MCID: PCH001
MIFTS: 54

Pachyonychia Congenita malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Pachyonychia Congenita

About this section
Sources:
11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Pachyonychia Congenita:

Name: Pachyonychia Congenita 11 22 46 23 24 13 52 37 66
Pachyonychia Congenita Syndrome 46 24 25
Pachyonychia Congenita, Jadassohn-Lewandowsky Type 11 12
Pachyonychia Congenita Type 1 11 25
Congenital Pachyonychia 46 24
Pachyonychia Congenita, Jadassohn Lewandowsky Type 66
Jackson-Lawler Type Pachyonychia Congenita 11
 
Pyruvate Carboxylase Deficiency Disease 66
Pachyonychia Congenita, Type 1 48
Jadassohn-Lewandowski Syndrome 24
Jadassohn-Lewandowsky Syndrome 11
Pachyonychia Congenita, Type 2 66
Jackson-Lawler Syndrome 24
Pc 52

Characteristics:

Orphanet epidemiological data:

52
pachyonychia congenita:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:0050449
MeSH37 D053549
NCIt43 C84986
Orphanet52 ORPHA2309
SNOMED-CT60 205600001, 39427000
ICD10 via Orphanet29 Q84.5
MESH via Orphanet38 D053549
UMLS via Orphanet67 C0265334

Summaries for Pachyonychia Congenita

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NIH Rare Diseases:46 Pachyonychia congenita (pc) is a rare inherited condition that primarily affects the nails and skin. the fingernails and toenails may be thickened and abnormally shaped. affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands (palmoplantar keratoderma). additional features include white patches on the tongue and inside of the mouth (leukokeratosis); bumps around the elbows, knees, and waistline (follicular hyperkeratosis); and cysts of various types including steatocystoma. features may vary among affected people depending on their specific mutation. pc is divided into 5 types based on the specific keratin gene involved: pc-k6a, pc-k6b, pc-k6c, pc-k16, and pc-k17. all forms are inherited in an autosomal dominant manner. treatment is based on the signs and symptoms present in each person. last updated: 12/10/2015

MalaCards based summary: Pachyonychia Congenita, also known as pachyonychia congenita syndrome, is related to pachyonychia congenita 2 and pachyonychia congenita 3, and has symptoms including hyperhidrosis, palmoplantar keratoderma and abnormality of the fingernails. An important gene associated with Pachyonychia Congenita is KRT6B (Keratin 6B), and among its related pathways are Glucocorticoid receptor regulatory network and Cytoskeletal Signaling. Affiliated tissues include skin, tongue and b cells, and related mouse phenotypes are digestive/alimentary and craniofacial.

Genetics Home Reference:24 Pachyonychia congenita is a condition that primarily affects the nails and skin. The signs and symptoms of this condition usually become apparent within the first few months of life.

Wikipedia:69 Pachyonychia congenita is an autosomal dominant skin disorder. more...

GeneReviews summary for NBK1280

Related Diseases for Pachyonychia Congenita

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Diseases in the Pachyonychia Congenita family:

Pachyonychia Congenita 3 Pachyonychia Congenita 4
Pachyonychia Congenita 1 Pachyonychia Congenita 2
Krt16-Related Pachyonychia Congenita Krt17-Related Pachyonychia Congenita
Krt6a-Related Pachyonychia Congenita Krt6b-Related Pachyonychia Congenita

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

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1pachyonychia congenita 233.8KRT16, KRT17, KRT6A, KRT6B
2pachyonychia congenita 333.5KRT14, KRT5
3pachyonychia congenita 112.3
4pachyonychia congenita 412.3
5krt16-related pachyonychia congenita12.1
6krt17-related pachyonychia congenita12.1
7krt6a-related pachyonychia congenita12.1
8krt6b-related pachyonychia congenita12.1
9steatocystoma multiplex10.9
10abnormal pupillary function10.7KRT16, KRT6A
11otosclerosis10.7KRT16, KRT17
12cholesteatoma of attic10.6KRT6A, KRT6B
13rectosigmoid junction neoplasm10.6FLG, KRT16
14ichthyosis histrix, curth-macklin type10.4KRT10, KRT16
15hypothyroidism10.4KRT16, KRT6A, KRT6B
16sclerosteosis 110.4KRT16, KRT17, KRT6B
17complex lethal osteochondrodysplasia10.4KRT10, KRT16
18brachydactyly type a310.4FLG, KRT10
19palmoplantar keratoderma, epidermolytic10.4KRT16, KRT9
20lipoid nephrosis10.3KRT13, KRT16
21freemartinism10.3FLG, KRT10
22malignant cystic nephroma10.3KRT10, KRT5
23laryngitis10.3
24cryptosporidiosis10.2FLG, KRT17, KRT5
25ebola hemorrhagic fever10.2KRT10, KRT9
26conjunctiva squamous cell carcinoma10.2KRT10, KRT9
27pneumonia10.2KRT10, KRT5
28carotid artery occlusion10.2KRT13, KRT5
29histiocytosis10.2KRT16, KRT6A, KRT9
30malignant epithelial mesothelioma10.2KRT10, KRT5
31keratosis palmoplantaris striata iii10.2KRT16, KRT17, KRT9
32craniodiaphyseal dysplasia, autosomal dominant10.2KRT10, KRT16, KRT17
33biliary atresia10.2KRT13, KRT5
34alopecia10.2
35bladder verrucous squamous cell carcinoma10.2KRT10, KRT5
36familial lipoprotein lipase deficiency10.2KRT16, KRT17, KRT6A, KRT6B
37hypertrophic or verrucous lupus erythematosus10.1FLG, KRT10, KRT16
38hidradenitis suppurativa10.1
39hidradenitis10.1
40epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia10.1KRT14, KRT16
41chondrodysplasia punctata, x-linked recessive10.0FLG, KRT10
42cole-carpenter syndrome 110.0KRT10, KRT16
43milker's nodule10.0KRT17, KRT5
44dowling-degos disease 110.0KRT14, KRT5
45quinquaud's decalvans folliculitis10.0KRT14, KRT5
46stromal keratitis10.0KRT10, KRT5
47sed congenita10.0KRT14, KRT5
48oligodendroglioma10.0KRT13, KRT5
49benign intermediate mesothelioma10.0KRT14, KRT5
50ewing sarcoma10.0

Graphical network of the top 20 diseases related to Pachyonychia Congenita:



Diseases related to pachyonychia congenita

Symptoms for Pachyonychia Congenita

About this section

Symptoms:

 52 (show all 21)
  • abnormality of the teeth
  • cataract
  • carious teeth
  • hyperhidrosis
  • palmoplantar keratoderma
  • corneal dystrophy
  • abnormality of the fingernails
  • abnormality of the hair
  • alopecia
  • abnormality of the nail
  • laryngomalacia
  • anonychia
  • thick nail
  • respiratory insufficiency
  • hepatomegaly
  • oral leukoplakia
  • ichthyosis
  • abnormal blistering of the skin
  • nail dystrophy
  • cognitive impairment
  • abnormality of nail color

HPO human phenotypes related to Pachyonychia Congenita:

(show all 18)
id Description Frequency HPO Source Accession
1 hyperhidrosis hallmark (90%) HP:0000975
2 palmoplantar keratoderma hallmark (90%) HP:0000982
3 abnormality of the fingernails hallmark (90%) HP:0001231
4 abnormality of the toenails hallmark (90%) HP:0008388
5 abnormality of nail color hallmark (90%) HP:0100643
6 carious teeth typical (50%) HP:0000670
7 anonychia typical (50%) HP:0001798
8 ichthyosis typical (50%) HP:0008064
9 abnormal blistering of the skin typical (50%) HP:0008066
10 neoplasm of the skin typical (50%) HP:0008069
11 cataract occasional (7.5%) HP:0000518
12 corneal dystrophy occasional (7.5%) HP:0001131
13 abnormality of the fingernails occasional (7.5%) HP:0001231
14 alopecia occasional (7.5%) HP:0001596
15 laryngomalacia occasional (7.5%) HP:0001601
16 respiratory insufficiency occasional (7.5%) HP:0002093
17 hepatomegaly occasional (7.5%) HP:0002240
18 cognitive impairment occasional (7.5%) HP:0100543

UMLS symptoms related to Pachyonychia Congenita:


clonus, hepatomegaly, seizures, hoarseness

Drugs & Therapeutics for Pachyonychia Congenita

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EverolimusPhase 1, Phase 21863159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
2
sirolimusPhase 1, Phase 2186353123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
3
MiconazolePhase 1, Phase 2357322916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
4
AcetylcholinePhase 275251-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
5
Simvastatin50379902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin

Interventional clinical trials:

idNameStatusNCT IDPhase
1Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC)CompletedNCT02152007Phase 1, Phase 2
2Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia CongenitaRecruitingNCT00936533Phase 2
3Study of TD101, a Small Interfering RNA (siRNA) Designed for Treatment of Pachyonychia CongenitaCompletedNCT00716014Phase 1
4Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal SkinRecruitingNCT02592954Phase 1
5International Pachyonychia Congenita Research RegistryRecruitingNCT02321423
6National Registry for Ichthyosis and Related DisordersActive, not recruitingNCT00074685
7Simvastatin Treatment of Pachyonychia CongenitaNot yet recruitingNCT01382511

Search NIH Clinical Center for Pachyonychia Congenita


Cochrane evidence based reviews: pachyonychia congenita

Genetic Tests for Pachyonychia Congenita

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Genetic tests related to Pachyonychia Congenita:

id Genetic test Affiliating Genes
1 Pachyonychia Congenita, Type 125
2 Pachyonychia Congenita Syndrome25
3 Pachyonychia Congenita23 KRT6B

Anatomical Context for Pachyonychia Congenita

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MalaCards organs/tissues related to Pachyonychia Congenita:

34
Skin, Tongue, B cells

Animal Models for Pachyonychia Congenita or affiliated genes

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MGI Mouse Phenotypes related to Pachyonychia Congenita:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.3KRT14, KRT16, KRT17, KRT5, KRT6B
2MP:00053828.0KRT14, KRT16, KRT17, KRT5, KRT6B
3MP:00107717.4FZD6, GJB6, KRT14, KRT16, KRT17, KRT5

Publications for Pachyonychia Congenita

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Articles related to Pachyonychia Congenita:

(show top 50)    (show all 239)
idTitleAuthorsYear
1
Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients. (27041546)
2016
2
Pachyonychia congenita with late onset (PC tarda). (27559502)
2016
3
A novel H1 mutation in keratin 6a in an infant with pachyonychia congenita. (26087092)
2015
4
Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin. (26464567)
2015
5
Identification of a CAST Mutation in a Cohort Previously Misdiagnosed as Having Autosomal Recessive Pachyonychia Congenita. (26650665)
2015
6
PCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita. (25775665)
2015
7
Best treatment practices for pachyonychia congenita. (23363249)
2013
8
A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2. (23278621)
2013
9
A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. (22264670)
2012
10
Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16. (22098151)
2012
11
Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma. (22668561)
2012
12
Toward a treatment for pachyonychia congenita: report on the 7th Annual International Pachyonychia Congenita Consortium meeting. (21494242)
2011
13
Development of skin-humanized mouse models of pachyonychia congenita. (21150925)
2011
14
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. (21160496)
2011
15
The 521 T--> C mutation in the keratin 6A gene in a pedigree with pachyonychia congenita type I]. (20140871)
2010
16
Marathon of eponyms: 10 Jadassohn-Lewandowsky syndrome (Pachyonychia congenita). (20374515)
2010
17
Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1. (19416275)
2009
18
Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation. (19120334)
2009
19
Persistent hoarseness in a patient with pachyonychia congenita: an early sign of laryngeal involvement. (20415676)
2009
20
Mice expressing a mutant Krt75 (K6hf) allele develop hair and nail defects resembling pachyonychia congenita. (17851587)
2008
21
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita. (18495438)
2008
22
Treatment of pachyonychia congenita with plantar injections of botulinum toxin. (16536826)
2006
23
Mouse models in preclinical studies for pachyonychia congenita. (16250208)
2005
24
Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database. (16250207)
2005
25
Clouston syndrome can mimic pachyonychia congenita. (14708603)
2003
26
A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2. (11874497)
2002
27
Pachyonychia congenita: a case report. (11841652)
2001
28
Avoiding Pachyonychia congenita using oocyte donation. (10026421)
1999
29
Eruptive vellus hair cyst in a patient with pachyonychia congenita. (10405490)
1999
30
Otological lesions in pachyonychia congenita syndrome. (9015428)
1996
31
Keratin 16 and keratin 17 mutations cause pachyonychia congenita. (7539673)
1995
32
A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. (7529318)
1994
33
Pachyonychia congenita. A historical note. (8311195)
1993
34
Pachyonychia congenita tarda. A late-onset form of pachyonychia congenita. (1827243)
1991
35
Pachyonychia congenita associated with 46,XYq-karyotype. (2284939)
1990
36
Pachyonychia congenita with patent ductus arteriosus. (6386920)
1984
37
Pachyonychia congenita: surgical management of the nail changes. (7056926)
1982
38
Treatment of pachyonychia congenita with phenytoin. (6895850)
1982
39
Pachyonychia congenita with candidiasis. (7261468)
1981
40
The pachyonychia congenita syndrome. (6153833)
1980
41
Cornoid lamella in pachyonychia congenita. (736589)
1978
42
Pachyonychia congenita Jadassohn-Lewandowsky: a disorder of keratinization. (74170)
1977
43
Pachyonychia congenita with cardiac involvement. (140628)
1977
44
Pachyonychia congenita (Jadassohn-Lewandowski syndrome: case report. (577013)
1977
45
Pachyonychia congenita (a case report). (1002268)
1976
46
Pachyonychia congenita with metacarpal-phalangeal agenesis in a dog. (5199077)
1970
47
Sodium laevothyroxine in pachyonychia congenita. (5705304)
1968
48
Oral lesions accompanying pachyonychia congenita. (13553304)
1958
49
Pachyonychia congenita. (21000079)
1946
50
Pachyonychia Congenita (Jadassohn and Lewandowski). (19991775)
1939

Variations for Pachyonychia Congenita

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Clinvar genetic disease variations for Pachyonychia Congenita:

5 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1KRT17NM_000422.2(KRT17): c.274A> G (p.Asn92Asp)single nucleotide variantPathogenicrs28928896GRCh37Chr 17, 39780488: 39780488
2KRT17NM_000422.2(KRT17): c.275A> G (p.Asn92Ser)single nucleotide variantPathogenicrs59151893GRCh37Chr 17, 39780487: 39780487
3KRT17NM_000422.2(KRT17): c.292T> G (p.Tyr98Asp)single nucleotide variantPathogenicrs28933088GRCh37Chr 17, 39780470: 39780470
4KRT17NM_000422.2(KRT17): c.281G> A (p.Arg94His)single nucleotide variantPathogenicrs28928897GRCh37Chr 17, 39780481: 39780481
5KRT17NM_000422.2(KRT17): c.280C> T (p.Arg94Cys)single nucleotide variantPathogenicrs58730926GRCh37Chr 17, 39780482: 39780482
6KRT17NM_000422.2(KRT17): c.263T> C (p.Met88Thr)single nucleotide variantPathogenicrs28928898GRCh37Chr 17, 39780499: 39780499
7KRT17NM_000422.2(KRT17): c.281_295delGCCTGGCCTCCTACC (p.Arg94_Tyr98del)deletionPathogenicrs57674130GRCh37Chr 17, 39780467: 39780481
8KRT17NM_000422.2(KRT17): c.281G> C (p.Arg94Pro)single nucleotide variantPathogenicrs28928897GRCh37Chr 17, 39780481: 39780481
9KRT17NM_000422.2(KRT17): c.284T> A (p.Leu95Gln)single nucleotide variantPathogenicrs28928899GRCh37Chr 17, 39780478: 39780478
10KRT17NM_000422.2(KRT17): c.284T> C (p.Leu95Pro)single nucleotide variantPathogenicrs28928899GRCh37Chr 17, 39780478: 39780478
11KRT17NM_000422.2(KRT17): c.289_291delTCC (p.Ser97del)deletionPathogenicrs121912478GRCh37Chr 17, 39780471: 39780473
12KRT17NM_000422.2(KRT17): c.296T> C (p.Leu99Pro)single nucleotide variantPathogenicrs28933089GRCh37Chr 17, 39780466: 39780466
13KRT17NM_000422.2(KRT17): c.304G> A (p.Val102Met)single nucleotide variantPathogenicrs59977263GRCh37Chr 17, 39780458: 39780458
14KRT16NM_005557.3(KRT16): c.395T> C (p.Leu132Pro)single nucleotide variantPathogenicrs60944949GRCh37Chr 17, 39768546: 39768546
15KRT16NM_005557.3(KRT16): c.374A> G (p.Asn125Ser)single nucleotide variantPathogenicrs60723330GRCh37Chr 17, 39768567: 39768567
16KRT16NM_005557.3(KRT16): c.389_391delCCT (p.Ser130del)deletionPathogenicrs58181827GRCh37Chr 17, 39768550: 39768552
17KRT16NM_005557.3(KRT16): c.380G> C (p.Arg127Pro)single nucleotide variantPathogenicrs57424749GRCh37Chr 17, 39768561: 39768561
18KRT16NM_005557.3(KRT16): c.365A> C (p.Gln122Pro)single nucleotide variantPathogenicrs59349773GRCh37Chr 17, 39768576: 39768576
19KRT16NM_005557.3(KRT16): c.371T> G (p.Leu124Arg)single nucleotide variantPathogenicrs58293603GRCh37Chr 17, 39768570: 39768570
20KRT16NM_005557.3(KRT16): c.1062A> T (p.Lys354Asn)single nucleotide variantPathogenicrs59328451GRCh37Chr 17, 39766801: 39766801
21KRT16NM_005557.3(KRT16): c.362T> C (p.Met121Thr)single nucleotide variantPathogenicrs28928894GRCh37Chr 17, 39768579: 39768579
22KRT16NM_005557.3(KRT16): c.383T> A (p.Leu128Gln)single nucleotide variantPathogenicrs28928895GRCh37Chr 17, 39768558: 39768558
23KRT16NM_005557.3(KRT16): c.373A> G (p.Asn125Asp)single nucleotide variantPathogenicrs58608173GRCh37Chr 17, 39768568: 39768568

Expression for genes affiliated with Pachyonychia Congenita

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Search GEO for disease gene expression data for Pachyonychia Congenita.

Pathways for genes affiliated with Pachyonychia Congenita

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Pathways related to Pachyonychia Congenita according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
18.8KRT14, KRT17, KRT5
28.1KRT10, KRT13, KRT17, KRT5, KRT6A, KRT6B
3
Show member pathways
7.6KRT13, KRT14, KRT16, KRT17, KRT5, KRT6A

GO Terms for genes affiliated with Pachyonychia Congenita

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Cellular components related to Pachyonychia Congenita according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:00450958.4KRT13, KRT14, KRT5, KRT6A, KRT6B
2intermediate filamentGO:00058827.4FLG, KRT10, KRT14, KRT16, KRT17, KRT5
3extracellular exosomeGO:00700626.5KRT10, KRT13, KRT14, KRT16, KRT17, KRT5

Biological processes related to Pachyonychia Congenita according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1keratinizationGO:003142410.3KRT16, KRT17
2intermediate filament cytoskeleton organizationGO:004510410.2KRT16, KRT6A
3establishment of skin barrierGO:006143610.1FLG, KRT16
4hair cycleGO:004263310.0KRT14, KRT16
5keratinocyte differentiationGO:00302169.9FLG, KRT10, KRT16
6intermediate filament organizationGO:00451099.8KRT17, KRT9
7hemidesmosome assemblyGO:00315819.6KRT14, KRT5
8agingGO:00075688.8GJB6, KRT14, KRT16
9cytoskeleton organizationGO:00070108.8KRT13, KRT16, KRT5, KRT6B
10epidermis developmentGO:00085448.3KRT14, KRT16, KRT17, KRT5, KRT9

Molecular functions related to Pachyonychia Congenita according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.1FLG, KRT13, KRT6A
2structural constituent of cytoskeletonGO:00052007.4KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B

Sources for Pachyonychia Congenita

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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