MCID: ICH018
MIFTS: 19

Ichthyosis Linearis Circumflexa malady

Category: Rare diseases

Aliases & Classifications for Ichthyosis Linearis Circumflexa

About this section

Aliases & Descriptions for Ichthyosis Linearis Circumflexa:

Name: Ichthyosis Linearis Circumflexa 45 65

Classifications:



Summaries for Ichthyosis Linearis Circumflexa

About this section
Wikipedia:68 Ichthyosis linearis circumflexa is a distinctive skin condition of generalized hyperkeratosis and... more...

MalaCards based summary: Ichthyosis Linearis Circumflexa is related to netherton syndrome and dwarfism, and has symptoms including disturbance of thermoregulation of newbornand trichorrhexis invaginata. An important gene associated with Ichthyosis Linearis Circumflexa is SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5). Affiliated tissues include skin, lung and endothelial.

Related Diseases for Ichthyosis Linearis Circumflexa

About this section

Diseases related to Ichthyosis Linearis Circumflexa via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1netherton syndrome12.1
2dwarfism10.3

Symptoms for Ichthyosis Linearis Circumflexa

About this section

UMLS symptoms related to Ichthyosis Linearis Circumflexa:


disturbance of thermoregulation of newborn, trichorrhexis invaginata

Drugs & Therapeutics for Ichthyosis Linearis Circumflexa

About this section

Drugs for Ichthyosis Linearis Circumflexa (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pimecrolimusapproved, investigationalPhase 1, Phase 260137071-32-06447131, 17753757
Synonyms:
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-3-((E)-2-((1R,3R,4S)-4-chloro-3-methoxycyclohexyl)-1-methylvinyl)-8-ethyl-5,6,8,11,12,13,14,15,16,17,18,19,24,26,26a-hexadecahydro-5,19-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclotricosine-1,17,20,21(4H,23H)-tetrone
137071-32-0
33-Epi-chloro-33-desoxyascomycin
33-epi-Chloro-33-desoxyascomycin
ASM 981
ASM-981
ASM-998
CHEMBL1200686
CID6447131
CID6509979
CID6916008
D05480
DB00337
 
Elidel
Elidel (TN)
I06-1252
LS-181798
MolPort-003-666-749
NCGC00167506-01
Pimecrolimus
Pimecrolimus (JAN/USAN/INN)
Pimecrolimus [USAN:INN:BAN]
Pimecrolimusum
S5004_Selleck
SDZ ASM 981
SDZ-ASM 981
SDZ-ASM-981
UNII-7KYV510875
2
Tacrolimusapproved, investigationalPhase 1, Phase 21023104987-11-3445643, 439492, 445647
Synonyms:
(-)-FK 506
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone
104987-11-3
109581-93-3 (Hydrate)
15,19-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclotricosine-1,7,20,21(23H)-tetrone,
3S-[3R*[E(1S*,3S*,4S*)],4S*,5R*,8S*,9E,12R*,14R*,15S*,16R*,18S*,19S*,26aR*]]-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-5, 19-dihydroxy-3-[2-(4-hydroxy-3-methoxycyclohexyl)-1-methylethenyl]-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(2-propenyl)-15,19-epoxy-3H-pyrido[2,1-c] [1,4] oxaazacyclotricosine-1,7,20,21(4H,23H)-tetrone
8-DEETHYL-8-[BUT-3-ENYL]-ASCOMYCIN
8-DEETHYL-8-[but-3-enyl]-ascomycin
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
BCBcMAP01_000194
BRD-K35452788-001-02-1
BSPBio-001279
BSPBio_001279
Bio-0921
Bio2_000470
Bio2_000950
C01375
C44H69NO10
CCRIS 7124
CHEBI:100924
CHEBI:61049
CHEMBL1200738
CID11158639
CID11556866
CID439492
CID445643
CID5372
CID5472317
CID6426916
CID6436007
CID6473866
CID6536850
CID6610362
CID6912836
CID9832283
CID9853905
CID9918805
CID9940643
CID9963169
CPD-10016
CPD000466356
D08556
DB00864
DivK1c_001040
FK 506
FK-506
FK5
FK506
FR 900506
FR-900506
FR900506
 
FT-0082660
Fk-506
Fujimycin
Graceptor
HMS1362O21
HMS1792O21
HMS1990O21
HMS2051C18
HMS2093M19
HMS503O21
Hecoria
IDI1_001040
IDI1_002225
K506
KBio1_001040
KBio2_000619
KBio2_003187
KBio2_005755
KBio3_001097
KBio3_001098
KBioGR_000619
KBioSS_000619
L 679934
L-679934
LCP-Tacro
LMPK04000003
LS-64247
MLS000759471
MLS001424054
Modigraf
MolPort-003-666-518
NCGC00163470-01
NCGC00163470-02
NCGC00163470-03
NCGC00163470-04
NCGC00179232-01
NChemBio.2007.16-comp1
NINDS_001040
NSC717865
Prograf
Prograf (TN)
Protopic
Protopy
S5003_Selleck
SAM001246677
SMR000466356
Tacarolimus
Tacrolimus
Tacrolimus (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus Hydrate
Tacrolimus anhydrous
Tacrolimus hydrate
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
3
AdalimumabapprovedPhase 2443331731-18-116219006
Synonyms:
331731-18-1
Adalimumab
Adalimumab (USAN/INN)
Adalimumab (genetical recombination)
 
Adalimumab (genetical recombination) (JAN)
D02597
Humira
Humira (TN)
Humira Pen
Ig gamma-1 chain C region
4Immunosuppressive AgentsPhase 1, Phase 210422
5Peripheral Nervous System AgentsPhase 1, Phase 218510
6Immunologic FactorsPhase 1, Phase 218483
7Dermatologic AgentsPhase 1, Phase 24555
8Anti-Inflammatory AgentsPhase 1, Phase 28478
9Analgesics, Non-NarcoticPhase 1, Phase 25184
10Anti-Inflammatory Agents, Non-SteroidalPhase 1, Phase 23549
11Antirheumatic AgentsPhase 1, Phase 28496
12Calcineurin InhibitorsPhase 1, Phase 21223
13AnalgesicsPhase 1, Phase 29358

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton SyndromeCompletedNCT00208026Phase 1, Phase 2
2Clinical Trial Using Humira in Netherton SyndromeRecruitingNCT02113904Phase 2
3A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton SyndromeCompletedNCT01428297Phase 1
4Gene Therapy for Netherton SyndromeRecruitingNCT01545323Phase 1
5Natural History and Biological Study of Netherton SyndromeRecruitingNCT02081313
6Natural History of Diseases Associated With Allergic Inflammation: Atopic Dermatitis and Genetic and Congenital Diseases Associated With Atopic PathwaysRecruitingNCT01164241

Search NIH Clinical Center for Ichthyosis Linearis Circumflexa

Genetic Tests for Ichthyosis Linearis Circumflexa

About this section

Anatomical Context for Ichthyosis Linearis Circumflexa

About this section

MalaCards organs/tissues related to Ichthyosis Linearis Circumflexa:

33
Skin, Lung, Endothelial, T cells, Neutrophil, Testis, Heart

Animal Models for Ichthyosis Linearis Circumflexa or affiliated genes

About this section

Publications for Ichthyosis Linearis Circumflexa

About this section

Articles related to Ichthyosis Linearis Circumflexa:

(show all 23)
idTitleAuthorsYear
1
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome. (25710899)
2015
2
Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy. (26848320)
2015
3
Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum. (25526335)
2014
4
Ichthyosis linearis circumflexa. (21220804)
2010
5
A Japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound heterozygous mutation in the SPINK5 gene. (16120162)
2005
6
Clearance of ichthyosis linearis circumflexa with balneophototherapy. (11305383)
2000
7
A case of ichthyosis linearis circumflexa successfully treated with topical tacrolimus. (10688732)
2000
8
Ichthyosis linearis circumflexa. (20948134)
1996
9
Ichthyosis linearis circumflexa: morphological and biochemical studies. (2579669)
1985
10
Successful therapy of ichthyosis linearis circumflexa with PUVA. (6863655)
1983
11
Ichthyosis linearis circumflexa [proceedings]. (7387896)
1980
12
Ichthyosis linearis circumflexa. (479434)
1979
13
Ichthyosis linearis circumflexa ComA"l and Netherton's syndrome; an ultrastructural study. (467759)
1979
14
Explorations of antimitotic agents in the treatment of a congenital disease, ichthyosis linearis circumflexa. (439902)
1979
15
Ichthyosis linearis circumflexa comA"l with trichorrhexis invaginata (Netherton's syndrome). A light microscopical study of the skin changes. (4480415)
1974
16
Ichthyosis linearis circumflexa comA"l. A clinico-statistical approach to its relationship with Netherton's syndrome. (4480416)
1974
17
Ichthyosis linearis circumflexa and Netherton's syndrome with idiopathic dwarfism. (4800202)
1973
18
Ichthyosis linearis circumflexa ComA"l with Trichorrhexis invaginata (Netherton's Syndrom): an ultrastructural study of the skin changes. (4678924)
1972
19
Netherton's disease and ichthyosis linearis circumflexa. Report of a case and review of the literature. (4115884)
1972
20
Netherton's syndrome and ichthyosis linearis circumflexa. (5467454)
1970
21
Neterton's syndrome and ichthyosis linearis circumflexa. (4242601)
1969
22
Netherton's disease and ichthyosis linearis circumflexa. (5797972)
1969
23
Multiple defects of the hair shaft in Netherton's disease. Association with ichthyosis linearis circumflexa. (5359904)
1969

Variations for Ichthyosis Linearis Circumflexa

About this section

Expression for genes affiliated with Ichthyosis Linearis Circumflexa

About this section
Search GEO for disease gene expression data for Ichthyosis Linearis Circumflexa.

Pathways for genes affiliated with Ichthyosis Linearis Circumflexa

About this section

GO Terms for genes affiliated with Ichthyosis Linearis Circumflexa

About this section

Sources for Ichthyosis Linearis Circumflexa

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