MCID: PBL001
MIFTS: 56

Piebaldism malady

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

Aliases & Classifications for Piebaldism

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Piebaldism:

Name: Piebaldism 49 10 11 45 23 47 12 51 67 36 65
Piebald Trait 10 23 67
Pbt 45 23 67
 
Partial Albinism 10 24
Albinoidism, Oculocutaneous, Autosomal Dominant 65

Characteristics:

Orphanet epidemiological data:

51
piebaldism:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

61
piebaldism:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 172800
Disease Ontology10 DOID:3263
ICD1027 E70.39
MeSH36 D016116
NCIt42 C85009
SNOMED-CT59 6479008
Orphanet51 2884
ICD10 via Orphanet28 E70.3
MESH via Orphanet37 D016116
UMLS via Orphanet66 C0080024
MedGen34 C0080024
UMLS65 C0080024, C1876214

Summaries for Piebaldism

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NIH Rare Diseases:45 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, snai2-related, and has symptoms including white forelock, hypopigmented skin patches and hypermelanotic macule. An important gene associated with Piebaldism is SNAI2 (Snail Family Zinc Finger 2), and among its related pathways are Regulation of KIT signaling and Neural Crest Differentiation. Affiliated tissues include skin, eye and prostate, and related mouse phenotypes are digestive/alimentary and respiratory system.

UniProtKB/Swiss-Prot:67 Piebald trait: Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.

Genetics Home Reference:23 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:49 Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas... (172800) more...

Wikipedia:68 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 174)
idRelated DiseaseScoreTop Affiliating Genes
1piebald trait, kit-related12.4
2piebald trait, snai2-related12.3
3griscelli syndrome, type 211.7
4griscelli syndrome, type 111.5
5griscelli syndrome11.5
6telfer sugar jaeger syndrome11.5
7gangliocytoma10.4KIT, MITF
8ocular albinism with sensorineural deafness10.4MITF, SNAI2
9hypervitaminosis d10.4KIT, MITF
10exencephaly10.4KIT, KITLG
11albinism-deafness syndrome10.4
12skin benign neoplasm10.4KIT, MITF
13mediastinal neurilemmoma10.4KIT, SNAI2
14immunodeficiency due to defect in mapbp-interacting protein10.4
15chediak-higashi syndrome10.4
16albinism immunodeficiency10.4
17extraneural perineurioma10.4KIT, PDGFRA
18waardenburg syndrome, type 110.4MITF, PAX3
19male reproductive system disease10.3KIT, KITLG
20wegener granulomatosis10.3
21cornelia de lange syndrome10.3
22olfactory nerve disease10.3KIT, KITLG
23aggressive systemic mastocytosis10.3KIT, PDGFRA
24stromal corneal pigmentation10.3KIT, KITLG
25rhinitis10.3KIT, PDGFRA
26prostate leiomyosarcoma10.3KIT, PDGFRA
27bartholin's gland small cell carcinoma10.3KIT, PDGFRA
28carnitine palmitoyltransferase i deficiency , muscle10.3KIT, PDGFRA
29pediatric fibrosarcoma10.3KIT, PDGFRA
30ovary leiomyosarcoma10.3KIT, PDGFRA
31liver rhabdomyosarcoma10.3KIT, PAX3
32caroli disease10.3KIT, PDGFRA
33waardenburg's syndrome10.3KIT, KITLG
34comedo carcinoma10.3KIT, PDGFRA
35prostatitis10.3
36hepatic angiomyolipoma10.3KIT, MITF
37osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome10.3KIT, PDGFRA
38bone angioendothelial sarcoma10.3KIT, PDGFRA
39hereditary renal cell carcinoma10.3MITF, PAX3
40small cell neuroendocrine carcinoma10.3KIT, PDGFRA
41fallopian tube transitional cell carcinoma10.2KIT, PDGFRA
42anterior spinal artery syndrome10.2MITF, PAX3
43renal cell carcinoma, papillary10.2KIT, MITF
44diffuse cutaneous mastocytosis10.2KIT, KITLG
45fibrosarcoma10.2KIT, PDGFRA
46megalocornea10.2KIT, KITLG, SPRED1
47conjunctival intraepithelial neoplasm10.2MITF, PAX3, SNAI2
48nasopharynx carcinoma10.2MITF, PAX3, SNAI2
49acantholytic squamous cell skin carcinoma10.2KIT, KITLG
50malaria10.1

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:

 51 (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)

HPO human phenotypes related to Piebaldism:

(show all 23)
id Description Frequency HPO Source Accession
1 white forelock hallmark (90%) HP:0002211
2 hypopigmented skin patches hallmark (90%) HP:0001053
3 hypermelanotic macule typical (50%) HP:0001034
4 cognitive impairment occasional (7.5%) HP:0100543
5 neoplasm of the skin occasional (7.5%) HP:0008069
6 abnormality of calvarial morphology occasional (7.5%) HP:0002648
7 incoordination occasional (7.5%) HP:0002311
8 aganglionic megacolon occasional (7.5%) HP:0002251
9 muscular hypotonia occasional (7.5%) HP:0001252
10 heterochromia iridis occasional (7.5%) HP:0001100
11 synophrys occasional (7.5%) HP:0000664
12 wide nasal bridge occasional (7.5%) HP:0000431
13 hearing impairment occasional (7.5%) HP:0000365
14 long philtrum occasional (7.5%) HP:0000343
15 microcephaly occasional (7.5%) HP:0000252
16 piebaldism HP:0007544
17 absent pigmentation of the ventral chest HP:0007542
18 partial albinism HP:0007443
19 neoplasm HP:0002664
20 aganglionic megacolon HP:0002251
21 white forelock HP:0002211
22 heterochromia iridis HP:0001100
23 abnormality of the ear HP:0000598

Drugs & Therapeutics for Piebaldism

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Tretinoinapproved, investigational, nutraceuticalPhase 4210302-79-45538, 444795
Synonyms:
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
(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-nonatetraenoate
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)
Acide retinoique (French) (DSL)
Acide retinoique (french) (dsl)
Acnavit
Acnavit [Denmark]
Airol
Aknefug
Aknoten
Alitretinoin
All Trans Retinoic Acid
All Trans-Retinoic Acid
All-(E)-Retinoate
All-(E)-Retinoic acid
All-trans Retinoic Acid
All-trans-Retinoate
All-trans-Retinoic acid
All-trans-Tretinoin
All-trans-Vitamin A acid
All-trans-Vitamin A1 acid
Alltrans-retinoic acid
Amnesteem
Atra-IV
Atragen
Atralin
Avita
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
Obagi
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
Refissa
Renova
Renova (TN)
Retacnyl
Retin A
Retin A (TN)
Retin-A
Retin-A Micro
Retin-a
Retin-a Micro
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
Tretin-x
Tretin.x
Tretinoin
Tretinoin (JAN/USP/INN)
Tretinoin (TN)
Tretinoin 0.1% cream or placebo
Tretinoin Cream
Tretinoin Gel Microsphere
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)
Tretinoine (french) (einecs)
Tretinoine [INN-French]
Tretinoino
Tretinoino [INN-Spanish]
Tretinoinum
Tretinoinum [INN-Latin]
Tretinx
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-Retinoate
beta-Retinoic Acid
beta-Retinoic acid
beta-all-trans-Retinoic acid
bmse000562
nchembio.154-comp2
trans Retinoic Acid
trans-Retinoate
trans-Retinoic acid
tretinoin
tretinoin liposome
tretinoine (French) (EINECS)
2Pharmaceutical SolutionsPhase 47004
3
HyaluronanapprovedPhase 33629067-32-7, 9004-61-953477741, 24759
Synonyms:
Hyaluronate
Hyaluronic acid
Hyaluronic acid sodium salt
Hylartil
Hyruan Plus
Luronit
Macronan
 
Mucoitin
Nutra-HAF
Q 5AQ
Sepracoat
Sepragel Sinus
Sodium hyaluronate
Sofast
Synvisc
4ViscosupplementsPhase 3267
5Protective AgentsPhase 35651
6Immunologic FactorsPhase 318483
7Adjuvants, ImmunologicPhase 31783

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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Anatomical Context for Piebaldism

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MalaCards organs/tissues related to Piebaldism:

33
Skin, Eye, Prostate, Lung, Breast, Liver, T cells

Animal Models for Piebaldism or affiliated genes

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MGI Mouse Phenotypes related to Piebaldism:

38 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.0KIT, KITLG, PAX3, PDGFRA, SNAI2
2MP:00053888.9KIT, PAX3, PDGFRA, RAB27A, SPRED1
3MP:00053808.8KIT, KITLG, MITF, PAX3, PDGFRA, SNAI2
4MP:00053898.5KIT, KITLG, MITF, PDGFRA, RAB27A, SNAI2
5MP:00053908.4KIT, KITLG, MITF, PAX3, PDGFRA, SNAI2
6MP:00053798.3KIT, KITLG, MITF, PAX3, PDGFRA, RAB27A
7MP:00053778.3KIT, KITLG, MITF, MYO5A, PAX3
8MP:00053717.8KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
9MP:00053767.4KIT, KITLG, MITF, MLPH, PAX3, PDGFRA
10MP:00053867.4KIT, MITF, MYO5A, PAX3, PDGFRA, RAB27A
11MP:00053827.3KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
12MP:00053917.2KIT, KITLG, MITF, MLPH, MYO5A, PAX3
13MP:00036316.9KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
14MP:00011866.8KIT, KITLG, MITF, MLPH, MYO5A, PAX3
15MP:00107716.8KIT, KITLG, MITF, MLPH, MYO5A, PAX3
16MP:00053786.8KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
17MP:00053976.3KIT, KITLG, MITF, MYO5A, PAX3, PDGFRA
18MP:00053875.9KIT, KITLG, MITF, MLPH, MYO5A, PAX3

Publications for Piebaldism

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Articles related to Piebaldism:

(show top 50)    (show all 113)
idTitleAuthorsYear
1
Novel heterozygous C243Y A20/TNFAIP3 gene mutation is responsible for chronic inflammation in autosomal-dominant BehAset's disease. (27175295)
2016
2
Salvage Options in the Cerebral Palsy Hip: A Systematic Review. (25887836)
2015
3
Natural products for the treatment of trachoma and Chlamydia trachomatis. (25751782)
2015
4
Coexistence of granular cell tumor with squamous cell carcinoma on the tongue: a case report. (25745614)
2015
5
Response to Plasmapheresis Measured by Angiogenic Factors in a Woman with Antiphospholipid Syndrome in Pregnancy. (26413360)
2015
6
Nephrolithiasis in pediatric hematopoietic cell transplantation with up to 40 years of follow-up. (24038785)
2014
7
Donor PNPLA3 rs738409 genotype affects fibrosis progression in liver transplantation for hepatitis C. (24123231)
2014
8
Pulmonary hemosiderosis in children with bronchopulmonary dysplasia. (25309768)
2014
9
Paratesticular liposarcoma: a case report and review of the literature. (23533935)
2013
10
Food selectivity in children with and without an autism spectrum disorder: investigation of diagnosis and age. (23948127)
2013
11
p70 S6K1 nuclear localization depends on its mTOR-mediated phosphorylation at T389, but not on its kinase activity towards S6. (21710263)
2012
12
Variations in glutathione-S-transferase genes influence risk of chronic myeloid leukemia. (21969307)
2012
13
Genetic variants of the fatty acid desaturase gene cluster predict amounts of red blood cell docosahexaenoic and other polyunsaturated fatty acids in pregnant women: findings from the Avon Longitudinal Study of Parents and Children. (21106917)
2011
14
Primitive neuroectodermal tumor of the liver: a case report. (22242031)
2011
15
Excitatory binocular interactions in two cases of alternating strabismus. (21907116)
2011
16
Retromer terminates the generation of cAMP by internalized PTH receptors. (21445058)
2011
17
Unusual localizations of plasmacytoma. (21397945)
2011
18
Capsule retention in a giant Meckel's diverticulum containing multiple enteroliths. (21915841)
2011
19
Kinetic analysis of bile acid sulfation by stably expressed human sulfotransferase 2A1 (SULT2A1). (20102295)
2010
20
KIT as a therapeutic target in melanoma. (19847190)
2010
21
Increased chromosomal radiosensitivity in women carrying BRCA1/BRCA2 mutations assessed with the G2 assay. (20206018)
2010
22
Narcolepsy and streptococcal infections. (20041589)
2009
23
Biomarkers for prostate cancer. (19507229)
2009
24
Immune manipulation of advanced breast cancer: an interpretative model of the relationship between immune system and tumor cell biology. (19105214)
2009
25
Can lactoferrin prevent neonatal sepsis and necrotizing enterocolitis? (19485792)
2009
26
Fibroblast growth factor controls the timing of Scl, Lmo2, and Runx1 expression during embryonic blood development. (17942750)
2008
27
Peripheral T-cell lymphoma resembling Kimura's disease. (18377587)
2008
28
Otosclerosis and TGF-beta 1 gene in black South Africans. (19113055)
2008
29
cDNA cloning and phylogenetic analysis of the sixth complement component in rainbow trout. (16271768)
2006
30
Cytotoxic effect of R-etodolac (SDX-101) in combination with purine analogs or monoclonal antibodies on ex vivo B-cell chronic lymphocytic leukemia cells. (17169808)
2006
31
Chronic lymphocytic leukaemia and concomitant relapsing polychondritis: a report on one treatment for the combined manifestation of two diseases. (15855184)
2005
32
MHC class II/CD38/CD9: a lipid-raft-dependent signaling complex in human monocytes. (15941914)
2005
33
Cotargeting tumor and tumor endothelium effectively inhibits the growth of human prostate cancer in adenovirus-mediated antiangiogenesis and oncolysis combination therapy. (15565180)
2005
34
Antipanic efficacy of paroxetine and polymorphism within the promoter of the serotonin transporter gene. (16034444)
2005
35
Analysis of intracellular cytokines in CD4+ and CD8+ lung and blood T cells in sarcoidosis. (11208635)
2001
36
Update on the molecular genetics of retinitis pigmentosa. (11559856)
2001
37
The association of unilateral congenital glaucoma and congenital lower lid entropion: causal or casual? (11300638)
2001
38
Idiopathic membranous glomerulonephritis associated with primary antiphospholipid syndrome. (11096306)
2000
39
Myocardial necrosis in ICU patients with acute non-cardiac disease: a prospective study. (10663277)
2000
40
Immunohistochemical evaluation of the probability of skin metastasis in gastric cancer. (10210788)
1999
41
Characteristic neuropathology of leukomalacia in extremely low birth weight infants. (9258961)
1997
42
Effects of sphingosine and sphingosine analogues on the free radical production by stimulated neutrophils: ESR and chemiluminescence studies. (18472867)
1997
43
The metabolism of drugs by the gut flora. (7867662)
1994
44
Role of cell-mediated immunity in the resistance to experimental sporotrichosis in mice. (1480205)
1992
45
Serous papillary adenocarcinoma of the endometrium. Analysis of proto-oncogene amplification, flow cytometry, estrogen and progesterone receptors, and immunohistochemistry. (1690076)
1990
46
Comparison of arm and leg ergometry in patients with moderate chronic obstructive lung disease. (3222762)
1988
47
Synthesis of membrane-bound colony-stimulating factor 1 (CSF-1) and downmodulation of CSF-1 receptors in NIH 3T3 cells transformed by cotransfection of the human CSF-1 and c-fms (CSF-1 receptor) genes. (3039346)
1987
48
Chondroid chordoma. Case report and literature review. (7416675)
1980
49
Alpha-chain disease--a report of eleven patients from Iran. (119056)
1979
50
Sub-populations of peripheral lymphocytes from patients with shigella bacillary dysentery with associated leucocytosis. (395727)
1979

Variations for Piebaldism

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UniProtKB/Swiss-Prot genetic disease variations for Piebaldism:

67
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

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 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAP kinase activityGO:004340610.3KIT, KITLG
2phosphatidylinositol phosphorylationGO:004685410.3KIT, KITLG
3positive regulation of phospholipase C activityGO:001086310.2KIT, PDGFRA
4ovarian follicle developmentGO:000154110.2KIT, KITLG
5positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.1KIT, PDGFRA
6cell chemotaxisGO:006032610.0KIT, PDGFRA
7positive regulation of DNA replicationGO:00457409.9KITLG, PDGFRA
8phosphatidylinositol-mediated signalingGO:00480159.8KIT, KITLG, PDGFRA
9activation of MAPKK activityGO:00001869.6KIT, KITLG, PDGFRA
10vascular endothelial growth factor receptor signaling pathwayGO:00480109.6KIT, KITLG, PDGFRA
11melanocyte differentiationGO:00303189.4KIT, MYO5A, RAB27A
12fibroblast growth factor receptor signaling pathwayGO:00085439.3KIT, KITLG, PDGFRA, SPRED1
13insulin receptor signaling pathwayGO:00082869.2KIT, KITLG, PDGFRA, SPRED1
14pigmentationGO:00434739.0KIT, MYO5A, RAB27A, SNAI2
15innate immune responseGO:00450878.9KIT, KITLG, PDGFRA, SPRED1
16vesicle-mediated transportGO:00161928.8MYO5A, RAB27A

Sources for Piebaldism

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet