PBT
MCID: PBL001
MIFTS: 68

Piebaldism (PBT) malady

Eye diseases, Skin diseases categories

Summaries for Piebaldism

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: 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 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 eye, 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:63 Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common characteristics... more...

Description from OMIM:46 172800

Aliases & Classifications for Piebaldism

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 39NCIt, 34MeSH, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

piebaldism 8 9 42 21 46 10 44 48 60
partial albinism 8 22
piebald trait 8 21
pbt 42 21
albinoidism, oculocutaneous, autosomal dominant 60


External Ids:

Disease Ontology8 DOID:3263
NCIt39 C85009
OMIM46 172800
MeSH34 D016116
SNOMED-CT56 6479008
MESH via Orphanet35 D016116
ICD10 via Orphanet26 E70.3
SNOMED-CT via Orphanet57 6479008
UMLS via Orphanet61 C0080024

Related Diseases for Piebaldism

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17GeneCards, 18GeneDecks
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Diseases related to Piebaldism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis30.5PDGFRA
2vitiligo30.4MITF, KITLG
3albinism29.8HPS1
4hirschsprung's disease29.8EDNRB, MITF, PAX3
5waardenburg's syndrome29.8PAX3, MITF, SNAI2, EDNRB
6hypopigmentation of eyelid10.4
7tietz syndrome10.4
8hypomelanotic disorder10.4
9megacolon10.2
10telfer sugar jaeger syndrome10.2
11piebald trait, kit-related10.2
12griscelli syndrome type 110.2
13griscelli syndrome type 210.2
14piebald trait, snai2-related10.1
15dandy-walker syndrome10.0
16chediak-higashi syndrome10.0
17albinism immunodeficiency10.0
18silvery hair syndrome10.0
19hemophagocytic lymphohistiocytosis10.0RAB27A
20perivascular epithelioid cell tumor10.0MITF
21pancreatic cancer10.0SNAI2
22pancreatitis10.0KITLG
23myelofibrosis10.0PDGFRA
24retinoblastoma10.0MITF
25chondroma10.0PDGFRA
26oligodendroglioma10.0PDGFRA
27gastrointestinal stromal tumor, somatic10.0KIT, PDGFRA
28gastrointestinal stromal tumor10.0KIT, PDGFRA
29polycythemia10.0KITLG
30germinoma10.0KIT
31diabetic retinopathy10.0TEK
32mesenchymal cell neoplasm10.0PDGFRA, KIT
33hypereosinophilic syndrome10.0KIT, PDGFRA
34pigmentation disease10.0KIT, MITF
35carney triad10.0KIT, PDGFRA
36myeloid leukemia10.0KIT, KITLG
37uterine carcinosarcoma10.0KIT
38endometrial stromal sarcoma10.0PDGFRA, KIT
39urticaria pigmentosa10.0KITLG, KIT
40clear cell sarcoma10.0KIT, MITF
41leiomyosarcoma10.0PDGFRA, KIT
42mast-cell leukemia10.0KIT, KITLG
43neural tube defects10.0PAX3, PDGFRA
44arthritis10.0TEK
45rhabdomyosarcoma10.0PAX3, PDGFRA
46mast cell neoplasm10.0KIT, KITLG
47refractory anemia10.0KIT, KITLG
48oculocutaneous albinism10.0HPS1
49angiosarcoma10.0TEK, PDGFRA
50malignant peripheral nerve sheath tumor10.0KIT, PDGFRA

Graphical network of the top 20 diseases related to Piebaldism:



Diseases related to piebaldism

Clinical Features for Piebaldism

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46OMIM, 48Orphanet
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Clinical features from OMIM:

172800

Clinical synopsis from OMIM:

172800

Symptoms:

48 (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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Sources:
22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Piebaldism:

32
Skin, Eye

Animal Models for Piebaldism or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Piebaldism:

36 (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

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Sources:
50PubMed
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Articles related to Piebaldism:

(show top 50)    (show all 101)
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
Genetic background of nonmutant Piebald-Virol-Glaxo rats does not influence nephronophthisis phenotypes. (23549608)
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
CafAc-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome. (22438235)
2012
8
Piebaldism. (21918288)
2011
9
In vivo and in vitro evidence for epidermal H2O2-mediated oxidative stress in piebaldism. (19758321)
2010
10
A novel mutation in the kinase domain of KIT in an Indian family with a mild piebaldism phenotype. (20688482)
2010
11
Familial case of piebaldism with regression of white forelock. (18355360)
2008
12
Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts. (17124503)
2007
13
Piebaldism: a case report and a concise review of the literature. (18189028)
2007
14
Mice transgenic for Kit(V620A): recapitulation of piebaldism but not progressive depigmentation seen in humans with this mutation. (16456533)
2006
15
A novel KIT gene mutation from a family with piebaldism in the southern part of China]. (16331568)
2005
16
Piebaldism: an update. (15485525)
2004
17
Mastocytosis or piebaldism--the KIT mutation decides]. (15055122)
2004
18
Human piebaldism: six novel mutations of the proto-oncogene KIT. (12204004)
2002
19
Piebaldism associated with congenital dyserythropoietic anemia type II (HEMPAS). (11891809)
2002
20
Association of piebaldism and neurofibromatosis type 1 in a girl. (11841634)
2001
21
A novel KIT mutation results in piebaldism with progressive depigmentation. (11174389)
2001
22
Three novel mutations of the proto-oncogene KIT cause human piebaldism. (11074500)
2000
23
A novel KIT gene missense mutation in a Japanese family with piebaldism. (9699740)
1998
24
Impaired growth and differentiation of diploid but not immortal melanoblasts from endothelin receptor B mutant (piebald) mice. (9853966)
1998
25
Neurofibromatosis 1 and piebaldism: a case report. (9873189)
1998
26
Piebaldism with deafness: molecular evidence for an expanded syndrome. (9450866)
1998
27
Epidermal sheet grafts for repigmentation of vitiligo and piebaldism, with a review of surgical techniques. (9394984)
1997
28
Graft-versus-host reaction affecting lesional skin but not normal skin in a patient with piebaldism. (8745900)
1996
29
A 12-bp deletion (7818del12) in the c-kit protooncogene in a large Italian kindred with piebaldism. (8680409)
1995
30
Expression of the c-kit receptor in hypomelanosis: a comparative study between piebaldism, naevus depigmentosus and vitiligo. (7534102)
1995
31
Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. (7529964)
1995
32
Human piebaldism: relationship between phenotype and site of kit gene mutation. (7544995)
1995
33
The molecular genetics of albinism and piebaldism. (8129415)
1994
34
Molecular basis of human piebaldism. (7525736)
1994
35
Inhibition of proliferation of human melanocytes by a KIT antisense oligodeoxynucleotide: implications for human piebaldism and mouse dominant white spotting (W). (7518854)
1994
36
Rubinstein-Taybi syndrome with piebaldism. (8050153)
1994
37
Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. (7687267)
1993
38
A recurrent deletion in the KIT (mast/stem cell growth factor receptor) proto-oncogene is a frequent cause of human piebaldism. (7694728)
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
Effect of the c-kit codon 584 Phe----Leu substitution demonstrated in human piebaldism. (1379775)
1992
43
The molecular basis of human piebaldism. (1292017)
1992
44
Piebaldism, an autosomal dominant trait distinct from Waardenburg syndrome. (2260612)
1990
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
Six generations of piebaldism. (446823)
1979
48
Piebaldism. (1276057)
1976
49
Mast cells in the epidermis of piebaldism. (1115524)
1975
50
ELECTRON MICROSCOPY OF MELANOCYTES IN HUMAN PIEBALDISM. (14310308)
1965

Genetic Variations for Piebaldism

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Sources:
62UniProtKB/Swiss-Prot
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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

Expression for genes affiliated with Piebaldism

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 29KEGG, 51QIAGEN, 4Cell Signaling Technology
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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

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB
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Compounds related to Piebaldism according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1pkc 4124410.2KIT, PDGFRA
2monochloroacetic acid4410.1KIT, KITLG
3Pazopanib1110.1KIT, PDGFRA
4su54164410.1KITLG, KIT
5toluidine4410.1KITLG, KIT
6sunitinib44 49 1111.9KIT, PDGFRA
7ag-1296449.9KIT, KITLG, PDGFRA
8rhodamine 12344 4910.9KITLG, KIT
9hydroxyurea44 49 1111.8PDGFRA, KITLG, KIT
10Ponatinib 119.8TEK, KIT, PDGFRA
11Regorafenib119.7PDGFRA, KIT, TEK
12imatinib44 49 1111.5KIT, KITLG, PDGFRA
13agarose449.4EDNRB, KITLG, KIT
14thymidine44 2410.1TEK, KIT, KITLG, PDGFRA
15paraffin449.0PDGFRA, MITF, KITLG, KIT, TEK
16phosphatidylinositol448.7PDGFRA, EDNRB, KITLG, KIT, TEK
17glucose448.3FABP2, EDNRB, MYO5A, KITLG, KIT, RAB27A
18vegf448.3PDGFRA, EDNRB, CLEC11A, KITLG, KIT, TEK
19retinoic acid44 249.3PDGFRA, FABP2, EDNRB, CLEC11A, KITLG, KIT
20cysteine447.9FABP2, EDNRB, KIT, TEK, PAX3
21calcium44 49 11 2410.9PDGFRA, EDNRB, MYO5A, MITF, CLEC11A, KITLG
22tyrosine447.8PDGFRA, EDNRB, SNAI2, MITF, KITLG, KIT

GO Terms for genes affiliated with Piebaldism

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Sources:
16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Piebaldism

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet