PBT
MCID: PBL001
MIFTS: 65

Piebaldism (PBT) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases categories

Summaries for Piebaldism

About this section
Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 Piebaldism is a rare inherited condition characterized by a white forelock (a patch of white hair directly above the forehead). the name piebaldism is derived from the words “pie” (from magpie, which is a black and white bird) and “bald” (from the bald eagle, the us national bird that has a white feathered head). other features include a white patch on the central portion of the forehead; white eyebrow and eyelash hair; and white patches of skin on the face (particularly the chin), trunk and extremities (hands and feet are not usually affected). this condition is present at birth and usually remains unchanged throughout life. it is inherited in an autosomal dominant fashion and is caused by mutations in the kit gene. last updated: 4/4/2011

MalaCards: Piebaldism, also known as partial albinism, is related to neurofibromatosis and vitiligo, and has symptoms including anomalies of mouth, lip and philtrum, long philtrum and hearing loss/hypoacusia/deafness. An important gene associated with Piebaldism is KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog), and among its related pathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer and Cardiac Progenitor Differentiation. The compounds pkc 412 and monochloroacetic acid have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related mouse phenotypes are tumorigenesis and digestive/alimentary.

Genetics Home Reference:22 Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 percent of affected individuals have a white section of hair near their front hairline (a white forelock). The eyelashes, the eyebrows, and the skin under the forelock may also be unpigmented.

Wikipedia:66 Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common characteristics... more...

Description from OMIM:48 172800

Aliases & Classifications for Piebaldism

About this section
Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 23GTR, 36MeSH, 59SNOMED-CT, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

50
piebaldism:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

piebaldism 9 10 44 22 48 11 46 50 63
partial albinism 9 23
piebald trait 9 22
pbt 44 22
albinoidism, oculocutaneous, autosomal dominant 63


External Ids:

Disease Ontology9 DOID:3263
MeSH36 D016116
NCIt41 C85009
OMIM48 172800
SNOMED-CT59 6479008
MESH via Orphanet37 D016116
ICD10 via Orphanet27 E70.3
SNOMED-CT via Orphanet60 6479008
UMLS via Orphanet64 C0080024

Related Diseases for Piebaldism

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases related to Piebaldism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis30.6SPRED1, PDGFRA
2vitiligo30.5MITF, KITLG
3hirschsprung's disease30.0PAX3, MITF
4waardenburg's syndrome30.0PAX3, MITF, SNAI2
5mastocytosis29.9MITF, PDGFRA, KIT, KITLG
6griscelli syndrome10.4
7megacolon10.2
8telfer sugar jaeger syndrome10.2
9piebald trait, kit-related10.2
10mental retardation10.2
11griscelli syndrome type 110.2
12griscelli syndrome type 210.2
13uterine carcinosarcoma10.1KIT
14piebald trait, snai2-related10.1
15myelofibrosis10.1PDGFRA
16mesenchymal cell neoplasm10.1KIT, PDGFRA
17carney triad10.1PDGFRA, KIT
18desmoid tumor10.1PDGFRA, KIT
19urticaria pigmentosa10.1KIT, KITLG
20endometrial stromal sarcoma10.1KIT, PDGFRA
21neural tube defects10.1PDGFRA, PAX3
22mast-cell leukemia10.1KITLG, KIT
23hypereosinophilic syndrome10.1KIT, PDGFRA
24pigmentation disease10.1KIT, MITF
25dysgerminoma10.1KITLG, KIT
26mast cell neoplasm10.1KIT, KITLG
27refractory anemia10.1KIT, KITLG
28malignant peripheral nerve sheath tumor10.1KIT, PDGFRA
29clear cell sarcoma10.1MITF, KIT
30hemorrhagic thrombocythemia10.1KIT, KITLG
31angiomyolipoma10.1MITF, KIT
32leukemia, acute lymphoblastic 310.0KIT, KITLG
33albinism immunodeficiency10.0
34leiomyosarcoma10.0KIT, PDGFRA
35systemic mastocytosis10.0PDGFRA, KIT, KITLG
36chronic myelomonocytic leukemia10.0KITLG, KIT, PDGFRA
37spina bifida10.0PDGFRA, PAX3
38polycythemia vera10.0PDGFRA, KIT, KITLG
39gastrointestinal stromal tumor10.0PDGFRA, KIT, KITLG
40seminoma10.0PDGFRA, KIT, KITLG
41myeloproliferative disorder10.0PDGFRA, KIT, KITLG
42microphthalmia10.0PAX3, MITF, KIT
43embryonal cancer10.0PDGFRA, KIT, KITLG
44myelodysplastic syndromes10.0KITLG, KIT, PDGFRA
45neurilemmoma10.0KIT, PDGFRA, MITF
46chronic myeloid leukemia10.0KITLG, KIT, PDGFRA
47lung small cell carcinoma10.0KITLG, KIT, PDGFRA
48sensorineural hearing loss10.0MITF, PAX3
49peripheral primitive neuroectodermal tumor10.0KITLG, KIT, PDGFRA, PAX3
50sarcoma10.0KITLG, KIT, PDGFRA, PAX3

Graphical network of the top 20 diseases related to Piebaldism:



Diseases related to piebaldism

Symptoms for Piebaldism

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

172800

Clinical features from OMIM:

172800

Symptoms:

50 (show all 20)
  • anomalies of mouth, lip and philtrum
  • long philtrum
  • hearing loss/hypoacusia/deafness
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • ataxia/incoordination/trouble of the equilibrium
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • broad nasal root
  • synophris/synophrys
  • decreased hair pigmentation/hypopigmentation of hair
  • white forelock/piebaldism
  • autosomal dominant inheritance
  • anomalies of eyelids, eyelashes and lacrimal system
  • macules
  • irregular/in bands/reticular skin hyperpigmentation
  • microcephaly
  • brachycephaly/flat occiput
  • heterochromia/mixed colouring of iris
  • irregular/patchy skin hypopigmentation

Drugs & Therapeutics for Piebaldism

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Piebaldism

Drug clinical trials:

Search ClinicalTrials for Piebaldism

Search NIH Clinical Center for Piebaldism

Search CenterWatch for Piebaldism

Genetic Tests for Piebaldism

About this section
Sources:
23GTR
See all sources

Genetic tests related to Piebaldism:

id Genetic test Affiliating Genes
1 Partial Albinism23

Anatomical Context for Piebaldism

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Piebaldism:

34
Skin, Eye

Animal Models for Piebaldism or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Piebaldism:

38 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.0KITLG, KIT, PDGFRA, PAX3
2MP:00053818.7KITLG, KIT, PDGFRA, SNAI2, PAX3
3MP:00053888.6SPRED1, PAX3, PDGFRA, RAB27A, KIT
4MP:00053808.6PAX3, SNAI2, PDGFRA, KIT, KITLG
5MP:00053778.4PAX3, MYO5A, MITF, KIT, KITLG
6MP:00053908.3PAX3, MITF, SNAI2, PDGFRA, KIT, KITLG
7MP:00053898.3MITF, SNAI2, PDGFRA, RAB27A, KIT, KITLG
8MP:00053798.0PAX3, MITF, SNAI2, PDGFRA, RAB27A, KIT
9MP:00028738.0PAX3, MYO5A, MITF, PDGFRA, KIT
10MP:00053767.9MLPH, PAX3, MITF, PDGFRA, RAB27A, KIT
11MP:00053717.6SPRED1, PAX3, MYO5A, MITF, PDGFRA, KIT
12MP:00053917.6MLPH, PAX3, MYO5A, MITF, SNAI2, RAB27A
13MP:00107687.4MLPH, PAX3, MYO5A, MITF, SNAI2, PDGFRA
14MP:00053867.3SPRED1, PAX3, MYO5A, MITF, SNAI2, PDGFRA
15MP:00053827.3SPRED1, PAX3, MYO5A, MITF, SNAI2, PDGFRA
16MP:00011867.2KITLG, MLPH, PAX3, MYO5A, MITF, SNAI2
17MP:00107717.2MLPH, PAX3, MYO5A, MITF, SNAI2, PDGFRA
18MP:00053976.9SPRED1, PAX3, MYO5A, MITF, SNAI2, PDGFRA
19MP:00036316.9SPRED1, PAX3, MYO5A, MITF, SNAI2, PDGFRA
20MP:00053786.9SPRED1, PAX3, MYO5A, MITF, SNAI2, PDGFRA
21MP:00053876.6SPRED1, MLPH, PAX3, MYO5A, MITF, SNAI2

Publications for Piebaldism

About this section
Sources:
53PubMed
See all sources

Articles related to Piebaldism:

(show top 50)    (show all 101)
idTitleAuthorsYear
1
Association of Piebaldism, multiple cafAc-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1). (23016555)
2013
2
A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family. (24000325)
2013
3
A novel mutation of the KIT gene in a Chinese family with piebaldism. (23786947)
2013
4
Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder. (23399981)
2013
5
Molecular characterization of two novel KIT mutations in patients with piebaldism. (22264755)
2012
6
Glycogen storage disease 1a with piebaldism. (22484741)
2012
7
Piebaldism: A brief report and review of the literature. (23130293)
2012
8
Piebaldism. (21918288)
2011
9
Piebaldism in a 2-year-old girl. (21382296)
2011
10
Long-term results of noncultured epidermal cellular grafting in vitiligo, halo naevi, piebaldism and naevus depigmentosus. (20804490)
2010
11
Long term results of non cultured epidermal cellular grafting in vitiligo, halo nevi, piebaldism and nevus depigmentosus. (20560951)
2010
12
Piebaldism and neurofibromatosis type 1: family report. (20137753)
2010
13
A novel KIT missense mutation in one Chinese family with piebaldism. (19430803)
2009
14
Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts. (17124503)
2007
15
New mutations of KIT gene in two Chinese patients with piebaldism. (17107413)
2006
16
A novel KIT gene mutation from a family with piebaldism in the southern part of China]. (16331568)
2005
17
Piebaldism: an update. (15485525)
2004
18
Mastocytosis or piebaldism--the KIT mutation decides]. (15055122)
2004
19
New KIT mutations in patients with piebaldism. (15194144)
2004
20
Deletion of the SLUG (SNAI2) gene results in human piebaldism. (12955764)
2003
21
Piebaldism in diamond-blackfan anaemia: a new phenotype? (12406103)
2002
22
Human piebaldism: six novel mutations of the proto-oncogene KIT. (12204004)
2002
23
De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation. (12407711)
2002
24
Piebaldism associated with congenital dyserythropoietic anemia type II (HEMPAS). (11891809)
2002
25
A novel KIT gene missense mutation in a Japanese family with piebaldism. (9699740)
1998
26
Repigmentation of leucodermic defects in piebaldism by dermabrasion and thin split-thickness skin grafting in combination with minigrafting. (9892949)
1998
27
Impaired growth and differentiation of diploid but not immortal melanoblasts from endothelin receptor B mutant (piebald) mice. (9853966)
1998
28
A 12-bp deletion (7818del12) in the c-kit protooncogene in a large Italian kindred with piebaldism. (8680409)
1995
29
Surgical combination therapy for vitiligo and piebaldism. (7551740)
1995
30
Expression of the c-kit receptor in hypomelanosis: a comparative study between piebaldism, naevus depigmentosus and vitiligo. (7534102)
1995
31
The molecular genetics of albinism and piebaldism. (8129415)
1994
32
Molecular basis of human piebaldism. (7525736)
1994
33
Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. (8001159)
1994
34
Inhibition of proliferation of human melanocytes by a KIT antisense oligodeoxynucleotide: implications for human piebaldism and mouse dominant white spotting (W). (7518854)
1994
35
Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. (7687267)
1993
36
Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4. (8415299)
1993
37
Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. (1370874)
1992
38
Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. (1384325)
1992
39
Deletion of the KIT and PDGFRA genes in a patient with piebaldism. (1279971)
1992
40
Piebaldism: an autonomous autosomal dominant entity. (1860249)
1991
41
Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. (1717985)
1991
42
Deletion of the c-kit protooncogene in the human developmental defect piebald trait. (1720553)
1991
43
Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait. (2773996)
1989
44
Piebaldism, Waardenburg's syndrome, and related disorders. "Neural crest depigmentation syndromes"? (3288381)
1988
45
Brown-SAcquard syndrome and piebaldism. (6950113)
1982
46
Pigmentary correction of piebaldism by autografts. II. Pathomechanism and pigment spread in piebaldism. (383410)
1979
47
Piebaldism. (1276057)
1976
48
Hirschsprung's disease, aganglionic or hypoganglionic megacolon. Animal model: aganglionic megacolon in piebald and spotted mutant mouse strains. (1124798)
1975
49
Congenital circumscribed hypomelanosis: a characterization based on electron microscopic study of tuberous sclerosis, nevus depigmentosus, and piebaldism. (1110305)
1975
50
Aganglionic megacolon in piebald-lethal mice. (4129273)
1974

Variations for Piebaldism

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Piebaldism:

65
id Symbol AA change Variation ID SNP ID
1KITp.Glu583LysVAR_004104
2KITp.Phe584LeuVAR_004105
3KITp.Gly664ArgVAR_004106
4KITp.Arg791GlyVAR_004107
5KITp.Gly812ValVAR_004108
6KITp.Phe584CysVAR_033129rs28933371
7KITp.Gly601ArgVAR_033130
8KITp.Leu656ProVAR_033131
9KITp.Arg796GlyVAR_033132
10KITp.Thr847ProVAR_033137

Clinvar genetic disease variations for Piebaldism:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1KITNM_000222.2(KIT): c.1990G> A (p.Gly664Arg)single nucleotide variantPathogenicrs121913679GRCh37Chr 4, 55594287: 55594287
2KITKIT, DELdeletionPathogenic
3KITKIT, PHE584LEUundetermined variantPathogenic
4KITKIT, 2-BP DEL, FS647TERdeletionPathogenic
5KITKIT, 1-BP DUP, FS578TERduplicationPathogenic
6KITNM_000222.2(KIT): c.1747G> A (p.Glu583Lys)single nucleotide variantPathogenicrs121913680GRCh37Chr 4, 55593681: 55593681
7KITKIT, 1-BP DEL, FS104TERdeletionPathogenic
8KITKIT, IVS12DS, G-A, +1single nucleotide variantPathogenic
9KITNM_000222.2(KIT): c.2539A> C (p.Thr847Pro)single nucleotide variantPathogenicrs121913687GRCh37Chr 4, 55602718: 55602718
10KITNM_000222.2(KIT): c.1751T> G (p.Phe584Cys)single nucleotide variantPathogenicrs28933371GRCh37Chr 4, 55593685: 55593685
11SNAI2NG_012130.1: g.(?_5165)_(7623_?)deldeletionPathogenic
12SNAI2NG_012130.1: g.(?_5165)_(7623_?)deldeletionPathogenic

Expression for genes affiliated with Piebaldism

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Piebaldism

Search GEO for disease gene expression data for Piebaldism.

Pathways for genes affiliated with Piebaldism

About this section
Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 54QIAGEN, 61Thomson Reuters, 5Cell Signaling Technology
See all sources

Pathways related to Piebaldism according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8RAB27A, MLPH
29.8PDGFRA, KIT
39.6MITF, PAX3
4
Show member pathways
9.3PDGFRA, KIT, KITLG
5
Show member pathways
9.3PDGFRA, KIT, KITLG
6
Show member pathways
9.3KITLG, KIT, PDGFRA
7
Show member pathways
9.3KITLG, KIT, PDGFRA
8
Show member pathways
Development EDNRB signaling61
Development ACM2 and ACM4 activation of ERK61
Cell adhesion Integrin inside out signaling61
Development G Proteins mediated regulation MARK ERK signaling61
Signal transduction IP3 signaling61
Development Angiotensin signaling via PYK261
Development EPO induced MAPK pathway61
9.3PDGFRA, KIT, KITLG
99.3KITLG, KIT, PDGFRA
10
Show member pathways
9.3PDGFRA, KIT, KITLG
119.3KITLG, KIT, PDGFRA
129.3SNAI2, MITF, PAX3
13
Show member pathways
9.2MITF, KIT, KITLG
14
Show member pathways
9.2KIT, PDGFRA, MYO5A
158.8PAX3, MITF, KIT, KITLG
168.8MITF, PDGFRA, KIT, KITLG
17
Show member pathways
8.4KITLG, KIT, PDGFRA, SNAI2, MYO5A
18
Show member pathways
8.4MYO5A, SNAI2, PDGFRA, KIT, KITLG
19
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)39
8.4KITLG, KIT, SNAI2, MITF, SPRED1

Compounds for genes affiliated with Piebaldism

About this section
Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB
See all sources

Compounds related to Piebaldism according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1pkc 4124610.1KIT, PDGFRA
2monochloroacetic acid4610.1KITLG, KIT
3su54164610.0KITLG, KIT
4pazopanib52 1211.0PDGFRA, KIT
5toluidine4610.0KITLG, KIT
6ponatinib52 1211.0KIT, PDGFRA
7rhodamine 12346 5211.0KITLG, KIT
8sunitinib46 52 1212.0PDGFRA, KIT
9regorafenib52 1210.9KIT, PDGFRA
10ag-1296469.7KITLG, KIT, PDGFRA
11hydroxyurea46 52 1211.6PDGFRA, KIT, KITLG
12imatinib46 52 1211.6PDGFRA, KIT, KITLG
13methylcellulose469.4KITLG, KIT
14rapamycin469.4PDGFRA, KIT, KITLG
15paraffin469.1MITF, PDGFRA, KIT, KITLG
16oligonucleotide469.1PAX3, MITF, PDGFRA, KIT
17estrogen469.0KITLG, KIT, PDGFRA, SNAI2
18glucose468.8KITLG, KIT, RAB27A, MYO5A
19vegf468.6KITLG, KIT, PDGFRA, CLEC11A
20tyrosine468.5KITLG, KIT, PDGFRA, SNAI2, MITF, PAX3
21retinoic acid46 259.4CLEC11A, PDGFRA, KIT, KITLG
22calcium46 52 25 1210.6KITLG, KIT, PDGFRA, MITF, MYO5A, CLEC11A

GO Terms for genes affiliated with Piebaldism

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Piebaldism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:0017509.5RAB27A, MYO5A
2microtubule plus-endGO:0353719.2MYO5A, MLPH

Biological processes related to Piebaldism according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase C activityGO:01086310.1PDGFRA, KIT
2pigmentationGO:04347310.1KIT, SNAI2
3ectopic germ cell programmed cell deathGO:03523410.1KIT, KITLG
4embryonic hemopoiesisGO:03516210.0KIT, KITLG
5positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.9KIT, PDGFRA
6protein targetingGO:0066059.8RAB27A, MLPH
7positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.8KIT, PDGFRA
8melanosome transportGO:0324029.8RAB27A, MYO5A
9positive regulation of cell migrationGO:0303359.8KIT, PDGFRA, SNAI2
10neural crest cell migrationGO:0017559.8PAX3, KITLG
11phosphatidylinositol-mediated signalingGO:0480159.6PDGFRA, KIT, KITLG
12fibroblast growth factor receptor signaling pathwayGO:0085439.6KITLG, KIT, PDGFRA
13Fc-epsilon receptor signaling pathwayGO:0380959.5KITLG, KIT, PDGFRA
14positive regulation of DNA replicationGO:0457409.5PDGFRA, KITLG
15epidermal growth factor receptor signaling pathwayGO:0071739.5PDGFRA, KIT, KITLG
16cell chemotaxisGO:0603269.5KIT, PDGFRA
17neurotrophin TRK receptor signaling pathwayGO:0480119.4KITLG, KIT, PDGFRA
18positive regulation of cell proliferationGO:0082848.9CLEC11A, PAX3, PDGFRA, KIT
19melanocyte differentiationGO:0303188.7KIT, RAB27A, MITF, MYO5A, MLPH

Molecular functions related to Piebaldism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin V bindingGO:0314899.9RAB27A, MLPH
2transmembrane receptor protein tyrosine kinase activityGO:0047149.7PDGFRA, KIT
3stem cell factor receptor bindingGO:0051739.6KITLG, SPRED1
4Rab GTPase bindingGO:0171379.5MYO5A, MLPH
5RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.3SNAI2, MITF, PAX3
6chromatin bindingGO:0036829.0SNAI2, MITF, PAX3

Products for genes affiliated with Piebaldism

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Piebaldism

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet