MCID: PCH001
MIFTS: 51

Pachyonychia Congenita malady

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

Aliases & Classifications for Pachyonychia Congenita

About this section
Sources:
10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 11diseasecard, 24GTR, 47Novoseek, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Pachyonychia Congenita:

Name: Pachyonychia Congenita 10 21 45 22 23 12 51 36 65
Pachyonychia Congenita Syndrome 45 23 24
Pachyonychia Congenita, Jadassohn-Lewandowsky Type 10 11
Pachyonychia Congenita, Type 1 47 24
Congenital Pachyonychia 45 23
Pachyonychia Congenita, Jadassohn Lewandowsky Type 65
Pachyonychia Congenita, Jackson-Lawler Type 11
Jackson-Lawler Type Pachyonychia Congenita 10
 
Pyruvate Carboxylase Deficiency Disease 65
Jadassohn-Lewandowski Syndrome 23
Jadassohn-Lewandowsky Syndrome 10
Pachyonychia Congenita, Type 2 65
Pachyonychia Congenita Type 1 10
Jackson-Lawler Syndrome 23
Pc 51

Characteristics:

Orphanet epidemiological data:

51
pachyonychia congenita:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:0050449
MeSH36 D053549
NCIt42 C84986
Orphanet51 2309
SNOMED-CT59 205600001, 39427000
ICD10 via Orphanet28 Q84.5
MESH via Orphanet37 D053549
UMLS via Orphanet66 C0265334
UMLS65 C0265334, C1706595, C1721007

Summaries for Pachyonychia Congenita

About this section
NIH Rare Diseases:45 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 steatocystoma multiplex and pachyonychia congenita 2, and has symptoms including hyperhidrosis, palmoplantar keratoderma and abnormality of the fingernails. An important gene associated with Pachyonychia Congenita is KRT16 (Keratin 16), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, tongue and lung, and related mouse phenotypes are digestive/alimentary and integument.

Genetics Home Reference:23 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:68 Pachyonychia congenita is an autosomal dominant skin disorder. more...

GeneReviews summary for NBK1280

Related Diseases for Pachyonychia Congenita

About this section

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 192)
idRelated DiseaseScoreTop Affiliating Genes
1steatocystoma multiplex31.0KRT16, KRT17, KRT6B
2pachyonychia congenita 212.8
3pachyonychia congenita 112.7
4pachyonychia congenita 412.7
5pachyonychia congenita 312.7
6krt16-related pachyonychia congenita12.4
7krt17-related pachyonychia congenita12.4
8krt6a-related pachyonychia congenita12.4
9krt6b-related pachyonychia congenita12.4
10breast cancer10.6
11neuronitis10.5
12lung cancer10.4
13hepatitis10.4
14leukemia10.4
15hepatitis c10.4
16retinitis10.4
17hypertensive heart disease10.4KRT16, KRT6A
18toxic shock syndrome10.3KRT6A, KRT6B
19strongyloidiasis10.3KRT6A, KRT6B
20myocardial infarction10.3
21hiv-110.3
22breast reconstruction10.3
23chronic granulomatous disease10.3
24liver disease10.3
25dementia10.3
26vascular disease10.3
27melanoma10.3
28cholecystitis10.3
29tuberculosis10.3
30histiocytoma10.3
31fibrous histiocytoma10.3
32peritonitis10.3
33fatty liver disease10.3
34sudden cardiac death10.3
35postsurgical hypothyroidism10.3KRT6A, KRT6B
36factitious disorder10.3KRT16, KRT6A
37contact dermatitis10.3FLG, KRT16
38skin squamous cell carcinoma10.2FLG, KRT16
39histoplasmosis10.2FLG, KRT5
40sclerosteosis 110.2KRT16, KRT17, KRT6B
41skin pilomatrix carcinoma10.2FLG, KRT5
42schizophrenia10.1
43neuroblastoma10.1
44colorectal cancer10.1
45neural tube defects10.1
46coronary artery disease10.1
47esophageal cancer10.1
48hepatitis c virus10.1
49renal cell carcinoma10.1
50diastrophic dysplasia10.1

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



Diseases related to pachyonychia congenita

Symptoms for Pachyonychia Congenita

About this section

Symptoms:

 51 (show all 25)
  • hyperhidrosis/increased sweating
  • palmoplantar hyperkeratosis/keratoderma
  • enanthema/aphtosa/aphta/leukoplakia
  • hair and scalp anomalies
  • nails anomalies
  • dysplastic/thick/grooved fingernails
  • dysplastic/thick/grooved toenails
  • abnormal nails colour/leukonychia/melanonychia
  • autosomal dominant inheritance
  • anomalies of teeth and dentition
  • multiple caries
  • ichthyosis/ichthyosiform dermatitis
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • skin tumors/lumps/epidermal cysts
  • absent/small fingernails/anonychia of hands
  • corneal dystrophy
  • cataract/lens opacification
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • alopecia
  • abnormal fingernails
  • hepatomegaly/liver enlargement (excluding storage disease)
  • laryngomalacia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance

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

Drugs & Therapeutics for Pachyonychia Congenita

About this section

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

(show all 22)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Miconazoleapproved, investigationalPhase 1, Phase 2302622916-47-84189
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
Desenex
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
Makesense
Micantin (nitrate)
Micatin
 
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
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
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
2
Sirolimusapproved, investigationalPhase 1, Phase 2179753123-88-95284616, 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
EverolimusapprovedPhase 1, Phase 21797159351-69-66442177
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
Afinitor Disperz
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
VOTUBIA
Zortress
everolimus
4
AcetylcholineexperimentalPhase 268951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
5Anti-Bacterial AgentsPhase 1, Phase 29140
6Anti-Infective AgentsPhase 1, Phase 217220
7Antibiotics, AntitubercularPhase 1, Phase 25971
8Pharmaceutical SolutionsPhase 2, Phase 17004
9Immunologic FactorsPhase 1, Phase 218483
10Antifungal AgentsPhase 1, Phase 23015
11Immunosuppressive AgentsPhase 1, Phase 210422
12Neurotransmitter AgentsPhase 214795
13OnabotulinumtoxinAPhase 2588
14Peripheral Nervous System AgentsPhase 218510
15Neuromuscular AgentsPhase 2922
16Botulinum ToxinsPhase 2616
17AbobotulinumtoxinAPhase 2588
18AnestheticsPhase 27385
19Botulinum Toxins, Type APhase 2588
20IncobotulinumtoxinAPhase 2599
21Cholinergic AgentsPhase 23243
22
Simvastatinapproved49379902-63-954454
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

About this section

Genetic tests related to Pachyonychia Congenita:

id Genetic test Affiliating Genes
1 Pachyonychia Congenita22 KRT6B

Anatomical Context for Pachyonychia Congenita

About this section

MalaCards organs/tissues related to Pachyonychia Congenita:

33
Skin, Tongue, Lung, Liver, Breast, Endothelial, T cells

Animal Models for Pachyonychia Congenita or affiliated genes

About this section

MGI Mouse Phenotypes related to Pachyonychia Congenita:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.5KRT16, KRT17, KRT5, KRT6B, SLURP1
2MP:00107717.4FZD6, GJB6, KRT16, KRT17, KRT5, KRT6B

Publications for Pachyonychia Congenita

About this section

Articles related to Pachyonychia Congenita:

(show top 50)    (show all 232)
idTitleAuthorsYear
1
Gastroschisis with Concomitant Jejuno-Ileal Atresia Complicated by Jejunal Perforation. (27123409)
2016
2
Avian influenza H9N2 seroprevalence among pig population and pig farm staff in Shandong, China. (25886647)
2015
3
BDNF pro-peptide actions facilitate hippocampal LTD and are altered by the common BDNF polymorphism Val66Met. (26015580)
2015
4
PAR1-activated astrocytes in the nucleus of the solitary tract stimulate adjacent neurons via NMDA receptors. (25589770)
2015
5
Chronic granulomatous disease presenting with ecthyma gangrenosum in a neonate. (25037808)
2014
6
Sexual Feelings Toward the Therapist Among Patients with Borderline Personality Disorder: A Case of Erotomanic Delusional Disorder. (25391585)
2014
7
Retrospective analysis of the effect of angiotensin II receptor blocker versus I^-blocker on aortic root growth in paediatric patients with Marfan syndrome. (24270746)
2014
8
Echocardiographic features of an atypical presentation of rapidly progressive cardiac amyloidosis. (23710304)
2013
9
A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism. (23527306)
2013
10
No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy. (22388279)
2012
11
Esophageal diverticulosis. (22916788)
2012
12
Clinical course and prognostic factors of children with Burkitt's lymphoma in a developing country: the experience of a single centre in Brazil. (23125545)
2012
13
AluYb8 insertion in the MUTYH gene and risk of early-onset breast and gastric cancers in the Chinese population. (22126480)
2011
14
RNF41 (Nrdp1) controls type 1 cytokine receptor degradation and ectodomain shedding. (21378310)
2011
15
Prediction of the risk of comorbid alcoholism in schizophrenia by interaction of common genetic variants in the corticotropin-releasing factor system. (21810631)
2011
16
XIAP antisense oligonucleotide (AEG35156) achieves target knockdown and induces apoptosis preferentially in CD34+38- cells in a phase 1/2 study of patients with relapsed/refractory AML. (20938744)
2011
17
Preliminary use of the Leo stent in the endovascular treatment of wide-necked cerebral aneurysms. (20849796)
2010
18
A signal-amplified electrochemical immunosensor for aflatoxin B(1) determination in rice. (19166807)
2009
19
Mizoribine may suppress bone erosion in patients with rheumatoid arthritis by inhibiting osteoclastogenesis. (19171130)
2009
20
Overexpression of EIF-5A2 is an independent predictor of outcome in patients of urothelial carcinoma of the bladder treated with radical cystectomy. (19155439)
2009
21
Churg-Strauss syndrome in childhood: a systematic literature review and clinical comparison with adult patients. (18639318)
2009
22
Growth hormone inhibition of glucose uptake in adipocytes occurs without affecting GLUT4 translocation through an insulin receptor substrate-2-phosphatidylinositol 3-kinase-dependent pathway. (19122000)
2009
23
sICAM-1 intrathecal synthesis and release during the acute phase in children suffering from Coxsackie A9 and S. pneumoniae meningoencephalitis. (18813709)
2008
24
Relation of lymphatic microvessel density detected by monoclonal antibody D2-40 with VEGF-C expression in breast cancer]. (18953835)
2008
25
Prognostic indicators of quality of life after cholecystectomy for biliary dyskinesia. (18481495)
2008
26
New recommendations to reduce the risk of sudden infant death syndrome. (16523040)
2006
27
DDX3, a DEAD box RNA helicase with tumor growth-suppressive property and transcriptional regulation activity of the p21waf1/cip1 promoter, is a candidate tumor suppressor. (16818630)
2006
28
The role of lymphadenectomy in penile cancer. (15271324)
2004
29
LRP gene expression and its clinical significance in childhood acute leukemia]. (14723828)
2003
30
Regulation of nitric oxide and bcl-2 expression by shear stress in human osteoarthritic chondrocytes in vitro. (12938158)
2003
31
Level of Id-1 protein expression correlates with poor differentiation, enhanced malignant potential, and more aggressive clinical behavior of epithelial ovarian tumors. (12576450)
2003
32
Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation. (12032820)
2002
33
Enterocolitis caused by methicillin-resistant Staphylococcus aureus: molecular characterization of respiratory and digestive tract isolates. (11694074)
2001
34
Human types 1 and 3 3 alpha-hydroxysteroid dehydrogenases: differential lability and tissue distribution. (11158055)
2001
35
Popliteal artery thrombosis secondary to exostosis of the tibia. (11769154)
2001
36
Homozygous deletions and point mutations of the Ikaros gene in gamma-ray-induced mouse thymic lymphomas. (10597273)
1999
37
Neck skin sporotrichosis after electrolysis. (9462788)
1998
38
Isolation and characterization of the 5'-upstream region of the human N-type calcium channel alpha1B subunit gene. Chromosomal localization and promoter analysis. (9030575)
1997
39
Defects in human methionine synthase in cblG patients. (8968736)
1996
40
The lipoic acid containing components of the 2-oxoacid dehydrogenase complexes mimic trifluoroacetylated proteins and are autoantigens associated with halothane hepatitis. (7548757)
1995
41
Cyclin A and Cdk2 kinase activity are suppressed by combined treatment with tumor necrosis factor-alpha and interferon-alpha. (7654228)
1995
42
Southeast Asian ovalocytosis in an African-American family. (7919393)
1994
43
Increased binding of synovial T lymphocytes from rheumatoid arthritis to endothelial-leukocyte adhesion molecule-1 (ELAM-1) and vascular cell adhesion molecule-1 (VCAM-1). (1373738)
1992
44
Appearance of lectin binding affinity to the zona pellucida during hamster oocyte maturation. (1747897)
1991
45
Rotational diffusion effects on absorbance measurements: limitations to the magic-angle approach. (1775534)
1991
46
Nucleotide sequence of the cDNA encoding human tyrosinase-related protein. (2111010)
1990
47
Endemic goiter and iodine deficiency in Yugoslavia. (2768765)
1989
48
The genes for two neuromuscular diseases of the mouse, 'arrested development of righting response', adr, and 'myotonia', mto, are allelic. (3243424)
1988
49
Efficacies of four antifungal agents in experimental murine sporotrichosis. (2855294)
1988
50

Variations for Pachyonychia Congenita

About this section

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

About this section
Search GEO for disease gene expression data for Pachyonychia Congenita.

Pathways for genes affiliated with Pachyonychia Congenita

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.2KRT16, KRT17, KRT2, KRT5, KRT6A

GO Terms for genes affiliated with Pachyonychia Congenita

About this section

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.0KRT2, KRT9
2keratin filamentGO:00450958.7KRT2, KRT5, KRT6A

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

idNameGO IDScoreTop Affiliating Genes
1establishment of skin barrierGO:00614369.8FLG, KRT16
2intermediate filament cytoskeleton organizationGO:00451049.7KRT16, KRT6A
3epidermis developmentGO:00085449.0KRT16, KRT17, KRT9

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.5FLG, KRT16, KRT6A

Sources for Pachyonychia Congenita

About this section
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