MCID: PBL001
MIFTS: 57

Piebaldism malady

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

Aliases & Classifications for Piebaldism

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Piebaldism:

Name: Piebaldism 52 11 48 25 54 70 27 12 50 39 13 68
Piebald Trait 52 11 25 70
Pbt 48 25 70
 
Partial Albinism 11 27
Albinoidism, Oculocutaneous, Autosomal Dominant 68

Characteristics:

Orphanet epidemiological data:

54
piebaldism:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
piebaldism:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 172800
Disease Ontology11 DOID:3263
ICD1030 E70.39
MeSH39 D016116
NCIt45 C85009
SNOMED-CT62 6479008
Orphanet54 ORPHA2884
MESH via Orphanet40 D016116
ICD10 via Orphanet31 E70.3
UMLS via Orphanet69 C0080024
MedGen37 C0080024

Summaries for Piebaldism

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NIH Rare Diseases:48 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 KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), 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 respiratory system and embryo.

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

UniProtKB/Swiss-Prot:70 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

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

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1piebald trait, kit-related11.8
2piebald trait with neurologic defects11.8
3piebald trait, snai2-related11.8
4griscelli syndrome, type 211.7
5griscelli syndrome, type 111.0
6albinism-deafness syndrome10.9
7immunodeficiency due to defect in mapbp-interacting protein10.9
8chediak-higashi syndrome10.9
9telfer sugar jaeger syndrome10.8
10skin glomus tumor10.6KIT, MITF
11hypervitaminosis a10.6KIT, MITF
12relapsing epidemic typhus10.5KIT, PDGFRA
13male reproductive system disease10.5KIT, PDGFRA
14vagina leiomyosarcoma10.5KIT, PDGFRA
15congenital disorder of glycosylation, type iq10.5KIT, PDGFRA
16malignant biphasic mesothelioma10.5KIT, PDGFRA
17lateral medullary syndrome10.5KIT, PDGFRA
18prostate small cell carcinoma10.5KIT, PDGFRA
19pura syndrome10.5KIT, PDGFRA
20mercaptolactate-cysteine disulfiduria10.5KIT, PDGFRA
21parotid gland adenoid cystic carcinoma10.5KIT, MITF
22epithelioid leiomyosarcoma10.5KIT, PDGFRA
23pancreatic agenesis10.5KIT, PDGFRA
24t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta10.5KIT, PDGFRA
25malignant fibrous histiocytoma of bone10.5KIT, PDGFRA
26ocular melanoma10.5KIT, MITF
27ovarian small cell carcinoma10.4KIT, SNAI2
28hypereosinophilic syndrome, idiopathic, resistant to imatinib10.4KIT, MITF
29waardenburg syndrome, type 110.4MITF, PAX3
30corneal granular dystrophy10.4KIT, KITLG
31pericoronitis10.4KIT, KITLG
32movement disease10.4KIT, KITLG
33multidrug-resistant tuberculosis10.4KIT, PDGFRA
34cutaneous solitary mastocytoma10.4KIT, KITLG
35epithelioid type angiomyolipoma10.4KIT, MITF
36caroli disease10.4KIT, PDGFRA
37hyperaldosteronism10.4MITF, PAX3
38asrar facharzt haque syndrome10.3KIT, KITLG
39localized osteosarcoma10.3KIT, PDGFRA
40central nervous system rhabdomyosarcoma10.3KIT, PAX3
41pulmonary immaturity10.3KIT, MITF
42desmoplastic infantile astrocytoma10.2KIT, PDGFRA
43conjunctival cancer10.2MITF, PAX3, SNAI2
44non-congenital cyst of kidney10.2KITLG, MITF
45heavy chain disease10.2KIT, MITF
46charcot-marie-tooth neuropathy, x-linked recessive, 210.2KITLG, MITF, SNAI2
47diffuse cutaneous mastocytosis10.2KIT, KITLG, PDGFRA
48mastroiacovo de rosa satta syndrome10.2KIT, KITLG, PDGFRA
49temporal lobe epilepsy10.2KIT, KITLG, PDGFRA
50duodenal obstruction10.2KIT, KITLG, PDGFRA

Graphical network of the top 20 diseases related to Piebaldism:



Diseases related to piebaldism

Symptoms & Phenotypes for Piebaldism

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Symptoms by clinical synopsis from OMIM:

172800

Clinical features from OMIM:

172800

Human phenotypes related to Piebaldism:

 64 54 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmented skin patches64 54 hallmark (90%) Frequent (79-30%) HP:0001053
2 white forelock64 54 hallmark (90%) Very frequent (99-80%) HP:0002211
3 hypermelanotic macule64 typical (50%) HP:0001034
4 microcephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000252
5 long philtrum64 54 occasional (7.5%) Occasional (29-5%) HP:0000343
6 hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000365
7 wide nasal bridge64 54 occasional (7.5%) Occasional (29-5%) HP:0000431
8 synophrys64 54 occasional (7.5%) Occasional (29-5%) HP:0000664
9 heterochromia iridis64 54 occasional (7.5%) Occasional (29-5%) HP:0001100
10 muscular hypotonia64 54 occasional (7.5%) Occasional (29-5%) HP:0001252
11 aganglionic megacolon64 54 occasional (7.5%) Occasional (29-5%) HP:0002251
12 incoordination64 occasional (7.5%) HP:0002311
13 abnormality of calvarial morphology64 54 occasional (7.5%) Occasional (29-5%) HP:0002648
14 neoplasm of the skin64 54 occasional (7.5%) Occasional (29-5%) HP:0008069
15 cognitive impairment64 occasional (7.5%) HP:0100543
16 abnormality of the ear64 HP:0000598
17 neoplasm64 HP:0002664
18 partial albinism64 HP:0007443
19 absent pigmentation of the ventral chest64 HP:0007542
20 piebaldism64 54 Very frequent (99-80%) HP:0007544
21 intellectual disability54 Occasional (29-5%)
22 ataxia54 Occasional (29-5%)
23 hypopigmentation of hair54 Very frequent (99-80%)
24 macule54 Frequent (79-30%)

MGI Mouse Phenotypes related to Piebaldism according to GeneCards Suite gene sharing:

41 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.9KIT, PAX3, PDGFRA, RAB27A, SPRED1
2MP:00053808.8KIT, KITLG, MITF, PAX3, PDGFRA, SNAI2
3MP:00053778.8KIT, KITLG, MITF, MYO5A, PAX3
4MP:00053818.7KIT, KITLG, PAX3, PDGFRA, SNAI2
5MP:00053908.7KIT, KITLG, MITF, PAX3, PDGFRA, SNAI2
6MP:00053898.6KIT, KITLG, MITF, PDGFRA, RAB27A, SNAI2
7MP:00053798.2KIT, KITLG, MITF, PAX3, PDGFRA, RAB27A
8MP:00053717.8KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
9MP:00053827.4KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
10MP:00053867.2KIT, MITF, MYO5A, PAX3, PDGFRA, RAB27A
11MP:00053917.0KIT, KITLG, MITF, MLPH, MYO5A, PAX3
12MP:00053767.0KIT, KITLG, MITF, MLPH, PAX3, PDGFRA
13MP:00053976.8KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
14MP:00011866.7KIT, KITLG, MITF, MLPH, MYO5A, PAX3
15MP:00107716.7KIT, KITLG, MITF, MLPH, MYO5A, PAX3
16MP:00053786.6KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
17MP:00036316.5KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
18MP:00053876.2KIT, KITLG, MITF, MLPH, MYO5A, PAX3

Drugs & Therapeutics for Piebaldism

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Tretinoinapproved, investigational, nutraceuticalPhase 4220302-79-45538
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)
2Pharmaceutical SolutionsPhase 47793
3
Hyaluronic acidapproved, vet_approvedPhase 34399004-61-953477741, 24759
Synonyms:
Hyaluronan
Hyaluronate
Hyaluronic acid
Hylartil
Hyruan Plus
Luronit
 
Macronan
Mucoitin
Nutra-HAF
Q 5AQ
Sepracoat
Sepragel Sinus
Sofast
Synvisc
4ViscosupplementsPhase 3364
5Adjuvants, ImmunologicPhase 32484
6Protective AgentsPhase 37190

Interventional clinical trials:

idNameStatusNCT IDPhase
1Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism PatientsUnknown statusNCT01640678Phase 4
2Punchgrafting Techniques for VitiligoUnknown statusNCT01377077Phase 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
7ReNovaCell in Non-segmental VitiligoNot yet recruitingNCT03022019

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 Albinism27
2 Piebaldism27

Anatomical Context for Piebaldism

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MalaCards organs/tissues related to Piebaldism:

36
Skin, Eye

Publications for Piebaldism

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Articles related to Piebaldism:

(show top 50)    (show all 118)
idTitleAuthorsYear
1
Piebaldism in History-"The Zebra People". (27829108)
2016
2
A case of piebaldism in a two-year-old female infant. (27068599)
2016
3
Piebaldism in children. (26919497)
2016
4
Optimising size and depth of punch grafts in autologous transplantation of vitiligo and piebaldism: a randomised controlled trial. (27309418)
2016
5
Use of Epidermal Grafting for Treatment of Depigmented Skin in Piebaldism. (27399941)
2016
6
A novel missense KIT mutation causing piebaldism in one Chinese family associated with cafAc-au-lait macules and intertriginous freckling. (25960657)
2015
7
Spontaneous repigmentation in an infant with piebaldism. (25773601)
2015
8
Piebaldism. (25991872)
2015
9
Autologous cell suspension transplantation using a cell extraction device in segmental vitiligo and piebaldism patients: A randomized controlled pilot study. (26089056)
2015
10
Molecular characterization of piebaldism in a Tunisian family. (25910686)
2015
11
Piebaldism with non-intertriginous freckles: what does it mean? (24685861)
2014
12
A novel mutation of KIT gene results in piebaldism in a Chinese family. (25199540)
2014
13
Piebaldism in a 3-month-old infant--case report. (24961053)
2014
14
4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency. (25355368)
2014
15
Piebaldism with neurofibromatosis type I: a familial case. (24882989)
2014
16
SNAI2 mutation causes human piebaldism. (24443330)
2014
17
A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family. (24000325)
2013
18
A novel mutation of the KIT gene in a Chinese family with piebaldism. (23786947)
2013
19
Piebaldism. (22670867)
2013
20
Genetic background of nonmutant Piebald-Virol-Glaxo rats does not influence nephronophthisis phenotypes. (23549608)
2013
21
Identification of novel KIT gene mutations in two Chinese families with piebaldism]. (23926000)
2013
22
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
23
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
24
Piebaldism and neurofibromatosis: state of knowledge. (23374959)
2013
25
A novel KIT frame-shift mutation in a large Chinese family with variably severe phenotypes of piebaldism. (23083126)
2013
26
Glycogen storage disease 1a with piebaldism. (22484741)
2012
27
Molecular characterization of two novel KIT mutations in patients with piebaldism. (22264755)
2012
28
Piebaldism: A brief report and review of the literature. (23130293)
2012
29
Haplotype variability in the bovine MITF gene and association with piebaldism in Holstein and Simmental cattle breeds. (22486495)
2012
30
CafAc-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome. (22438235)
2012
31
Piebaldism. (21918288)
2011
32
Letter: Misdiagnosis of "neurofibromatosis" in patients with piebaldism. (22136869)
2011
33
Piebaldism in a 2-year-old girl. (21382296)
2011
34
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
35
Long term results of non cultured epidermal cellular grafting in vitiligo, halo nevi, piebaldism and nevus depigmentosus. (20560951)
2010
36
Piebaldism and neurofibromatosis type 1: family report. (20137753)
2010
37
Melanocyte transplant in piebaldism: case report. (20676476)
2010
38
Long-term results of noncultured epidermal cellular grafting in vitiligo, halo naevi, piebaldism and naevus depigmentosus. (20804490)
2010
39
In vivo and in vitro evidence for epidermal H2O2-mediated oxidative stress in piebaldism. (19758321)
2010
40
A novel mutation in the kinase domain of KIT in an Indian family with a mild piebaldism phenotype. (20688482)
2010
41
Simplified cellular grafting for treatment of vitiligo and piebaldism: the "6-well plate" technique. (20039922)
2010
42
A novel KIT missense mutation in one Chinese family with piebaldism. (19430803)
2009
43
Familial case of piebaldism with regression of white forelock. (18355360)
2008
44
Piebaldism: a case report and a concise review of the literature. (18189028)
2007
45
Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts. (17124503)
2007
46
New mutations of KIT gene in two Chinese patients with piebaldism. (17107413)
2006
47
Mice transgenic for Kit(V620A): recapitulation of piebaldism but not progressive depigmentation seen in humans with this mutation. (16456533)
2006
48
A novel KIT gene mutation from a family with piebaldism in the southern part of China]. (16331568)
2005
49
Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism. (15737214)
2005
50
Piebaldism. (16403390)
2005

Variations for Piebaldism

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UniProtKB/Swiss-Prot genetic disease variations for Piebaldism:

70
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)SNVPathogenicrs121913679GRCh37Chr 4, 55594287: 55594287
2KITKIT, DELdeletionPathogenicChr na, -1: -1
3KITNM_000222.2(KIT): c.1752T> G (p.Phe584Leu)SNVPathogenicrs794726671GRCh37Chr 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)SNVPathogenicrs121913680GRCh37Chr 4, 55593681: 55593681
7KITNM_000222.2(KIT): c.253delG (p.Glu85Lysfs)deletionPathogenicrs794726674GRCh37Chr 4, 55561863: 55561863
8KITNM_000222.2(KIT): c.1879+1G> ASNVPathogenicrs794726675GRCh37Chr 4, 55594094: 55594094
9KITNM_000222.2(KIT): c.2539A> C (p.Thr847Pro)SNVPathogenicrs121913687GRCh37Chr 4, 55602718: 55602718
10KITNM_000222.2(KIT): c.1751T> G (p.Phe584Cys)SNVPathogenicrs28933371GRCh37Chr 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
1ectopic germ cell programmed cell deathGO:003523410.5KIT, KITLG
2embryonic hemopoiesisGO:003516210.5KIT, KITLG
3positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.4KIT, PDGFRA
4positive regulation of phospholipase C activityGO:001086310.4KIT, PDGFRA
5positive regulation of DNA replicationGO:004574010.2KITLG, PDGFRA
6positive regulation of cell migrationGO:003033510.2KIT, PDGFRA, SNAI2
7developmental pigmentationGO:004806610.1KIT, MYO5A
8phosphatidylinositol phosphorylationGO:004685410.1KIT, KITLG, PDGFRA
9phosphatidylinositol-mediated signalingGO:004801510.1KIT, KITLG, PDGFRA
10response to radiationGO:00093149.9KIT, SNAI2
11melanosome localizationGO:00324009.8MYO5A, RAB27A
12melanosome transportGO:00324029.8MYO5A, RAB27A
13regulation of phosphatidylinositol 3-kinase signalingGO:00140669.8KIT, KITLG, PDGFRA
14MAPK cascadeGO:00001659.7KIT, KITLG, PDGFRA, SPRED1
15positive regulation of cell proliferationGO:00082849.5CLEC11A, KIT, KITLG, PDGFRA
16pigmentationGO:00434739.2KIT, MYO5A, RAB27A, SNAI2
17melanocyte differentiationGO:00303189.2KIT, MITF, MYO5A, RAB27A

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

idNameGO IDScoreTop Affiliating Genes
1stem cell factor receptor bindingGO:000517310.1KITLG, SPRED1
2phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:004693410.0KIT, KITLG, PDGFRA
3Ras guanyl-nucleotide exchange factor activityGO:00050889.9KIT, KITLG, PDGFRA
4transmembrane receptor protein tyrosine kinase activityGO:00047149.8KIT, PDGFRA

Sources for Piebaldism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet