PBT
MCID: PBL001
MIFTS: 59

Piebaldism (PBT) malady

Eye, Skin categories

Summaries for Piebaldism

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 irregular/patchy skin hypopigmentation, decreased hair pigmentation/hypopigmentation of hair and white forelock/piebaldism. 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 Regulation of KIT signaling. The compounds pkc 412 and monochloroacetic acid have been mentioned in the context of this disorder. Affiliated tissues include skin and t cells, and related mouse phenotypes are endocrine/exocrine gland and pigmentation.

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.

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

Description from OMIM:47 172800

Aliases & Classifications for Piebaldism

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 40NCIt, 35MeSH, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye, Skin


Characteristics (Orphanet epidemiological data):

49
piebaldism:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

piebaldism 8 9 43 21 47 10 45 49 61
partial albinism 8 22
piebald trait 8 21
pbt 43 21
albinoidism, oculocutaneous, autosomal dominant 61


External Ids:

Disease Ontology8 DOID:3263
NCIt40 C85009
OMIM47 172800
MeSH35 D016116
SNOMED-CT57 6479008
MESH via Orphanet36 D016116
ICD10 via Orphanet26 E70.3
SNOMED-CT via Orphanet58 6479008
UMLS via Orphanet62 C0080024

Related Diseases for Piebaldism

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 98)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis30.5PDGFRA
2vitiligo30.4MITF, KITLG
3waardenburg's syndrome30.3PAX3, MITF, SNAI2, EDNRB
4albinism29.9HPS1
5mastocytosis29.8PDGFRA, MITF, KITLG, KIT
6hirschsprung's disease29.8EDNRB, MITF, PAX3
7albinism immunodeficiency10.4
8griscelli syndrome10.4
9hypopigmentation of eyelid10.4
10tietz syndrome10.4
11hypomelanotic disorder10.4
12griscelli syndrome type 110.2
13griscelli syndrome type 210.2
14n syndrome10.2
15telfer sugar jaeger syndrome10.2
16piebald trait, kit-related10.2
17piebald trait, snai2-related10.1
18mental retardation10.1
19dandy-walker syndrome10.0
20chediak-higashi syndrome10.0
21silvery hair syndrome10.0
22hemophagocytic lymphohistiocytosis10.0RAB27A
23perivascular epithelioid cell tumor10.0MITF
24pancreatic cancer10.0SNAI2
25pancreatitis10.0KITLG
26myelofibrosis10.0PDGFRA
27retinoblastoma10.0MITF
28chondroma10.0PDGFRA
29oligodendroglioma10.0PDGFRA
30gastrointestinal stromal tumor, somatic10.0KIT, PDGFRA
31gastrointestinal stromal tumor10.0KIT, PDGFRA
32polycythemia10.0KITLG
33germinoma10.0KIT
34diabetic retinopathy10.0TEK
35mesenchymal cell neoplasm10.0PDGFRA, KIT
36hypereosinophilic syndrome10.0KIT, PDGFRA
37pigmentation disease10.0KIT, MITF
38carney triad10.0KIT, PDGFRA
39myeloid leukemia10.0KIT, KITLG
40uterine carcinosarcoma10.0KIT
41endometrial stromal sarcoma10.0PDGFRA, KIT
42urticaria pigmentosa10.0KITLG, KIT
43clear cell sarcoma10.0KIT, MITF
44leiomyosarcoma10.0PDGFRA, KIT
45mast-cell leukemia10.0KIT, KITLG
46neural tube defects10.0PAX3, PDGFRA
47arthritis10.0TEK
48rhabdomyosarcoma10.0PAX3, PDGFRA
49mast cell neoplasm10.0KIT, KITLG
50refractory anemia10.0KIT, KITLG

Graphical network of the top 20 diseases related to Piebaldism:



Diseases related to piebaldism

Clinical Features for Piebaldism

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

172800

Clinical synopsis from OMIM:

172800

Symptoms:

49 (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)

Drugs & Therapeutics for Piebaldism

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
22GTR
See all sources

Genetic tests related to Piebaldism:

id Genetic test Affiliating Genes
1 Partial Albinism22

Anatomical Context for Piebaldism

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Piebaldism:

33
Skin, T cells

Animal Models for Piebaldism or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Piebaldism:

37 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.2PDGFRA, KITLG, KIT, RAB27A, PAX3
2MP:00011868.9PAX3, HPS1, MITF, MYO5A
3MP:00053698.8PDGFRA, EDNRB, MYO5A, PAX3
4MP:00053898.7RAB27A, KIT, KITLG, MITF, SNAI2, PDGFRA
5MP:00036318.5EDNRB, MYO5A, KITLG, KIT, RAB27A, PAX3
6MP:00053818.4PDGFRA, EDNRB, SNAI2, KITLG, KIT, PAX3
7MP:00020068.3PDGFRA, EDNRB, KITLG, KIT, PAX3
8MP:00053908.2PDGFRA, EDNRB, SNAI2, MITF, KITLG, KIT
9MP:00053808.0PDGFRA, EDNRB, SNAI2, KITLG, KIT, TEK
10MP:00030127.9PDGFRA, EDNRB, MITF, HPS1, KIT, PAX3
11MP:00053867.9PDGFRA, EDNRB, SNAI2, MYO5A, MITF, KIT
12MP:00053677.8PDGFRA, FABP2, EDNRB, HPS1, KIT, PAX3
13MP:00053777.7EDNRB, MYO5A, MITF, HPS1, KITLG, KIT
14MP:00053717.4PDGFRA, EDNRB, MYO5A, MITF, HPS1, KITLG
15MP:00053857.2PDGFRA, EDNRB, HPS1, KITLG, KIT, TEK
16MP:00053827.1PDGFRA, EDNRB, SNAI2, MYO5A, MITF, HPS1
17MP:00053847.0PDGFRA, EDNRB, SNAI2, HPS1, KITLG, KIT
18MP:00053976.9PDGFRA, SNAI2, MYO5A, MITF, HPS1, KITLG
19MP:00053916.9MYO5A, MLPH, SNAI2, EDNRB, MITF, HPS1
20MP:00053786.6SNAI2, EDNRB, FABP2, PDGFRA, MYO5A, MITF
21MP:00107716.6PDGFRA, EDNRB, SNAI2, MLPH, MYO5A, MITF
22MP:00053876.6PDGFRA, EDNRB, SNAI2, MLPH, MYO5A, MITF
23MP:00107686.2PDGFRA, EDNRB, SNAI2, MLPH, MYO5A, MITF
24MP:00053766.1MLPH, EDNRB, FABP2, PDGFRA, MITF, HPS1

Publications for Piebaldism

Sources:
51PubMed
See all sources

Articles related to Piebaldism:

(show top 50)    (show all 92)
idTitleAuthorsYear
1
A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family. (24000325)
2013
2
A novel mutation of the KIT gene in a Chinese family with piebaldism. (23786947)
2013
3
Piebaldism and neurofibromatosis: state of knowledge. (23374959)
2013
4
Molecular characterization of two novel KIT mutations in patients with piebaldism. (22264755)
2012
5
Glycogen storage disease 1a with piebaldism. (22484741)
2012
6
Piebaldism: A brief report and review of the literature. (23130293)
2012
7
Haplotype variability in the bovine MITF gene and association with piebaldism in Holstein and Simmental cattle breeds. (22486495)
2012
8
Piebaldism. (21918288)
2011
9
Letter: Misdiagnosis of "neurofibromatosis" in patients with piebaldism. (22136869)
2011
10
Long-term results of noncultured epidermal cellular grafting in vitiligo, halo naevi, piebaldism and naevus depigmentosus. (20804490)
2010
11
Piebaldism and neurofibromatosis type 1: family report. (20137753)
2010
12
In vivo and in vitro evidence for epidermal H2O2-mediated oxidative stress in piebaldism. (19758321)
2010
13
A novel mutation in the kinase domain of KIT in an Indian family with a mild piebaldism phenotype. (20688482)
2010
14
Simplified cellular grafting for treatment of vitiligo and piebaldism: the "6-well plate" technique. (20039922)
2010
15
Melanocyte transplant in piebaldism: case report. (20676476)
2010
16
Familial case of piebaldism with regression of white forelock. (18355360)
2008
17
Piebaldism: a case report and a concise review of the literature. (18189028)
2007
18
A novel KIT gene mutation from a family with piebaldism in the southern part of China]. (16331568)
2005
19
Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism. (15737214)
2005
20
Piebaldism. (16403390)
2005
21
Piebaldism: an update. (15485525)
2004
22
Piebaldism and neurofibromatosis type 1: horses of very different colors. (15009761)
2004
23
Autologous punch grafting for repigmentation in piebaldism. (14684948)
2003
24
Human piebaldism: six novel mutations of the proto-oncogene KIT. (12204004)
2002
25
Piebaldism associated with congenital dyserythropoietic anemia type II (HEMPAS). (11891809)
2002
26
A novel KIT gene missense mutation in a Japanese family with piebaldism. (9699740)
1998
27
Neurofibromatosis 1 and piebaldism: a case report. (9873189)
1998
28
Piebaldism with deafness: molecular evidence for an expanded syndrome. (9450866)
1998
29
Graft-versus-host reaction affecting lesional skin but not normal skin in a patient with piebaldism. (8745900)
1996
30
Mutations in the ligand-binding domain of the kit receptor: an uncommon site in human piebaldism. (8875953)
1996
31
A 12-bp deletion (7818del12) in the c-kit protooncogene in a large Italian kindred with piebaldism. (8680409)
1995
32
The molecular genetics of albinism and piebaldism. (8129415)
1994
33
Molecular basis of human piebaldism. (7525736)
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
Rubinstein-Taybi syndrome with piebaldism. (8050153)
1994
36
Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. (7687267)
1993
37
Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4. (8415299)
1993
38
Ultrastructural study of two patients with both piebaldism and neurofibromatosis 1. (8415298)
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
Piebaldism: an autonomous autosomal dominant entity. (1860249)
1991
42
Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. (1717985)
1991
43
Piebaldism, Waardenburg's syndrome, and related disorders. "Neural crest depigmentation syndromes"? (3288381)
1988
44
Piebaldism-Waardenburg syndrome: histopathologic evidence for a neural crest syndrome. (3228147)
1988
45
Pigmentary correction of piebaldism by autografts. I. Procedures and clinical findings. (338655)
1977
46
Piebaldism. (1276057)
1976
47
Congenital circumscribed hypomelanosis: a characterization based on electron microscopic study of tuberous sclerosis, nevus depigmentosus, and piebaldism. (1110305)
1975
48
Mast cells in the epidermis of piebaldism. (1115524)
1975
49
ELECTRON MICROSCOPY OF MELANOCYTES IN HUMAN PIEBALDISM. (14310308)
1965
50
An outline, with bibliography, of human piebaldism and white forelock. (13640782)
1959

Genetic Variations for Piebaldism

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Piebaldism:

63
id Symbol AA change Variation 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

Expression for genes affiliated with Piebaldism

Sources:
1BioGPS, 15Gene 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

Sources:
38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 30KEGG, 52QIAGEN, 4Cell Signaling Technology
See all sources

Pathways related to Piebaldism according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MLPH, RAB27A
29.9KITLG, KIT
39.7TEK, PDGFRA
4
Hide members
9.6KIT, KITLG, PDGFRA
59.6SNAI2, MITF, PAX3
6
Hide members
9.3SNAI2, MITF, KITLG, KIT
7
Hide members
9.2KIT, KITLG, EDNRB
89.2KIT, KITLG, MITF, PDGFRA
99.2PAX3, KIT, KITLG, MITF
109.0PDGFRA, KITLG, KIT, TEK
11
Hide members
9.0PDGFRA, KITLG, KIT, TEK
129.0TEK, KIT, KITLG, PDGFRA
13
Hide members
9.0PDGFRA, KITLG, KIT, TEK
14
Hide members
9.0TEK, KIT, MYO5A, PDGFRA
15
Hide members
8.9KIT, KITLG, MITF, EDNRB
16
Hide members
8.4PDGFRA, EDNRB, KITLG, KIT, TEK
17
Hide members
8.4PDGFRA, SNAI2, MYO5A, KITLG, KIT, TEK
18
Hide members
8.4PDGFRA, SNAI2, MYO5A, KITLG, KIT, TEK

Compounds for genes affiliated with Piebaldism

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB
See all sources

Compounds related to Piebaldism according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1pkc 4124510.2KIT, PDGFRA
2monochloroacetic acid4510.1KIT, KITLG
3Pazopanib1110.1KIT, PDGFRA
4su54164510.1KITLG, KIT
5toluidine4510.1KITLG, KIT
6sunitinib45 50 1111.9KIT, PDGFRA
7ag-1296459.9KIT, KITLG, PDGFRA
8rhodamine 12345 5010.9KITLG, KIT
9hydroxyurea45 50 1111.8PDGFRA, KITLG, KIT
10Ponatinib 119.8TEK, KIT, PDGFRA
11Regorafenib119.7PDGFRA, KIT, TEK
12imatinib45 50 1111.5KIT, KITLG, PDGFRA
13agarose459.4EDNRB, KITLG, KIT
14thymidine45 2410.1TEK, KIT, KITLG, PDGFRA
15paraffin459.0PDGFRA, MITF, KITLG, KIT, TEK
16phosphatidylinositol458.7PDGFRA, EDNRB, KITLG, KIT, TEK
17glucose458.3FABP2, EDNRB, MYO5A, KITLG, KIT, RAB27A
18vegf458.3PDGFRA, EDNRB, CLEC11A, KITLG, KIT, TEK
19retinoic acid45 249.3PDGFRA, FABP2, EDNRB, CLEC11A, KITLG, KIT
20cysteine457.9FABP2, EDNRB, KIT, TEK, PAX3
21calcium45 50 11 2410.9PDGFRA, EDNRB, MYO5A, MITF, CLEC11A, KITLG
22tyrosine457.8PDGFRA, EDNRB, SNAI2, MITF, KITLG, KIT

GO Terms for genes affiliated with Piebaldism

Sources:
16Gene Ontology
See all sources

Cellular components related to Piebaldism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule plus endGO:0353719.8MYO5A, MLPH
2melanosomeGO:0424709.2RAB27A, MYO5A, MLPH

Biological processes related to Piebaldism according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase C activityGO:01086310.2KIT, PDGFRA
2germ cell programmed cell deathGO:03523410.1KIT, KITLG
3pigmentationGO:04347310.0SNAI2, KIT
4cell chemotaxisGO:06032610.0KIT, PDGFRA
5embryonic hemopoiesisGO:03516210.0KIT, KITLG
6melanosome transportGO:03240210.0RAB27A, MYO5A
7phosphatidylinositol-mediated signalingGO:0480159.7PDGFRA, KITLG, KIT
8positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.7TEK, KIT, PDGFRA
9positive regulation of phosphatidylinositol 3-kinase cascadeGO:0140689.7PDGFRA, KIT, TEK
10peptidyl-tyrosine phosphorylationGO:0181089.7PDGFRA, KIT, TEK
11epidermal growth factor receptor signaling pathwayGO:0071739.6KIT, KITLG, PDGFRA
12fibroblast growth factor receptor signaling pathwayGO:0085439.5PDGFRA, KITLG, KIT
13neural crest cell migrationGO:0017559.5EDNRB, KITLG, PAX3
14protein autophosphorylationGO:0467779.4TEK, KIT, PDGFRA
15Fc-epsilon receptor signaling pathwayGO:0380959.3KIT, KITLG, PDGFRA
16positive regulation of cell proliferationGO:0082848.8PAX3, KIT, CLEC11A, EDNRB, PDGFRA
17melanocyte differentiationGO:0303187.8RAB27A, EDNRB, MLPH, MYO5A, MITF, HPS1

Molecular functions related to Piebaldism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin V bindingGO:0314899.6RAB27A, MLPH
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.6PAX3, MITF, SNAI2
3transmembrane receptor protein tyrosine kinase activityGO:0047149.3TEK, KIT, PDGFRA

Products for genes affiliated with Piebaldism

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Piebaldism

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet