PBT
MCID: PBL001
MIFTS: 57

Piebaldism (PBT) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases

Aliases & Classifications for Piebaldism

Aliases & Descriptions for Piebaldism:

Name: Piebaldism 54 12 50 25 56 66 29 13 52 42 14 69
Piebald Trait 54 12 25 66
Pbt 50 25 66
Partial Albinism 12 29
Albinoidism, Oculocutaneous, Autosomal Dominant 69

Characteristics:

Orphanet epidemiological data:

56
piebaldism
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
piebaldism:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 172800
Disease Ontology 12 DOID:3263
ICD10 33 E70.39
MeSH 42 D016116
NCIt 47 C85009
SNOMED-CT 64 6479008
Orphanet 56 ORPHA2884
MESH via Orphanet 43 D016116
ICD10 via Orphanet 34 E70.3
UMLS via Orphanet 70 C0080024
MedGen 40 C0080024
UMLS 69 C0080024

Summaries for Piebaldism

NIH Rare Diseases : 50 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 piebald trait, kit-related and piebald trait with neurologic defects, and has symptoms including ataxia, macule and intellectual disability. An important gene associated with Piebaldism is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are PAK Pathway and Pathways in cancer. The drugs Tretinoin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are behavior/neurological and growth/size/body region

Genetics Home Reference : 25 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 : 54 Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas... (172800) more...

UniProtKB/Swiss-Prot : 66 Piebald trait: Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.

Wikipedia : 71 Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common characteristics... more...

Related Diseases for Piebaldism

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

(show top 50) (show all 76)
id Related Disease Score Top Affiliating Genes
1 piebald trait, kit-related 11.8
2 piebald trait with neurologic defects 11.8
3 piebald trait, snai2-related 11.8
4 griscelli syndrome, type 2 11.5
5 griscelli syndrome 11.4
6 griscelli syndrome, type 1 11.0
7 albinism-deafness syndrome 10.9
8 immunodeficiency due to defect in mapbp-interacting protein 10.8
9 telfer sugar jaeger syndrome 10.8
10 glomus tumor 10.3 KIT MITF
11 invasive mole 10.3 KIT PDGFRA
12 ganglioneuroma 10.3 KIT PDGFRA
13 dfnb1 10.3 KIT PDGFRA
14 verrucous papilloma 10.3 KIT MITF
15 kahrizi syndrome 10.3 KIT PDGFRA
16 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.3 KIT PDGFRA
17 malignant epithelial mesothelioma 10.3 KIT PDGFRA
18 larynx leiomyosarcoma 10.2 KIT PDGFRA
19 rectum leiomyoma 10.2 KIT PDGFRA
20 pustulosis palmaris et plantaris 10.2 KIT PDGFRA
21 cerebral arterial disease 10.2 KIT PDGFRA
22 lung mucoepidermoid carcinoma 10.2 KIT MITF
23 fragile x-associated tremor/ataxia syndrome 10.2 KIT PDGFRA
24 intracranial sinus thrombosis 10.2 KIT KITLG
25 waardenburg syndrome, type 3 10.2 MITF PAX3
26 kidney clear cell sarcoma 10.2 KIT PDGFRA
27 hemangioma of peripheral nerve 10.2 KIT KITLG
28 hyperandrogenism due to cortisone reductase deficiency 10.2 KIT PDGFRA
29 cough variant asthma 10.2 KIT KITLG
30 factitious disorder 10.2 KIT MITF
31 fibrosarcoma 10.2 KIT PDGFRA
32 kidney rhabdoid cancer 10.2 KIT KITLG
33 small intestinal sarcoma 10.2 KIT PDGFRA
34 neurofibromatosis 10.1
35 cervical adenofibroma 10.1 MITF PAX3 SNAI2
36 seborrheic dermatitis 10.1 KIT PDGFRA SPRED1
37 congenital disorder of glycosylation, type iq 10.1 KIT MITF
38 charcot-marie-tooth neuropathy, x-linked recessive, 2 10.1 KITLG MITF SNAI2
39 epidermolysis bullosa simplex, recessive 1 10.1 KIT KITLG MITF
40 tooth agenesis, selective, 5 10.1 KIT MITF PAX3
41 olfactory nerve disease 10.1 KIT KITLG PDGFRA
42 may-thurner syndrome 10.1 KIT KITLG PDGFRA
43 temporomandibular ankylosis 10.1 KIT KITLG PDGFRA
44 acute dacryoadenitis 10.1 KIT KITLG PDGFRA
45 erythrocytosis, somatic 10.1 KIT KITLG PDGFRA
46 high grade b-cell lymphoma with rearrangements of myc and bcl2 and/or bcl6 10.1 KIT KITLG SPRED1
47 priapism 10.1 KIT KITLG
48 actinobacillosis 10.1 KIT KITLG PDGFRA
49 syndromic x-linked intellectual disability 10.1 KIT KITLG SPRED1
50 gastrointestinal stromal tumor 10.1 KIT KITLG PDGFRA

Graphical network of the top 20 diseases related to Piebaldism:



Diseases related to Piebaldism

Symptoms & Phenotypes for Piebaldism

Symptoms by clinical synopsis from OMIM:

172800

Clinical features from OMIM:

172800

Human phenotypes related to Piebaldism:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Occasional (29-5%) HP:0001251
2 macule 56 32 Frequent (79-30%) HP:0012733
3 intellectual disability 56 32 Occasional (29-5%) HP:0001249
4 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
5 hearing impairment 56 32 Occasional (29-5%) HP:0000365
6 wide nasal bridge 56 32 Occasional (29-5%) HP:0000431
7 microcephaly 56 32 Occasional (29-5%) HP:0000252
8 long philtrum 56 32 Occasional (29-5%) HP:0000343
9 hypopigmented skin patches 56 32 Frequent (79-30%) HP:0001053
10 heterochromia iridis 56 32 Occasional (29-5%) HP:0001100
11 aganglionic megacolon 56 32 Occasional (29-5%) HP:0002251
12 neoplasm of the skin 56 32 Occasional (29-5%) HP:0008069
13 white forelock 56 32 Very frequent (99-80%) HP:0002211
14 synophrys 56 32 Occasional (29-5%) HP:0000664
15 piebaldism 56 32 Very frequent (99-80%) HP:0007544
16 abnormality of calvarial morphology 56 32 Occasional (29-5%) HP:0002648
17 neoplasm 32 HP:0002664
18 hypopigmentation of hair 56 Very frequent (99-80%)
19 partial albinism 32 HP:0007443
20 abnormality of the ear 32 HP:0000598
21 absent pigmentation of the ventral chest 32 HP:0007542

MGI Mouse Phenotypes related to Piebaldism:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 KIT MITF MYO5A PAX3 PDGFRA RAB27A
2 growth/size/body region MP:0005378 10.16 MYO5A PAX3 PDGFRA RAB27A SNAI2 SPRED1
3 craniofacial MP:0005382 10.15 MITF MYO5A PAX3 PDGFRA SNAI2 SPRED1
4 hematopoietic system MP:0005397 10.13 PDGFRA RAB27A SNAI2 SPRED1 KIT KITLG
5 immune system MP:0005387 10.13 KIT KITLG MITF MLPH MYO5A PAX3
6 endocrine/exocrine gland MP:0005379 10.07 KIT KITLG MITF PAX3 PDGFRA RAB27A
7 homeostasis/metabolism MP:0005376 10.06 KIT KITLG MITF MLPH PAX3 PDGFRA
8 integument MP:0010771 10.06 KIT KITLG MITF MLPH MYO5A PAX3
9 embryo MP:0005380 10.01 MITF PAX3 PDGFRA SNAI2 KIT KITLG
10 nervous system MP:0003631 9.97 KIT KITLG MITF MYO5A PAX3 PDGFRA
11 limbs/digits/tail MP:0005371 9.91 KIT KITLG MITF MYO5A PAX3 PDGFRA
12 pigmentation MP:0001186 9.91 KIT KITLG MITF MLPH MYO5A PAX3
13 hearing/vestibular/ear MP:0005377 9.89 KIT KITLG MITF MYO5A PAX3
14 reproductive system MP:0005389 9.63 KIT KITLG MITF PDGFRA RAB27A SNAI2
15 skeleton MP:0005390 9.43 KIT KITLG MITF PAX3 PDGFRA SNAI2
16 vision/eye MP:0005391 9.23 MYO5A PAX3 RAB27A SNAI2 KIT KITLG

Drugs & Therapeutics for Piebaldism

Drugs for Piebaldism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538
2 Pharmaceutical Solutions Phase 4
3
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741 24759
4 Adjuvants, Immunologic Phase 3
5 Viscosupplements Phase 3
6 Protective Agents Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Unknown status NCT01640678 Phase 4
2 Punchgrafting Techniques for Vitiligo Unknown status NCT01377077 Phase 4
3 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Completed NCT02458417 Phase 4
4 A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism) Recruiting NCT02156427 Phase 3
5 Screening Protocol for Genetic Diseases of Mast Cell Homeostasis and Activation Recruiting NCT00852943
6 Natural History of Diseases Associated With Allergic Inflammation: Atopic Dermatitis and Genetic and Congenital Diseases Associated With Atopic Pathways Recruiting NCT01164241
7 ReNovaCell in Non-segmental Vitiligo Enrolling by invitation NCT03022019

Search NIH Clinical Center for Piebaldism

Cochrane evidence based reviews: piebaldism

Genetic Tests for Piebaldism

Genetic tests related to Piebaldism:

id Genetic test Affiliating Genes
1 Partial Albinism 29
2 Piebaldism 29

Anatomical Context for Piebaldism

MalaCards organs/tissues related to Piebaldism:

39
Skin, Eye

Publications for Piebaldism

Articles related to Piebaldism:

(show top 50) (show all 120)
id Title Authors Year
1
Autologous cell suspension grafting in segmental vitiligo and piebaldism: a randomised controlled trial comparing full-surface and fractional CO2 laser recipient site preparations. ( 28403523 )
2017
2
A case of piebaldism in a two-year-old female infant. ( 27068599 )
2016
3
Piebaldism in History-"The Zebra People". ( 27829108 )
2016
4
Use of Epidermal Grafting for Treatment of Depigmented Skin in Piebaldism. ( 27399941 )
2016
5
Piebaldism in children. ( 26919497 )
2016
6
[Identification of a novel KIT mutation in a Chinese family affected with piebaldism]. ( 27577211 )
2016
7
Optimising size and depth of punch grafts in autologous transplantation of vitiligo and piebaldism: a randomised controlled trial. ( 27309418 )
2016
8
Autologous cell suspension transplantation using a cell extraction device in segmental vitiligo and piebaldism patients: A randomized controlled pilot study. ( 26089056 )
2015
9
Spontaneous repigmentation in an infant with piebaldism. ( 25773601 )
2015
10
A novel missense KIT mutation causing piebaldism in one Chinese family associated with cafAc-au-lait macules and intertriginous freckling. ( 25960657 )
2015
11
Molecular characterization of piebaldism in a Tunisian family. ( 25910686 )
2015
12
Piebaldism. ( 25991872 )
2015
13
SNAI2 mutation causes human piebaldism. ( 24443330 )
2014
14
Piebaldism in a 3-month-old infant--case report. ( 24961053 )
2014
15
A novel mutation of KIT gene results in piebaldism in a Chinese family. ( 25199540 )
2014
16
Piebaldism with non-intertriginous freckles: what does it mean? ( 24685861 )
2014
17
4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency. ( 25355368 )
2014
18
Piebaldism with neurofibromatosis type I: a familial case. ( 24882989 )
2014
19
Genetic background of nonmutant Piebald-Virol-Glaxo rats does not influence nephronophthisis phenotypes. ( 23549608 )
2013
20
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
21
A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family. ( 24000325 )
2013
22
Piebaldism. ( 22670867 )
2013
23
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
24
[Identification of novel KIT gene mutations in two Chinese families with piebaldism]. ( 23926000 )
2013
25
A novel KIT frame-shift mutation in a large Chinese family with variably severe phenotypes of piebaldism. ( 23083126 )
2013
26
A novel mutation of the KIT gene in a Chinese family with piebaldism. ( 23786947 )
2013
27
Piebaldism and neurofibromatosis: state of knowledge. ( 23374959 )
2013
28
Glycogen storage disease 1a with piebaldism. ( 22484741 )
2012
29
CafAc-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome. ( 22438235 )
2012
30
Haplotype variability in the bovine MITF gene and association with piebaldism in Holstein and Simmental cattle breeds. ( 22486495 )
2012
31
Molecular characterization of two novel KIT mutations in patients with piebaldism. ( 22264755 )
2012
32
Piebaldism: A brief report and review of the literature. ( 23130293 )
2012
33
Two children with a mild or moderate piebaldism phenotype and a father without leukoderma in a family with the same recurrent missense mutation in the kinase domain of KIT. ( 21680281 )
2011
34
Piebaldism in a 2-year-old girl. ( 21382296 )
2011
35
Piebaldism. ( 21918288 )
2011
36
Letter: Misdiagnosis of "neurofibromatosis" in patients with piebaldism. ( 22136869 )
2011
37
In vivo and in vitro evidence for epidermal H2O2-mediated oxidative stress in piebaldism. ( 19758321 )
2010
38
Long term results of non cultured epidermal cellular grafting in vitiligo, halo nevi, piebaldism and nevus depigmentosus. ( 20560951 )
2010
39
Simplified cellular grafting for treatment of vitiligo and piebaldism: the "6-well plate" technique. ( 20039922 )
2010
40
A novel mutation in the kinase domain of KIT in an Indian family with a mild piebaldism phenotype. ( 20688482 )
2010
41
Piebaldism and neurofibromatosis type 1: family report. ( 20137753 )
2010
42
Melanocyte transplant in piebaldism: case report. ( 20676476 )
2010
43
Long-term results of noncultured epidermal cellular grafting in vitiligo, halo naevi, piebaldism and naevus depigmentosus. ( 20804490 )
2010
44
A novel KIT missense mutation in one Chinese family with piebaldism. ( 19430803 )
2009
45
Familial case of piebaldism with regression of white forelock. ( 18355360 )
2008
46
Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts. ( 17124503 )
2007
47
Piebaldism: a case report and a concise review of the literature. ( 18189028 )
2007
48
Mice transgenic for Kit(V620A): recapitulation of piebaldism but not progressive depigmentation seen in humans with this mutation. ( 16456533 )
2006
49
New mutations of KIT gene in two Chinese patients with piebaldism. ( 17107413 )
2006
50
Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism. ( 15737214 )
2005

Variations for Piebaldism

UniProtKB/Swiss-Prot genetic disease variations for Piebaldism:

66
id Symbol AA change Variation ID SNP ID
1 KIT p.Glu583Lys VAR_004104 rs121913680
2 KIT p.Phe584Leu VAR_004105 rs794726671
3 KIT p.Gly664Arg VAR_004106 rs121913679
4 KIT p.Arg791Gly VAR_004107
5 KIT p.Gly812Val VAR_004108
6 KIT p.Phe584Cys VAR_033129 rs28933371
7 KIT p.Gly601Arg VAR_033130
8 KIT p.Leu656Pro VAR_033131
9 KIT p.Arg796Gly VAR_033132 rs121913684
10 KIT p.Thr847Pro VAR_033137 rs121913687

ClinVar genetic disease variations for Piebaldism:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 SNAI2 NG_012130.1: g.(?_5165)_(7623_?)del deletion Pathogenic GRCh37 Chromosome 8, 49831366: 49833824
2 SNAI2 NG_012130.1: g.(?_5165)_(7623_?)del deletion Pathogenic GRCh37 Chromosome 8, 49831366: 49833824
3 KIT NM_000222.2(KIT): c.1879+1G> A single nucleotide variant Pathogenic rs794726675 GRCh37 Chromosome 4, 55594094: 55594094
4 KIT NM_000222.2(KIT): c.1990G> A (p.Gly664Arg) single nucleotide variant Pathogenic rs121913679 GRCh37 Chromosome 4, 55594287: 55594287
5 KIT KIT, DEL deletion Pathogenic
6 KIT NM_000222.2(KIT): c.1752T> G (p.Phe584Leu) single nucleotide variant Pathogenic rs794726671 GRCh37 Chromosome 4, 55593686: 55593686
7 KIT NM_000222.2(KIT): c.1925_1926delAA (p.Lys642Serfs) deletion Pathogenic rs794726672 GRCh37 Chromosome 4, 55594222: 55594223
8 KIT NM_000222.2(KIT): c.1681dupG (p.Glu561Glyfs) duplication Pathogenic rs794726673 GRCh37 Chromosome 4, 55593615: 55593615
9 KIT NM_000222.2(KIT): c.1747G> A (p.Glu583Lys) single nucleotide variant Pathogenic rs121913680 GRCh37 Chromosome 4, 55593681: 55593681
10 KIT NM_000222.2(KIT): c.253delG (p.Glu85Lysfs) deletion Pathogenic rs794726674 GRCh37 Chromosome 4, 55561863: 55561863
11 KIT NM_000222.2(KIT): c.2539A> C (p.Thr847Pro) single nucleotide variant Pathogenic rs121913687 GRCh37 Chromosome 4, 55602718: 55602718
12 KIT NM_000222.2(KIT): c.1751T> G (p.Phe584Cys) single nucleotide variant Pathogenic rs28933371 GRCh37 Chromosome 4, 55593685: 55593685

Expression for Piebaldism

Search GEO for disease gene expression data for Piebaldism.

Pathways for Piebaldism

GO Terms for Piebaldism

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.95 MITF PAX3 PDGFRA SNAI2 SPRED1
2 positive regulation of cell proliferation GO:0008284 9.83 CLEC11A KIT KITLG PDGFRA
3 positive regulation of cell migration GO:0030335 9.71 KIT PDGFRA SNAI2
4 phosphatidylinositol-mediated signaling GO:0048015 9.63 KIT KITLG PDGFRA
5 phosphatidylinositol phosphorylation GO:0046854 9.61 KIT KITLG PDGFRA
6 ovarian follicle development GO:0001541 9.58 KIT KITLG
7 positive regulation of DNA replication GO:0045740 9.58 KITLG PDGFRA
8 response to radiation GO:0009314 9.57 KIT SNAI2
9 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.56 KIT PDGFRA
10 MAPK cascade GO:0000165 9.56 KIT KITLG PDGFRA SPRED1
11 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.54 KIT KITLG PDGFRA
12 melanosome transport GO:0032402 9.51 MYO5A RAB27A
13 embryonic hemopoiesis GO:0035162 9.49 KIT KITLG
14 developmental pigmentation GO:0048066 9.48 KIT MYO5A
15 positive regulation of phospholipase C activity GO:0010863 9.4 KIT PDGFRA
16 ectopic germ cell programmed cell death GO:0035234 9.32 KIT KITLG
17 melanocyte differentiation GO:0030318 9.26 KIT MITF MYO5A RAB27A
18 melanosome localization GO:0032400 9.16 MYO5A RAB27A
19 pigmentation GO:0043473 9.02 KIT MITF MYO5A RAB27A SNAI2

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

id Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.33 KIT KITLG PDGFRA
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 KIT KITLG PDGFRA
3 stem cell factor receptor binding GO:0005173 8.62 KITLG SPRED1

Sources for Piebaldism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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