MCID: HYP691
MIFTS: 42

Hypomelanosis of Ito malady

Categories: Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Hypomelanosis of Ito

About this section
Sources:
11Disease Ontology, 13DISEASES, 31ICD10 via Orphanet, 39MeSH, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hypomelanosis of Ito:

Name: Hypomelanosis of Ito 52 11 48 54
Incontinentia Pigmenti Achromians 11 48 13 68
Nevus of Ito 11 48 54
Pigmentation Disorders 39 68
Ito Hypomelanosis 48 54
Incontinentia Pigmenti Achromians Syndrome 11
Nevus Fuscocaeruleus Acromiodeltoideus 54
Incontinentia Pigmenti Syndrome 11
Pigmentary Mosaicism, Ito Type 54
 
Incontinentia Pigmenti Type 1 54
Skin Pigmentation Disorder 68
Bloch-Siemans Syndrome 11
Nevi of Ito 48
Ito's Nevus 11
Hi Syndrome 54
Ipa 48
Ito 48

Characteristics:

Orphanet epidemiological data:

54
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
nevus of ito:
Inheritance: Not applicable; Age of onset: All ages

HPO:

64
hypomelanosis of ito:
Inheritance: heterogeneous, somatic mosaicism

Classifications:



External Ids:

OMIM52 300337
Disease Ontology11 DOID:3156
MeSH39 D010859
NCIt45 C7582
UMLS via Orphanet69 C0022283
ICD10 via Orphanet31 D22.6, Q87.8

Summaries for Hypomelanosis of Ito

About this section
NIH Rare Diseases:48 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: Hypomelanosis of Ito, also known as incontinentia pigmenti achromians, is related to x-linked intellectual disability, golabi-ito-hall type and incontinentia pigmenti, and has symptoms including abnormality of the fontanelles or cranial sutures, strabismus and hypopigmented skin patches. An important gene associated with Hypomelanosis of Ito is IKBKG (Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Gamma), and among its related pathways are G12-G13 in Cellular Signaling and MAPK Pathway. Affiliated tissues include skin, cerebellum and eye, and related mouse phenotypes are Decreased cell proliferation and integument.

Description from OMIM:52 300337

Related Diseases for Hypomelanosis of Ito

About this section

Diseases related to Hypomelanosis of Ito via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1x-linked intellectual disability, golabi-ito-hall type11.8
2incontinentia pigmenti11.5
3pigmentation disease11.4
4nevoid hypermelanosis, linear and whorled11.1
5dyschromatosis symmetrica hereditaria10.8
6reticulate acropigmentation of kitamura10.8
7hyperinsulinism-hyperammonemia syndrome10.7
8hyper-ige recurrent infection syndrome, autosomal recessive10.7
9dowling-degos disease 110.7
10dowling-degos disease 210.7
11vitiligo-associated multiple autoimmune disease susceptibility 110.5
12hemimegalencephaly10.3
13hypertrichosis10.1
14nevus of ota10.1
15choroid plexus papilloma10.0
16choroiditis10.0
17papilloma10.0
18trisomy 2 mosaicism10.0
19weber syndrome10.0
20hodgkin's lymphoma, lymphocytic-histiocytic predominance10.0COL5A1, PLOD1
21toxic myocarditis9.9COL5A1, PLOD1
22retinoblastoma9.9
23prader-willi syndrome9.9
24angelman syndrome9.9
25kearns-sayre syndrome9.9
26west syndrome9.9
27alopecia9.9
28focal segmental glomerulosclerosis9.9
29exanthem9.9
30glomerulosclerosis9.9
31dementia9.9
32ehlers-danlos syndrome9.9
33epilepsy9.9
34cerebritis9.9
35polymicrogyria9.9
36leukoplakia9.9
37precocious puberty9.9
38ring chromosome 209.9
39angiomatosis9.9
40cataract9.8
41anorexia nervosa9.7
42aspergillosis9.7
43motor neuron disease9.7
44acute cystitis9.7
45cystitis9.7
46neuronitis9.7
47eating disorder9.7
48hypoxia9.7
49oculocutaneous albinism9.5
50albinism9.5

Graphical network of the top 20 diseases related to Hypomelanosis of Ito:



Diseases related to hypomelanosis of ito

Symptoms & Phenotypes for Hypomelanosis of Ito

About this section

Symptoms by clinical synopsis from OMIM:

300337

Clinical features from OMIM:

300337

Human phenotypes related to Hypomelanosis of Ito:

 64 54 (show all 70)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures64 hallmark (90%) HP:0000235
2 strabismus64 54 hallmark (90%) Very frequent (99-80%) HP:0000486
3 hypopigmented skin patches64 54 hallmark (90%) Very frequent (99-80%) HP:0001053
4 heterochromia iridis64 54 hallmark (90%) Very frequent (99-80%) HP:0001100
5 seizures64 54 hallmark (90%) Very frequent (99-80%) HP:0001250
6 aplasia/hypoplasia of the iris64 54 hallmark (90%) Very frequent (99-80%) HP:0008053
7 macrocephaly64 54 typical (50%) Frequent (79-30%) HP:0000256
8 hypertelorism64 54 typical (50%) Frequent (79-30%) HP:0000316
9 myopia64 54 typical (50%) Frequent (79-30%) HP:0000545
10 upslanted palpebral fissure64 54 typical (50%) Frequent (79-30%) HP:0000582
11 abnormality of the macula64 typical (50%) HP:0001103
12 muscular hypotonia64 54 typical (50%) Frequent (79-30%) HP:0001252
13 abnormality of chromosome segregation64 typical (50%) HP:0002916
14 spina bifida occulta64 54 typical (50%) Frequent (79-30%) HP:0003298
15 abnormality of dental morphology64 typical (50%) HP:0006482
16 opacification of the corneal stroma64 typical (50%) HP:0007759
17 cognitive impairment64 typical (50%) HP:0100543
18 cryptorchidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000028
19 nephropathy64 54 occasional (7.5%) Occasional (29-5%) HP:0000112
20 microcephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000252
21 dolichocephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000268
22 hearing abnormality64 occasional (7.5%) HP:0000364
23 depressed nasal ridge64 54 occasional (7.5%) Occasional (29-5%) HP:0000457
24 chorioretinal coloboma64 54 occasional (7.5%) Occasional (29-5%) HP:0000567
25 iris coloboma64 54 occasional (7.5%) Occasional (29-5%) HP:0000612
26 nystagmus64 54 occasional (7.5%) Occasional (29-5%) HP:0000639
27 hypertrichosis64 occasional (7.5%) HP:0000998
28 triphalangeal thumb64 54 occasional (7.5%) Occasional (29-5%) HP:0001199
29 intrauterine growth retardation64 54 occasional (7.5%) Occasional (29-5%) HP:0001511
30 abnormality of neuronal migration64 54 occasional (7.5%) Occasional (29-5%) HP:0002269
31 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
32 genu varum64 54 occasional (7.5%) Occasional (29-5%) HP:0002970
33 deviation of finger64 occasional (7.5%) HP:0004097
34 aplasia/hypoplasia of the cerebellum64 54 occasional (7.5%) Occasional (29-5%) HP:0007360
35 schizencephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0010636
36 arteriovenous malformation64 54 occasional (7.5%) Occasional (29-5%) HP:0100026
37 camptodactyly of finger64 occasional (7.5%) HP:0100490
38 asymmetric growth64 54 occasional (7.5%) Occasional (29-5%) HP:0100555
39 torus palatinus64 54 occasional (7.5%) Occasional (29-5%) HP:0100789
40 thick lower lip vermilion64 HP:0000179
41 coarse facial features64 HP:0000280
42 epicanthus64 HP:0000286
43 cataract64 HP:0000518
44 syndactyly64 HP:0001159
45 hand polydactyly64 HP:0001161
46 intellectual disability64 54 Frequent (79-30%) HP:0001249
47 alopecia64 HP:0001596
48 abnormality of metabolism/homeostasis64 HP:0001939
49 cerebral atrophy64 HP:0002059
50 gray matter heterotopias64 HP:0002281
51 kyphosis64 HP:0002808
52 macular hypopigmented whorls, streaks, and patches64 HP:0005593
53 irregularly spaced teeth64 HP:0006316
54 radial deviation of finger64 HP:0009466
55 clinodactyly64 HP:0030084
56 abnormality of the teeth54 Frequent (79-30%)
57 brachycephaly54 Occasional (29-5%)
58 delayed cranial suture closure54 Very frequent (99-80%)
59 abnormality of the cornea54 Frequent (79-30%)
60 microphthalmia54 Occasional (29-5%)
61 abnormality of the ear54 Occasional (29-5%)
62 hemangioma54 Occasional (29-5%)
63 global developmental delay54 Frequent (79-30%)
64 generalized hirsutism54 Occasional (29-5%)
65 abnormality of the lower limb54 Occasional (29-5%)
66 abnormality of the upper limb54 Occasional (29-5%)
67 clinodactyly of the 5th finger54 Occasional (29-5%)
68 corneal opacity54 Frequent (79-30%)
69 abnormality of macular pigmentation54 Frequent (79-30%)
70 joint contracture of the 3rd finger54 Occasional (29-5%)

UMLS symptoms related to Hypomelanosis of Ito:


seizures, achromia of skin, schistosomal pigment deposition, drug pigmentation, exanthema, pruritus, skin manifestations, melanin pigmentation of cornea, blood pigmentation of cornea, yellow complexion, malarial pigment deposition

GenomeRNAi Phenotypes related to Hypomelanosis of Ito according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00353-A10.2AKT3, IKBKG

MGI Mouse Phenotypes related to Hypomelanosis of Ito according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5COL5A1, DLX3, IGF2, IKBKG, PLOD1
2MP:00053857.9AKT3, COL5A1, DLX3, IGF2, IKBKG, PLOD1
3MP:00107687.1AKT3, COL5A1, DLX3, IGF2, IKBKG, PLOD1

Drugs & Therapeutics for Hypomelanosis of Ito

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hypomelanosis of Ito


Cochrane evidence based reviews: pigmentation disorders

Genetic Tests for Hypomelanosis of Ito

About this section

Anatomical Context for Hypomelanosis of Ito

About this section

MalaCards organs/tissues related to Hypomelanosis of Ito:

36
Skin, Cerebellum, Eye

Publications for Hypomelanosis of Ito

About this section

Articles related to Hypomelanosis of Ito:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Hypomelanosis of Ito (pigmentary mosaicism of the hypopigmented type) with endoplasmic reticulum stress in melanocytes. (27282842)
2016
2
A rare case of hypomelanosis of Ito presenting with generalized alopecia. (27467104)
2016
3
Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports. (26962770)
2016
4
Hypomelanosis of Ito presenting with adult-onset dementia and marked enlarged Virchow-Robin spaces. (25992531)
2015
5
Linear Leukoplakia and Central Nervous System Lesions: A Clinical Clue to the Diagnosis of Hypomelanosis of Ito. (26148661)
2015
6
Identification of Hypomelanosis of Ito in Pediatric Primary Care. (25698313)
2015
7
Hypomelanosis of Ito. (26564088)
2015
8
Hypomelanosis of Ito: a round on the frequency and type of epileptic complications. (25586695)
2015
9
Hypomelanosis of Ito presenting with pediatric orthopedic issues: a case report. (24886611)
2014
10
Hypomelanosis of Ito. (25327093)
2014
11
Pharmacoresistant epilepsy in hypomelanosis of Ito: palliative surgical treatment with modified anatomic posterior quadrantic resection. (25012005)
2014
12
Pigmentary mosaicism of the hypopigmented type (hypomelanosis of Ito): hypopigmented lesions with serrated and irregular borders. (25179245)
2014
13
Hypomelanosis of Ito with an unusual pulmonary abnormality in an infant. (24860762)
2014
14
Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report. (25301139)
2014
15
The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature. (27493406)
2014
16
Hypomelanosis of Ito and multiple naevoid hypertrichosis: Rare cutaneous mosaicism. (23425222)
2013
17
Incontinentia pigmenti and hypomelanosis of Ito. (23622185)
2013
18
Teaching NeuroImages: hypomelanosis of Ito. (23509054)
2013
19
Hemimegalencephaly in a Patient With Coexisting Trisomy 21 and Hypomelanosis of Ito. (23266943)
2012
20
Choroid plexus papilloma in a girl with hypomelanosis of Ito. (22793165)
2012
21
New association between ring chromosome 20 syndrome and hypomelanosis of Ito. (22000318)
2011
22
Retinoblastoma presenting in a child with hypomelanosis of Ito. (22216075)
2011
23
Hypomelanosis of Ito with tessellated fundus and polymicrogyria. (20519794)
2010
24
Hypomelanosis of Ito with hemimegalencephaly. (19951648)
2009
25
Hypomelanosis of Ito and Sturge-Weber syndrome without facial nevus: an association or a new syndrome? (19380080)
2009
26
Trisomy 2 mosaicism in hypomelanosis of Ito. (17853474)
2007
27
A cutaneous disease with multisystem involvement: hypomelanosis of Ito may be associated with proteinuria, focal segmental glomerulosclerosis and end-stage renal disease. (17347282)
2007
28
Coexistence of two neurocutaneous syndromes: tuberous sclerosis and hypomelanosis of Ito. (17314448)
2007
29
Hypomelanosis of Ito with cerebral malformation. (18057691)
2007
30
An unusual association of pigmentary mosaicism (hypomelanosis of Ito) with generalized hypertrichosis. (16681611)
2006
31
Hypomelanosis of Ito associated with precocious puberty. (16376280)
2006
32
Streptococcal exanthem in a blaschkolinear pattern: clinical evidence for genetic mosaicism in hypomelanosis of ito. (12383100)
2002
33
Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry. (12239727)
2002
34
Hypomelanosis of Ito with Sturge-Weber syndrome-like leptomeningeal angiomatosis. (12437559)
2002
35
Hemimegalencephaly in hypomelanosis of Ito: early sonographic pattern and peculiar MR findings in a newborn. (10996771)
2000
36
Familial hypomelanosis of ito: implications for genetic counselling. (11074501)
2000
37
Kearns Sayre syndrome initially presenting as hypomelanosis of Ito. (10532933)
1999
38
Hypomelanosis of Ito associated with hemimegalencephaly: a clinicopathological study. (9367304)
1997
39
Characterisation of X;17(q12;p13) translocation breakpoints in a female patient with hypomelanosis of Ito and choroid plexus papilloma. (9195154)
1997
40
Sporadic hypomelanosis of Ito with focal hypertrichosis in a 16-month-old girl. (8864626)
1996
41
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. (8673139)
1996
42
Hypomelanosis of Ito associated with West syndrome: report of a case. (7920084)
1994
43
Hypomelanosis of Ito (incontinentia pigmenti achromians). (7511121)
1994
44
Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): further evidence of localization at Xp11. (8322815)
1993
45
Hypomelanosis of Ito associated with palmoplantar keratoderma and normal magnetic resonance imaging findings. (1386062)
1992
46
Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians). (1623628)
1992
47
The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito. (1611213)
1992
48
The ocular changes of incontinentia pigmenti achromians (hypomelanosis of Ito). (1890574)
1991
49
Hypomelanosis of Ito and hemimegalencephaly. (1669255)
1990
50
Hypomelanosis of Ito (incontinentia pigmenti achromians). Ophthalmological evidence for somatic mosaicism. (2096355)
1990

Variations for Hypomelanosis of Ito

About this section

Clinvar genetic disease variations for Hypomelanosis of Ito:

5
id Gene Variation Type Significance SNP ID Assembly Location
1IKBKGIKBKG, EXON 4-10 DELdeletionPathogenicChr na, -1: -1
2IKBKGIKBKG, 1-BP INS, 1110CinsertionPathogenicChr na, -1: -1
3IKBKGNM_003639.4(IKBKG): c.1219A> G (p.Met407Val)SNVPathogenicrs137853322GRCh37Chr X, 153792635: 153792635
4IKBKGNM_003639.4(IKBKG): c.1259A> G (p.Ter420Trp)SNVPathogenicrs137853321GRCh37Chr X, 153792675: 153792675
5IKBKGIKBKG, 10-BP INS, NT127insertionPathogenicChr na, -1: -1
6IKBKGNM_003639.4(IKBKG): c.184C> T (p.Arg62Ter)SNVPathogenicrs137853323GRCh37Chr X, 153780401: 153780401

Expression for genes affiliated with Hypomelanosis of Ito

About this section
Search GEO for disease gene expression data for Hypomelanosis of Ito.

Pathways for genes affiliated with Hypomelanosis of Ito

About this section

GO Terms for genes affiliated with Hypomelanosis of Ito

About this section

Biological processes related to Hypomelanosis of Ito according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood vessel developmentGO:00015689.5COL5A1, DLX3

Sources for Hypomelanosis of Ito

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet