Hypomelanosis of Ito disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HMI MCID: HYP691 MIFTS: 53	Hypomelanosis of Ito (HMI) Categories: Neuronal diseases, Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Hypomelanosis of Ito

MalaCards integrated aliases for Hypomelanosis of Ito:

Name: Hypomelanosis of Ito ⁵⁶ ¹² ⁵² ³⁶ ¹⁵

Incontinentia Pigmenti Achromians ⁵⁶ ¹² ⁷⁴ ⁵² ⁷¹

Nevus of Ito ¹² ⁵² ⁵⁸ ¹⁷

Pigmentation Disorders ⁴³ ⁷¹

Ito Hypomelanosis ⁵⁶ ⁵²

Ipa ⁵⁶ ⁵²

Ito ⁵⁶ ⁵²

Incontinentia Pigmenti, Type I, Formerly; Ip1, Formerly ⁵⁶

Incontinentia Pigmenti Achromians Syndrome ¹²

Incontinentia Pigmenti, Type I, Formerly ⁵⁶

Incontinentia Pigmenti Achromians; Ipa ⁵⁶

Nevus Fuscocaeruleus Acromiodeltoideus ⁵⁸

Skin Pigmentation Disorder ⁷¹

Bloch Sulzberger Syndrome ⁷¹

Ito Hypomelanosis; Ito ⁵⁶

Bloch-Siemans Syndrome ¹²

Ip1, Formerly ⁵⁶

Ito's Nevus ¹²

Nevi of Ito ⁵²

Hmi ⁵⁶

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Miscellaneous:
heterogeneous
most cases sporadic
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

Inheritance:
somatic mosaicism

HPO:

³¹

hypomelanosis of ito:
Inheritance heterogeneous somatic mosaicism

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Neoplasms

Benign neoplasms

Melanocytic naevi

Melanocytic naevi of upper limb, including shoulder

Orphanet: ⁵⁸

Rare skin diseases

External Ids:

Disease Ontology ¹² DOID:3156

OMIM ⁵⁶ 300337

KEGG ³⁶ H00885

MeSH ⁴³ D010859

NCIt ⁴⁹ C7582

SNOMED-CT ⁶⁷ 48543002

ICD10 via Orphanet ³³ D22.6

UMLS via Orphanet ⁷² C0022283

Orphanet ⁵⁸ ORPHA263432

MedGen ⁴¹ C0022283

EFO ¹⁷ EFO_1000395

UMLS ⁷¹ C0021171 C0022283 C0549567 more

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Summaries for Hypomelanosis of Ito

NIH Rare Diseases : ⁵² 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 dowling-degos disease 1 and lentigines, and has symptoms including seizures, muscle weakness and polydipsia. An important gene associated with Hypomelanosis of Ito is TYR (Tyrosinase), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Aldosterone synthesis and secretion. The drugs Bleomycin and Viscosupplements have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain, and related phenotypes are coarse facial features and cataract

Disease Ontology : ¹² A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation).

KEGG : ³⁶ Hypomelanosis of Ito is a neurocutaneous syndrome with hypopigmented whorls of skin along the Blaschko lines associated with other congenital defects of central nervous system, the eye, and skeletal system. The hypomelanotic lesions are present at birth and in these lesions decrease in the number of melanocytes is observed. Hypomelanosis of Ito includes many different states of chromosomal mosaicism.

Wikipedia : ⁷⁴ Incontinentia pigmenti achromians (also known as "hypomelanosis of Ito") is a cutaneous condition... more...

More information from OMIM: 300337

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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 379)

#	Related Disease	Score	Top Affiliating Genes
1	dowling-degos disease 1	30.8	TYR MITF KIT
2	lentigines	30.3	TYR MITF KIT
3	mongolian spot	30.2	GNAQ GNA11
4	piebald trait	30.0	TYR MITF KIT
5	ochronosis	29.9	TYR MITF
6	west syndrome	29.6	TUBA1A PAFAH1B1 DEPDC5 ARFGEF2
7	skin melanoma	29.1	TYR MITF KIT GNAQ GNA11
8	hemangioma	29.0	KIT GNAQ GNA11
9	melanoma	28.9	TYR MITF KIT GNAQ GNA11 AKT3
10	x-linked intellectual disability, golabi-ito-hall type	12.2
11	renpenning syndrome 1	12.2
12	incontinentia pigmenti	11.9
13	hemimegalencephaly	11.8
14	pigmentation anomaly of the skin	11.7
15	nevoid hypermelanosis, linear and whorled	11.5
16	neurodevelopmental disorder with absent language and variable seizures	11.4
17	legius syndrome	10.9
18	chromosomal triplication	10.6
19	seizure disorder	10.5
20	hypotonia	10.5
21	visual epilepsy	10.5
22	autism	10.4
23	hypertrichosis	10.4
24	hemihyperplasia, isolated	10.4
25	scoliosis	10.4
26	microcephaly	10.4
27	squamous cell papilloma	10.4
28	papilloma	10.4
29	vitiligo-associated multiple autoimmune disease susceptibility 6	10.3
30	dermatitis, atopic	10.3
31	vitiligo-associated multiple autoimmune disease susceptibility 1	10.3
32	lymphangiectasis	10.3
33	dysentery	10.3
34	cutaneous ganglioneuroma	10.3	MITF KIT
35	ocular albinism with congenital sensorineural deafness	10.3	TYR MITF
36	strabismus	10.3
37	inguinal hernia	10.3
38	tuberous sclerosis	10.3
39	kidney disease	10.3
40	mechanical strabismus	10.3
41	precocious puberty	10.3
42	overgrowth syndrome	10.3
43	liver disease	10.3
44	autosomal dominant non-syndromic intellectual disability 19	10.3	MITF AKT3
45	aspergillosis	10.3
46	posterior uveal melanoma	10.2	MITF GNAQ
47	cleft palate, isolated	10.2
48	hypertelorism	10.2
49	retinal detachment	10.2
50	split-hand/foot malformation 1	10.2

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

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Symptoms & Phenotypes for Hypomelanosis of Ito

Human phenotypes related to Hypomelanosis of Ito:

³¹ (show all 23)

#	Description	HPO Source Accession
1	coarse facial features ³¹	HP:0000280
2	cataract ³¹	HP:0000518
3	intellectual disability ³¹	HP:0001249
4	hypertelorism ³¹	HP:0000316
5	scoliosis ³¹	HP:0002650
6	kyphosis ³¹	HP:0002808
7	macrocephaly ³¹	HP:0000256
8	microcephaly ³¹	HP:0000252
9	abnormality of metabolism/homeostasis ³¹	HP:0001939
10	thick lower lip vermilion ³¹	HP:0000179
11	strabismus ³¹	HP:0000486
12	epicanthus ³¹	HP:0000286
13	alopecia ³¹	HP:0001596
14	iris coloboma ³¹	HP:0000612
15	hand polydactyly ³¹	HP:0001161
16	gray matter heterotopia ³¹	HP:0002282
17	cerebral atrophy ³¹	HP:0002059
18	radial deviation of finger ³¹	HP:0009466
19	clinodactyly ³¹	HP:0030084
20	syndactyly ³¹	HP:0001159
21	irregularly spaced teeth ³¹	HP:0006316
22	seizure ³¹	HP:0001250
23	macular hypopigmented whorls, streaks, and patches ³¹	HP:0005593

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Head And Neck Head:
macrocephaly
microcephaly

Skin Nails Hair Hair:
alopecia

Head And Neck Teeth:
irregularly spaced teeth

Head And Neck Mouth:
thick lips

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

Skeletal Spine:
scoliosis
kyphosis

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

Skeletal Hands:
clinodactyly
polydactyly
syndactyly

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

Head And Neck Face:
coarse facies

Clinical features from OMIM:

300337

UMLS symptoms related to Hypomelanosis of Ito:

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

MGI Mouse Phenotypes related to Hypomelanosis of Ito:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.22	AKT3 ARFGEF2 COL5A1 DEPDC5 GNA11 GNAQ
2	behavior/neurological	MP:0005386	10.17	AKT3 DEPDC5 GNA11 GNAQ KIT LRRC7
3	mortality/aging	MP:0010768	10.07	AKT3 ARFGEF2 COL5A1 DEPDC5 GNA11 GNAQ
4	nervous system	MP:0003631	9.9	AKT3 ARFGEF2 DEPDC5 GNA11 GNAQ KIT
5	integument	MP:0010771	9.87	COL5A1 GNA11 GNAQ KIT MITF PLOD1
6	hearing/vestibular/ear	MP:0005377	9.77	GNA11 GNAQ KIT MITF TYR
7	normal	MP:0002873	9.5	AKT3 COL5A1 GNA11 GNAQ KIT MITF
8	pigmentation	MP:0001186	9.02	GNA11 GNAQ KIT MITF TYR

Sources

Drugs & Therapeutics for Hypomelanosis of Ito

Drugs for Hypomelanosis of Ito (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Bleomycin

Approved, Investigational

Phase 4

11056-06-7

5360373

Synonyms:

(betaR)-N(alpha)-{[6-amino-2-((1S)-3-amino-1-{[(2S)-2,3-diamino-3-oxopropyl]amino}-3-oxopropyl)-5-methylpyrimidin-4-yl]carbonyl}-beta-{2-O-[3-O-(aminocarbonyl)-alpha-D-mannopyranosyl]-alpha-L-gulopyranosyloxy}-N-[(1R,2S,3S)-5-({(1S,2R)-1-[({2-[4-({[3-(dimethylsulfonio)propyl]amino}carbonyl)-2,4'-bi-1,3-thiazol-2'-yl]ethyl}amino)carbonyl]-2-hydroxypropyl}amino)-3-hydroxy-4-methyl-5-oxopentan-2-yl]-L-histidinamide

11056-06-7

11116-31-7

1400-95-9

3-[[2-[2-[2-[[(2S,3R)-2-[[(2S,3S,4R)-4-[[(2S)-2-[[6-amino-2-[(1S)-3-amino-1-[[(2S)-2,3-diamino-3-oxopropyl]amino]-3-oxopropyl]-5-methylpyrimidine-4-carbonyl]amino]-3-[(2R,3S,4S,5S,6S)-3-[(2R,3S,4S,5R,6R)-4-carbamoyloxy-3,5-dihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-4,5-dihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-3-(1H-imidazol-5-yl)propanoyl]amino]-3-hydroxy-2-methylpentanoyl]amino]-3-hydroxybutanoyl]amino]ethyl]-1,3-thiazol-4-yl]-1,3-thiazole-4-carbonyl]amino]propyl-dimethylsulfanium

3-[[2-[2-[2-[[(2S,3R)-2-[[(2S,3S,4R)-4-[[(2S,3R)-2-[[6-amino-2-[(1S)-3-amino-1-[[(2S)-2,3-diamino-3-oxopropyl]amino]-3-oxopropyl]-5-methylpyrimidine-4-carbonyl]amino]-3-[(2R,3S,4S,5S,6S)-3-[(2R,3S,4S,5R,6R)-4-carbamoyloxy-3,5-dihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-4,5-dihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-3-(1H-imidazol-5-yl)propanoyl]amino]-3-hydroxy-2-methylpentanoyl]amino]-3-hydroxybutanoyl]amino]ethyl]-1,3-thiazol-4-yl]-1,3-thiazole-4-carbonyl]amino]propyl-dimethylsulfanium

3-[[2-[2-[2-[[(2S,3R)-2-[[(2S,3S,4R)-4-[[(2S,3R)-2-[[6-amino-2-[(1S)-3-amino-1-[[(2S)-2,3-diamino-3-oxopropyl]amino]-3-oxopropyl]-5-methylpyrimidine-4-carbonyl]amino]-3-[3-[4-carbamoyloxy-3,5-dihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-4,5-dihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-3-(1H-imidazol-5-yl)propanoyl]amino]-3-hydroxy-2-methylpentanoyl]amino]-3-hydroxybutanoyl]amino]ethyl]-1,3-thiazol-4-yl]-1,3-thiazole-4-carbonyl]amino]propyl-dimethylsulfanium

37208-04-1

37293-16-6

37353-43-8

9041-93-4

9041-93-4 (sulfate (salt))

AC1L9UFF

AC1NSEJD

AC1NUTOQ

Almirall brand OF bleomycin sulfate

Bellon brand OF bleomycin sulfate

Bellon, bléomycine

Blanoxan

Blenoxane

Bleo

bleo Cell

bleo-Cell

BLEOcell

Bleocin

Bleogin

Bleolem

Bleomicin

Bleomicina

Bleomicina [INN-Spanish]

bleomycin

Bleomycin

Bleomycin a(2)

Bleomycin A(2)

bleomycin a2

Bleomycin a2

Bleomycin A2

Bleomycin A2 & Bleomycin B2.

Bleomycin b(2)

Bleomycin B(2)

Bleomycin b2

Bleomycin B2

Bleomycin sulfate

Bleomycin sulphate

Bleomycine

Bleomycine [INN-French]

Bléomycine bellon

Bleomycins

Bleomycinum

Bleomycinum [INN-Latin]

Bleomycinum mack

BLM

Bristol myers squibb brand OF bleomycin sulfate

Bristol-myers squibb brand OF bleomycin sulfate

Bull brand OF bleomycin sulfate

C06854

C55H85N17O21S3

C55H86N17O21S3

CCRIS 2754

Cell pharm brand OF bleomycin sulfate

CHEBI:3139

CHEMBL403664

CID456190

CID5360373

CID5460769

DB00290

EINECS 234-356-5

HSDB 3208

Lemery brand OF bleomycin sulfate

LMPK14000006

LS-44860

LS-524

Lundbeck brand OF bleomycin sulfate

Mack brand OF bleomycin sulfate

Mack, bleomycinum

N(1)-[3-(dimethylsulfonio)propyl]bleomycinamide

N1-(3-(Dimethylsulfonio)propyl)bleomycinamide

NDC 0015-3010

NSC 125066

Pingyangmyvin A2

STOCK1N-74760

Sulfate, bleomycin

UNII-13M89UEA7W

UNII-40S1VHN69B

Zhengguangmycin A2

Zhengguangmycin A2 [Chinese]

Viscosupplements

Phase 4

Hylan

Phase 4

Pharmaceutical Solutions

Phase 4

Anti-Bacterial Agents

Phase 4

Antibiotics, Antitubercular

Phase 4

Aldesleukin

Approved

Phase 3

85898-30-2, 110942-02-4

Tacrolimus

Approved, Investigational

Phase 2, Phase 3

104987-11-3

445643 439492 6473866

Synonyms:

(-)-FK 506

(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone

104987-11-3

109581-93-3 (Hydrate)

15,19-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclotricosine-1,7,20,21(23H)-tetrone,

3S-[3R*[E(1S*,3S*,4S*)],4S*,5R*,8S*,9E,12R*,14R*,15S*,16R*,18S*,19S*,26aR*]]-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-5, 19-dihydroxy-3-[2-(4-hydroxy-3-methoxycyclohexyl)-1-methylethenyl]-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(2-propenyl)-15,19-epoxy-3H-pyrido[2,1-c] [1,4] oxaazacyclotricosine-1,7,20,21(4H,23H)-tetrone

8-DEETHYL-8-[BUT-3-ENYL]-ASCOMYCIN

AC-1182

AC1L1K7H

AC1L97GB

AC1L9IBU

Advagraf

AKOS005145901

Ambap104987-11-3

Ambap5429

Anhydrous tacrolimus

Anhydrous, tacrolimus

BCBcMAP01_000194

Bio-0921

Bio2_000470

Bio2_000950

BRD-K35452788-001-02-1

BSPBio_001279

BSPBio-001279

C01375

C44H69NO10

CCRIS 7124

CHEBI:100924

CHEBI:61049

CHEMBL1200738

CID11158639

CID11556866

CID439492

CID445643

CID5372

CID5472317

CID6426916

CID6436007

CID6473866

CID6536850

CID6610362

CID6912836

CID9832283

CID9853905

CID9918805

CID9940643

CID9963169

Cilag brand OF tacrolimus

CPD000466356

CPD-10016

D08556

DB00864

DivK1c_001040

FK 506

FK5

Fk-506

FK506

FK-506

FR 900506

FR900506

FR-900506

FT-0082660

Fujimycin

Fujisawa brand OF tacrolimus

Graceptor

HMS1362O21

HMS1792O21

HMS1990O21

HMS2051C18

HMS2093M19

HMS503O21

IDI1_001040

IDI1_002225

Janssen brand OF tacrolimus

K506

KBio1_001040

KBio2_000619

KBio2_003187

KBio2_005755

KBio3_001097

KBio3_001098

KBioGR_000619

KBioSS_000619

L 679934

L-679934

LCP-Tacro

LMPK04000003

LS-64247

MLS000759471

MLS001424054

Modigraf

MolPort-003-666-518

NCGC00163470-01

NCGC00163470-02

NCGC00163470-03

NCGC00163470-04

NCGC00179232-01

NChemBio.2007.16-comp1

nchembio.2007.23-comp2

NINDS_001040

NSC717865

Prograf

Prograf (TN)

Prograft

Protopic

Protopy

S5003_Selleck

SAM001246677

SMR000466356

Tacarolimus

tacrolimus

Tacrolimus

Tacrolimus (anhydrous)

Tacrolimus (INN)

Tacrolimus (Prograf?)

Tacrolimus anhydrous

tacrolimus hydrate

Tacrolimus, anhydrous

Tsukubaenolide

UNII-Y5L2157C4J

Antiviral Agents

Phase 3

Interleukin-2

Phase 3

Anti-HIV Agents

Phase 3

Anti-Infective Agents

Phase 3

Anti-Retroviral Agents

Phase 3

Immunosuppressive Agents

Phase 2, Phase 3

Immunologic Factors

Phase 2, Phase 3

Calcineurin Inhibitors

Phase 2, Phase 3

Hydroquinone

Approved, Investigational

Phase 2

123-31-9

785

Synonyms:

1,4-benzenediol

1,4-Benzenediol

1,4-Dihydroxy-benzeen

1,4-Dihydroxybenzen

1,4-dihydroxybenzene

1,4-Dihydroxybenzene

1,4-Dihydroxy-benzol

1,4-Diidrobenzene

4-Hydroxyphenol

a-Hydroquinone

alpha-Hydroquinone

Artra

benzene-1,4-diol

Benzene-1,4-diol

Benzohydroquinone

Benzoquinol

beta-Quinol

Black and white

b-Quinol

Dihydroquinone

Dihydroxybenzene

Eldopaque

Eldopaque forte

Eldoquin

Eldoquin forte

Esoterica

Hidroquilaude

Hidroquin

Hidroquinona isdin

Hydrochinon

Hydrochinone

Hydroquinol

Hydroquinole

Hydroquinone for synthesis

Hydroquinone GR

Hydroquinone, copper (1+) salt

Hydroquinone, lead (2+) salt (2:1)

Hydroquinone, monocopper (2+) salt

Hydroquinoue

ICN brand 1 OF hydroquinone

ICN brand 2 OF hydroquinone

ICN brand 3 OF hydroquinone

ICN brand 4 OF hydroquinone

Idrochinone

Licostrata

Lustra

Melanasa

Melanex

Melpaque

Melquin

Neostrata HQ

p-Benzenediol

P-Benzenediol

P-Dihydroxybenzene

P-Dioxobenzene

P-Dioxybenzene

Phiaquin

p-Hydroquinone

P-Hydroquinone

P-Hydroxybenzene

p-hydroxyphenol

P-Hydroxyphenol

Plough brand 1 OF hydroquinone

Plough brand 2 OF hydroquinone

Quinol

Solaquin

Solaquin forte

Stratus brand 1 OF hydroquinone

Stratus brand 2 OF hydroquinone

Ultraquin

Triamcinolone

Approved, Vet_approved

Phase 2

124-94-7

31307

Synonyms:

(8S,9R,10S,11S,13S,14S,16R,17S)-9-fluoro-11,16,17-trihydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,11,12,14,15,16-octahydrocyclopenta[a]phenanthren-3-one

11.Beta.,16.alpha.,17.alpha., 21-Tetrahydroxy-9.alpha.-fluoro-1,4-pregnadiene-3,20-dione

11.beta.,16.alpha.,17.alpha.,21-Tetrahydroxy-9.alpha.-fluoro-1,4-pregnadiene-3,20-dione

11b,16a,17a,21-Tetrahydroxy-9a-fluoro-1,4-pregnadiene-3,20-dione

11beta,16alpha,17alpha,21-Tetrahydroxy-9alpha-fluoro-1,4-pregnadiene-3,20-dione

11-beta,16-alpha,17-alpha,21-Tetrahydroxy-9-alpha-fluoro-1,4-pregnadiene-3,20-dione

11β,16α,17α,21-tetrahydroxy-9α-fluoro-1,4-pregnadiene-3,20-dione

124-94-7

4-08-00-03629 (Beilstein Handbook Reference)

83474-03-7

9.Alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahy

9.alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahydroxy-1,4-pregnadiene-3,20-dione

9.alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahydroxypregna-1,4-diene-3,20-dione

9.Alpha.-Fluoro-11.beta.,16.alpha.,17.alpha., 21-tetrahydroxypregna-1,4-diene-3,20-d

9.alpha.-Fluoro-11.beta.,16.alpha.,17.alpha.,21-tetrahydroxypregna-1,4-diene-3,20-dione

9.alpha.-Fluoro-16.alpha.-hydroxyprednisolone

9a-fluoro-11b,16a,17,21-Tetrahydroxypregna-1,4-diene-3,20-dione

9a-fluoro-11b,16a,17a,21-Tetrahydroxypregna-1,4-diene-3,20-dione

9a-fluoro-16a-Hydroxyprednisolone

9alpha-Fluoro-11beta,16alpha,17,21-tetrahydroxy-1,4-pregnadiene-3,20-dione

9alpha-fluoro-11beta,16alpha,17,21-Tetrahydroxypregna-1,4-diene-3,20-dione

9alpha-Fluoro-11beta,16alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione

9-alpha-Fluoro-11-beta,16-alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione

9alpha-fluoro-11beta,16alpha,17alpha,21-Tetrahydroxypregna-1,4-diene-3,20-dione

9alpha-fluoro-16alpha-Hydroxyprednisolone

9alpha-Fluoro-16alpha-hydroxyprednisolone

9-alpha-Fluoro-16-alpha-hydroxyprednisolone

9-Fluoro-11,16,17,21-tetrahydroxypregna-1,4-diene-3,20-dione

9-fluoro-11b,16a,17,21-Tetrahydroxypregna-1,4-diene-3,20-dione

9-fluoro-11beta,16alpha,17,21-Tetrahydroxypregna-1,4-diene-3,20-dione

9-Fluoro-11beta,16alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione

9-fluoro-11β,16α,17,21-tetrahydroxypregna-1,4-diene-3,20-dione

9α-fluoro-11β,16α,17,21-tetrahydroxypregna-1,4-diene-3,20-dione

9α-fluoro-11β,16α,17α,21-tetrahydroxypregna-1,4-diene-3,20-dione

9α-fluoro-16α-hydroxyprednisolone

AC1L1LDH

AC1Q5HJC

AC-2072

Adcortyl

Aristocort

Aristocort A

Aristocort Tablets

Aristogel

Aristospan

Azmacort

Bio-0662

BPBio1_000154

BRD-K77554836-001-03-3

BRN 2341955

BSPBio_000140

C21H27FO6

Celeste

CHEMBL1451

CID31307

Cinolone

Cinolone-T

CL 19823

D00385

D014221

DB00620

Delphicort

droxypregna-1,4-diene-3,20-dione

EINECS 204-718-7

EU-0101179

Fluoxiprednisolone

Fluoxyprednisolone

Flutex

Fougera

HMS1568G22

HMS2090D12

HSDB 3194

ione

Kenacort

Kenacort (TN)

Kenacort-A

Kenacort-Ag

Kenacort-AG

Kenalog

Kenalog in Orabase

Kenalog-10

Kenalog-40

Kenalog-H

Ledercort

Lopac0_001179

LS-698

MLS000028542

MLS001066543

MLS002695935

MolPort-002-528-981

Mycolog

Nasacort

Nasacort Aq

Nasacort Hfa

NCGC00021580-03

NCGC00021580-04

NCGC00021580-05

NCGC00021580-06

NCGC00021580-07

nchembio.2007.53-comp7

NCI60_000750

NSC 13397

NSC13397

Omcilon

Omicilon

Oracort

Oralone

Orion

Polcortolon

Pregna-1,4-diene-3,20-dio

Pregna-1,4-diene-3,20-dione, 9-fluoro-11,16,17,21-tetrahydroxy-, (11beta,16alpha)

Pregna-1,4-diene-3,20-dione, 9-fluoro-11beta,16alpha,17,21-tetrahydroxy- (8CI)

Prestwick_438

Prestwick0_000120

Prestwick1_000120

Prestwick2_000120

Prestwick3_000120

Rodinolone

S1933_Selleck

Sk-Triamcinolone

SK-Triamcinolone

SMP1_000300

SMR000058333

SPBio_002079

T6376_SIGMA

Tiamcinolonum

Tiamcinolonum [INN-Latin]

Triacet

Triacort

Triamcet

Triamcinalone

Triamcinlon

Triamcinolon

Triamcinolona

Triamcinolona [INN-Spanish]

triamcinolone

Triamcinolone

Triamcinolone (JP15/USP/INN)

TRIAMCINOLONE (SEE ALSO TRIAMCINOLONE ACETONIDE (76-25-5) AND TRIAMCINOLONE DIACETATE (67-78-7))

Triamcinolone [USAN:INN:BAN:JAN]

Triamcinolone acetonide

Triamcinolone diacetate

Triamcinolone hexacetonide

Triamcinolonum

Triamcinolonum [INN]

Triam-Tablinen

Triatex

Tricortale

Triderm

Trilone

Tri-Nasal

Tristoject

Trymex

UNII-1ZK20VI6TY

Vetalog

Volon

Volon A

WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ GQ

ZINC03882036

Tretinoin

Approved, Investigational, Nutraceutical

Phase 2

302-79-4

444795 5538

Synonyms:

(2E,4E,6E,8E)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenoate

(all-e)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate

(all-e)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid

(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid

.beta.-Retinoic acid

[3H]Retinoic acid

13497-05-7 (hydrochloride salt)

15-Apo-beta-caroten-15-oic acid

187175-63-9

1n4h

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoate (ecl)

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoic acid (ecl)

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoic acid (ECL)

302-79-4

5300-03-8

56573-65-0

7005-78-9

9(Z)-Retinoic acid

9-cis-RA

A-Acido (Argentina)

Aberel

Aberela

Aberela [Norway]

AC1L9GWO

AC1Q1J2J

AC-6824

Accutane Roche

Acid A Vit (Belgium, Netherlands)

Acid, all-trans-retinoic

Acid, all-trans-Retinoic

Acid, beta-all-trans-retinoic

Acid, beta-all-trans-Retinoic

Acid, retinoic

Acid, Retinoic

Acid, trans-retinoic

Acid, trans-Retinoic

Acid, vitamin a

Acid, Vitamin A

Acide retinoique

Acide retinoique (French) (DSL)

Acnavit

Acnavit [Denmark]

AGN 100335

AGN 192013

Airol

Aknefug

Aknoten

AKOS000280845

Alitretinoin

all trans Retinoic acid

All Trans Retinoic Acid

all trans-Retinoic acid

All Trans-Retinoic Acid

all-(e)-Retinoate

all-(e)-Retinoic acid

all-(E)-Retinoic acid

All-trans Retinoic Acid

all-trans-beta-Retinoate

all-trans-beta-Retinoic acid

all-trans-b-Retinoate

all-trans-b-Retinoic acid

all-trans-Retinoic acid

Alltrans-retinoic acid

all-trans-Tretinoin

all-trans-Vitamin a acid

all-trans-Vitamin A acid

all-trans-Vitamin a1 acid

all-trans-Vitamin A1 acid

all-trans-β-retinoate

all-trans-β-retinoic acid

ALRT 1057

Amnesteem

ATRA

AT-RA

Atragen

Atra-IV

Atralin

Avita (TN)

Avita Gel

A-Vitaminsyre

A-Vitaminsyre [Denmark]

Avitoin

Avitoin [Norway]

BAL4079

beta all trans Retinoic acid

beta all trans Retinoic Acid

beta-all-trans-Retinoic acid

beta-Ra

beta-Retinoate

beta-Retinoic acid

beta-Retinoic Acid

Betarretin

BIDD:GT0483

BIDD:PXR0081

BML2-E05

bmse000562

BPBio1_000082

b-Retinoate

b-Retinoic acid

BRN 2057223

BSPBio_000074

BSPBio_001500

C00777

CCRIS 3294

CCRIS 7098

CHEBI:15367

CHEMBL38

CID444795

Claravis

Cordes vas

Cordes VAS [Germany]

CPD000058245

D00094

D014212

DB00523

DB00755

DB00982

Dermairol

Effederm

Effederm [France]

EINECS 206-129-0

Epi-aberel

EU-0101061

Eudyna

HMS1361K22

HMS1568D16

HMS1791K22

HMS1921D14

HMS1989K22

HMS2089D20

HMS2092N11

HMS502N05

HSDB 2169

HSDB 7186

I04-0008

I14-2351

IDI1_000903

IDI1_033970

Isotretinoin Retinoic acid

L000833

LGD 100057

LMPR01090019

Lopac0_001061

LS-1154

Lsotretinoin

MLS000028588

MLS001076515

MLS002207234

MLS002222211

MolPort-000-883-857

NCGC00017280-06

NCGC00017280-17

NCGC00021808-04

NCGC00021808-05

NCGC00021808-06

NCGC00021808-07

NCGC00021808-09

NCGC00021808-14

NCGC00021808-15

nchembio.154-comp2

Nexret

NSC 122758

NSC122758

NSC-122758

Panretin Gel

Panretyn

PDT-002-002

Potassium salt, tretinoin

Potassium Salt, Tretinoin

Prestwick_424

Prestwick2_000257

Prestwick3_000257

R 2625

R0064

R2625_SIGMA

REA

Renova

Renova (TN)

Retacnyl

Retin a

Retin A

Retin A (TN)

Retin-a

Retin-A

Retin-A Micro

Retinoate

Retinoic acid

RETINOIC ACID, ALL TRANS

Retinoic acid, all-trans- (8CI)

Retinova

Retionic acid

Retionic Acid

Retisol-a

Retisol-A

ro 1-5488

Ro 1-5488

S1653_Selleck

Salt, tretinoin potassium

Salt, Tretinoin Potassium

Salt, tretinoin sodium

Salt, Tretinoin Sodium

Salt, tretinoin zinc

Salt, Tretinoin Zinc

SAM002264647

SMR000058245

Sodium salt, tretinoin

Sodium Salt, Tretinoin

Solage

Sotret

SPECTRUM1502016

Spectrum5_001746

Spectrum5_001933

SR-01000000239

SR-01000000239-14

ST057075

Stieva-a

Stieva-A

Stieva-a Forte

trans Retinoic acid

trans Retinoic Acid

trans-Retinoate

trans-Retinoic acid

Tretin m

Tretin M

tretinoin

Tretinoin

Tretinoin (JAN/USP/INN)

Tretinoin (TN)

Tretinoin [USAN:INN:BAN]

Tretinoin 0.1% cream or placebo

tretinoin liposome

Tretinoin potassium salt

Tretinoin Potassium Salt

Tretinoin sodium salt

Tretinoin Sodium Salt

Tretinoin zinc salt

Tretinoin Zinc Salt

Tretinoin/All-Trans Retinoic Acid

Tretinoina

Tretinoina [INN-Spanish]

Tretinoine

Trétinoïne

tretinoine (French) (EINECS)

Tretinoine [INN-French]

Tretinoino

Tretinoino [INN-Spanish]

Tretinoinum

Tretinoinum [INN-Latin]

TRETINON

Tri-Luma

UNII-1UA8E65KDZ

UNII-5688UTC01R

UPCMLD-DP097

Vesanoid

Vesanoid (TN)

Vesanoid, Airol, Renova, Atralin, Retin-A, Avita, Tretinoin

Vesnaroid

Vitamin a acid

Vitamin A acid

Vitinoin

WLN: L6UTJ A1 B1U1Y1 & U2U1Y1 & U1VQ C1 C1

WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U1VQ C1 C1

Zinc salt, tretinoin

Zinc Salt, Tretinoin

β-retinoate

β-retinoic acid

Triamcinolone diacetate

Phase 2

triamcinolone acetonide

Phase 2

Triamcinolone hexacetonide

Phase 2

Chlorhexidine

Approved, Vet_approved

55-56-1

9552079 2713

Synonyms:

1,1 inverted exclamation marka-Hexamethylenebis[5-(4-chlorophenyl)biguanide]

1,1'-Hexamethylene bis(5-(p-chlorophenyl)biguanide)

1,1'-Hexamethylene bis(5-(P-chlorophenyl)biguanide)

1,1'-Hexamethylenebis(5-(p-chlorophenyl)biguanide)

1,1'-Hexamethylenebis[5-(4-chlorophenyl)biguanide

1,6-Bis(5-(p-chlorophenyl)biguandino)hexane

1,6-Bis(p-chlorophenyldiguanido)hexane

1,6-Di(4'-chlorophenyldiguanido)hexane

1,6-Di(N-p-chlorophenyldiguanido)hexane

24798_FLUKA

282227_ALDRICH

348031_ALDRICH

4-12-00-01201 (Beilstein Handbook Reference)

55-56-1

AB00053427

AB1003159

AVAGARD

BPBio1_000272

BRN 2826432

BSPBio_000246

BSPBio_001977

C06902

C22H30Cl2N10

CAS-55-56-1

CCRIS 9230

CHEBI:3614

CHEMBL790

Chlorhexidin

Chlorhexidin [Czech]

chlorhexidine

Chlorhexidine

Chlorhexidine (INN)

Chlorhexidine [INN:BAN]

Chlorhexidine Base

Chlorhexidine gluconate

Chlorhexidinum

Chlorhexidinum [INN-Latin]

CID9552079

Cloresidina

Cloresidina [DCIT]

Clorhexidina

Clorhexidina [INN-Spanish]

D07668

DB00878

Decanoylacetaldehyde Sodium Sulfide

Dentisept [veterinary]

Dentisept [veterinary] (TN)

DivK1c_000761

EINECS 200-238-7

Fimeil

Hexadol

Hibiclens

Hibispray

Hibistat

HMS1568M08

HSDB 7196

I06-0621

I14-0050

IDI1_000761

KBio1_000761

KBio2_000717

KBio2_003285

KBio2_005853

KBio3_001197

KBioGR_000774

KBioSS_000717

Lisium (*Dihydrochloride*)

LS-43917

Merfen-incolore

Merfen-incolore (TN)

MK-412A

MLS001332387

MLS001332388

MLS002154209

MolPort-002-541-741

N,N'-Bis(4-chlorophenyl)-3,12-diimino-2,4,11,13-tetraazatetradeca- nediimidamide

N,N'-bis(4-chlorophenyl)-3,12-diimino-2,4,11,13-tetraazatetradecanediimidamide

N,N'-Bis(4-chlorophenyl)-3,12-diimino-2,4,11,13-tetraazatetradecanediimidamide

N,N''''-hexane-1,6-diylbis[N'-(4-chlorophenyl)(imidodicarbonimidic diamide)]

N',N'''''-hexane-1,6-diylbis[N-(4-chlorophenyl)(imidodicarbonimidic diamide)]

NCGC00016246-01

NCGC00091025-01

NCGC00091025-02

NINDS_000761

Nolvasan

Nolvasan (*Diacetate*)

Novalsan

NSC526936

Oro-Clense

Peridex

Periogard

Prestwick_53

Prestwick0_000143

Prestwick1_000143

Prestwick2_000143

Prestwick3_000143

QTL1_000020

Rotersept

Savloclens

Savlon babycare

Sebidin A

SMR000857146

Sodium Houttuyfonamide

Soretol

SPBio_000210

SPBio_002185

Spectrum_000237

Spectrum2_000135

Spectrum3_000339

Spectrum4_000277

Spectrum5_001322

Sterido

Sterilon

STK089248

STOCK1S-18831

Superspray

Tubulicid

UNII-R4KO0DY52L

Glycolic acid

Approved, Investigational

79-14-1

757

Synonyms:

2-Hydroxyacetate

2-Hydroxyacetic acid

2-Hydroxyethanoate

2-Hydroxyethanoic acid

a-Hydroxyacetate

a-Hydroxyacetic acid

alpha-Hydroxyacetate

alpha-Hydroxyacetic acid

Glycocide

Glycolate

Glycolic acid, 1-(14)C-labeled

Glycolic acid, 2-(14)C-labeled

Glycolic acid, calcium salt

Glycolic acid, monoammonium salt

Glycolic acid, monolithium salt

Glycolic acid, monopotassium salt

Glycolic acid, monosodium salt

Glycolic acid, potassium salt

Glycollate

Glycollic acid

GlyPure

GlyPure 70

HOCH2COOH

Hydroxyacetate

Hydroxyacetic acid

Hydroxyethanoate

Hydroxyethanoic acid

Sodium glycolate

α-hydroxyacetate

α-hydroxyacetic acid

Chlorhexidine gluconate

Protective Agents

Carotenoids

Antioxidants

Interventional clinical trials:

(show all 22)

#	Name	Status	NCT ID	Phase	Drugs
1	A Post-Market Study to Evaluate Adverse Event Incidence Rates in Patients With Skin of Color Undergoing Correction of Nasolabial Folds With Hylaform, Hylaform Plus and Captique.	Completed	NCT00293163	Phase 4
2	Bleomycin Infusion (MMP®) to Repigment Achromic Scars	Not yet recruiting	NCT04046679	Phase 4	Bleomycin
3	Evaluation of Pigmented Skin Lesions With MelaFind(R) System	Completed	NCT00434057	Phase 3
4	Pre-Treatment of Highly Suspicious Pigmented Skin Lesions With Interleukin-2	Recruiting	NCT03233828	Phase 3
5	Maintenance Treatment of Non Segmental Vitiligo With Tacrolimus Ointment 0.1% Versus Control, Randomized and Double Blind Study	Terminated	NCT01841008	Phase 2, Phase 3	Protopic;Placebo : Diprobase
6	Non-ablative 1,550 nm Fractional Laser Therapy Versus Triple Topical Therapy for the Treatment of Melasma: a Randomized Controlled Split-face Study	Completed	NCT01085279	Phase 2	Modified Kligman's formula (Triple topical therapy)
7	Ablative Fractional Laser Therapy as Treatment for Becker's Nevus; a Pilot Study	Completed	NCT01083498	Phase 2
8	Pilot Study to Determine the Feasibility and Functionality of fPAM Imaging for the in Vivo Depth Measurement of Pigmented Lesions and Melanoma Depth	Completed	NCT02613325	Phase 1
9	The Role of Dermoscopy in Diagnosis of Pigmentary Skin Lesions	Unknown status	NCT03542539
10	A Single-Center Open-Label Study of 1064 nm Nd:YAG for Nonablative Skin Rejuvenation	Unknown status	NCT03421691
11	A Proof of Concept Cases Series on the Use of the Epidermal Expansion System to Harvest and Place Suction Blister Epidermal Grafts on Hypopigmented Skin and Surgical Wounds	Unknown status	NCT01590329
12	Dermoscopy Evaluation of Pigmented Skin Lesions by a Neuronal Network Clinical Decision Support: an Open Prospective Non Interventional Study	Unknown status	NCT03362138
13	A Single-Center Prospective, Open-Label Study of the Excel V 532 nm KTP Laser for the Treatment of Poikiloderma of Civatte	Completed	NCT01491620
14	A Clinical Evaluation of a Novel Multi-Wavelength Laser for Benign Pigmented Lesion Removal	Completed	NCT02635880
15	A Pilot Study to Evaluate the Correlation Between Modified Two Layer Diffuse Optical Spectroscopy With the Clinical and Histological Examinations of Pigmented Skin Lesions Based on Physiological Parameters	Completed	NCT00633516
16	MelaFind Evaluations for Patients With Multiple Nevi	Completed	NCT01700101
17	Effectiveness, Safety, and Cost Efficacy of Water (H2O) as a Substitute for Sodium Bicarbonate (NaHCO3) Plus Solution in Neutralization of Chemical Peeling Using 35% Glycolic Acid Solution	Completed	NCT04154436
18	Evaluation of a New Dermal Cryotherapy System for the Treatment of Benign Pigmented Lesions	Recruiting	NCT02848742
19	A Prospective, Double-blind, Split-body, Randomized Controlled Trial to Assess the Efficacy of Low Level Laser Therapy for Pigmentary Disorders	Recruiting	NCT04308421
20	Macular Pigment Measurements in Eye & Other Tissues	Recruiting	NCT03022773
21	Evaluation of the Improvement of Pigmented Skin Lesions in Patients With Mastocytosis After Performing 2 Sessions of Pigment Laser : Pilot Study Conducted at a Reference Centre Mastocytoses (LaserMasto)	Not yet recruiting	NCT04377828
22	Non-invasive Imaging Modalities for Assessment of Normal and Lesional Skin	Withdrawn	NCT00764920

Search NIH Clinical Center for Hypomelanosis of Ito

Cochrane evidence based reviews: pigmentation disorders

Sources

Genetic Tests for Hypomelanosis of Ito

Sources

Anatomical Context for Hypomelanosis of Ito

MalaCards organs/tissues related to Hypomelanosis of Ito:

⁴⁰

Skin, Eye, Brain, Kidney, Small Intestine, Colon, Testes

Sources

Publications for Hypomelanosis of Ito

Articles related to Hypomelanosis of Ito:

(show top 50) (show all 325)

#	Title	Authors	PMID	Year
1	Familial hypomelanosis of ito: implications for genetic counselling. ⁵⁶ ⁶¹	Ruggieri M	11074501	2000
2	Incontinentia pigmenti versus hypomelanosis of Ito: the whys and wherefores of a confusing issue. ⁵⁶ ⁶¹	Happle R	9738871	1998
3	Arteriovenous malformation in hypomelanosis of Ito. ⁵⁶ ⁶¹	Urgelles E...Vega A	8907350	1996
4	Clinico-neuropathological study of incontinentia pigmenti achromians--an autopsy case. ⁵⁶ ⁶¹	Fujino O...Morimatsu Y	8747421	1995
5	Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene? ⁵⁶ ⁶¹	Pellegrino JE...Spinner NB	7557977	1995
6	Neurophysiologic dysfunction in hypomelanosis of Ito: EEG and evoked potential studies. ⁶¹ ⁵⁶	Ogino T...Ohtahara S	7892963	1994
7	Epidermal mosaicism and Blaschko's lines. ⁶¹ ⁵⁶	Moss C...Davison EV	8411070	1993
8	Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): further evidence of localization at Xp11. ⁶¹ ⁵⁶	Koiffmann CP...Wajntal A	8322815	1993
9	Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17). ⁶¹ ⁵⁶	Steichen-Gersdorf E...Utermann G	8444466	1993
10	Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians). ⁶¹ ⁵⁶	Vormittag W...Raff M	1623628	1992
11	Hypomelanosis of Ito. ⁶¹ ⁵⁶	Donnai D...Read AP	1347852	1992
12	Hypomelanosis of Ito associated with chromosomal translocation involving Xp11. ⁶¹ ⁵⁶	Lungarotti MS...Mariotti G	1746610	1991
13	Familial hypomelanosis of Ito. ⁵⁶ ⁶¹	Montagna P...Baruzzi A	1756756	1991
14	Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito. ⁵⁶ ⁶¹	Sybert VP...Bradley CM	2319405	1990
15	Hypomelanosis of Ito--a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism. ⁵⁶ ⁶¹	Chitayat D...Johnston MM	2309792	1990
16	Pigmentary dysplasias, hypomelanosis of Ito, and genetic mosaicism. ⁵⁶ ⁶¹	Flannery DB	2405667	1990
17	Chromosome mosaicism in hypomelanosis of Ito. ⁵⁶ ⁶¹	Ritter CL...Cohen BA	2301465	1990
18	Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. ⁶¹ ⁵⁶	Thomas IT...Graham JG	2667350	1989
19	Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. ⁶¹ ⁵⁶	Donnai D...Andrews T	3236362	1988
20	Genetic counselling in hypomelanosis of Ito: case report and review. ⁵⁶ ⁶¹	Moss C...Burn J	3056640	1988
21	Hypomelanosis of Ito. Neurological complications in 34 cases. ⁵⁶ ⁶¹	Pascual-Castroviejo I...Roche Herrero C	3383022	1988
22	Tentative assignment of hypomelanosis of Ito to 9q33----qter. ⁵⁶ ⁶¹	Happle R	3804339	1987
23	Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. ⁵⁶ ⁶¹	Turleau C...de Grouchy J	3464561	1986
24	Hypomelanosis of Ito. Case report with involvement of the central nervous system and review of the literature. ⁵⁶ ⁶¹	Rosemberg S...Alonso F	6709127	1984
25	Hamartomatous dental cusps in hypomelanosis of Ito. ⁶¹ ⁵⁶	Happle R...Vakilzadeh F	7067164	1982
26	Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome. ⁶¹ ⁵⁶	Schwartz MF...Rozenfeld IH	830915	1977
27	Dental dysplasia in incontinentia pigmenti achromians (Ito). An unusual form. ⁶¹ ⁵⁶	Browne RM...Byrne JP	1062218	1976
28	Hypomelanosis of Ito ("incontinentia pigmenti achromians"). Report of three cases and review of the literature. ⁶¹ ⁵⁶	Jelinek JE...Schiff SM	4633268	1973
29	Incontinentia pigmenti achromians. Multiple cases within a family. ⁵⁶ ⁶¹	Rubin MB	5012145	1972
30	[Incontinentia pigmenti achromians (ITO). Clinical and histopathological study]. ⁶¹ ⁵⁶	Grosshans EM...Stoll C	4995809	1971
31	Incontinentia pigmenti (type 1) and X;5 translocation. ⁵⁶	Bitoun P...Gilgenkrantz S	1610121	1992
32	Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints. ⁵⁶	Gorski JL...Reyner EL	1985463	1991
33	Of mice, persons, and pigment. ⁵⁶	Hall BD	2757027	1989
34	Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases. ⁵⁶	Crolla JA...Bobrow M	2921037	1989
35	Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations. ⁵⁶	Sefiani A...Hors-Cayla MC	2817774	1989
36	Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation. ⁵⁶	Cannizzaro LA...Hecht F	3621656	1987
37	Translocation (X;13)(p11.21;q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma. ⁵⁶	Kajii T...Kuroki Y	3879432	1985
38	Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region. ⁵⁶	de Grouchy J...Thibaud D	3876068	1985
39	Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11? ⁵⁶	Gilgenkrantz S...Weber M	3876069	1985
40	Two cases of X/autosome translocation in females with incontinentia pigmenti. ⁵⁶	Hodgson SV...Bobrow M	4065895	1985
41	The lines of Blaschko: a review and reconsideration: Observations of the cause of certain unusual linear conditions of the skin. ⁵⁶	Jackson R	788770	1976
42	Palmoplantar depigmentation in Macaca fascicularis following Blaschko linear pattern. ⁶¹	Bouzon AC...Goldschmidt B	31657466	2020
43	A case of hypomelanosis of Ito accompanied by unilateral abnormal limb overgrowth and delayed speech. ⁶¹	Ozcetin M...Aksoy B	32232208	2020
44	Nevus depigmentosus: review of a mark of distinction. ⁶¹	Ullah F...Schwartz RA	30801693	2019
45	The color of skin: gray diseases of the skin, nails, and mucosa. ⁶¹	Abdel-Naser MB	31896405	2019
46	An Interesting Coexistence of Multifocal Hypertrichosis and Hirsutism in Hypomelanosis of Ito. ⁶¹	Mendiratta V...Chander R	31149581	2019
47	Hypomelanosis of Ito: streaks and whorls. ⁶¹	Khera D...Gupta P	31015238	2019
48	Manifestations of hypomelanosis of Ito. ⁶¹	Albuja AC...Khan GQ	29681459	2018
49	Hypomelanosis of Ito with gynaecomastia and dental anomaly. ⁶¹	Gupta M...Gupta A	29982187	2018
50	Possible Correlation between Hypomelanosis of Ito and Wilms' Tumor. ⁶¹	Bello-Germino D...Vasylyeva TL	30123603	2018

Sources

Genes for Hypomelanosis of Ito

Genes related to Hypomelanosis of Ito (0 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TYR	Tyrosinase	Protein Coding	12.54	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	11780467 10713140
2	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	11.69	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	9546825
3	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	11.37	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	9.84	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	10051325 12966161
5	PLOD1	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1	Protein Coding	6.97	GeneCards inferred via : Publications (show sections)
6	GNAQ	G Protein Subunit Alpha Q	Protein Coding	5.89	DISEASES inferred ¹⁵
7	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	5.65	DISEASES inferred ¹⁵
8	ARFGEF2	ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2	Protein Coding	5.56	DISEASES inferred ¹⁵
9	STK40	Serine/Threonine Kinase 40	Protein Coding	5.51	DISEASES inferred ¹⁵
10	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	5.42	DISEASES inferred ¹⁵
11	DEPDC5	DEP Domain Containing 5, GATOR1 Subcomplex Subunit	Protein Coding	5.35	DISEASES inferred ¹⁵
12	GNA11	G Protein Subunit Alpha 11	Protein Coding	5.35	DISEASES inferred ¹⁵
13	LRRC7	Leucine Rich Repeat Containing 7	Protein Coding	5.34	DISEASES inferred ¹⁵
14	TUBA1A	Tubulin Alpha 1a	Protein Coding	5.2	DISEASES inferred ¹⁵
15	N4BP3	NEDD4 Binding Protein 3	Protein Coding	5.17	DISEASES inferred ¹⁵

Sources

Variations for Hypomelanosis of Ito

Sources

Expression for Hypomelanosis of Ito

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

Sources

Pathways for Hypomelanosis of Ito

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

#	Super pathways	Score	Top Affiliating Genes
1	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.49	KIT GNAQ GNA11 AKT3
2	Aldosterone synthesis and secretion ³⁶ Show member pathways Ca2+ activated K+ channels ⁶⁵ Cortisol synthesis and secretion ³⁶ Cushing syndrome ³⁶ Insulin secretion ³⁶ Melanogenesis ³⁶ Thyroid hormone synthesis ³⁶	12.32	TYR MITF KIT GNAQ GNA11
3	Pathways in cancer ³⁶	12.08	MITF KIT GNAQ GNA11 AKT3
4	Development A2A receptor signaling ²² Show member pathways Development A2B receptor- action via G-protein alpha s ²²	11.67	GNAQ GNA11 AKT3
5	S1P3 pathway ¹ Show member pathways S1P1 pathway ¹ S1P2 pathway ¹ S1P4 pathway ¹ S1P5 pathway ¹ Sphingosine 1-phosphate (S1P) pathway ¹	11.56	GNAQ GNA11 AKT3
6	Gap junction ³⁶	11.38	TUBA1A GNAQ GNA11
7	GnRH secretion ³⁶	10.61	GNAQ GNA11 AKT3
8	Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion ⁶⁵ Show member pathways Free fatty acids regulate insulin secretion ⁶⁵	10.57	GNAQ GNA11

Sources

GO Terms for Hypomelanosis of Ito

Cellular components related to Hypomelanosis of Ito according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	synapse	GO:0045202	9.02	PAFAH1B1 LRRC7 GNAQ GNA11 ARFGEF2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	intracellular signal transduction	GO:0035556	9.78	KIT DEPDC5 ARFGEF2 AKT3
2	brain morphogenesis	GO:0048854	9.46	PAFAH1B1 AKT3
3	melanocyte differentiation	GO:0030318	9.43	MITF KIT
4	action potential	GO:0001508	9.4	GNAQ GNA11
5	G protein-coupled acetylcholine receptor signaling pathway	GO:0007213	9.37	GNAQ GNA11
6	phospholipase C-activating dopamine receptor signaling pathway	GO:0060158	9.32	GNAQ GNA11
7	developmental pigmentation	GO:0048066	9.26	KIT GNA11
8	phototransduction, visible light	GO:0007603	9.16	GNAQ GNA11
9	entrainment of circadian clock	GO:0009649	8.96	GNAQ GNA11
10	pigmentation	GO:0043473	8.8	TYR MITF KIT

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	10	TYR TUBA1A STK40 PLOD1 PAFAH1B1 N4BP3
2	G-protein beta/gamma-subunit complex binding	GO:0031683	9.26	GNAQ GNA11
3	guanyl nucleotide binding	GO:0019001	8.96	GNAQ GNA11
4	type 2A serotonin receptor binding	GO:0031826	8.62	GNAQ GNA11

Sources

Sources for Hypomelanosis of Ito

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Hypomelanosis of Ito (HMI)

Aliases & Classifications for Hypomelanosis of Ito

MalaCards integrated aliases for Hypomelanosis of Ito:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hypomelanosis of Ito

Related Diseases for Hypomelanosis of Ito

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

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

Symptoms & Phenotypes for Hypomelanosis of Ito

Human phenotypes related to Hypomelanosis of Ito:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Hypomelanosis of Ito:

MGI Mouse Phenotypes related to Hypomelanosis of Ito:

Drugs & Therapeutics for Hypomelanosis of Ito

Drugs for Hypomelanosis of Ito (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

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:

Publications for Hypomelanosis of Ito

Articles related to Hypomelanosis of Ito:

Genes for Hypomelanosis of Ito

Genes related to Hypomelanosis of Ito (0 elite genes):

Variations for Hypomelanosis of Ito

Expression for Hypomelanosis of Ito

Pathways for Hypomelanosis of Ito

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

GO Terms for Hypomelanosis of Ito

Cellular components related to Hypomelanosis of Ito according to GeneCards Suite gene sharing:

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

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

Sources for Hypomelanosis of Ito