MCID: PCH001
MIFTS: 55

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

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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 liver, 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

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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 62)
idRelated DiseaseScoreTop Affiliating Genes
1steatocystoma multiplex31.8KRT16, KRT17, KRT6B
2pachyonychia congenita 212.4
3pachyonychia congenita 112.3
4pachyonychia congenita 412.3
5pachyonychia congenita 312.3
6krt16-related pachyonychia congenita12.0
7krt17-related pachyonychia congenita12.0
8krt6a-related pachyonychia congenita12.0
9krt6b-related pachyonychia congenita12.0
10hypertensive heart disease10.5KRT16, KRT6A
11toxic shock syndrome10.5KRT6A, KRT6B
12strongyloidiasis10.5KRT6A, KRT6B
13postsurgical hypothyroidism10.4KRT6A, KRT6B
14factitious disorder10.4KRT16, KRT6A
15contact dermatitis10.4FLG, KRT16
16skin squamous cell carcinoma10.3FLG, KRT16
17laryngitis10.3
18histoplasmosis10.3FLG, KRT5
19sclerosteosis 110.2KRT16, KRT17, KRT6B
20skin pilomatrix carcinoma10.2FLG, KRT5
21bowenoid papulosis10.2FLG, KRT16, KRT17
22alopecia10.2
23colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.2FLG, KRT5
24rh deficiency syndrome10.1KRT17, KRT5
25hidradenitis suppurativa10.1
26hidradenitis10.1
27mitochondrial encephalomyopathy10.1FLG, KRT16, KRT17
28epilepsy benign neonatal dominant form10.0FLG, KRT2
29keratosis palmoplantaris striata iii10.0KRT16, KRT17, KRT9
30ewing sarcoma10.0
31b-cell lymphomas10.0
32skin disease10.0
33lymphoma10.0
34sarcoma10.0
35fissured tongue10.0
36tuberous sclerosis10.0
37patent ductus arteriosus10.0
38median rhomboid glossitis10.0
39glossitis10.0
40candidiasis10.0
41cheilitis10.0
42corneal dystrophy10.0
43dermatitis10.0
44epidermolysis bullosa10.0
45atopic dermatitis10.0
46epidermolysis bullosa simplex10.0
47amyloidosis10.0
48troyer syndrome10.0GJB6, SLURP1
49retinal cancer9.9KRT17, KRT5
50otosclerosis 49.9GJB6, SLURP1

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



Diseases related to pachyonychia congenita

Symptoms for Pachyonychia Congenita

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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

UMLS symptoms related to Pachyonychia Congenita:


hoarseness, seizures, hepatomegaly, clonus

Drugs & Therapeutics for Pachyonychia Congenita

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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

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Genetic tests related to Pachyonychia Congenita:

id Genetic test Affiliating Genes
1 Pachyonychia Congenita22 KRT6B

Anatomical Context for Pachyonychia Congenita

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MalaCards organs/tissues related to Pachyonychia Congenita:

33
Skin, Tongue, Liver, Breast, Lung, Heart, B cells

Animal Models for Pachyonychia Congenita or affiliated genes

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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

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Articles related to Pachyonychia Congenita:

(show top 50)    (show all 238)
idTitleAuthorsYear
1
Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients. (27041546)
2016
2
Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17. (24842198)
2014
3
Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2. (23855588)
2013
4
Pachyonychia congenita type 2: an unusual presentation. (23249838)
2013
5
Pachyonychia congenita tarda: A rare case report. (24124319)
2013
6
Best treatment practices for pachyonychia congenita. (23363249)
2013
7
A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. (22264670)
2012
8
Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16. (22098151)
2012
9
Pachyonychia congenita-associated alopecia. (23056978)
2012
10
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
11
Toward a treatment for pachyonychia congenita: report on the 7th Annual International Pachyonychia Congenita Consortium meeting. (21494242)
2011
12
Development of skin-humanized mouse models of pachyonychia congenita. (21150925)
2011
13
Paternal germ cell mosaicism in autosomal dominant pachyonychia congenita. (21576551)
2011
14
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. (21160496)
2011
15
Do you know this syndrome? Pachyonychia congenita. (22281922)
2011
16
Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita. (21390048)
2011
17
The 521 T--> C mutation in the keratin 6A gene in a pedigree with pachyonychia congenita type I]. (20140871)
2010
18
Oral manifestations of pachyonychia congenita. (21062597)
2010
19
Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1. (19416275)
2009
20
Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients. (19699613)
2009
21
Pachyonychia congenita tarda affecting only the nails. (18700115)
2008
22
Mice expressing a mutant Krt75 (K6hf) allele develop hair and nail defects resembling pachyonychia congenita. (17851587)
2008
23
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita. (18495438)
2008
24
Therapeutic interference: a step closer for pachyonychia congenita? (18071332)
2008
25
Pachyonychia congenita with unusual dental findings: a case report. (17577549)
2007
26
Mouse models in preclinical studies for pachyonychia congenita. (16250208)
2005
27
Pachyonychia congenita. Case report. (16456523)
2005
28
A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2. (15102078)
2004
29
Clouston syndrome can mimic pachyonychia congenita. (14708603)
2003
30
Pachyonychia congenita affecting only the nails. (11860585)
2002
31
Pachyonychia congenita: a case report. (11841652)
2001
32
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. (10839714)
2000
33
Avoiding Pachyonychia congenita using oocyte donation. (10026421)
1999
34
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. (9767294)
1998
35
Keratin 16 and keratin 17 mutations cause pachyonychia congenita. (7539673)
1995
36
Mutation of a type II keratin gene (K6a) in pachyonychia congenita. (7545493)
1995
37
Diagnosis and management of laryngeal obstruction in childhood pachyonychia congenita. (7729988)
1995
38
Pachyonychia congenita tarda. A late-onset form of pachyonychia congenita. (1827243)
1991
39
Etretinate-responsive pachyonychia congenita. (3191023)
1988
40
Pachyonychia congenita (Jadassohn-Lewandowsky syndrome). A review of 14 cases in Slovenia. (6456161)
1981
41
The pachyonychia congenita syndrome. (6153833)
1980
42
Cornoid lamella in pachyonychia congenita. (736589)
1978
43
Pachyonychia congenita Jadassohn-Lewandowsky: a disorder of keratinization. (74170)
1977
44
Pachyonychia congenita and steatocystoma multiplex. (577197)
1977
45
Pachyonychia congenita with cardiac involvement. (140628)
1977
46
Pachyonychia congenita in father and son. (5173283)
1971
47
Sodium laevothyroxine in pachyonychia congenita. (5705304)
1968
48
Oral lesions accompanying pachyonychia congenita. (13553304)
1958
49
Pachyonychia Congenita (Jadassohn and Lewandowski). (19991775)
1939
50

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
1
Show member pathways
8.2KRT16, KRT17, KRT2, 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
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

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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