MCID: INC001
MIFTS: 36

Incontinentia Pigmenti Achromians malady

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

Summaries for Incontinentia Pigmenti Achromians

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NIH Rare Diseases:41 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 based summary: Incontinentia Pigmenti Achromians, also known as hypomelanosis of ito, is related to hemimegalencephaly and incontinentia pigmenti, type ii, and has symptoms including abnormality of the fontanelles or cranial sutures, strabismus and hypopigmented skin patches. An important gene associated with Incontinentia Pigmenti Achromians is IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma). Affiliated tissues include skin, cerebellum and testes.

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

Aliases & Classifications for Incontinentia Pigmenti Achromians

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 38NCIt, 33MeSH, 55SNOMED-CT, 61UMLS via Orphanet, 26ICD10 via Orphanet
See all sources

Incontinentia Pigmenti Achromians, Aliases & Descriptions:

Name: Incontinentia Pigmenti Achromians 9 41 60
Hypomelanosis of Ito 9 41 47
Nevus of Ito 9 41 47
Pigmentary Mosaicism, Ito Type 41 47
Incontinentia Pigmenti Type 1 41 47
Ito Hypomelanosis 41 47
Hi Syndrome 41 47
 
Incontinentia Pigmenti Achromians Syndrome 9
Incontinentia Pigmenti Syndrome 9
Bloch-Siemans Syndrome 9
Nevi of Ito 41
Ito's Nevus 9
Ipa 41
Ito 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
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 Ontology9 DOID:3156
NCIt38 C7582
MeSH33 D010859
Orphanet47 263432, 435
UMLS via Orphanet61 C0022283
ICD10 via Orphanet26 D22.6, Q87.8

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:

 47 (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

HPO human phenotypes related to Incontinentia Pigmenti Achromians:

(show all 39)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 strabismus hallmark (90%) HP:0000486
3 hypopigmented skin patches hallmark (90%) HP:0001053
4 heterochromia iridis hallmark (90%) HP:0001100
5 seizures hallmark (90%) HP:0001250
6 aplasia/hypoplasia of the iris hallmark (90%) HP:0008053
7 macrocephaly typical (50%) HP:0000256
8 hypertelorism typical (50%) HP:0000316
9 myopia typical (50%) HP:0000545
10 upslanted palpebral fissure typical (50%) HP:0000582
11 abnormality of the macula typical (50%) HP:0001103
12 muscular hypotonia typical (50%) HP:0001252
13 abnormality of chromosome segregation typical (50%) HP:0002916
14 spina bifida occulta typical (50%) HP:0003298
15 abnormality of dental morphology typical (50%) HP:0006482
16 opacification of the corneal stroma typical (50%) HP:0007759
17 cognitive impairment typical (50%) HP:0100543
18 cryptorchidism occasional (7.5%) HP:0000028
19 nephropathy occasional (7.5%) HP:0000112
20 microcephaly occasional (7.5%) HP:0000252
21 dolichocephaly occasional (7.5%) HP:0000268
22 hearing abnormality occasional (7.5%) HP:0000364
23 depressed nasal ridge occasional (7.5%) HP:0000457
24 chorioretinal coloboma occasional (7.5%) HP:0000567
25 iris coloboma occasional (7.5%) HP:0000612
26 nystagmus occasional (7.5%) HP:0000639
27 hypertrichosis occasional (7.5%) HP:0000998
28 triphalangeal thumb occasional (7.5%) HP:0001199
29 intrauterine growth retardation occasional (7.5%) HP:0001511
30 abnormality of neuronal migration occasional (7.5%) HP:0002269
31 scoliosis occasional (7.5%) HP:0002650
32 genu varum occasional (7.5%) HP:0002970
33 deviation of finger occasional (7.5%) HP:0004097
34 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
35 schizencephaly occasional (7.5%) HP:0010636
36 arteriovenous malformation occasional (7.5%) HP:0100026
37 camptodactyly of finger occasional (7.5%) HP:0100490
38 asymmetric growth occasional (7.5%) HP:0100555
39 torus palatinus occasional (7.5%) HP:0100789

Drugs & Therapeutics for Incontinentia Pigmenti Achromians

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Drug clinical trials:

Search ClinicalTrials for Incontinentia Pigmenti Achromians

Search NIH Clinical Center for Incontinentia Pigmenti Achromians

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:

31
Skin, Cerebellum, Testes, Eye, Small intestine

Animal Models for Incontinentia Pigmenti Achromians or affiliated genes

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Publications for Incontinentia Pigmenti Achromians

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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

Variations for Incontinentia Pigmenti Achromians

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Clinvar genetic disease variations for Incontinentia Pigmenti Achromians:

6
id Gene Variation 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

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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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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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Sources for Incontinentia Pigmenti Achromians

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet