MCID: ICH018
MIFTS: 13

Ichthyosis Linearis Circumflexa malady

Category: Rare diseases

Aliases & Classifications for Ichthyosis Linearis Circumflexa

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Aliases & Descriptions for Ichthyosis Linearis Circumflexa:

Name: Ichthyosis Linearis Circumflexa 46 66

Classifications:



Summaries for Ichthyosis Linearis Circumflexa

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Wikipedia:69 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 trichorrhexis invaginata and disturbance of thermoregulation of newborn. An important gene associated with Ichthyosis Linearis Circumflexa is SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5). Affiliated tissues include skin.

Related Diseases for Ichthyosis Linearis Circumflexa

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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

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UMLS symptoms related to Ichthyosis Linearis Circumflexa:


trichorrhexis invaginata, disturbance of thermoregulation of newborn

Drugs & Therapeutics for Ichthyosis Linearis Circumflexa

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PimecrolimusPhase 1, Phase 262137071-32-06447131, 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
TacrolimusPhase 1, Phase 21058104987-11-3445643, 439492
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
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
Anhydrous tacrolimus
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
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 (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus anhydrous
Tacrolimus hydrate
Tacrolimus, anhydrous
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
3
adalimumabPhase 2466331731-18-116219006
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

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 SyndromeActive, not recruitingNCT02113904Phase 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

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Anatomical Context for Ichthyosis Linearis Circumflexa

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MalaCards organs/tissues related to Ichthyosis Linearis Circumflexa:

34
Skin

Animal Models for Ichthyosis Linearis Circumflexa or affiliated genes

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Publications for Ichthyosis Linearis Circumflexa

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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
A case of ichthyosis linearis circumflexa successfully treated with topical tacrolimus. (10688732)
2000
7
Clearance of ichthyosis linearis circumflexa with balneophototherapy. (11305383)
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
Explorations of antimitotic agents in the treatment of a congenital disease, ichthyosis linearis circumflexa. (439902)
1979
13
Ichthyosis linearis circumflexa. (479434)
1979
14
Ichthyosis linearis circumflexa ComA"l and Netherton's syndrome; an ultrastructural study. (467759)
1979
15
Ichthyosis linearis circumflexa comA"l. A clinico-statistical approach to its relationship with Netherton's syndrome. (4480416)
1974
16
Ichthyosis linearis circumflexa comA"l with trichorrhexis invaginata (Netherton's syndrome). A light microscopical study of the skin changes. (4480415)
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
Netherton's disease and ichthyosis linearis circumflexa. (5797972)
1969
22
Multiple defects of the hair shaft in Netherton's disease. Association with ichthyosis linearis circumflexa. (5359904)
1969
23
Neterton's syndrome and ichthyosis linearis circumflexa. (4242601)
1969

Variations for Ichthyosis Linearis Circumflexa

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Expression for genes affiliated with Ichthyosis Linearis Circumflexa

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Search GEO for disease gene expression data for Ichthyosis Linearis Circumflexa.

Pathways for genes affiliated with Ichthyosis Linearis Circumflexa

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GO Terms for genes affiliated with Ichthyosis Linearis Circumflexa

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Sources for Ichthyosis Linearis Circumflexa

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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