MCID: HYP691
MIFTS: 51

Hypomelanosis of Ito

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

Aliases & Classifications for Hypomelanosis of Ito

MalaCards integrated aliases for Hypomelanosis of Ito:

Name: Hypomelanosis of Ito 57 12 53 59 37
Incontinentia Pigmenti Achromians 57 12 76 53 15 73
Ito Hypomelanosis 57 53 59
Nevus of Ito 12 53 59
Pigmentation Disorders 44 73
Ipa 57 53
Ito 57 53
Incontinentia Pigmenti, Type I, Formerly; Ip1, Formerly 57
Incontinentia Pigmenti Achromians Syndrome 12
Incontinentia Pigmenti, Type I, Formerly 57
Incontinentia Pigmenti Achromians; Ipa 57
Nevus Fuscocaeruleus Acromiodeltoideus 59
Incontinentia Pigmenti Syndrome 12
Pigmentary Mosaicism, Ito Type 59
Incontinentia Pigmenti Type 1 59
Skin Pigmentation Disorder 73
Bloch Sulzberger Syndrome 73
Ito Hypomelanosis; Ito 57
Bloch-Siemans Syndrome 12
Ip1, Formerly 57
Ito's Nevus 12
Nevi of Ito 53
Hi Syndrome 59
Hmi 57

Characteristics:

Orphanet epidemiological data:

59
nevus of ito
Inheritance: Not applicable; Age of onset: All ages;
ito hypomelanosis
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;

OMIM:

57
Inheritance:
somatic mosaicism

Miscellaneous:
most cases sporadic
heterogeneous
a nonspecific marker of somatic mosaicism
skin abnormalities can be present at birth or appear later in infancy or childhood
seventy percent of cases have associated anomalies


HPO:

32
hypomelanosis of ito:
Inheritance somatic mosaicism heterogeneous


Classifications:



Summaries for Hypomelanosis of Ito

NIH Rare Diseases : 53 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.

MalaCards based summary : Hypomelanosis of Ito, also known as incontinentia pigmenti achromians, is related to ehlers-danlos syndrome and x-linked intellectual disability, golabi-ito-hall type, and has symptoms including muscle spasticity, seizures and exanthema. An important gene associated with Hypomelanosis of Ito is COL5A1 (Collagen Type V Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and NFAT and Cardiac Hypertrophy. Affiliated tissues include skin, eye and cerebellum, and related phenotypes are macrocephaly and hypertelorism

Disease Ontology : 12 A skin disease.

Wikipedia : 76 Incontinentia pigmenti achromians (also known as \"hypomelanosis of Ito\") is a cutaneous condition... more...

Description from OMIM: 300337

Related Diseases for Hypomelanosis of Ito

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

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 29.3 COL5A1 PLOD1
2 x-linked intellectual disability, golabi-ito-hall type 11.9
3 incontinentia pigmenti 11.6
4 pigmentation disease 11.4
5 nevoid hypermelanosis, linear and whorled 11.2
6 peroxisome disorders 11.0
7 hyperinsulinemic hypoglycemia, familial, 6 10.9
8 hyper-ige recurrent infection syndrome, autosomal recessive 10.7
9 vitiligo-associated multiple autoimmune disease susceptibility 1 10.5
10 legius syndrome 10.5
11 hemimegalencephaly 10.3
12 hypertrichosis 10.2
13 nevus of ota 10.2
14 sturge-weber syndrome 10.1
15 papilloma of choroid plexus 10.1
16 choroiditis 10.1
17 papilloma 10.1
18 trisomy 2 mosaicism 10.1
19 weber syndrome 10.1
20 brittle cornea syndrome 2 10.0 COL5A1 PLOD1
21 angelman syndrome 10.0
22 prader-willi syndrome 10.0
23 retinoblastoma 10.0
24 aging 10.0
25 kearns-sayre syndrome 10.0
26 focal segmental glomerulosclerosis 1 10.0
27 west syndrome 10.0
28 alopecia 10.0
29 focal segmental glomerulosclerosis 10.0
30 exanthem 10.0
31 dementia 10.0
32 tuberous sclerosis 10.0
33 epilepsy 10.0
34 palmoplantar keratosis 10.0
35 cerebritis 10.0
36 polymicrogyria 10.0
37 leukoplakia 10.0
38 mosaic trisomy 13 10.0
39 precocious puberty 10.0
40 ring chromosome 20 10.0
41 angiomatosis 10.0
42 reticulate acropigmentation of kitamura 9.9
43 cataract 9.9
44 mongolian spot 9.9
45 phacomatosis pigmentovascularis 9.9
46 anorexia nervosa 9.8
47 aspergillosis 9.8
48 motor neuron disease 9.8
49 acute cystitis 9.8
50 cystitis 9.8

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



Diseases related to Hypomelanosis of Ito

Symptoms & Phenotypes for Hypomelanosis of Ito

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
microcephaly

Skeletal Hands:
clinodactyly
syndactyly
polydactyly

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Teeth:
irregularly spaced teeth

Head And Neck Face:
coarse facies

Laboratory Abnormalities:
chromosomal mosaicism in fibroblast and/or peripheral lymphocytes no consistent karyotypic finding

Head And Neck Eyes:
hypertelorism
cataract
strabismus
iris coloboma
epicanthal folds

Neurologic Central Nervous System:
seizures
cerebral atrophy
mental retardation
gray matter heterotopias

Skin Nails Hair Hair:
alopecia

Head And Neck Mouth:
thick lips

Skin Nails Hair Skin:
macular hypopigmented whorls, streaks, and patches
no inflammatory or bullous skin lesions


Clinical features from OMIM:

300337

Human phenotypes related to Hypomelanosis of Ito:

59 32 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
3 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
4 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
5 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
8 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
9 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
10 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
11 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
12 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
13 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
14 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
15 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
16 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
17 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
18 arteriovenous malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0100026
19 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
20 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
21 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
22 abnormality of neuronal migration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002269
23 aplasia/hypoplasia of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007360
24 heterochromia iridis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001100
25 chorioretinal coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000567
26 depressed nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000457
27 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
28 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
29 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
30 genu varum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002970
31 abnormality of macular pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0008002
32 spina bifida occulta 59 32 frequent (33%) Frequent (79-30%) HP:0003298
33 aplasia/hypoplasia of the iris 59 32 hallmark (90%) Very frequent (99-80%) HP:0008053
34 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
35 triphalangeal thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001199
36 asymmetric growth 59 32 occasional (7.5%) Occasional (29-5%) HP:0100555
37 delayed cranial suture closure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000270
38 hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001028
39 abnormality of the ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000598
40 torus palatinus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100789
41 joint contracture of the 3rd finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0009319
42 schizencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0010636
43 clinodactyly 32 HP:0030084
44 kyphosis 32 HP:0002808
45 coarse facial features 32 HP:0000280
46 cataract 32 HP:0000518
47 abnormality of metabolism/homeostasis 32 HP:0001939
48 thick lower lip vermilion 32 HP:0000179
49 epicanthus 32 HP:0000286
50 alopecia 32 HP:0001596

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell proliferation GR00353-A 8.62 AKT3 IKBKG

MGI Mouse Phenotypes related to Hypomelanosis of Ito:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 AKT3 COL5A1 DLX3 IGF2 IKBKG PLOD1
2 integument MP:0010771 9.35 IGF2 IKBKG PLOD1 COL5A1 DLX3
3 mortality/aging MP:0010768 9.1 AKT3 COL5A1 DLX3 IGF2 IKBKG PLOD1

Drugs & Therapeutics for Hypomelanosis of Ito

Search Clinical Trials , NIH Clinical Center for Hypomelanosis of Ito

Cochrane evidence based reviews: pigmentation disorders

Genetic Tests for Hypomelanosis of Ito

Anatomical Context for Hypomelanosis of Ito

MalaCards organs/tissues related to Hypomelanosis of Ito:

41
Skin, Eye, Cerebellum, Brain, Small Intestine

Publications for Hypomelanosis of Ito

Articles related to Hypomelanosis of Ito:

(show top 50) (show all 95)
# Title Authors Year
1
Manifestations of hypomelanosis of Ito. ( 29681459 )
2018
2
Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports. ( 26962770 )
2016
3
Hypomelanosis of Ito (pigmentary mosaicism of the hypopigmented type) with endoplasmic reticulum stress in melanocytes. ( 27282842 )
2016
4
A rare case of hypomelanosis of Ito presenting with generalized alopecia. ( 27467104 )
2016
5
Identification of Hypomelanosis of Ito in Pediatric Primary Care. ( 25698313 )
2015
6
Hypomelanosis of Ito presenting with adult-onset dementia and marked enlarged Virchow-Robin spaces. ( 25992531 )
2015
7
Hypomelanosis of Ito. ( 26564088 )
2015
8
Hypomelanosis of Ito: a round on the frequency and type of epileptic complications. ( 25586695 )
2015
9
Linear Leukoplakia and Central Nervous System Lesions: A Clinical Clue to the Diagnosis of Hypomelanosis of Ito. ( 26148661 )
2015
10
The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature. ( 27493406 )
2014
11
Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report. ( 25301139 )
2014
12
Hypomelanosis of Ito. ( 25327093 )
2014
13
Hypomelanosis of Ito presenting with pediatric orthopedic issues: a case report. ( 24886611 )
2014
14
Pigmentary mosaicism of the hypopigmented type (hypomelanosis of Ito): hypopigmented lesions with serrated and irregular borders. ( 25179245 )
2014
15
Pharmacoresistant epilepsy in hypomelanosis of Ito: palliative surgical treatment with modified anatomic posterior quadrantic resection. ( 25012005 )
2014
16
Hypomelanosis of Ito with an unusual pulmonary abnormality in an infant. ( 24860762 )
2014
17
Incontinentia pigmenti and hypomelanosis of Ito. ( 23622185 )
2013
18
Hypomelanosis of Ito and multiple naevoid hypertrichosis: Rare cutaneous mosaicism. ( 23425222 )
2013
19
Teaching NeuroImages: hypomelanosis of Ito. ( 23509054 )
2013
20
Hemimegalencephaly in a Patient With Coexisting Trisomy 21 and Hypomelanosis of Ito. ( 23266943 )
2012
21
Hypomelanosis of Ito: neurological and psychiatric pictures in developmental age. ( 22350047 )
2012
22
Choroid plexus papilloma in a girl with hypomelanosis of Ito. ( 22793165 )
2012
23
Retinoblastoma presenting in a child with hypomelanosis of Ito. ( 22216075 )
2011
24
New association between ring chromosome 20 syndrome and hypomelanosis of Ito. ( 22000318 )
2011
25
Hypomelanosis of Ito with tessellated fundus and polymicrogyria. ( 20519794 )
2010
26
Hypomelanosis of Ito and Sturge-Weber syndrome without facial nevus: an association or a new syndrome? ( 19380080 )
2009
27
Hypomelanosis of Ito with hemimegalencephaly. ( 19951648 )
2009
28
Hypomelanosis of Ito with cerebral malformation. ( 18057691 )
2007
29
Trisomy 2 mosaicism in hypomelanosis of Ito. ( 17853474 )
2007
30
A cutaneous disease with multisystem involvement: hypomelanosis of Ito may be associated with proteinuria, focal segmental glomerulosclerosis and end-stage renal disease. ( 17347282 )
2007
31
Coexistence of two neurocutaneous syndromes: tuberous sclerosis and hypomelanosis of Ito. ( 17314448 )
2007
32
An unusual association of pigmentary mosaicism (hypomelanosis of Ito) with generalized hypertrichosis. ( 16681611 )
2006
33
Incontinentia pigmenti achromians of Ito: an ultrastructural study. ( 16579015 )
2006
34
Hypomelanosis of Ito associated with precocious puberty. ( 16376280 )
2006
35
Hemihypertrophy and primary small intestinal lymphangiectasia in incontinentia pigmenti achromians. ( 15531848 )
2004
36
Hypomelanosis of Ito with Sturge-Weber syndrome-like leptomeningeal angiomatosis. ( 12437559 )
2002
37
Hypomelanosis of ito with trisomy 13 mosaicism [46, XY, der (13;13) (q10;q10), +13/46,xy]. ( 12026206 )
2002
38
Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry. ( 12239727 )
2002
39
Streptococcal exanthem in a blaschkolinear pattern: clinical evidence for genetic mosaicism in hypomelanosis of ito. ( 12383100 )
2002
40
Hemimegalencephaly in hypomelanosis of Ito: early sonographic pattern and peculiar MR findings in a newborn. ( 10996771 )
2000
41
Familial hypomelanosis of ito: implications for genetic counselling. ( 11074501 )
2000
42
Kearns Sayre syndrome initially presenting as hypomelanosis of Ito. ( 10532933 )
1999
43
Hypomelanosis of Ito. ( 9669134 )
1998
44
[Hypomelanosis of Ito]. ( 9432199 )
1997
45
Hypomelanosis of Ito associated with hemimegalencephaly: a clinicopathological study. ( 9367304 )
1997
46
Characterisation of X;17(q12;p13) translocation breakpoints in a female patient with hypomelanosis of Ito and choroid plexus papilloma. ( 9195154 )
1997
47
Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito. ( 9039996 )
1997
48
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. ( 8673139 )
1996
49
Hypomelanosis of Ito and brain abnormalities: MRI findings and literature review. ( 8929372 )
1996
50
Sporadic hypomelanosis of Ito with focal hypertrichosis in a 16-month-old girl. ( 8864626 )
1996

Variations for Hypomelanosis of Ito

Expression for Hypomelanosis of Ito

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

Pathways for Hypomelanosis of Ito

Pathways related to Hypomelanosis of Ito according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 AKT3 IGF2 IKBKG
2
Show member pathways
12.39 AKT3 IGF2 IKBKG
3 12.33 AKT3 IGF2 IKBKG
4
Show member pathways
12.25 AKT3 IGF2 IKBKG
5 12.17 AKT3 IGF2 IKBKG
6
Show member pathways
11.97 AKT3 IGF2 IKBKG
7
Show member pathways
11.64 AKT3 IKBKG
8 11.61 AKT3 IKBKG
9 11.56 AKT3 IGF2
10 11.53 AKT3 IKBKG
11 11.43 AKT3 IKBKG
12
Show member pathways
11.32 AKT3 IKBKG
13 11.1 AKT3 IKBKG
14
Show member pathways
10.95 AKT3 IGF2 IKBKG
15 10.69 AKT3 IKBKG

GO Terms for Hypomelanosis of Ito

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

# Name GO ID Score Top Affiliating Genes
1 activation of MAPK activity GO:0000187 8.96 IGF2 IKBKG
2 blood vessel development GO:0001568 8.62 COL5A1 DLX3

Molecular functions related to Hypomelanosis of Ito according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.62 COL5A1 IGF2

Sources for Hypomelanosis of Ito

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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