HMI
MCID: HYP691
MIFTS: 57

Hypomelanosis of Ito (HMI)

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

Aliases & Classifications for Hypomelanosis of Ito

MalaCards integrated aliases for Hypomelanosis of Ito:

Name: Hypomelanosis of Ito 57 12 53 59 37 15
Incontinentia Pigmenti Achromians 57 12 76 53 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 vitiligo-associated multiple autoimmune disease susceptibility 1 and ehlers-danlos syndrome, and has symptoms including seizures, muscle weakness and polydipsia. An important gene associated with Hypomelanosis of Ito is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma), and among its related pathways/superpathways are Pathways in cancer and MAPK Pathway. 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 117)
# Related Disease Score Top Affiliating Genes
1 vitiligo-associated multiple autoimmune disease susceptibility 1 31.0 MITF TYR
2 ehlers-danlos syndrome 30.0 COL5A1 PLOD1
3 albinism 29.4 MITF TYR
4 x-linked intellectual disability, golabi-ito-hall type 12.1
5 incontinentia pigmenti 11.7
6 pigmentation disease 11.6
7 renpenning syndrome 1 11.4
8 nevoid hypermelanosis, linear and whorled 11.3
9 hyperinsulinemic hypoglycemia, familial, 6 11.0
10 hyper-ige recurrent infection syndrome, autosomal recessive 10.9
11 legius syndrome 10.7
12 hemimegalencephaly 10.5
13 papilloma 10.4
14 psoriasis 10.3
15 cerebral atrophy 10.3
16 autism 10.3
17 tuberous sclerosis 10.3
18 epilepsy 10.3
19 hypertrichosis 10.3
20 kidney disease 10.3
21 sturge-weber syndrome 10.2
22 papilloma of choroid plexus 10.2
23 precocious puberty 10.2
24 trisomy 2 mosaicism 10.2
25 weber syndrome 10.2
26 nevus of ota 10.1
27 brittle cornea syndrome 2 10.1 COL5A1 PLOD1
28 angelman syndrome 10.1
29 cleft palate, isolated 10.1
30 hemifacial microsomia 10.1
31 prader-willi syndrome 10.1
32 retinoblastoma 10.1
33 split-hand/foot malformation 1 10.1
34 tuberous sclerosis 1 10.1
35 moyamoya disease 1 10.1
36 neuroblastoma 10.1
37 kearns-sayre syndrome 10.1
38 focal segmental glomerulosclerosis 1 10.1
39 wilms tumor 6 10.1
40 west syndrome 10.1
41 alopecia 10.1
42 focal segmental glomerulosclerosis 10.1
43 exanthem 10.1
44 polycystic kidney disease 10.1
45 arteriovenous malformation 10.1
46 dementia 10.1
47 rhabdomyosarcoma 10.1
48 palmoplantar keratosis 10.1
49 polymicrogyria 10.1
50 leukoplakia 10.1

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:


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

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 behavior/neurological MP:0005386 9.77 AKT3 IKBKG MITF PLOD1 TYR
2 cardiovascular system MP:0005385 9.72 AKT3 COL5A1 IKBKG PLOD1 TYR
3 integument MP:0010771 9.65 COL5A1 IKBKG MITF PLOD1 TYR
4 mortality/aging MP:0010768 9.63 AKT3 COL5A1 IKBKG MITF PLOD1 TYR
5 normal MP:0002873 9.35 AKT3 COL5A1 IKBKG MITF TYR
6 pigmentation MP:0001186 8.8 IKBKG MITF TYR

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, Kidney, Brain, Liver, Thyroid

Publications for Hypomelanosis of Ito

Articles related to Hypomelanosis of Ito:

(show top 50) (show all 189)
# Title Authors Year
1
Manifestations of hypomelanosis of Ito. ( 29681459 )
2018
2
Hypomelanosis of Ito with gynaecomastia and dental anomaly. ( 29982187 )
2018
3
Possible Correlation between Hypomelanosis of Ito and Wilms' Tumor. ( 30123603 )
2018
4
Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports. ( 26962770 )
2016
5
Hypomelanosis of Ito (pigmentary mosaicism of the hypopigmented type) with endoplasmic reticulum stress in melanocytes. ( 27282842 )
2016
6
A rare case of hypomelanosis of Ito presenting with generalized alopecia. ( 27467104 )
2016
7
Identification of Hypomelanosis of Ito in Pediatric Primary Care. ( 25698313 )
2015
8
Hypomelanosis of Ito presenting with adult-onset dementia and marked enlarged Virchow-Robin spaces. ( 25992531 )
2015
9
Hypomelanosis of Ito. ( 26564088 )
2015
10
Hypomelanosis of Ito: a round on the frequency and type of epileptic complications. ( 25586695 )
2015
11
Linear Leukoplakia and Central Nervous System Lesions: A Clinical Clue to the Diagnosis of Hypomelanosis of Ito. ( 26148661 )
2015
12
The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature. ( 27493406 )
2014
13
Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report. ( 25301139 )
2014
14
Hypomelanosis of Ito. ( 25327093 )
2014
15
Hypomelanosis of Ito presenting with pediatric orthopedic issues: a case report. ( 24886611 )
2014
16
Pigmentary mosaicism of the hypopigmented type (hypomelanosis of Ito): hypopigmented lesions with serrated and irregular borders. ( 25179245 )
2014
17
Pharmacoresistant epilepsy in hypomelanosis of Ito: palliative surgical treatment with modified anatomic posterior quadrantic resection. ( 25012005 )
2014
18
Hypomelanosis of Ito with an unusual pulmonary abnormality in an infant. ( 24860762 )
2014
19
Incontinentia pigmenti and hypomelanosis of Ito. ( 23622185 )
2013
20
Hypomelanosis of Ito and multiple naevoid hypertrichosis: Rare cutaneous mosaicism. ( 23425222 )
2013
21
Teaching NeuroImages: hypomelanosis of Ito. ( 23509054 )
2013
22
Hemimegalencephaly in a Patient With Coexisting Trisomy 21 and Hypomelanosis of Ito. ( 23266943 )
2012
23
Hypomelanosis of Ito: neurological and psychiatric pictures in developmental age. ( 22350047 )
2012
24
Choroid plexus papilloma in a girl with hypomelanosis of Ito. ( 22793165 )
2012
25
Retinoblastoma presenting in a child with hypomelanosis of Ito. ( 22216075 )
2011
26
New association between ring chromosome 20 syndrome and hypomelanosis of Ito. ( 22000318 )
2011
27
Sexual precocity in hypomelanosis of Ito: mosaicism-associated case report and literature review. ( 21244380 )
2011
28
Hypomelanosis of Ito: pigmentary mosaicism with immature melanosome in keratinocytes. ( 21950289 )
2011
29
Hypomelanosis of Ito with tessellated fundus and polymicrogyria. ( 20519794 )
2010
30
Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature. ( 19902142 )
2010
31
Hypomelanosis of Ito and Sturge-Weber syndrome without facial nevus: an association or a new syndrome? ( 19380080 )
2009
32
Hypomelanosis of Ito with hemimegalencephaly. ( 19951648 )
2009
33
Developmental disability and hypomelanosis of Ito in a female with 7.3 Mb de novo duplication of Xp11.3-p11.4 and random X inactivation. ( 19876908 )
2009
34
Images in Cardiovascular Medicine. Hypoplasia of the abdominal aorta and hypomelanosis of ito: "pseudo-cauda equina" imaging. ( 19917896 )
2009
35
Glomerulocystic kidney disease in hypomelanosis of Ito. ( 18392644 )
2008
36
Cortical visual impairment in hypomelanosis of Ito. ( 18705622 )
2008
37
Hypomelanosis of Ito with cerebral malformation. ( 18057691 )
2007
38
Trisomy 2 mosaicism in hypomelanosis of Ito. ( 17853474 )
2007
39
A cutaneous disease with multisystem involvement: hypomelanosis of Ito may be associated with proteinuria, focal segmental glomerulosclerosis and end-stage renal disease. ( 17347282 )
2007
40
Coexistence of two neurocutaneous syndromes: tuberous sclerosis and hypomelanosis of Ito. ( 17314448 )
2007
41
Hypomelanosis of ito-whorled hyperpigmentation combination: a mirror image presentation. ( 17958820 )
2007
42
An unusual association of pigmentary mosaicism (hypomelanosis of Ito) with generalized hypertrichosis. ( 16681611 )
2006
43
Hypomelanosis of Ito associated with precocious puberty. ( 16376280 )
2006
44
A balanced reciprocal translocation in a case of hypomelanosis of Ito with confirmation of mosaicism using buccal cell interphase FISH. ( 16596668 )
2006
45
Hypomelanosis of Ito and precocious adrenarche in a girl. ( 16607932 )
2006
46
Neurological pictures. Hypomelanosis of Ito. ( 16788014 )
2006
47
Clinical findings of the phakomatoses: hypomelanosis of Ito. ( 16801637 )
2006
48
Hypomelanosis of Ito. ( 27407850 )
2006
49
Neurosurgical management of medically intractable epilepsy associated with hypomelanosis of Ito. ( 15679517 )
2005
50
Hypomelanosis of Ito and Moyamoya disease. ( 16417866 )
2005

Variations for Hypomelanosis of Ito

ClinVar genetic disease variations for Hypomelanosis of Ito:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IKBKG IKBKG, EXON 4-10 DEL deletion Pathogenic
2 IKBKG IKBKG, 1-BP INS, 1110C insertion Pathogenic
3 IKBKG NM_003639.4(IKBKG): c.1219A> G (p.Met407Val) single nucleotide variant Pathogenic rs137853322 GRCh37 Chromosome X, 153792635: 153792635
4 IKBKG NM_003639.4(IKBKG): c.1219A> G (p.Met407Val) single nucleotide variant Pathogenic rs137853322 GRCh38 Chromosome X, 154564420: 154564420
5 IKBKG NM_003639.4(IKBKG): c.1259A> G (p.Ter420Trp) single nucleotide variant Pathogenic rs137853321 GRCh37 Chromosome X, 153792675: 153792675
6 IKBKG NM_003639.4(IKBKG): c.1259A> G (p.Ter420Trp) single nucleotide variant Pathogenic rs137853321 GRCh38 Chromosome X, 154564460: 154564460
7 IKBKG IKBKG, 10-BP INS, NT127 insertion Pathogenic
8 IKBKG NM_003639.4(IKBKG): c.184C> T (p.Arg62Ter) single nucleotide variant Pathogenic rs137853323 GRCh37 Chromosome X, 153780401: 153780401
9 IKBKG NM_003639.4(IKBKG): c.184C> T (p.Arg62Ter) single nucleotide variant Pathogenic rs137853323 GRCh38 Chromosome X, 154552186: 154552186

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:

# Super pathways Score Top Affiliating Genes
1 12.22 AKT3 IKBKG MITF
2
Show member pathways
11.53 AKT3 IKBKG
3 11.45 AKT3 IKBKG
4 11.34 AKT3 IKBKG
5
Show member pathways
11.18 AKT3 IKBKG
6 10.99 AKT3 IKBKG
7 10.91 AKT3 IKBKG MITF
8 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 collagen fibril organization GO:0030199 8.96 COL5A1 PLOD1
2 pigmentation GO:0043473 8.62 MITF TYR

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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