MCID: PBL001
MIFTS: 59

Piebaldism malady

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

Summaries for Piebaldism

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NIH Rare Diseases:41 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 based summary: Piebaldism, also known as piebald trait, is related to neurofibromatosis and waardenburg's syndrome, and has symptoms including hypopigmented skin patches, white forelock and hypermelanotic macule. 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:21 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.

OMIM:45 Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas... (172800) more...

Wikipedia:63 Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common characteristics... more...

Aliases & Classifications for Piebaldism

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 22GTR, 38NCIt, 33MeSH, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Piebaldism, Aliases & Descriptions:

Name: Piebaldism 45 9 10 41 21 11 43 47 60
Piebald Trait 45 9 21
Partial Albinism 9 22
 
Pbt 41 21
Albinoidism, Oculocutaneous, Autosomal Dominant 60


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
piebaldism:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM45 172800
Disease Ontology9 DOID:3263
NCIt38 C85009
MeSH33 D016116
SNOMED-CT55 6479008
Orphanet47 2884
MESH via Orphanet34 D016116
ICD10 via Orphanet26 E70.3
UMLS via Orphanet61 C0080024

Related Diseases for Piebaldism

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

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis30.9PDGFRA, SPRED1
2waardenburg's syndrome30.4PAX3, MITF, SNAI2
3mastocytosis29.9MITF, PDGFRA, KITLG, KIT
4uterine carcinosarcoma10.5KIT
5griscelli syndrome10.5
6myelofibrosis10.4PDGFRA
7mesenchymal cell neoplasm10.3KIT, PDGFRA
8hypereosinophilic syndrome, idiopathic, resistant to imatinib10.3PDGFRA, KIT
9desmoid disease, hereditary10.3PDGFRA, KIT
10carney triad10.3PDGFRA, KIT
11urticaria pigmentosa10.3KIT, KITLG
12endometrial stromal sarcoma10.3KIT, PDGFRA
13systemic mastocytosis10.3KIT, KITLG
14hypereosinophilic syndrome10.3KIT, PDGFRA
15pigmentation disease10.3KIT, MITF
16dysgerminoma10.3KIT, KITLG
17neurofibromatosis, type 110.3
18mast cell neoplasm10.3KIT, KITLG
19refractory anemia10.3KIT, KITLG
20malignant peripheral nerve sheath tumor10.3KIT, PDGFRA
21clear cell sarcoma10.3MITF, KIT
22essential thrombocythemia10.3KITLG, KIT
23angiomyolipoma10.3KIT, MITF
24megacolon10.2
25telfer sugar jaeger syndrome10.2
26piebald trait, kit-related10.2
27piebald trait, snai2-related10.2
28mental retardation10.2
29griscelli syndrome, type 210.2
30precursor b-cell acute lymphoblastic leukemia10.2KITLG, KIT
31leiomyosarcoma10.2PDGFRA, KIT
32hirschsprung disease 110.2MITF, PAX3
33chronic myelomonocytic leukemia10.1KIT, PDGFRA, KITLG
34neural tube defects10.1PDGFRA, PAX3
35polycythemia vera10.1KITLG, KIT, PDGFRA
36gastrointestinal stromal tumor10.1KITLG, KIT, PDGFRA
37seminoma10.1KITLG, KIT, PDGFRA
38bone marrow cancer10.1KIT, PDGFRA, KITLG
39albinism-deafness syndrome10.1
40microphthalmia10.1PAX3, MITF, KIT
41embryonal cancer10.1KITLG, PDGFRA, KIT
42myelodysplastic syndrome10.1PDGFRA, KIT, KITLG
43neurilemmoma10.1PDGFRA, KIT, MITF
44leukemia, chronic myeloid10.1KIT, KITLG, PDGFRA
45vitiligo-associated multiple autoimmune disease susceptibility 110.1MITF, KITLG
46small cell cancer of the lung, somatic10.1KITLG, KIT, PDGFRA
47sensorineural hearing loss10.1PAX3, MITF
48waardenburg syndrome, type 310.1
49waardenburg syndrome, type 2a10.1
50albinism, oculocutaneous, type iii10.1

Graphical network of the top 20 diseases related to Piebaldism:



Diseases related to piebaldism

Symptoms for Piebaldism

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Symptoms by clinical synopsis from OMIM:

172800

Clinical features from OMIM:

172800

Symptoms:

 47 (show all 20)
  • irregular/patchy skin hypopigmentation
  • 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
  • synophris/synophrys
  • broad nasal root
  • 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)

HPO human phenotypes related to Piebaldism:

(show all 24)
id Description Frequency HPO Source Accession
1 hypopigmented skin patches hallmark (90%) HP:0001053
2 white forelock hallmark (90%) HP:0002211
3 hypermelanotic macule typical (50%) HP:0001034
4 microcephaly occasional (7.5%) HP:0000252
5 long philtrum occasional (7.5%) HP:0000343
6 hearing impairment occasional (7.5%) HP:0000365
7 wide nasal bridge occasional (7.5%) HP:0000431
8 synophrys occasional (7.5%) HP:0000664
9 heterochromia iridis occasional (7.5%) HP:0001100
10 muscular hypotonia occasional (7.5%) HP:0001252
11 aganglionic megacolon occasional (7.5%) HP:0002251
12 incoordination occasional (7.5%) HP:0002311
13 abnormality of calvarial morphology occasional (7.5%) HP:0002648
14 neoplasm of the skin occasional (7.5%) HP:0008069
15 cognitive impairment occasional (7.5%) HP:0100543
16 autosomal dominant inheritance HP:0000006
17 abnormality of the ear HP:0000598
18 heterochromia iridis HP:0001100
19 white forelock HP:0002211
20 aganglionic megacolon HP:0002251
21 neoplasm HP:0002664
22 partial albinism HP:0007443
23 absent pigmentation of the ventral chest HP:0007542
24 piebaldism HP:0007544

Drugs & Therapeutics for Piebaldism

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Drug clinical trials:

Search ClinicalTrials for Piebaldism

Search NIH Clinical Center for Piebaldism

Genetic Tests for Piebaldism

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Genetic tests related to Piebaldism:

id Genetic test Affiliating Genes
1 Partial Albinism22

Anatomical Context for Piebaldism

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MalaCards organs/tissues related to Piebaldism:

31
Skin, Eye

Animal Models for Piebaldism or affiliated genes

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MGI Mouse Phenotypes related to Piebaldism:

35 (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

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Articles related to Piebaldism:

(show top 50)    (show all 107)
idTitleAuthorsYear
1
Piebaldism with non-intertriginous freckles: what does it mean? (24685861)
2014
2
A novel mutation of KIT gene results in piebaldism in a Chinese family. (25199540)
2014
3
Piebaldism with neurofibromatosis type I: a familial case. (24882989)
2014
4
Piebaldism in a 3-month-old infant--case report. (24961053)
2014
5
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
6
A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family. (24000325)
2013
7
A novel mutation of the KIT gene in a Chinese family with piebaldism. (23786947)
2013
8
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
9
Molecular characterization of two novel KIT mutations in patients with piebaldism. (22264755)
2012
10
Glycogen storage disease 1a with piebaldism. (22484741)
2012
11
Piebaldism: A brief report and review of the literature. (23130293)
2012
12
Piebaldism. (21918288)
2011
13
Piebaldism in a 2-year-old girl. (21382296)
2011
14
Long-term results of noncultured epidermal cellular grafting in vitiligo, halo naevi, piebaldism and naevus depigmentosus. (20804490)
2010
15
Long term results of non cultured epidermal cellular grafting in vitiligo, halo nevi, piebaldism and nevus depigmentosus. (20560951)
2010
16
Piebaldism and neurofibromatosis type 1: family report. (20137753)
2010
17
A novel KIT missense mutation in one Chinese family with piebaldism. (19430803)
2009
18
Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts. (17124503)
2007
19
New mutations of KIT gene in two Chinese patients with piebaldism. (17107413)
2006
20
A novel KIT gene mutation from a family with piebaldism in the southern part of China]. (16331568)
2005
21
Piebaldism: an update. (15485525)
2004
22
Mastocytosis or piebaldism--the KIT mutation decides]. (15055122)
2004
23
Deletion of the SLUG (SNAI2) gene results in human piebaldism. (12955764)
2003
24
Piebaldism in diamond-blackfan anaemia: a new phenotype? (12406103)
2002
25
Human piebaldism: six novel mutations of the proto-oncogene KIT. (12204004)
2002
26
De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation. (12407711)
2002
27
Piebaldism associated with congenital dyserythropoietic anemia type II (HEMPAS). (11891809)
2002
28
A novel KIT gene missense mutation in a Japanese family with piebaldism. (9699740)
1998
29
Repigmentation of leucodermic defects in piebaldism by dermabrasion and thin split-thickness skin grafting in combination with minigrafting. (9892949)
1998
30
Impaired growth and differentiation of diploid but not immortal melanoblasts from endothelin receptor B mutant (piebald) mice. (9853966)
1998
31
A 12-bp deletion (7818del12) in the c-kit protooncogene in a large Italian kindred with piebaldism. (8680409)
1995
32
Surgical combination therapy for vitiligo and piebaldism. (7551740)
1995
33
Expression of the c-kit receptor in hypomelanosis: a comparative study between piebaldism, naevus depigmentosus and vitiligo. (7534102)
1995
34
The molecular genetics of albinism and piebaldism. (8129415)
1994
35
Molecular basis of human piebaldism. (7525736)
1994
36
Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. (8001159)
1994
37
Inhibition of proliferation of human melanocytes by a KIT antisense oligodeoxynucleotide: implications for human piebaldism and mouse dominant white spotting (W). (7518854)
1994
38
Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. (7687267)
1993
39
Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. (1370874)
1992
40
Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. (1384325)
1992
41
Deletion of the KIT and PDGFRA genes in a patient with piebaldism. (1279971)
1992
42
Piebaldism: an autonomous autosomal dominant entity. (1860249)
1991
43
Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. (1717985)
1991
44
Deletion of the c-kit protooncogene in the human developmental defect piebald trait. (1720553)
1991
45
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
46
Brown-SAcquard syndrome and piebaldism. (6950113)
1982
47
Pigmentary correction of piebaldism by autografts. II. Pathomechanism and pigment spread in piebaldism. (383410)
1979
48
Piebaldism. (1276057)
1976
49
Hirschsprung's disease, aganglionic or hypoganglionic megacolon. Animal model: aganglionic megacolon in piebald and spotted mutant mouse strains. (1124798)
1975
50
Aganglionic megacolon in piebald-lethal mice. (4129273)
1974

Variations for Piebaldism

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UniProtKB/Swiss-Prot genetic disease variations for Piebaldism:

62
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:

6 (show all 11)
id Gene Variation 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

Expression for genes affiliated with Piebaldism

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Search GEO for disease gene expression data for Piebaldism.

Pathways for genes affiliated with Piebaldism

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Pathways related to Piebaldism according to GeneCards Suite gene sharing:

(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 signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
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)36
8.4KITLG, KIT, SNAI2, MITF, SPRED1

Compounds for genes affiliated with Piebaldism

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Sources:
43Novoseek, 49PharmGKB, 12DrugBank, 24HMDB
See all sources

Compounds related to Piebaldism according to GeneCards Suite gene sharing:

(show all 22)
idCompoundScoreTop Affiliating Genes
1pkc 4124310.1KIT, PDGFRA
2monochloroacetic acid4310.1KITLG, KIT
3su54164310.0KITLG, KIT
4pazopanib49 1211.0PDGFRA, KIT
5toluidine4310.0KITLG, KIT
6ponatinib49 1211.0KIT, PDGFRA
7rhodamine 12343 4911.0KITLG, KIT
8sunitinib43 49 1212.0PDGFRA, KIT
9regorafenib49 1210.9KIT, PDGFRA
10ag-1296439.7KITLG, KIT, PDGFRA
11hydroxyurea43 49 1211.6PDGFRA, KIT, KITLG
12imatinib43 49 1211.6PDGFRA, KIT, KITLG
13methylcellulose439.4KITLG, KIT
14rapamycin439.4PDGFRA, KIT, KITLG
15paraffin439.1MITF, PDGFRA, KIT, KITLG
16oligonucleotide439.1PAX3, MITF, PDGFRA, KIT
17estrogen439.0KITLG, KIT, PDGFRA, SNAI2
18glucose438.8KITLG, KIT, RAB27A, MYO5A
19vegf438.6KITLG, KIT, PDGFRA, CLEC11A
20tyrosine438.5KITLG, KIT, PDGFRA, SNAI2, MITF, PAX3
21retinoic acid43 249.4CLEC11A, PDGFRA, KIT, KITLG
22calcium43 49 24 1210.6KITLG, KIT, PDGFRA, MITF, MYO5A, CLEC11A

GO Terms for genes affiliated with Piebaldism

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Cellular components related to Piebaldism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:00017509.5RAB27A, MYO5A
2microtubule plus-endGO:00353719.2MYO5A, MLPH

Biological processes related to Piebaldism according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase C activityGO:001086310.1PDGFRA, KIT
2pigmentationGO:004347310.1KIT, SNAI2
3ectopic germ cell programmed cell deathGO:003523410.1KIT, KITLG
4embryonic hemopoiesisGO:003516210.0KIT, KITLG
5positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.9KIT, PDGFRA
6protein targetingGO:00066059.8RAB27A, MLPH
7positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.8KIT, PDGFRA
8melanosome transportGO:00324029.8RAB27A, MYO5A
9positive regulation of cell migrationGO:00303359.8KIT, PDGFRA, SNAI2
10neural crest cell migrationGO:00017559.8PAX3, KITLG
11phosphatidylinositol-mediated signalingGO:00480159.6PDGFRA, KIT, KITLG
12fibroblast growth factor receptor signaling pathwayGO:00085439.6KITLG, KIT, PDGFRA
13Fc-epsilon receptor signaling pathwayGO:00380959.5KITLG, KIT, PDGFRA
14positive regulation of DNA replicationGO:00457409.5PDGFRA, KITLG
15epidermal growth factor receptor signaling pathwayGO:00071739.5PDGFRA, KIT, KITLG
16cell chemotaxisGO:00603269.5KIT, PDGFRA
17neurotrophin TRK receptor signaling pathwayGO:00480119.4KITLG, KIT, PDGFRA
18positive regulation of cell proliferationGO:00082848.9CLEC11A, PAX3, PDGFRA, KIT
19melanocyte differentiationGO:00303188.7KIT, RAB27A, MITF, MYO5A, MLPH

Molecular functions related to Piebaldism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myosin V bindingGO:00314899.9RAB27A, MLPH
2transmembrane receptor protein tyrosine kinase activityGO:00047149.7PDGFRA, KIT
3stem cell factor receptor bindingGO:00051739.6KITLG, SPRED1
4Rab GTPase bindingGO:00171379.5MYO5A, MLPH
5RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.3SNAI2, MITF, PAX3
6chromatin bindingGO:00036829.0SNAI2, MITF, PAX3

Products for genes affiliated with Piebaldism

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Piebaldism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet