmenti Achromians

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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