MCID: HYP691
MIFTS: 44

Hypomelanosis of Ito malady

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

Aliases & Classifications for Hypomelanosis of Ito

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 52Orphanet, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hypomelanosis of Ito:

Name: Hypomelanosis of Ito 50 11 46 52
Incontinentia Pigmenti Achromians 11 46 13 66
Nevus of Ito 11 46 52
Incontinentia Pigmenti Type 1 46 52
Ito Hypomelanosis 46 52
Incontinentia Pigmenti Achromians Syndrome 11
Nevus Fuscocaeruleus Acromiodeltoideus 52
Incontinentia Pigmenti Syndrome 11
 
Pigmentary Mosaicism, Ito Type 52
Bloch-Siemans Syndrome 11
Pigmentation Disorders 37
Hi Syndrome 52
Nevi of Ito 46
Ito's Nevus 11
Ito 46
Ipa 46

Characteristics:

Orphanet epidemiological data:

52
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

HPO:

62
hypomelanosis of ito:
Inheritance: heterogeneous, somatic mosaicism


Classifications:



External Ids:

OMIM50 300337
Disease Ontology11 DOID:3156
MeSH37 D010859
NCIt43 C7582
ICD10 via Orphanet29 D22.6, Q87.8
UMLS via Orphanet67 C0022283

Summaries for Hypomelanosis of Ito

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NIH Rare Diseases:46 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 renpenning syndrome, 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 TNF signaling pathway and G12-G13 in Cellular Signaling. Affiliated tissues include skin, cerebellum and eye, and related mouse phenotypes are integument and cardiovascular system.

Description from OMIM:50 300337

Related Diseases for Hypomelanosis of Ito

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



Diseases related to hypomelanosis of ito

Symptoms for Hypomelanosis of Ito

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Symptoms by clinical synopsis from OMIM:

300337

Clinical features from OMIM:

300337

Symptoms:

 52 (show all 45)
  • cryptorchidism
  • nephropathy
  • abnormality of the teeth
  • brachycephaly
  • microcephaly
  • macrocephaly
  • dolichocephaly
  • delayed cranial suture closure
  • hypertelorism
  • depressed nasal ridge
  • abnormality of the cornea
  • strabismus
  • myopia
  • chorioretinal coloboma
  • microphthalmos
  • upslanted palpebral fissure
  • abnormality of the ear
  • iris coloboma
  • nystagmus
  • hemangioma
  • hypopigmented skin patches
  • heterochromia iridis
  • triphalangeal thumb
  • intellectual disability
  • seizures
  • muscular hypotonia
  • global developmental delay
  • intrauterine growth retardation
  • generalized hirsutism
  • abnormality of neuronal migration
  • scoliosis
  • abnormality of the lower limb
  • abnormality of the upper limb
  • genu varum
  • spina bifida occulta
  • clinodactyly of the 5th finger
  • aplasia/hypoplasia of the cerebellum
  • corneal opacity
  • abnormality of macular pigmentation
  • aplasia/hypoplasia of the iris
  • joint contracture of the 3rd finger
  • schizencephaly
  • arteriovenous malformation
  • asymmetric growth
  • torus palatinus

HPO human phenotypes related to Hypomelanosis of Ito:

(show all 62)
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
40 thick lower lip vermilion HP:0000179
41 microcephaly HP:0000252
42 macrocephaly HP:0000256
43 coarse facial features HP:0000280
44 epicanthus HP:0000286
45 hypertelorism HP:0000316
46 strabismus HP:0000486
47 cataract HP:0000518
48 iris coloboma HP:0000612
49 syndactyly HP:0001159
50 hand polydactyly HP:0001161
51 intellectual disability HP:0001249
52 seizures HP:0001250
53 alopecia HP:0001596
54 abnormality of metabolism/homeostasis HP:0001939
55 cerebral atrophy HP:0002059
56 gray matter heterotopias HP:0002281
57 scoliosis HP:0002650
58 kyphosis HP:0002808
59 macular hypopigmented whorls, streaks, and patches HP:0005593
60 irregularly spaced teeth HP:0006316
61 radial deviation of finger HP:0009466
62 clinodactyly HP:0030084

UMLS symptoms related to Hypomelanosis of Ito:


seizures, achromia of skin

Drugs & Therapeutics for Hypomelanosis of Ito

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hypomelanosis of Ito


Cochrane evidence based reviews: pigmentation disorders

Genetic Tests for Hypomelanosis of Ito

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Anatomical Context for Hypomelanosis of Ito

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MalaCards organs/tissues related to Hypomelanosis of Ito:

34
Skin, Cerebellum, Eye

Animal Models for Hypomelanosis of Ito or affiliated genes

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MGI Mouse Phenotypes related to Hypomelanosis of Ito:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1COL5A1, DLX3, IGF2, IKBKG, PLOD1
2MP:00053857.1AKT3, COL5A1, DLX3, IGF2, IKBKG, PLOD1
3MP:00107686.8AKT3, COL5A1, DLX3, IGF2, IKBKG, PLOD1

Publications for Hypomelanosis of Ito

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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
Hypomelanosis of Ito presenting with adult-onset dementia and marked enlarged Virchow-Robin spaces. (25992531)
2015
4
Linear Leukoplakia and Central Nervous System Lesions: A Clinical Clue to the Diagnosis of Hypomelanosis of Ito. (26148661)
2015
5
Identification of Hypomelanosis of Ito in Pediatric Primary Care. (25698313)
2015
6
Hypomelanosis of Ito. (26564088)
2015
7
Hypomelanosis of Ito: a round on the frequency and type of epileptic complications. (25586695)
2015
8
Hypomelanosis of Ito presenting with pediatric orthopedic issues: a case report. (24886611)
2014
9
Hypomelanosis of Ito. (25327093)
2014
10
Pharmacoresistant epilepsy in hypomelanosis of Ito: palliative surgical treatment with modified anatomic posterior quadrantic resection. (25012005)
2014
11
Pigmentary mosaicism of the hypopigmented type (hypomelanosis of Ito): hypopigmented lesions with serrated and irregular borders. (25179245)
2014
12
Hypomelanosis of Ito with an unusual pulmonary abnormality in an infant. (24860762)
2014
13
Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report. (25301139)
2014
14
The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature. (27493406)
2014
15
Hypomelanosis of Ito and multiple naevoid hypertrichosis: Rare cutaneous mosaicism. (23425222)
2013
16
Incontinentia pigmenti and hypomelanosis of Ito. (23622185)
2013
17
Teaching NeuroImages: hypomelanosis of Ito. (23509054)
2013
18
Hemimegalencephaly in a Patient With Coexisting Trisomy 21 and Hypomelanosis of Ito. (23266943)
2012
19
Choroid plexus papilloma in a girl with hypomelanosis of Ito. (22793165)
2012
20
New association between ring chromosome 20 syndrome and hypomelanosis of Ito. (22000318)
2011
21
Retinoblastoma presenting in a child with hypomelanosis of Ito. (22216075)
2011
22
Hypomelanosis of Ito with tessellated fundus and polymicrogyria. (20519794)
2010
23
Hypomelanosis of Ito with hemimegalencephaly. (19951648)
2009
24
Hypomelanosis of Ito and Sturge-Weber syndrome without facial nevus: an association or a new syndrome? (19380080)
2009
25
Trisomy 2 mosaicism in hypomelanosis of Ito. (17853474)
2007
26
A cutaneous disease with multisystem involvement: hypomelanosis of Ito may be associated with proteinuria, focal segmental glomerulosclerosis and end-stage renal disease. (17347282)
2007
27
Coexistence of two neurocutaneous syndromes: tuberous sclerosis and hypomelanosis of Ito. (17314448)
2007
28
An unusual association of pigmentary mosaicism (hypomelanosis of Ito) with generalized hypertrichosis. (16681611)
2006
29
Streptococcal exanthem in a blaschkolinear pattern: clinical evidence for genetic mosaicism in hypomelanosis of ito. (12383100)
2002
30
Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry. (12239727)
2002
31
Hemimegalencephaly in hypomelanosis of Ito: early sonographic pattern and peculiar MR findings in a newborn. (10996771)
2000
32
Familial hypomelanosis of ito: implications for genetic counselling. (11074501)
2000
33
Hypomelanosis of Ito associated with hemimegalencephaly: a clinicopathological study. (9367304)
1997
34
Characterisation of X;17(q12;p13) translocation breakpoints in a female patient with hypomelanosis of Ito and choroid plexus papilloma. (9195154)
1997
35
Sporadic hypomelanosis of Ito with focal hypertrichosis in a 16-month-old girl. (8864626)
1996
36
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. (8673139)
1996
37
Hypomelanosis of Ito associated with West syndrome: report of a case. (7920084)
1994
38
Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): further evidence of localization at Xp11. (8322815)
1993
39
Hypomelanosis of Ito associated with palmoplantar keratoderma and normal magnetic resonance imaging findings. (1386062)
1992
40
Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians). (1623628)
1992
41
Hypomelanosis of Ito and hemimegalencephaly. (1669255)
1990
42
Hypomelanosis of Ito (incontinentia pigmenti achromians). Ophthalmological evidence for somatic mosaicism. (2096355)
1990
43
Hypomelanosis of Ito (incontinentia pigmenti achromians). (3248857)
1988
44
Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. (3464561)
1986
45
Insulin dependent diabetes and goitre in a case of hypomelanosis of Ito (Incontinentia Pigmenti Achromians). (4037692)
1985
46
Hypomelanosis of Ito (incontinentia pigmenti achromians)--a clinicopathologic study: macrocephaly and gray matter heterotopias. (7202148)
1982
47
A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians). (290427)
1979
48
Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome. (830915)
1977
49
Incontinentia pigmenti achromians (hypomelanosis of Ito). (884049)
1977
50
Hypomelanosis of Ito ("incontinentia pigmenti achromians"). Report of three cases and review of the literature. (4633268)
1973

Variations for Hypomelanosis of Ito

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Clinvar genetic disease variations for Hypomelanosis of Ito:

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 Hypomelanosis of Ito

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Search GEO for disease gene expression data for Hypomelanosis of Ito.

Pathways for genes affiliated with Hypomelanosis of Ito

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GO Terms for genes affiliated with Hypomelanosis of Ito

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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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet