IPA
MCID: HYP691
MIFTS: 42

Hypomelanosis of Ito (IPA) malady

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

Aliases & Classifications for Hypomelanosis of Ito

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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 Sulzberger Syndrome 68
Bloch-Siemans Syndrome 11
Hi Syndrome 54
Ito's Nevus 11
Nevi of Ito 48
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

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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 muscle spasticity, seizures and seizures. An important gene associated with Hypomelanosis of Ito is COL5A1 (Collagen Type V Alpha 1 Chain), and among its related pathways are TNF signaling pathway and LT-BetaR 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

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



Diseases related to hypomelanosis of ito

Symptoms & Phenotypes for Hypomelanosis of Ito

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Symptoms by clinical synopsis from OMIM:

300337

Clinical features from OMIM:

300337

Human phenotypes related to Hypomelanosis of Ito:

 54 64 (show all 60)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Occasional (29-5%) HP:0000028
2 nephropathy64 54 Occasional (29-5%) HP:0000112
3 abnormality of the teeth64 54 Frequent (79-30%) HP:0000164
4 brachycephaly64 54 Occasional (29-5%) HP:0000248
5 microcephaly64 54 Occasional (29-5%) HP:0000252
6 macrocephaly64 54 Frequent (79-30%) HP:0000256
7 dolichocephaly64 54 Occasional (29-5%) HP:0000268
8 delayed cranial suture closure64 54 Very frequent (99-80%) HP:0000270
9 hypertelorism64 54 Frequent (79-30%) HP:0000316
10 depressed nasal ridge64 54 Occasional (29-5%) HP:0000457
11 abnormality of the cornea54 Frequent (79-30%)
12 strabismus64 54 Very frequent (99-80%) HP:0000486
13 myopia64 54 Frequent (79-30%) HP:0000545
14 chorioretinal coloboma64 54 Occasional (29-5%) HP:0000567
15 microphthalmia64 54 Occasional (29-5%) HP:0000568
16 upslanted palpebral fissure64 54 Frequent (79-30%) HP:0000582
17 abnormality of the ear64 54 Occasional (29-5%) HP:0000598
18 iris coloboma64 54 Occasional (29-5%) HP:0000612
19 nystagmus64 54 Occasional (29-5%) HP:0000639
20 hemangioma64 54 Occasional (29-5%) HP:0001028
21 hypopigmented skin patches64 54 Very frequent (99-80%) HP:0001053
22 heterochromia iridis64 54 Very frequent (99-80%) HP:0001100
23 triphalangeal thumb64 54 Occasional (29-5%) HP:0001199
24 intellectual disability64 54 Frequent (79-30%) HP:0001249
25 seizures64 54 Very frequent (99-80%) HP:0001250
26 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
27 global developmental delay64 54 Frequent (79-30%) HP:0001263
28 intrauterine growth retardation64 54 Occasional (29-5%) HP:0001511
29 generalized hirsutism64 54 Occasional (29-5%) HP:0002230
30 abnormality of neuronal migration64 54 Occasional (29-5%) HP:0002269
31 scoliosis64 54 Occasional (29-5%) HP:0002650
32 abnormality of the lower limb54 Occasional (29-5%)
33 abnormality of the upper limb54 Occasional (29-5%)
34 genu varum64 54 Occasional (29-5%) HP:0002970
35 spina bifida occulta64 54 Frequent (79-30%) HP:0003298
36 clinodactyly of the 5th finger64 54 Occasional (29-5%) HP:0004209
37 aplasia/hypoplasia of the cerebellum64 54 Occasional (29-5%) HP:0007360
38 corneal opacity64 54 Frequent (79-30%) HP:0007957
39 abnormality of macular pigmentation64 54 Frequent (79-30%) HP:0008002
40 aplasia/hypoplasia of the iris64 54 Very frequent (99-80%) HP:0008053
41 joint contracture of the 3rd finger64 54 Occasional (29-5%) HP:0009319
42 schizencephaly64 54 Occasional (29-5%) HP:0010636
43 arteriovenous malformation64 54 Occasional (29-5%) HP:0100026
44 asymmetric growth64 54 Occasional (29-5%) HP:0100555
45 torus palatinus64 54 Occasional (29-5%) HP:0100789
46 thick lower lip vermilion64 HP:0000179
47 coarse facial features64 HP:0000280
48 epicanthus64 HP:0000286
49 cataract64 HP:0000518
50 syndactyly64 HP:0001159
51 hand polydactyly64 HP:0001161
52 alopecia64 HP:0001596
53 abnormality of metabolism/homeostasis64 HP:0001939
54 cerebral atrophy64 HP:0002059
55 gray matter heterotopias64 HP:0002281
56 kyphosis64 HP:0002808
57 macular hypopigmented whorls, streaks, and patches64 HP:0005593
58 irregularly spaced teeth64 HP:0006316
59 radial deviation of finger64 HP:0009466
60 clinodactyly64 HP:0030084

UMLS symptoms related to Hypomelanosis of Ito:


muscle spasticity, seizures, exanthema, pruritus, polydipsia, muscle weakness

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

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

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4COL5A1, 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

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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:

36
Skin, Cerebellum, Eye

Publications for Hypomelanosis of Ito

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Articles related to Hypomelanosis of Ito:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
A rare case of hypomelanosis of Ito presenting with generalized alopecia. (27467104)
2016
2
Hypomelanosis of Ito (pigmentary mosaicism of the hypopigmented type) with endoplasmic reticulum stress in melanocytes. (27282842)
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
Hypomelanosis of Ito: a round on the frequency and type of epileptic complications. (25586695)
2015
7
Identification of Hypomelanosis of Ito in Pediatric Primary Care. (25698313)
2015
8
Hypomelanosis of Ito. (26564088)
2015
9
Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report. (25301139)
2014
10
Pharmacoresistant epilepsy in hypomelanosis of Ito: palliative surgical treatment with modified anatomic posterior quadrantic resection. (25012005)
2014
11
Hypomelanosis of Ito with an unusual pulmonary abnormality in an infant. (24860762)
2014
12
Hypomelanosis of Ito presenting with pediatric orthopedic issues: a case report. (24886611)
2014
13
Pigmentary mosaicism of the hypopigmented type (hypomelanosis of Ito): hypopigmented lesions with serrated and irregular borders. (25179245)
2014
14
Hypomelanosis of Ito. (25327093)
2014
15
The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature. (27493406)
2014
16
Incontinentia pigmenti and hypomelanosis of Ito. (23622185)
2013
17
Teaching NeuroImages: hypomelanosis of Ito. (23509054)
2013
18
Hypomelanosis of Ito and multiple naevoid hypertrichosis: Rare cutaneous mosaicism. (23425222)
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 and Sturge-Weber syndrome without facial nevus: an association or a new syndrome? (19380080)
2009
25
Hypomelanosis of Ito with hemimegalencephaly. (19951648)
2009
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
Hypomelanosis of Ito with cerebral malformation. (18057691)
2007
29
Trisomy 2 mosaicism in hypomelanosis of Ito. (17853474)
2007
30
Hypomelanosis of Ito associated with precocious puberty. (16376280)
2006
31
An unusual association of pigmentary mosaicism (hypomelanosis of Ito) with generalized hypertrichosis. (16681611)
2006
32
Hypomelanosis of Ito with Sturge-Weber syndrome-like leptomeningeal angiomatosis. (12437559)
2002
33
Streptococcal exanthem in a blaschkolinear pattern: clinical evidence for genetic mosaicism in hypomelanosis of ito. (12383100)
2002
34
Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry. (12239727)
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
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. (8673139)
1996
41
Sporadic hypomelanosis of Ito with focal hypertrichosis in a 16-month-old girl. (8864626)
1996
42
Hypomelanosis of Ito (incontinentia pigmenti achromians). (7511121)
1994
43
Hypomelanosis of Ito associated with West syndrome: report of a case. (7920084)
1994
44
Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): further evidence of localization at Xp11. (8322815)
1993
45
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
46
Hypomelanosis of Ito associated with palmoplantar keratoderma and normal magnetic resonance imaging findings. (1386062)
1992
47
Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians). (1623628)
1992
48
The ocular changes of incontinentia pigmenti achromians (hypomelanosis of Ito). (1890574)
1991
49
Hypomelanosis of Ito (incontinentia pigmenti achromians). Ophthalmological evidence for somatic mosaicism. (2096355)
1990
50
Hypomelanosis of Ito and hemimegalencephaly. (1669255)
1990

Variations for Hypomelanosis of Ito

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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
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