Albinism, Cutaneous

Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.

Synonym
Albinism, Partial
Piebaldism
Piebald Trait
Albinism, Cutaneous

Excerpt	Reference
"Piebaldism is an autosomal dominant genetic disorder characterized by cogenital patches of skin and hair from which melanocytes are completely absent."	( Giebel, LB; Spritz, RA, 1991)
"Piebaldism is an autosomal dominant genetic pigmentary disorder, characterized by congenital white hair and patches located on the forehead, anterior trunk, and extremities."	( Aoki, H; Kitajima, Y; Kunisada, T; Motohashi, T; Tosaki, H; Yoshida, H, 2006)
"Piebaldism is characterised by the absence of pigment in patches on the skin, usually present at birth."	( Rokos, H; Salem, MM; Schallreuter, KU; Vafaee, T, 2010)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	3 (13.64)	23.3326
1990's	4 (18.18)	12.5806
2000's	6 (27.27)	18.1394
2010's	6 (27.27)	28.8240
2020's	3 (13.64)	9.53

Drug	Relationship Strength	Studies
salicylic acid	low	1
dihydroxyacetone	low	1
glycine	low	1
pteridines	low	1
busulfan	low	1
2-propanol	low	1
methionine	low	1
arginine	low	1
vidarabine	low	2
zinc sulfate	low	1
tetradecanoylphorbol acetate	low	1
fomesafen	low	1
mycophenolic acid	low	1
fludarabine	low	1
iridal	low	2
mart-1 antigen	low	1
methionine sulfoxide	low	1
oligonucleotides	low	2
endothelin-1	low	1
cyclosporine	low	1
guanosine triphosphate	low	1

Protein Targets (364)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
hypoxia-inducible factor 1 alpha subunit	3	0	0	3
RAR-related orphan receptor gamma	3	0	0	3
GLI family zinc finger 3	3	0	0	3
AR protein	7	0	0	7
aldehyde dehydrogenase 1 family, member A1	6	0	0	6
retinoic acid nuclear receptor alpha variant 1	4	0	0	4
retinoid X nuclear receptor alpha	6	0	0	6
estrogen nuclear receptor alpha	8	0	0	8
peroxisome proliferator-activated receptor delta	5	0	0	5
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	4	0	0	4
activating transcription factor 6	3	0	0	3
v-jun sarcoma virus 17 oncogene homolog (avian)	3	0	0	3
Histone H2A.x	5	0	0	5
thyroid hormone receptor beta isoform a	1	0	0	1
heat shock protein beta-1	2	0	0	2
nuclear factor erythroid 2-related factor 2 isoform 1	9	0	0	9
lamin isoform A-delta10	6	0	0	6
Voltage-dependent calcium channel gamma-2 subunit	4	0	0	4
Glutamate receptor 2	4	1	0	5
Chain A, HADH2 protein	4	0	0	4
Chain B, HADH2 protein	4	0	0	4
Chain A, Cruzipain	1	0	0	1
interleukin 8	1	0	0	1
phosphopantetheinyl transferase	4	0	0	4
GLS protein	2	0	0	2
glucocorticoid receptor [Homo sapiens]	5	0	0	5
farnesoid X nuclear receptor	3	0	0	3
vitamin D (1,25- dihydroxyvitamin D3) receptor	6	0	0	6
tumor necrosis factor	1	0	0	1
vitamin D3 receptor isoform VDRA	3	0	0	3
peripheral myelin protein 22	3	0	0	3
Cytochrome P450 1A2	0	1	0	1
Cytochrome P450 3A4	0	2	0	3
Cytochrome P450 2D6	0	1	0	1
Cytochrome P450 2C9	0	2	0	2
Cytochrome P450 2C19	0	1	0	1
Nuclear receptor ROR-gamma	2	0	0	2
Potassium voltage-gated channel subfamily H member 2	0	1	0	1
Aurora kinase B	0	1	0	1
Broad substrate specificity ATP-binding cassette transporter ABCG2	0	1	0	2
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	3	0	0	3
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
thioredoxin reductase	4	0	0	4
NFKB1 protein, partial	1	0	0	1
thyroid stimulating hormone receptor	2	0	0	2
alpha-galactosidase	2	0	0	2
euchromatic histone-lysine N-methyltransferase 2	3	0	0	3
cytochrome P450 2C19 precursor	1	0	0	1
chromobox protein homolog 1	4	0	0	4
flap endonuclease 1	2	0	0	2
DNA polymerase iota isoform a (long)	3	0	0	3
muscarinic acetylcholine receptor M1	1	0	0	1
lethal factor (plasmid)	3	0	0	3
Nitric oxide synthase, endothelial	0	0	0	2
Nitric oxide synthase, brain	0	0	0	1
Nitric oxide synthase, brain	0	0	0	1
Nitric oxide synthase, inducible	0	0	0	1
Nitric oxide synthase, inducible	0	0	1	3
Cationic amino acid transporter 3	0	1	0	1
ATP-dependent phosphofructokinase	2	0	0	2
Chain A, JmjC domain-containing histone demethylation protein 3A	1	0	0	1
Chain A, 2-oxoglutarate Oxygenase	4	0	0	4
15-lipoxygenase, partial	2	0	0	2
TDP1 protein	8	0	0	8
apical membrane antigen 1, AMA1	1	0	0	1
cytochrome P450 family 3 subfamily A polypeptide 4	1	0	0	1
EWS/FLI fusion protein	4	0	0	4
estrogen-related nuclear receptor alpha	6	0	0	6
pregnane X nuclear receptor	4	0	0	4
aryl hydrocarbon receptor	2	0	0	2
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a	3	0	0	3
thyroid hormone receptor beta isoform 2	6	0	0	6
ubiquitin carboxyl-terminal hydrolase 2 isoform a	1	0	0	1
geminin	7	0	0	7
ATP-binding cassette sub-family C member 3	0	3	0	3
Multidrug resistance-associated protein 4	0	3	0	4
Bile salt export pump	0	4	0	4
Matrix metalloproteinase-9	0	1	0	1
Disintegrin and metalloproteinase domain-containing protein 17	1	0	0	1
Canalicular multispecific organic anion transporter 1	0	4	0	5
Endothelin-1 receptor	0	1	0	1
glp-1 receptor, partial	2	0	0	2
SMAD family member 2	2	0	0	2
SMAD family member 3	2	0	0	2
caspase 7, apoptosis-related cysteine protease	1	0	0	1
nuclear receptor subfamily 1, group I, member 3	5	0	0	5
progesterone receptor	5	0	0	5
67.9K protein	6	0	0	6
peroxisome proliferator activated receptor gamma	4	0	0	4
caspase-3	1	0	0	1
LMP1 [Human herpesvirus 4]	0	0	0	1
thyroid stimulating hormone receptor	1	0	0	1
nuclear factor erythroid 2-related factor 2 isoform 2	5	0	0	5
nuclear receptor coactivator 1 isoform 1 [Homo sapiens]	0	2	0	2
urokinase-type plasminogen activator precursor	4	0	0	4
plasminogen precursor	4	0	0	4
urokinase plasminogen activator surface receptor precursor	4	0	0	4
transactivating tegument protein VP16 [Human herpesvirus 1]	0	2	0	2
nuclear receptor coactivator 3 isoform a	0	2	0	2
Prothrombin	0	0	0	1
Regulatory protein E2	0	0	1	1
Cellular tumor antigen p53	5	0	0	5
ATP-dependent translocase ABCB1	0	1	0	1
ATP-dependent translocase ABCB1	0	2	0	3
DNA topoisomerase 1	0	1	0	2
DNA topoisomerase 2-alpha	0	1	1	7
Polyunsaturated fatty acid lipoxygenase ALOX15	0	1	0	1
DNA topoisomerase 2	0	0	0	1
ATP-dependent translocase ABCB1	0	1	0	1
UDP-glucuronosyltransferase 1A1	0	0	0	2
Serum paraoxonase/arylesterase 1	0	1	0	1
Glutamate receptor ionotropic, NMDA 1	0	2	1	4
Caspase-3	0	1	0	1
Glutamate receptor ionotropic, NMDA 2A	0	2	1	4
Glutamate receptor ionotropic, NMDA 2B	0	2	1	4
Glutamate receptor ionotropic, NMDA 2C	0	2	1	4
DNA topoisomerase 2-alpha	0	0	0	1
DNA topoisomerase 2-beta	0	1	1	8
Glutamate receptor ionotropic, NMDA 2D	0	2	1	4
Tubulin beta-2B chain	0	1	0	1
Integrase	0	1	0	1
Similar to alpha-tubulin isoform 1	0	1	0	1
Similar to alpha-tubulin isoform 1	0	1	0	1
Glutamate receptor ionotropic, NMDA 3B	0	2	1	4
ATPase family AAA domain-containing protein 5	3	0	0	3
Ataxin-2	3	0	0	3
Solute carrier organic anion transporter family member 1B3	0	2	0	3
Glutamate receptor ionotropic, NMDA 3A	0	2	1	4
Chain A, Beta-lactamase	1	0	0	1
Fumarate hydratase	1	0	0	1
Smad3	1	0	0	1
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	2	0	0	2
corticotropin-releasing hormone receptor 2	0	1	1	2
polyprotein	1	0	0	1
corticotropin releasing factor-binding protein	0	1	1	2
IDH1	2	0	0	2
glycogen synthase kinase-3 beta isoform 1	0	0	2	2
5'-nucleotidase	0	1	0	1
Adenosine receptor A3	0	1	0	1
Adenosine deaminase	0	0	0	2
Luciferase	1	0	0	1
Glycine receptor subunit alpha-1	0	0	1	1
Sodium- and chloride-dependent GABA transporter 2	0	1	0	1
Sodium- and chloride-dependent GABA transporter 3	0	1	0	1
Sodium- and chloride-dependent glycine transporter 1	0	1	0	1
Large neutral amino acids transporter small subunit 1	0	2	0	2
Proton-coupled amino acid transporter 1	0	1	0	1
Serine racemase	0	1	0	1
Olfactory receptor 51E2	0	0	1	1
Sodium- and chloride-dependent glycine transporter 2	0	1	0	1
Chain A, Uracil Phosphoribosyltransferase	0	0	1	1
Chain B, Uracil Phosphoribosyltransferase	0	0	1	1
Chain C, Uracil Phosphoribosyltransferase	0	0	1	1
2-dehydropantoate 2-reductase	0	0	1	1
Ras-related protein Rab-7a	0	0	1	1
4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9	0	2	0	2
HLA class I histocompatibility antigen, A alpha chain	0	1	0	1
5-hydroxytryptamine receptor 2C	0	2	0	3
5-hydroxytryptamine receptor 2A	0	2	0	2
5-hydroxytryptamine receptor 2B	0	1	0	1
Gastrin/cholecystokinin type B receptor	0	1	0	1
Chain A, Methionyl-tRNA synthetase	0	0	1	1
Chain A, Methionyl-tRNA synthetase	0	0	1	1
Chain A, Aminopeptidase	0	1	0	1
Chain A, Methionine aminopeptidase	0	1	0	1
S-ribosylhomocysteine lyase	0	1	0	1
Adenylate cyclase type 5	0	0	0	1
S-adenosylmethionine synthase isoform type-1	0	0	0	1
S-adenosylmethionine synthase isoform type-2	0	0	0	1
Fatty acid synthase	0	1	0	1
Chain B, DIHYDROFOLATE REDUCTASE	0	0	1	1
Chain B, DIHYDROFOLATE REDUCTASE	0	0	1	1
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	3	0	0	3
Chain B, DIHYDROFOLATE REDUCTASE	0	0	1	1
Chain A, Ferritin light chain	1	0	0	1
acid sphingomyelinase	1	0	0	1
dopamine D1 receptor	1	0	0	1
ClpP	1	0	0	1
ATAD5 protein, partial	1	0	0	1
USP1 protein, partial	1	0	0	1
Microtubule-associated protein tau	2	0	0	2
estrogen receptor 2 (ER beta)	3	0	0	3
Thymidylate synthase	0	1	0	1
Thymidylate synthase	0	1	0	1
Bloom syndrome protein isoform 1	1	0	0	1
cellular tumor antigen p53 isoform a	1	0	0	1
polyunsaturated fatty acid lipoxygenase ALOX12	1	0	0	1
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 1	3	0	0	3
transcriptional regulator ERG isoform 3	1	0	0	1
importin subunit beta-1 isoform 1	1	0	0	1
DNA polymerase beta	1	0	0	1
snurportin-1	1	0	0	1
peptidyl-prolyl cis-trans isomerase NIMA-interacting 1	1	0	0	1
DNA polymerase eta isoform 1	1	0	0	1
DNA polymerase kappa isoform 1	2	0	0	2
survival motor neuron protein isoform d	3	0	0	3
M-phase phosphoprotein 8	1	0	0	1
muscleblind-like protein 1 isoform 1	1	0	0	1
histone acetyltransferase KAT2A isoform 1	2	0	0	2
caspase-1 isoform alpha precursor	1	0	0	1
Toll-like receptor 4	0	1	0	1
Fatty-acid amide hydrolase 1	0	1	0	1
Bile salt export pump	0	2	0	2
ATP-binding cassette sub-family C member 3	0	1	0	2
Dihydrofolate reductase	0	2	0	3
Dihydrofolate reductase	0	2	0	3
Dihydrofolate reductase	0	1	0	1
Dihydrofolate reductase	0	1	0	1
Dihydrofolate reductase	0	1	0	1
Dihydrofolate reductase	0	2	0	3
Thymidylate synthase	0	1	0	1
Tyrosine-protein kinase ABL1	0	0	1	1
Carbonic anhydrase 2	0	2	1	3
Thymidylate synthase	0	2	0	2
Integrin beta-3	1	0	0	1
Bifunctional dihydrofolate reductase-thymidylate synthase	0	1	0	1
Thymidylate synthase	0	2	0	2
Integrin alpha-IIb	1	0	0	1
High mobility group protein B1	0	0	2	2
Dihydrofolate reductase	0	1	0	1
Thymidylate synthase	0	1	0	1
Dihydrofolate reductase	0	2	2	4
Glucose-6-phosphate 1-dehydrogenase	0	1	0	1
Bifunctional dihydrofolate reductase-thymidylate synthase	0	1	0	1
Folate receptor beta	0	1	0	1
Cytochrome P450 11B1, mitochondrial	0	1	0	1
Folate receptor alpha	0	1	0	1
Dihydrofolate reductase	0	2	0	2
Histidine decarboxylase	0	1	0	1
Trifunctional purine biosynthetic protein adenosine-3	0	1	0	1
Cyclin-dependent kinase 2	0	0	1	1
Bifunctional purine biosynthesis protein ATIC	0	2	0	2
Multidrug resistance-associated protein 1	0	0	0	1
Delta-type opioid receptor	0	1	0	1
Mu-type opioid receptor	0	1	0	1
Kappa-type opioid receptor	0	1	0	1
Reduced folate transporter	0	2	0	2
Folylpolyglutamate synthase, mitochondrial	0	1	0	3
6-phosphogluconate dehydrogenase, decarboxylating	0	1	0	1
Caspase-7	1	0	0	1
Spike glycoprotein	1	0	0	1
Solute carrier organic anion transporter family member 1A3	0	0	0	1
Dihydrofolate reductase	0	1	0	1
Pteridine reductase 1	0	1	0	1
Folylpolyglutamate synthase, mitochondrial	0	1	0	3
Bifunctional dihydrofolate reductase-thymidylate synthase	0	1	0	1
TAR DNA-binding protein 43	2	0	0	2
Bifunctional dihydrofolate reductase-thymidylate synthase	0	1	0	1
Solute carrier family 22 member 6	0	1	0	2
Canalicular multispecific organic anion transporter 1	0	1	0	2
Trifunctional purine biosynthetic protein adenosine-3	0	1	0	1
Solute carrier family 22 member 20	0	2	0	2
Dihydrofolate reductase	0	1	0	1
Solute carrier family 22 member 8	0	1	0	2
Solute carrier family 22 member 6	0	2	0	2
Dihydrofolate reductase	0	1	0	1
ATP-binding cassette sub-family C member 11	0	0	0	1
Proton-coupled folate transporter	0	1	0	1
Multidrug resistance associated protein	0	1	0	2
Solute carrier family 22 member 11	0	0	0	1
Protein-arginine deiminase type-4	0	1	0	1
Chain A, Inosine-5'-Monophosphate Dehydrogenase 2	0	1	0	1
acetylcholinesterase	1	0	0	1
cytochrome P450 3A4 isoform 1	1	0	0	1
Gamma-aminobutyric acid receptor subunit pi	1	0	0	1
UDP-glucuronosyltransferase 1A9	0	0	0	1
Inosine-5'-monophosphate dehydrogenase 2	0	2	0	2
Gamma-aminobutyric acid receptor subunit beta-1	1	0	0	1
Gamma-aminobutyric acid receptor subunit delta	1	0	0	1
Gamma-aminobutyric acid receptor subunit gamma-2	1	0	0	1
Glutamate receptor 1	0	1	0	1
Glutamate receptor 3	0	1	0	1
Glutamate receptor 4	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-5	1	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-3	1	0	0	1
Inosine-5'-monophosphate dehydrogenase 1	0	2	0	2
Gamma-aminobutyric acid receptor subunit gamma-1	1	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-2	1	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-4	1	0	0	1
Gamma-aminobutyric acid receptor subunit gamma-3	1	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-6	1	0	0	1
Sodium-dependent serotonin transporter	0	1	0	1
Peroxisome proliferator-activated receptor gamma	0	0	1	1
Alpha-synuclein	1	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-1	1	0	0	1
Gamma-aminobutyric acid receptor subunit beta-3	1	0	0	1
Gamma-aminobutyric acid receptor subunit beta-2	1	0	0	1
Inosine-5'-monophosphate dehydrogenase	0	1	0	2
GABA theta subunit	1	0	0	1
Gamma-aminobutyric acid receptor subunit epsilon	1	0	0	1
UDP-glucuronosyltransferase 1A7	0	0	0	1
UDP-glucuronosyltransferase 1A10	0	0	0	1
UDP-glucuronosyltransferase 1A8	0	0	0	1
pregnane X receptor	1	0	0	1
thioredoxin glutathione reductase	1	0	0	1
nuclear receptor ROR-gamma isoform 1	2	0	0	2
Glucocorticoid receptor	0	2	1	3
Glycine receptor subunit alpha-1	0	2	0	2
Glycine receptor subunit beta	0	2	0	2
Glycine receptor subunit alpha-2	0	2	0	2
Glycine receptor subunit alpha-3	0	2	0	2
chaperonin-containing TCP-1 beta subunit homolog	1	0	0	1
Estrogen receptor beta	0	0	0	1
Inhibitor of nuclear factor kappa-B kinase subunit beta	0	0	0	1
Solute carrier family 22 member 6	0	1	0	1
Polyphenol oxidase 2	0	1	0	2
Carbonic anhydrase 12	0	1	0	1
5'-AMP-activated protein kinase subunit beta-2	0	0	0	1
Carbonic anhydrase 1	0	2	0	2
Albumin	0	1	0	1
Polymerase acidic protein	0	0	1	1
Carbonic anhydrase 3	0	1	0	1
Stromelysin-1	0	0	1	1
Tyrosine-protein phosphatase YopH	0	1	0	1
Aldo-keto reductase family 1 member B1	0	1	0	1
Prolyl 4-hydroxylase subunit alpha-1	0	1	0	1
Tyrosine-protein phosphatase non-receptor type 1	0	1	0	3
Estrogen receptor	0	0	0	1
Acetylcholinesterase	0	1	0	1
Carbonic anhydrase 4	0	1	0	1
Prostaglandin G/H synthase 1	0	1	0	1
Carbonic anhydrase 6	0	1	0	1
Cystathionine gamma-lyase	0	1	0	1
Carbonic anhydrase 5A, mitochondrial	0	1	0	1
Prostaglandin G/H synthase 2	0	1	0	1
Carbonic anhydrase 7	0	1	0	1
5'-AMP-activated protein kinase subunit gamma-1	0	0	0	1
5'-AMP-activated protein kinase catalytic subunit alpha-2	0	0	0	1
Xanthine dehydrogenase/oxidase	0	1	0	1
5'-AMP-activated protein kinase catalytic subunit alpha-1	0	0	0	1
Carbonic anhydrase 9	0	1	0	1
Carbonic anhydrase	0	1	0	1
Solute carrier family 22 member 7	0	0	0	1
Nicotinate phosphoribosyltransferase	0	1	0	1
Ubiquitin-like domain-containing CTD phosphatase 1	0	1	0	1
Carbonic anhydrase 15	0	1	0	1
Carbonic anhydrase 13	0	1	0	1
5'-AMP-activated protein kinase subunit gamma-3	0	0	0	1
5'-AMP-activated protein kinase subunit gamma-2	0	0	0	1
Carbonic anhydrase 14	0	1	0	1
Carbonic anhydrase 5B, mitochondrial	0	1	0	1
5'-AMP-activated protein kinase subunit beta-1	0	0	0	1
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	1	0	0	1
Serine/threonine-protein kinase D3	0	0	1	1
Protein kinase C gamma type	0	1	1	2
Protein kinase C beta type	0	1	1	2
Luciferin 4-monooxygenase	0	0	1	1
Protein kinase C alpha type	0	1	1	2
Beta-1 adrenergic receptor	0	1	0	1
Protein kinase C eta type	0	0	1	1
Protein kinase C iota type	0	0	1	1
Protein kinase C epsilon type	0	1	1	2
Protein kinase C theta type	0	0	1	1
Protein kinase C zeta type	0	0	1	1
Protein kinase C delta type	0	1	1	2
Serine/threonine-protein kinase D1	0	0	1	1
Ras guanyl-releasing protein 3	0	0	1	1
Thymidine kinase, cytosolic	0	0	0	1
Dipeptidyl peptidase 4	0	1	0	1
Histamine H1 receptor	0	0	1	1
Adenosylhomocysteinase	0	1	0	1
RNA-directed RNA polymerase	0	1	1	2
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Synonyms(4)

Research Excerpts

Overview

Research

Studies (22)

Protein Targets (364)

Albinism, Cutaneous

Synonyms(4)

Research Excerpts

Overview

Research

Studies (22)

Drugs Studied (24)

Protein Targets (364)