PBT
MCID: PBL001
MIFTS: 66

Piebaldism (PBT) malady

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

Summaries for Piebaldism

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NIH Rare Diseases:42 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 vitiligo, 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: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.

OMIM:46 Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas... (172800) more...

Wikipedia:64 Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common characteristics... more...

Aliases & Classifications for Piebaldism

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Sources:
9Disease Ontology, 10diseasecard, 42NIH Rare Diseases, 22Genetics Home Reference, 46OMIM, 11DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 23GTR, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Piebaldism, Aliases & Descriptions:

Name: Piebaldism 9 10 42 22 46 11 44 48 61
Piebald Trait 9 22 61
Partial Albinism 9 23
 
Pbt 42 22
Albinoidism, Oculocutaneous, Autosomal Dominant 61


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
piebaldism:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

Disease Ontology9 DOID:3263
MeSH34 D016116
OMIM46 172800
NCIt39 C85009
SNOMED-CT56 6479008
MESH via Orphanet35 D016116
ICD10 via Orphanet27 E70.3
UMLS via Orphanet62 C0080024

Related Diseases for Piebaldism

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

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis30.9PDGFRA, SPRED1
2vitiligo30.7MITF, KITLG
3hirschsprung's disease30.2MITF, PAX3
4waardenburg's syndrome30.2PAX3, MITF, SNAI2
5mastocytosis29.9MITF, PDGFRA, KITLG, KIT
6uterine carcinosarcoma10.5KIT
7griscelli syndrome10.4
8myelofibrosis10.4PDGFRA
9mesenchymal cell neoplasm10.3KIT, PDGFRA
10desmoid tumor10.3PDGFRA, KIT
11carney triad10.3PDGFRA, KIT
12urticaria pigmentosa10.3KIT, KITLG
13endometrial stromal sarcoma10.3KIT, PDGFRA
14neural tube defects10.3PDGFRA, PAX3
15systemic mastocytosis10.3KIT, KITLG
16hypereosinophilic syndrome10.3KIT, PDGFRA
17pigmentation disease10.3KIT, MITF
18dysgerminoma10.3KIT, KITLG
19mast cell neoplasm10.3KIT, KITLG
20refractory anemia10.3KIT, KITLG
21malignant peripheral nerve sheath tumor10.3KIT, PDGFRA
22telfer sugar jaeger syndrome10.3
23clear cell sarcoma10.3MITF, KIT
24hemorrhagic thrombocythemia10.3KITLG, KIT
25angiomyolipoma10.3KIT, MITF
26leukemia, acute lymphoblastic 310.2KITLG, KIT
27megacolon10.2
28mental retardation10.2
29griscelli syndrome type 110.2
30griscelli syndrome type 210.2
31leiomyosarcoma10.2PDGFRA, KIT
32pdgfrb-associated chronic eosinophilic leukemia10.2KIT, PDGFRA, KITLG
33spina bifida10.2PDGFRA, PAX3
34polycythemia vera10.2KITLG, KIT, PDGFRA
35gastrointestinal stromal tumor10.1KITLG, KIT, PDGFRA
36seminoma10.1KITLG, KIT, PDGFRA
37bone marrow cancer10.1KIT, PDGFRA, KITLG
38microphthalmia10.1PAX3, MITF, KIT
39embryonal cancer10.1KITLG, PDGFRA, KIT
40myelodysplastic syndromes10.1PDGFRA, KIT, KITLG
41piebald trait, kit-related10.1
42piebald trait, snai2-related10.1
43neurilemmoma10.1PDGFRA, KIT, MITF
44chronic myeloid leukemia10.1KIT, KITLG, PDGFRA
45lung small cell carcinoma10.1KITLG, KIT, PDGFRA
46sensorineural hearing loss10.1PAX3, MITF
47albinism immunodeficiency10.1
48peripheral primitive neuroectodermal tumor10.0KITLG, KIT, PDGFRA, PAX3
49sarcoma10.0KITLG, KIT, PAX3, PDGFRA
50glycogen storage disease10.0

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:

 48 (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 Albinism23

Anatomical Context for Piebaldism

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MalaCards organs/tissues related to Piebaldism:

32
Skin, Eye

Animal Models for Piebaldism or affiliated genes

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MGI Mouse Phenotypes related to Piebaldism:

36 (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 108)
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:

63
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:

7 (show all 11)
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

Expression for genes affiliated with Piebaldism

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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

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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 signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
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)37
8.4KITLG, KIT, SNAI2, MITF, SPRED1

Compounds for genes affiliated with Piebaldism

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Sources:
44Novoseek, 50PharmGKB, 12DrugBank, 25HMDB
See all sources

Compounds related to Piebaldism according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1pkc 4124410.1KIT, PDGFRA
2monochloroacetic acid4410.1KITLG, KIT
3su54164410.0KITLG, KIT
4pazopanib50 1211.0PDGFRA, KIT
5toluidine4410.0KITLG, KIT
6ponatinib50 1211.0KIT, PDGFRA
7rhodamine 12344 5011.0KITLG, KIT
8sunitinib44 50 1212.0PDGFRA, KIT
9regorafenib50 1210.9KIT, PDGFRA
10ag-1296449.7KITLG, KIT, PDGFRA
11hydroxyurea44 50 1211.6PDGFRA, KIT, KITLG
12imatinib44 50 1211.6PDGFRA, KIT, KITLG
13methylcellulose449.4KITLG, KIT
14rapamycin449.4PDGFRA, KIT, KITLG
15paraffin449.1MITF, PDGFRA, KIT, KITLG
16oligonucleotide449.1PAX3, MITF, PDGFRA, KIT
17estrogen449.0KITLG, KIT, PDGFRA, SNAI2
18glucose448.8KITLG, KIT, RAB27A, MYO5A
19vegf448.6KITLG, KIT, PDGFRA, CLEC11A
20tyrosine448.5KITLG, KIT, PDGFRA, SNAI2, MITF, PAX3
21retinoic acid44 259.4CLEC11A, PDGFRA, KIT, KITLG
22calcium44 50 25 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/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

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

Sources for Piebaldism

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet