MCID: PBL001
MIFTS: 56

Piebaldism malady

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

Aliases & Classifications for Piebaldism

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Piebaldism:

Name: Piebaldism 50 11 46 24 13 52 68 25 12 48 37 66
Piebald Trait 50 11 24 68
Pbt 46 24 68
 
Partial Albinism 11 25
Albinoidism, Oculocutaneous, Autosomal Dominant 66

Characteristics:

Orphanet epidemiological data:

52
piebaldism:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

62
piebaldism:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 172800
Disease Ontology11 DOID:3263
ICD1028 E70.39
MeSH37 D016116
NCIt43 C85009
SNOMED-CT60 6479008
Orphanet52 ORPHA2884
ICD10 via Orphanet29 E70.3
MESH via Orphanet38 D016116
UMLS via Orphanet67 C0080024
MedGen35 C0080024

Summaries for Piebaldism

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NIH Rare Diseases:46 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 hypopigmented skin patches, white forelock and hypermelanotic macule. An important gene associated with Piebaldism is SNAI2 (Snail Family Transcriptional Repressor 2), and among its related pathways are Regulation of KIT signaling and Neural Crest Differentiation. Affiliated tissues include skin and eye, and related mouse phenotypes are digestive/alimentary and respiratory system.

UniProtKB/Swiss-Prot:68 Piebald trait: Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.

Genetics Home Reference:24 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:50 Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas... (172800) more...

Wikipedia:69 Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common characteristics... more...

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 83)
idRelated DiseaseScoreTop Affiliating Genes
1piebald trait, kit-related12.0
2piebald trait with neurologic defects11.9
3piebald trait, snai2-related11.9
4griscelli syndrome11.5
5griscelli syndrome, type 211.3
6griscelli syndrome, type 111.1
7telfer sugar jaeger syndrome10.9
8skin glomus tumor10.6KIT, MITF
9hypervitaminosis a10.6KIT, MITF
10relapsing epidemic typhus10.6KIT, PDGFRA
11leukemoid reaction10.6KIT, MITF
12male reproductive system disease10.6KIT, PDGFRA
13vagina leiomyosarcoma10.6KIT, PDGFRA
14congenital disorder of glycosylation, type iq10.6KIT, PDGFRA
15malignant biphasic mesothelioma10.6KIT, PDGFRA
16lateral medullary syndrome10.6KIT, PDGFRA
17prostate small cell carcinoma10.6KIT, PDGFRA
18parotid gland adenoid cystic carcinoma10.6KIT, MITF
19pura syndrome10.6KIT, PDGFRA
20mercaptolactate-cysteine disulfiduria10.6KIT, PDGFRA
21epithelioid leiomyosarcoma10.5KIT, PDGFRA
22pancreatic agenesis10.5KIT, PDGFRA
23ovarian small cell carcinoma10.5KIT, SNAI2
24t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta10.5KIT, PDGFRA
25ocular melanoma10.5KIT, MITF
26malignant fibrous histiocytoma of bone10.5KIT, PDGFRA
27hypereosinophilic syndrome, idiopathic, resistant to imatinib10.5KIT, MITF
28waardenburg syndrome, type 110.5MITF, PAX3
29corneal granular dystrophy10.5KIT, KITLG
30pericoronitis10.5KIT, KITLG
31movement disease10.5KIT, KITLG
32albinism immunodeficiency10.5
33cutaneous solitary mastocytoma10.5KIT, KITLG
34multidrug-resistant tuberculosis10.4KIT, PDGFRA
35epithelioid type angiomyolipoma10.4KIT, MITF
36caroli disease10.4KIT, PDGFRA
37hyperaldosteronism10.4MITF, PAX3
38nasopharynx carcinoma10.4KIT, KITLG
39asrar facharzt haque syndrome10.4KIT, KITLG
40central nervous system rhabdomyosarcoma10.3KIT, PAX3
41localized osteosarcoma10.3KIT, PDGFRA
42pulmonary immaturity10.3KIT, MITF
43neurofibromatosis10.3
44desmoplastic infantile astrocytoma10.3KIT, PDGFRA
45conjunctival cancer10.2MITF, PAX3, SNAI2
46autosomal recessive non-syndromic intellectual disability10.2KIT, KITLG, SPRED1
47non-congenital cyst of kidney10.2KITLG, MITF
48heavy chain disease10.2KIT, MITF
49charcot-marie-tooth neuropathy, x-linked recessive, 210.2KITLG, MITF, SNAI2
50diffuse cutaneous mastocytosis10.2KIT, KITLG, PDGFRA

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:

 52 (show all 17)
  • microcephaly
  • long philtrum
  • hearing impairment
  • wide nasal bridge
  • synophrys
  • hypopigmented skin patches
  • heterochromia iridis
  • intellectual disability
  • ataxia
  • muscular hypotonia
  • white forelock
  • aganglionic megacolon
  • abnormality of calvarial morphology
  • hypopigmentation of hair
  • piebaldism
  • neoplasm of the skin
  • macule

HPO human phenotypes related to Piebaldism:

(show all 23)
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 abnormality of the ear HP:0000598
17 heterochromia iridis HP:0001100
18 white forelock HP:0002211
19 aganglionic megacolon HP:0002251
20 neoplasm HP:0002664
21 partial albinism HP:0007443
22 absent pigmentation of the ventral chest HP:0007542
23 piebaldism HP:0007544

Drugs & Therapeutics for Piebaldism

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
TretinoinPhase 4218302-79-45538
Synonyms:
(all-e)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
.beta.-Retinoic acid
13497-05-7 (hydrochloride salt)
15-Apo-beta-caroten-15-oic acid
187175-63-9
1n4h
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoic acid (ecl)
302-79-4
5300-03-8
56573-65-0
7005-78-9
9(Z)-Retinoic acid
9-cis-RA
A-Acido (Argentina)
A-Vitaminsyre
A-Vitaminsyre [Denmark]
AC-6824
AC1L9GWO
AC1Q1J2J
AGN 100335
AGN 192013
AKOS000280845
ALRT 1057
AT-RA
ATRA
Aberel
Aberela
Aberela [Norway]
Accutane Roche
Acid A Vit (Belgium, Netherlands)
Acid, Retinoic
Acid, Vitamin A
Acid, all-trans-Retinoic
Acid, beta-all-trans-Retinoic
Acid, trans-Retinoic
Acide retinoique (French) (DSL)
Acide retinoique (french) (dsl)
Acnavit
Acnavit [Denmark]
Airol
Aknefug
Aknoten
Alitretinoin
All Trans Retinoic Acid
All Trans-Retinoic Acid
All-trans Retinoic Acid
Alltrans-retinoic acid
Amnesteem
Atra-IV
Atragen
Atralin
Avita (TN)
Avita Gel
Avitoin
Avitoin [Norway]
BAL4079
BIDD:GT0483
BIDD:PXR0081
BML2-E05
BPBio1_000082
BRN 2057223
BSPBio_000074
BSPBio_001500
Betarretin
C00777
CCRIS 3294
CCRIS 7098
CHEBI:15367
CHEMBL38
CID444795
CPD000058245
Claravis
Cordes VAS [Germany]
Cordes vas
D00094
D014212
DB00523
DB00755
DB00982
Dermairol
EINECS 206-129-0
EU-0101061
Effederm
Effederm [France]
Epi-aberel
Eudyna
HMS1361K22
HMS1568D16
HMS1791K22
HMS1921D14
HMS1989K22
HMS2089D20
HMS2092N11
HMS502N05
HSDB 2169
HSDB 7186
I04-0008
I14-2351
IDI1_000903
IDI1_033970
Isotretinoin Retinoic acid
L000833
LGD 100057
LMPR01090019
LS-1154
Lopac0_001061
Lsotretinoin
MLS000028588
MLS001076515
MLS002207234
MLS002222211
MolPort-000-883-857
NCGC00017280-06
NCGC00017280-17
NCGC00021808-04
 
NCGC00021808-05
NCGC00021808-06
NCGC00021808-07
NCGC00021808-09
NCGC00021808-14
NCGC00021808-15
NSC 122758
NSC-122758
NSC122758
Nexret
PDT-002-002
Panretin Gel
Panretyn
Potassium Salt, Tretinoin
Prestwick2_000257
Prestwick3_000257
Prestwick_424
R 2625
R0064
R2625_SIGMA
REA
RETINOIC ACID, ALL TRANS
RETINOIC acid
Renova
Renova (TN)
Retacnyl
Retin A
Retin A (TN)
Retin-A
Retin-A Micro
Retin-a
Retinoate
Retinoic acid
Retinoic acid, all-trans- (8CI)
Retinova
Retionic Acid
Retionic acid
Retisol-A
Retisol-a
Ro 1-5488
S1653_Selleck
SAM002264647
SMR000058245
SPECTRUM1502016
SR-01000000239
SR-01000000239-14
ST057075
Salt, Tretinoin Potassium
Salt, Tretinoin Sodium
Salt, Tretinoin Zinc
Sodium Salt, Tretinoin
Solage
Sotret
Spectrum5_001746
Spectrum5_001933
Stieva-A
Stieva-a
Stieva-a Forte
TRETINON
Tretin M
Tretin m
Tretinoin
Tretinoin (JAN/USP/INN)
Tretinoin (TN)
Tretinoin 0.1% cream or placebo
Tretinoin Potassium Salt
Tretinoin Sodium Salt
Tretinoin Zinc Salt
Tretinoin [USAN:INN:BAN]
Tretinoin/All-Trans Retinoic Acid
Tretinoina
Tretinoina [INN-Spanish]
Tretinoine
Tretinoine (french) (einecs)
Tretinoine [INN-French]
Tretinoino
Tretinoino [INN-Spanish]
Tretinoinum
Tretinoinum [INN-Latin]
Tri-Luma
Trétinoïne
UNII-1UA8E65KDZ
UNII-5688UTC01R
UPCMLD-DP097
Vesanoid
Vesanoid (TN)
Vesanoid, Airol, Renova, Atralin, Retin-A, Avita, Tretinoin
Vesnaroid
Vitamin A acid
Vitinoin
WLN: L6UTJ A1 B1U1Y1 & U2U1Y1 & U1VQ C1 C1
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U1VQ C1 C1
Zinc Salt, Tretinoin
[3H]Retinoic acid
all trans-Retinoic acid
all-(E)-Retinoic acid
all-(e)-Retinoic acid
all-trans-Retinoic acid
all-trans-Tretinoin
all-trans-Vitamin A acid
all-trans-Vitamin A1 acid
all-trans-Vitamin a acid
all-trans-Vitamin a1 acid
all-trans-b-Retinoic acid
all-trans-beta-Retinoic acid
b-Retinoic acid
beta all trans Retinoic Acid
beta-Ra
beta-Retinoic Acid
beta-Retinoic acid
beta-all-trans-Retinoic acid
bmse000562
nchembio.154-comp2
trans Retinoic Acid
trans-Retinoic acid
tretinoin
tretinoin liposome
tretinoine (French) (EINECS)
2
Hyaluronic acidPhase 34199004-61-953477741, 24759
Synonyms:
Hyaluronan
Hyaluronate
Hyaluronic acid
Hylartil
Hyruan Plus
Luronit
 
Macronan
Mucoitin
Nutra-HAF
Q 5AQ
Sepracoat
Sepragel Sinus
Sofast
Synvisc

Interventional clinical trials:

idNameStatusNCT IDPhase
1Punchgrafting Techniques for VitiligoRecruitingNCT01377077Phase 4
2Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism PatientsActive, not recruitingNCT01640678Phase 4
3Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism PatientsEnrolling by invitationNCT02458417Phase 4
4A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism)RecruitingNCT02156427Phase 3
5Screening Protocol for Genetic Diseases of Mast Cell Homeostasis and ActivationRecruitingNCT00852943
6Natural History of Diseases Associated With Allergic Inflammation: Atopic Dermatitis and Genetic and Congenital Diseases Associated With Atopic PathwaysRecruitingNCT01164241

Search NIH Clinical Center for Piebaldism


Cochrane evidence based reviews: piebaldism

Genetic Tests for Piebaldism

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Genetic tests related to Piebaldism:

id Genetic test Affiliating Genes
1 Partial Albinism25
2 Piebaldism25

Anatomical Context for Piebaldism

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MalaCards organs/tissues related to Piebaldism:

34
Skin, Eye

Animal Models for Piebaldism or affiliated genes

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MGI Mouse Phenotypes related to Piebaldism:

39 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.0KIT, KITLG, PAX3, PDGFRA, SNAI2
2MP:00053888.9KIT, PAX3, PDGFRA, RAB27A, SPRED1
3MP:00053808.7KIT, KITLG, MITF, PAX3, PDGFRA, SNAI2
4MP:00053778.7KIT, KITLG, MITF, MYO5A, PAX3
5MP:00053898.6KIT, KITLG, MITF, PDGFRA, RAB27A, SNAI2
6MP:00053908.4KIT, KITLG, MITF, PAX3, PDGFRA, SNAI2
7MP:00053798.0KIT, KITLG, MITF, PAX3, PDGFRA, RAB27A
8MP:00053827.6KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
9MP:00053767.2KIT, KITLG, MITF, MLPH, PAX3, PDGFRA
10MP:00053717.1KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
11MP:00053867.1KIT, MITF, MYO5A, PAX3, PDGFRA, RAB27A
12MP:00053977.0KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
13MP:00107716.9KIT, KITLG, MITF, MLPH, MYO5A, PAX3
14MP:00011866.9KIT, KITLG, MITF, MLPH, MYO5A, PAX3
15MP:00053916.9KIT, KITLG, MITF, MLPH, MYO5A, PAX3
16MP:00036316.8KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
17MP:00053786.7KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
18MP:00053876.5KIT, KITLG, MITF, MLPH, MYO5A, PAX3

Publications for Piebaldism

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Articles related to Piebaldism:

(show top 50)    (show all 117)
idTitleAuthorsYear
1
A case of piebaldism in a two-year-old female infant. (27068599)
2016
2
A novel missense KIT mutation causing piebaldism in one Chinese family associated with cafAc-au-lait macules and intertriginous freckling. (25960657)
2015
3
Spontaneous repigmentation in an infant with piebaldism. (25773601)
2015
4
Piebaldism with non-intertriginous freckles: what does it mean? (24685861)
2014
5
A novel mutation of KIT gene results in piebaldism in a Chinese family. (25199540)
2014
6
Piebaldism in a 3-month-old infant--case report. (24961053)
2014
7
4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency. (25355368)
2014
8
A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family. (24000325)
2013
9
A novel mutation of the KIT gene in a Chinese family with piebaldism. (23786947)
2013
10
Piebaldism. (22670867)
2013
11
Glycogen storage disease 1a with piebaldism. (22484741)
2012
12
Piebaldism. (21918288)
2011
13
Long term results of non cultured epidermal cellular grafting in vitiligo, halo nevi, piebaldism and nevus depigmentosus. (20560951)
2010
14
Piebaldism and neurofibromatosis type 1: family report. (20137753)
2010
15
Melanocyte transplant in piebaldism: case report. (20676476)
2010
16
A novel KIT missense mutation in one Chinese family with piebaldism. (19430803)
2009
17
Familial case of piebaldism with regression of white forelock. (18355360)
2008
18
Piebaldism: a case report and a concise review of the literature. (18189028)
2007
19
Piebaldism: an update. (15485525)
2004
20
Mastocytosis or piebaldism--the KIT mutation decides]. (15055122)
2004
21
Piebaldism and neurofibromatosis type 1: horses of very different colors. (15009761)
2004
22
Permanent repigmentation of piebaldism by erbium:YAG laser and autologous cultured epidermis. (15099368)
2004
23
Deletion of the SLUG (SNAI2) gene results in human piebaldism. (12955764)
2003
24
Autologous punch grafting for repigmentation in piebaldism. (14684948)
2003
25
Piebaldism in diamond-blackfan anaemia: a new phenotype? (12406103)
2002
26
Human piebaldism: six novel mutations of the proto-oncogene KIT. (12204004)
2002
27
Grover disease (transient acantholytic dermatosis) and piebaldism. (12078847)
2002
28
Association of piebaldism and neurofibromatosis type 1 in a girl. (11841634)
2001
29
Three novel mutations of the proto-oncogene KIT cause human piebaldism. (11074500)
2000
30
A novel KIT gene missense mutation in a Japanese family with piebaldism. (9699740)
1998
31
Repigmentation of leucodermic defects in piebaldism by dermabrasion and thin split-thickness skin grafting in combination with minigrafting. (9892949)
1998
32
Impaired growth and differentiation of diploid but not immortal melanoblasts from endothelin receptor B mutant (piebald) mice. (9853966)
1998
33
Piebaldism--a case report. (8843015)
1996
34
Graft-versus-host reaction affecting lesional skin but not normal skin in a patient with piebaldism. (8745900)
1996
35
Surgical combination therapy for vitiligo and piebaldism. (7551740)
1995
36
Expression of the c-kit receptor in hypomelanosis: a comparative study between piebaldism, naevus depigmentosus and vitiligo. (7534102)
1995
37
Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. (7529964)
1995
38
Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. (8001159)
1994
39
Inhibition of proliferation of human melanocytes by a KIT antisense oligodeoxynucleotide: implications for human piebaldism and mouse dominant white spotting (W). (7518854)
1994
40
Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4. (8415299)
1993
41
Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. (1370874)
1992
42
Deletion of the KIT and PDGFRA genes in a patient with piebaldism. (1279971)
1992
43
Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene. (1376329)
1992
44
Effect of the c-kit codon 584 Phe----Leu substitution demonstrated in human piebaldism. (1379775)
1992
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
Piebaldism. (3345088)
1988
47
Autosomal dominant piebaldism and mental retardation syndrome associated with a t(1;2) (p22.1;q36). (3760835)
1986
48
Pigmentary correction of piebaldism by autografts. II. Pathomechanism and pigment spread in piebaldism. (383410)
1979
49
Hirschsprung's disease, aganglionic or hypoganglionic megacolon. Animal model: aganglionic megacolon in piebald and spotted mutant mouse strains. (1124798)
1975
50
Mast cells in the epidermis of piebaldism. (1115524)
1975

Variations for Piebaldism

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UniProtKB/Swiss-Prot genetic disease variations for Piebaldism:

68
id Symbol AA change Variation ID SNP ID
1KITp.Glu583LysVAR_004104rs121913680
2KITp.Phe584LeuVAR_004105rs794726671
3KITp.Gly664ArgVAR_004106rs121913679
4KITp.Arg791GlyVAR_004107
5KITp.Gly812ValVAR_004108
6KITp.Phe584CysVAR_033129rs28933371
7KITp.Gly601ArgVAR_033130
8KITp.Leu656ProVAR_033131
9KITp.Arg796GlyVAR_033132rs121913684
10KITp.Thr847ProVAR_033137rs121913687

Clinvar genetic disease variations for Piebaldism:

5 (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
3KITNM_000222.2(KIT): c.1752T> G (p.Phe584Leu)single nucleotide variantPathogenicrs794726671GRCh37Chr 4, 55593686: 55593686
4KITNM_000222.2(KIT): c.1925_1926delAA (p.Lys642Serfs)deletionPathogenicrs794726672GRCh37Chr 4, 55594222: 55594223
5KITNM_000222.2(KIT): c.1681dupG (p.Glu561Glyfs)duplicationPathogenicrs794726673GRCh37Chr 4, 55593615: 55593615
6KITNM_000222.2(KIT): c.1747G> A (p.Glu583Lys)single nucleotide variantPathogenicrs121913680GRCh37Chr 4, 55593681: 55593681
7KITNM_000222.2(KIT): c.253delG (p.Glu85Lysfs)deletionPathogenicrs794726674GRCh37Chr 4, 55561863: 55561863
8KITNM_000222.2(KIT): c.1879+1G> Asingle nucleotide variantPathogenicrs794726675GRCh37Chr 4, 55594094: 55594094
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_?)deldeletionPathogenicGRCh37Chr 8, 49831366: 49833824

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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GO Terms for genes affiliated with Piebaldism

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase C activityGO:001086310.5KIT, PDGFRA
2positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.4KIT, PDGFRA
3embryonic hemopoiesisGO:003516210.3KIT, KITLG
4response to radiationGO:000931410.3KIT, SNAI2
5ectopic germ cell programmed cell deathGO:003523410.3KIT, KITLG
6positive regulation of DNA replicationGO:00457409.9KITLG, PDGFRA
7phosphatidylinositol phosphorylationGO:00468549.9KIT, KITLG, PDGFRA
8regulation of phosphatidylinositol 3-kinase signalingGO:00140669.9KIT, KITLG, PDGFRA
9phosphatidylinositol-mediated signalingGO:00480159.8KIT, KITLG, PDGFRA
10melanosome localizationGO:00324009.7MYO5A, RAB27A
11developmental pigmentationGO:00480669.7KIT, MYO5A
12positive regulation of cell migrationGO:00303359.4KIT, PDGFRA, SNAI2
13melanosome transportGO:00324029.4MYO5A, RAB27A
14MAPK cascadeGO:00001659.1KIT, KITLG, PDGFRA, SPRED1
15melanocyte differentiationGO:00303189.0KIT, MITF, MYO5A, RAB27A
16positive regulation of cell proliferationGO:00082848.9CLEC11A, KIT, KITLG, PDGFRA
17pigmentationGO:00434738.2KIT, MYO5A, RAB27A, SNAI2

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

idNameGO IDScoreTop Affiliating Genes
1stem cell factor receptor bindingGO:000517310.1KITLG, SPRED1
2transmembrane receptor protein tyrosine kinase activityGO:00047149.5KIT, PDGFRA
3phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.5KIT, KITLG, PDGFRA
4Ras guanyl-nucleotide exchange factor activityGO:00050889.4KIT, KITLG, PDGFRA

Sources for Piebaldism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet