MCID: CNG008
MIFTS: 51

Congenital Ichthyosiform Erythroderma malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases categories

Aliases & Classifications for Congenital Ichthyosiform Erythroderma

About this section
Sources:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10
See all sources

Aliases & Descriptions for Congenital Ichthyosiform Erythroderma:

Name: Congenital Ichthyosiform Erythroderma 10 45 12
Lamellar Ichthyosis 10 45 23 51
Nonbullous Congenital Ichthyosiform Erythroderma 10 45 23
Ichthyosis, Lamellar 23 36
Cie 45 51
Li 23 51
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form 45
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 45
Congenital Non Bullous Ichthyosiform Erythroderma 10
Non-Bullous Congenital Ichthyosiform Erythroderma 51
Congenital Non-Bullous Ichthyosiform Erythroderma 51
Congenital Nonbullous Ichthyosiform Erythroderma 23
Ichthyosiform Erythroderma Nonbullous Congenital 47
Ichthyosiform Erythroderma, Congenital 65
 
Ichthyosiform Erythroderma Congenital 47
Ichthyosis--Cheek--Eyebrow Syndrome 65
Congenital Lamellar Ichthyosis 51
Classic Lamellar Ichthyosis 51
Ichthyosiform Erythroderma 10
Erythrodermic Ichthyosis 51
Collodion Baby Syndrome 23
Ichthyoses, Lamellar 23
Collodion Fetus 65
Alligator Skin 10
Collodion Baby 23
Nbcie 45
Ncie 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
lamellar ichthyosis:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: early childhood
cie:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

Disease Ontology10 DOID:1699
MeSH36 D017490
NCIt42 C84805
Orphanet51 313, 79394
ICD10 via Orphanet28 Q80.2
MESH via Orphanet37 D017490
UMLS via Orphanet66 C0079154
ICD1027 Q80.2

Summaries for Congenital Ichthyosiform Erythroderma

About this section
Genetics Home Reference:23 Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their body. Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems. Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to sweat (hypohidrosis), an increased sensitivity to heat, and a thickening of the skin on the palms of the hands and soles of the feet (keratoderma). Less frequently, affected individuals have reddened skin (erythema) and joint deformities (contractures).

MalaCards based summary: Congenital Ichthyosiform Erythroderma, also known as lamellar ichthyosis, is related to epidermolytic hyperkeratosis and ichthyosis, autosomal recessive 4b, and has symptoms including abnormality of the eyelid, dry skin and hyperkeratosis. An important gene associated with Congenital Ichthyosiform Erythroderma is ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type), and among its related pathways is Prostaglandin 2 biosynthesis and metabolism FM. Affiliated tissues include skin, eye and kidney, and related mouse phenotypes are growth/size/body and mortality/aging.

NIH Rare Diseases:45 Lamellar ichthyosis is a rare genetic skin disorder in which the skin cells are produced at a normal rate, but they do not separate normally at the surface of the skin and are not shed as quickly as they should be; this results in the formation of scales. lamellar ichthyosis is present at birth; many babies born with the condition are covered with a clear membrane (the collodion) and have skin that can be red or dark, tight and split. the eyelids and lips may be forced open by the tightness of the skin (which may continue into adulthood), and there may be contractures around the fingers. other signs and symptoms may include problems with temperature regulation, water loss, secondary infections, thickened nails, and hair loss. the condition may be caused by mutations in any of several different genes and is usually inherited in an autosomal recessive manner. treatment may include moisturizers, keratolytics, and oral synthetic retinoids (in severe cases). last updated: 6/23/2011

Related Diseases for Congenital Ichthyosiform Erythroderma

About this section

Diseases related to Congenital Ichthyosiform Erythroderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolytic hyperkeratosis31.4ABCA12, KRT1, KRT10, KRT2, LOR, TGM1
2ichthyosis, autosomal recessive 4b31.2ABCA12, TGM1
3ichthyosis, congenital, autosomal recessive 331.2ALOX12B, ALOXE3, TGM1
4ichthyosis bullosa of siemens31.1KRT1, KRT10, KRT2
5ichthyosis vulgaris30.9ABCA12, KRT1, LOR, TGM1
6ichthyosis, cyclic, with epidermolytic hyperkeratosis30.9KRT1, KRT10
7pili torti30.9KRT1, KRT10
8ichthyosis lamellar 230.5ALOX12B, ALOXE3, IVL, KRT10, SPINK5, TGM1
9ichthyosis10.9
10ectropion10.7
11ichthyosis, congenital, autosomal recessive 210.6
12ichthyosis, congenital, autosomal recessive 4a10.6
13ichthyosis, congenital, autosomal recessive 1010.6
14ichthyosis, congenital, autosomal recessive 1110.6
15ichthyosis, congenital, autosomal recessive 110.6
16ichthyosis, congenital, autosomal recessive 910.6
17ichthyosis, congenital, autosomal recessive 610.5
18ichthyosis, congenital, autosomal recessive 810.5
19ichthyosis, congenital, autosomal recessive 510.5
20ichthyosiform erythroderma, corneal involvement, deafness10.5
21cicatricial ectropion10.5
22trichothiodystrophy 1, photosensitive10.4
23netherton syndrome10.4
24rickets10.4
25pseudoainhum10.4
26bathing suit ichthyosis10.4
27gaucher's disease10.4
28frontotemporal lobar degeneration with ubiquitin-positive inclusions10.3KRT1, KRT10
29perinatal jaundice due to hepatocellular damage10.3ABCA12, TGM1
30malouf syndrome10.3LOR, TGM1
31pityriasis rubra pilaris10.3
32ichthyosis with confetti10.3
33ichthyosis lamellar 110.3
34ichthyosis lamellar 310.3
35basal cell carcinoma10.3
36ichthyosis lamellar, autosomal dominant10.3
37vulvar clear cell hidradenocarcinoma10.3KRT1, KRT10
38elective mutism10.3IVL, TGM1
39braddock syndrome10.3IVL, KRT1
40blunt duct adenosis of breast10.3KRT1, KRT10
41white sponge nevus 110.3KRT1, KRT10, KRT2
42chanarin-dorfman syndrome10.3
43keratitis10.3
44ichthyosis, congenital, autosomal recessive 710.3
45palmoplantar keratoderma, epidermolytic10.3
46ichthyosis, x-linked10.3
47chondrodysplasia punctata, x-linked dominant10.3
48child syndrome10.3
49mycosis fungoides10.3
50ocular albinism10.3

Graphical network of the top 20 diseases related to Congenital Ichthyosiform Erythroderma:



Diseases related to congenital ichthyosiform erythroderma

Symptoms for Congenital Ichthyosiform Erythroderma

About this section

Symptoms:

 51 (show all 31)
  • absent/decreased/thin eyebrows
  • ectropion/entropion/eyelid eversion
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • dry/squaly skin/exfoliation
  • ichthyosis/ichthyosiform dermatitis
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • pruritus/itching
  • tight skin/lack of elasticity
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • decreased body hair/axillar/pubic hairlessness
  • nails anomalies
  • autosomal recessive inheritance
  • everted lower lip
  • helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • chronic/relapsing otitis
  • repeat respiratory infections
  • gangrena/necrosis
  • renal failure
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • musculo-tendinous retractions
  • short stature/dwarfism/nanism
  • dehydration/hydroelectrolytic loss
  • sepsis severe/septicemia
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • corneal ulceration/perforation
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • hearing loss/hypoacusia/deafness
  • palmoplantar hyperkeratosis/keratoderma
  • alopecia
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Congenital Ichthyosiform Erythroderma:

(show all 27)
id Description Frequency HPO Source Accession
1 abnormality of the eyelid hallmark (90%) HP:0000492
2 dry skin hallmark (90%) HP:0000958
3 hyperkeratosis hallmark (90%) HP:0000962
4 pruritus hallmark (90%) HP:0000989
5 abnormality of the nail hallmark (90%) HP:0001597
6 ichthyosis hallmark (90%) HP:0008064
7 abnormal hair quantity hallmark (90%) HP:0011362
8 lack of skin elasticity hallmark (90%) HP:0100679
9 aplasia/hypoplasia of the eyebrow hallmark (90%) HP:0100840
10 hypohidrosis hallmark (90%) HP:0000966
11 everted lower lip vermilion typical (50%) HP:0000232
12 abnormality of the helix typical (50%) HP:0011039
13 hearing impairment typical (50%) HP:0000365
14 palmoplantar keratoderma typical (50%) HP:0000982
15 alopecia typical (50%) HP:0001596
16 abnormality of the nail typical (50%) HP:0001597
17 inflammatory abnormality of the eye typical (50%) HP:0100533
18 corneal erosion typical (50%) HP:0200020
19 renal insufficiency occasional (7.5%) HP:0000083
20 abnormality of the teeth occasional (7.5%) HP:0000164
21 otitis media occasional (7.5%) HP:0000388
22 dehydration occasional (7.5%) HP:0001944
23 recurrent respiratory infections occasional (7.5%) HP:0002205
24 short stature occasional (7.5%) HP:0004322
25 cognitive impairment occasional (7.5%) HP:0100543
26 gangrene occasional (7.5%) HP:0100758
27 sepsis occasional (7.5%) HP:0100806

Drugs & Therapeutics for Congenital Ichthyosiform Erythroderma

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Drugs for Congenital Ichthyosiform Erythroderma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BezafibrateapprovedPhase 41141859-67-039042
Synonyms:
2-(4-{2-[(4-chlorobenzoyl)amino]ethyl}phenoxy)-2-methylpropanoic acid
2-(P-(2-(P-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-(p-(2-(p-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-[4-(2-[4-Chlorobenzamido]ethyl)- phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]isobutyric Acid
2-[4-[2-[(4-chlorobenzoyl)amino]ethyl]phenoxy]-2-methylpropanoic acid
41859-67-0
AB00052265
AB1004588
AC-6817
AC1L20XS
AC1Q5E4V
AKOS005107743
Azufibrat
Azupharma Brand of Bezafibrate
B3346
B7273_SIGMA
BF-759
BM 15.075
BM 15075
BM-15.075
BM-15075
BM15.075
BPBio1_000589
BRD-K46018455-001-06-0
BRN 4267656
BSPBio_000535
BSPBio_001314
BSPBio_003119
Bayer Brand of Bezafibrate
Befibrat
Befizal
Berlin Chemie Brand of Bezafibrate
Berlin-Chemie Brand of Bezafibrate
Betapharm Brand of Bezafibrate
Beza Lande
Beza Puren
Beza-Lande
Beza-Puren
BezaLande
BezaPuren
Bezabeta
Bezacur
Bezafibrat
Bezafibrat PB
Bezafibrate (JP15/USAN/INN)
Bezafibrate Azupharma Brand
Bezafibrate Bayer Brand
Bezafibrate Berlin-Chemie Brand
Bezafibrate Betapharm Brand
Bezafibrate Cryopharma Brand
Bezafibrate Elfar Brand
Bezafibrate Hennig Brand
Bezafibrate Hexal Brand
Bezafibrate Isis Brand
Bezafibrate Lakeside Brand
Bezafibrate Merckle Brand
Bezafibrate Roche Brand
Bezafibrate Synthelabo Brand
Bezafibrate TAD Brand
Bezafibrate Teva Brand
Bezafibrate [USAN:BAN:INN:JAN]
Bezafibrato
Bezafibrato [INN-Spanish]
Bezafibrato [Spanish]
Bezafibrato [inn-spanish]
Bezafibratum
Bezafibratum [INN-Latin]
Bezafibratum [inn-latin]
Bezafisal
Bezalip
Bezalip Retard
Bezamerck
Bezatol
Bezatol SR
Bezatol SR (TN)
Bezatol sr (tn)
Bio2_000034
Bio2_000514
Boehringer Mannheim Brand of Bezafibrate
C19H20ClNO4
CAS-41859-67-0
CCRIS 9085
CHEBI:47612
 
CHEMBL264374
CID39042
Cedur
Cryopharma Brand of Bezafibrate
D001629
D01366
DB01393
DB08380
Difaterol
DivK1c_000092
EINECS 255-567-9
Elfar Brand of Bezafibrate
Eulitop
HMS1361B16
HMS1569K17
HMS1791B16
HMS1921H16
HMS1989B16
HMS2089F04
HMS2092B12
HMS500E14
Hennig Brand of Bezafibrate
Hexal Brand of Bezafibrate
I06-1311
IDI1_000092
IDI1_033784
Isis Brand of Bezafibrate
KBio1_000092
KBio2_000034
KBio2_001923
KBio2_002602
KBio2_004491
KBio2_005170
KBio2_007059
KBio3_000067
KBio3_000068
KBio3_002619
KBioGR_000034
KBioGR_000669
KBioSS_000034
KBioSS_001923
LO 44
LS-124535
Lakeside Brand of Bezafibrate
Lipox
MLS000028533
MLS001148205
Merckle Brand of Bezafibrate
MolPort-001-738-424
NCGC00016850-01
NCGC00016850-02
NCGC00016850-11
NCGC00023317-03
NCGC00023317-04
NCGC00023317-05
NCGC00023317-06
NCGC00023317-07
NCGC00023317-08
NINDS_000092
PB, Bezafibrat
Prestwick0_000378
Prestwick1_000378
Prestwick2_000378
Prestwick3_000378
Prestwick_724
Reducterol
Regadrin B
Roche Brand of Bezafibrate
SMR000058298
SPBio_000824
SPBio_002456
SPECTRUM1502046
ST51014927
Sklerofibrat
Solibay
Spectrum2_000922
Spectrum3_001500
Spectrum4_000325
Spectrum5_001079
Spectrum5_001967
Spectrum_001443
Synthelabo Brand of Bezafibrate
TAD Brand of Bezafibrate
Teva Brand of Bezafibrate
a-[4-(4-chlorobenzoylaminoethyl)phenoxy]isobutyric acid
bezafibrate
durabezur
2Clofibric AcidPhase 418882-09-7
3liarozolePhase 2, Phase 31
4MonolaurinPhase 32
5EmollientsPhase 3113
6
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
7
Tacrolimusapproved, investigationalPhase 1, Phase 2992104987-11-3445643, 439492, 445647, 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
8
AdalimumabapprovedPhase 2411331731-18-116219006
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
9Phase 2

Interventional clinical trials:

(show all 24)
idNameStatusNCT IDPhase
1The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)CompletedNCT01527318Phase 4
2Evaluating Results of Neusidl Corneal Inserter in Descemet's Stripping Automated Endothelial Keratoplasty (DSAEK)Active, not recruitingNCT01357122Phase 4
3Phase III Study of Monolaurin Cream Therapy for Patients With Congenital IchthyosisCompletedNCT00004690Phase 3
4Efficacy and Safety of Two Doses of Liarozole vs. Placebo for the Treatment of Lamellar IchthyosisCompletedNCT00282724Phase 2, Phase 3
5Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine CutaneousNot yet recruitingNCT01222000Phase 3
6Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton SyndromeCompletedNCT00208026Phase 1, Phase 2
7A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS)RecruitingNCT02402309Phase 2
8Clinical Trial Using Humira in Netherton SyndromeRecruitingNCT02113904Phase 2
9A Study Investigating the Safety, Tolerability, and Efficacy of MTP-131 Topical Ophthalmic Solution for the Treatment of Fuchs' Corneal Endothelial Dystrophy (FCED)RecruitingNCT02653391Phase 1, Phase 2
10A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton SyndromeCompletedNCT01428297Phase 1
11Gene Therapy for Netherton SyndromeRecruitingNCT01545323Phase 1
12Study of Scaling Disorders and Other Inherited Skin DiseasesCompletedNCT00001292
13Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and LensCompletedNCT00001161
14A Multi-center, Prospective Evaluation of Infants and Children With Congenital IchthyosisRecruitingNCT02655861
15Natural History and Biological Study of Netherton SyndromeRecruitingNCT02081313
16Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK)RecruitingNCT02020044
17Study of Endothelial Keratoplasty OutcomesRecruitingNCT00800111
18Specular Microscopy StudyRecruitingNCT02478970
19The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal DystrophyRecruitingNCT01795001
20Early Experience With Descemet's Stripping Automated Endothelial KeratoplastyRecruitingNCT00744796
21National Registry for Ichthyosis and Related DisordersActive, not recruitingNCT00074685
22Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and PathologyActive, not recruitingNCT01979250
23Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyNot yet recruitingNCT02635269
24Assessment of Corneal Graft Attachment in Patients With Fuchs Endothelial Corneal Dystrophy Following DMEK Using Ultra-high Resolution OCTNot yet recruitingNCT02542644

Search NIH Clinical Center for Congenital Ichthyosiform Erythroderma


Cochrane evidence based reviews: Ichthyosis, Lamellar

Genetic Tests for Congenital Ichthyosiform Erythroderma

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Anatomical Context for Congenital Ichthyosiform Erythroderma

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MalaCards organs/tissues related to Congenital Ichthyosiform Erythroderma:

33
Skin, Eye, Kidney, Testes, Endothelial

Animal Models for Congenital Ichthyosiform Erythroderma or affiliated genes

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MGI Mouse Phenotypes related to Congenital Ichthyosiform Erythroderma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.0ABCA12, ABHD5, ALOXE3, CERS3, KRT1, KRT10
2MP:00107687.9ABCA12, ABHD5, ALOX12B, ALOXE3, CERS3, KRT1
3MP:00053767.9ABCA12, ABHD5, ALOX12B, ALOXE3, CERS3, KRT1
4MP:00107717.1ABCA12, ABHD5, ALOX12B, ALOXE3, CERS3, KRT1

Publications for Congenital Ichthyosiform Erythroderma

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Articles related to Congenital Ichthyosiform Erythroderma:

(show top 50)    (show all 111)
idTitleAuthorsYear
1
Dental Treatment of a Child Suffering from Non-bullous Congenital Ichthyosiform Erythroderma under General Anesthesia. (26379388)
2015
2
Non-bullous congenital ichthyosiform erythroderma. (25129016)
2014
3
Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma. (23682801)
2013
4
Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: results from a nationwide survey. (23182068)
2013
5
Bullous congenital ichthyosiform erythroderma with rickets: a rare association. (24320759)
2013
6
Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma. (21729033)
2012
7
Development of multiple non-melanoma skin carcinomas in a patient with non-bullous congenital ichthyosiform erythroderma. (21352327)
2011
8
Bullous congenital ichthyosiform erythroderma. (22253153)
2011
9
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. (19930990)
2009
10
ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. (19262603)
2009
11
Cutaneous malignant fibrous histiocytoma (undifferentiated pleomorphic sarcoma) arising in a chronic scalp ulcer of a patient with non-bullous congenital ichthyosiform erythroderma. (18435726)
2009
12
Multiple aggressive squamous skin cancers in association with nonbullous congenital ichthyosiform erythroderma. (18279460)
2008
13
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. (18219278)
2008
14
Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. (18284401)
2008
15
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens. (17970808)
2008
16
Bullous congenital ichthyosiform erythroderma of Brocq. (17973888)
2007
17
Severe bilateral rachitic genu valgum in patients with nonbullous congenital ichthyosiform erythroderma: a report of two cases and review of literature. (17909341)
2007
18
New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy. (17596149)
2007
19
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma. (16792775)
2006
20
A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome. (16901309)
2006
21
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1. (16361731)
2005
22
DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings. (15583602)
2004
23
Squamous cell carcinoma in a patient with non-bullous congenital ichthyosiform erythroderma. (12588401)
2003
24
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. (12780701)
2003
25
Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma. (12823447)
2003
26
Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma. (11531841)
2001
27
Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby. (11703298)
2001
28
Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband. (11559215)
2001
29
Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. (11167973)
2000
30
Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma. (11204523)
2000
31
Cholesteatoma in a child with congenital ichthyosiform erythroderma. (10428408)
1999
32
Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma. (10232402)
1999
33
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. (9856845)
1998
34
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. (9887377)
1998
35
Congenital ichthyosiform erythroderma with Trichophyton rubrum infection. (7896368)
1994
36
Evidence of increased keratinocyte proliferation in air-liquid interface cultures of non-bullous congenital ichthyosiform erythroderma. (7506468)
1993
37
A mother and two children with nonbullous congenital ichthyosiform erythroderma. (3707173)
1986
38
Absence of vacuolization of upper epidermal cells in nonbullous congenital ichthyosiform erythroderma. (3980795)
1985
39
Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis. (6736251)
1984
40
Fractionation and characterization of the epidermal stratum corneum in bullous congenital ichthyosiform erythroderma (BCIE). (6199395)
1983
41
Congenital ichthyosiform erythroderma and lamellar ichthyosis: two patients contrasted. (4273033)
1973
42
Congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis). (4247929)
1970
43
Bullous congenital ichthyosiform erythroderma. (5358134)
1969
44
Congenital ichthyosiform erythroderma. (5923456)
1966
45
Congenital ichthyosiform erythroderma treated by hypnosis. (5907436)
1966
46
Black piedra in a child with pili torti, bamboo hair and congenital ichthyosiform erythroderma. (13767211)
1961
47
Spastic quadriplegia combined with congenital ichthyosiform erythroderma and oligophrenia. (13594021)
1958
48
Bullous congenital ichthyosiform erythroderma. (13050146)
1953
49
Congenital ichthyosiform erythroderma. (14782713)
1950
50
Primary exfoliative dermatitis; Leiner's disease; congenital ichthyosiform erythroderma. (18886309)
1948

Variations for Congenital Ichthyosiform Erythroderma

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Clinvar genetic disease variations for Congenital Ichthyosiform Erythroderma:

5 (show all 82)
id Gene Variation Type Significance SNP ID Assembly Location
1TGM1TGM1, 1-BP DEL, 4640TdeletionPathogenic
2TGM1TGM1, IVS5, A-G, -2single nucleotide variantPathogenic
3TGM1NM_000359.2(TGM1): c.125C> A (p.Ser42Tyr)single nucleotide variantPathogenicrs41295338GRCh37Chr 14, 24731434: 24731434
4TGM1NM_000359.2(TGM1): c.428G> A (p.Arg143His)single nucleotide variantPathogenicrs121918719GRCh37Chr 14, 24730981: 24730981
5TGM1NM_000359.2(TGM1): c.479C> G (p.Ser160Cys)single nucleotide variantPathogenicrs121918728GRCh37Chr 14, 24730930: 24730930
6TGM1NM_000359.2(TGM1): c.424C> T (p.Arg142Cys)single nucleotide variantPathogenicrs121918716GRCh37Chr 14, 24730985: 24730985
7TGM1NM_000359.2(TGM1): c.968G> A (p.Arg323Gln)single nucleotide variantPathogenicrs121918717GRCh37Chr 14, 24728926: 24728926
8TGM1NM_000359.2(TGM1): c.425G> A (p.Arg142His)single nucleotide variantPathogenicrs121918718GRCh37Chr 14, 24730984: 24730984
9TGM1NM_000359.2(TGM1): c.1135G> C (p.Val379Leu)single nucleotide variantPathogenicrs121918720GRCh37Chr 14, 24728305: 24728305
10TGM1NM_000359.2(TGM1): c.1187G> T (p.Arg396Leu)single nucleotide variantPathogenicrs121918721GRCh37Chr 14, 24727852: 24727852
11TGM1NM_000359.2(TGM1): c.1147G> A (p.Val383Met)single nucleotide variantPathogenicrs121918722GRCh37Chr 14, 24728293: 24728293
12TGM1NM_000359.2(TGM1): c.1166G> A (p.Arg389His)single nucleotide variantPathogenicrs121918723GRCh37Chr 14, 24727873: 24727873
13TGM1TGM1, 1-BP DEL, 9008AdeletionPathogenic
14TGM1NM_000359.2(TGM1): c.1469A> G (p.Asp490Gly)single nucleotide variantPathogenicrs121918724GRCh37Chr 14, 24725217: 24725217
15TGM1NM_000359.2(TGM1): c.832G> A (p.Gly278Arg)single nucleotide variantPathogenicrs121918725GRCh37Chr 14, 24729190: 24729190
16TGM1NM_000359.2(TGM1): c.1175G> A (p.Gly392Asp)single nucleotide variantPathogenicrs121918726GRCh37Chr 14, 24727864: 24727864
17TGM1TGM1, ARG142PR0undetermined variantPathogenic
18TGM1NM_000359.2(TGM1): c.857G> A (p.Arg286Gln)single nucleotide variantPathogenicrs121918727GRCh37Chr 14, 24729165: 24729165
19TGM1NM_000359.2(TGM1): c.1552G> A (p.Val518Met)single nucleotide variantPathogenicrs35312232GRCh37Chr 14, 24724663: 24724663
20TGM1NM_000359.2(TGM1): c.281G> A (p.Gly94Asp)single nucleotide variantPathogenicrs121918729GRCh37Chr 14, 24731278: 24731278
21TGM1NM_000359.2(TGM1): c.866A> C (p.Asn289Thr)single nucleotide variantPathogenicrs121918730GRCh37Chr 14, 24729156: 24729156
22TGM1NM_000359.2(TGM1): c.919C> T (p.Arg307Trp)single nucleotide variantPathogenicrs121918731GRCh37Chr 14, 24728975: 24728975
23TGM1NM_000359.2(TGM1): c.652G> A (p.Gly218Ser)single nucleotide variantPathogenicrs121918732GRCh37Chr 14, 24729761: 24729761
24NIPAL4NM_001099287.1(NIPAL4): c.433C> T (p.Arg145Ter)single nucleotide variantPathogenicrs199422216GRCh37Chr 5, 156890311: 156890311
25NIPAL4NIPAL4, ALA114ASNsingle nucleotide variantPathogenic
26NIPAL4NM_001099287.1(NIPAL4): c.527C> A (p.Ala176Asp)single nucleotide variantPathogenicrs199422217GRCh37Chr 5, 156895736: 156895736
27NIPAL4NIPAL4, IVS5, G-A, +1single nucleotide variantPathogenic
28ALOX12BNM_001139.2(ALOX12B): c.1579G> A (p.Val527Met)single nucleotide variantLikely pathogenicrs199545653GRCh37Chr 17, 7978988: 7978988
29NC_000017.11: g.8017293_8022591del5299deletionPathogenicGRCh38Chr 17, 8017293: 8022591
30ALOXE3NM_021628.2(ALOXE3): c.418C> T (p.Arg140Ter)single nucleotide variantPathogenicrs370031870GRCh38Chr 17, 8115623: 8115623
31TGM1NM_000359.2(TGM1): c.1363T> C (p.Trp455Arg)single nucleotide variantPathogenicGRCh38Chr 14, 24258324: 24258324
32ABCA12NM_173076.2(ABCA12): c.4142G> A (p.Gly1381Glu)single nucleotide variantPathogenicrs28940268GRCh37Chr 2, 215851287: 215851287
33ABCA12NM_173076.2(ABCA12): c.4139A> G (p.Asn1380Ser)single nucleotide variantPathogenicrs28940269GRCh37Chr 2, 215851290: 215851290
34ABCA12NM_173076.2(ABCA12): c.4951G> A (p.Gly1651Ser)single nucleotide variantPathogenicrs28940568GRCh37Chr 2, 215843554: 215843554
35ABCA12NM_173076.2(ABCA12): c.4541G> A (p.Arg1514His)single nucleotide variantPathogenicrs28940270GRCh37Chr 2, 215846949: 215846949
36ABCA12NM_173076.2(ABCA12): c.4615G> A (p.Glu1539Lys)single nucleotide variantPathogenicrs28940271GRCh37Chr 2, 215845332: 215845332
37LIPNLIPN, 2-BP DEL, 399GAdeletionPathogenic
38ALOXE3NM_001165960.1(ALOXE3): c.1894G> T (p.Val632Phe)single nucleotide variantPathogenicrs121434232GRCh37Chr 17, 8012556: 8012556
39ALOXE3NM_001165960.1(ALOXE3): c.1096C> T (p.Arg366Ter)single nucleotide variantPathogenicrs121434233GRCh37Chr 17, 8015495: 8015495
40ALOXE3NM_001165960.1(ALOXE3): c.1582C> A (p.Arg528Ser)single nucleotide variantPathogenicrs121434234GRCh37Chr 17, 8013529: 8013529
41TGM1NM_000359.2(TGM1): c.1303_1307delTTCCA (p.Phe435Cysfs)deletionPathogenicrs398122900GRCh37Chr 14, 24727586: 24727590
42TGM1NM_000359.2(TGM1): c.1744C> T (p.Gln582Ter)single nucleotide variantPathogenicrs397514522GRCh37Chr 14, 24724361: 24724361
43TGM1TGM1, -86C-Tsingle nucleotide variantPathogenic
44TGM1NM_000359.2(TGM1): c.305A> T (p.Asp102Val)single nucleotide variantPathogenicrs398122901GRCh37Chr 14, 24731254: 24731254
45TGM1TGM1, LEU204GLNundetermined variantPathogenic
46TGM1NM_000359.2(TGM1): c.826T> A (p.Tyr276Asn)single nucleotide variantPathogenicrs397514523GRCh37Chr 14, 24729196: 24729196
47TGM1NM_000359.2(TGM1): c.376C> T (p.Arg126Cys)single nucleotide variantPathogenicrs397514524GRCh37Chr 14, 24731033: 24731033
48TGM1NM_000359.2(TGM1): c.943C> T (p.Arg315Cys)single nucleotide variantPathogenicrs397514525GRCh37Chr 14, 24728951: 24728951
49TGM1NM_000359.2(TGM1): c.944G> A (p.Arg315His)single nucleotide variantPathogenicrs143473912GRCh37Chr 14, 24728950: 24728950
50TGM1NM_000359.2(TGM1): c.944G> T (p.Arg315Leu)single nucleotide variantPathogenicrs143473912GRCh37Chr 14, 24728950: 24728950
51TGM1NM_000359.2(TGM1): c.1075G> A (p.Val359Met)single nucleotide variantPathogenicrs202037016GRCh37Chr 14, 24728365: 24728365
52TGM1NM_000359.2(TGM1): c.1187G> A (p.Arg396His)single nucleotide variantPathogenicrs121918721GRCh37Chr 14, 24727852: 24727852
53TGM1NM_000359.2(TGM1): c.1923_1927+2deldeletionPathogenicrs398122902GRCh37Chr 14, 24724176: 24724182
54TGM1NM_000359.2(TGM1): c.1331dupA (p.Arg445Glufs)duplicationPathogenicrs398122903GRCh37Chr 14, 24727562: 24727562
55TGM1NM_000359.2(TGM1): c.2278C> T (p.Arg760Ter)single nucleotide variantPathogenicrs398122904GRCh37Chr 14, 24718695: 24718695
56TGM1NM_000359.2(TGM1): c.1223_1227delACACA (p.Asp408Valfs)deletionPathogenicrs398122905GRCh37Chr 14, 24727812: 24727816
57ALOX12BNM_001139.2(ALOX12B): c.340C> T (p.Arg114Trp)single nucleotide variantPathogenicrs397514526GRCh37Chr 17, 7989346: 7989346
58ALOX12BNM_001139.2(ALOX12B): c.1294C> T (p.Arg432Ter)single nucleotide variantPathogenicrs397514527GRCh37Chr 17, 7980043: 7980043
59ALOX12BNM_001139.2(ALOX12B): c.2036G> T (p.Arg679Leu)single nucleotide variantPathogenicrs397514528GRCh37Chr 17, 7976159: 7976159
60ALOX12BNM_001139.2(ALOX12B): c.1180G> A (p.Glu394Lys)single nucleotide variantPathogenicrs397514529GRCh37Chr 17, 7980403: 7980403
61ALOX12BNM_001139.2(ALOX12B): c.410T> A (p.Ile137Asn)single nucleotide variantPathogenicrs397514530GRCh37Chr 17, 7984448: 7984448
62ALOX12BNM_001139.2(ALOX12B): c.1207C> T (p.His403Tyr)single nucleotide variantPathogenicrs397514531GRCh37Chr 17, 7980376: 7980376
63ALOX12BALOX12B, IVS2, G-A, -1single nucleotide variantPathogenic
64ALOX12BNM_001139.2(ALOX12B): c.1642C> T (p.Arg548Trp)single nucleotide variantPathogenicrs397514532GRCh37Chr 17, 7978925: 7978925
65ALOX12BNM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys)single nucleotide variantPathogenicrs199766569GRCh37Chr 17, 7979005: 7979005
66ALOX12BNM_001139.2(ALOX12B): c.199A> T (p.Ile67Phe)single nucleotide variantPathogenicrs397514533GRCh37Chr 17, 7989487: 7989487
67ALOXE3NM_001165960.1(ALOXE3): c.1238G> T (p.Gly413Val)single nucleotide variantPathogenicrs786205120GRCh38Chr 17, 8111474: 8111474
68ALOXE3ALOXE3, PRO630LEUsingle nucleotide variantPathogenic
69ALOXE3ALOXE3, ARG145HISsingle nucleotide variantPathogenic
70ALOXE3ALOXE3, LEU427PROsingle nucleotide variantPathogenic
71CYP4F22CYP4F22, TRP521TERsingle nucleotide variantPathogenic
72PNPLA1PNPLA1, GLU131TERsingle nucleotide variantPathogenic
73PNPLA1PNPLA1, ALA59VALsingle nucleotide variantPathogenic
74CERS3NM_001290343.1(CERS3): c.609+1G> Tsingle nucleotide variantPathogenicrs587776996GRCh37Chr 15, 101016290: 101016290
75ALOX12BNM_001139.2(ALOX12B): c.1387delT (p.Phe463Leufs)deletionPathogenicrs387906349GRCh37Chr 17, 7979638: 7979638
76ALOX12BNM_001139.2(ALOX12B): c.1277T> C (p.Leu426Pro)single nucleotide variantPathogenicrs137853023GRCh37Chr 17, 7980060: 7980060
77ALOX12BNM_001139.2(ALOX12B): c.1734C> A (p.His578Gln)single nucleotide variantPathogenicrs137853024GRCh37Chr 17, 7976996: 7976996
78CERS3CERS3, TRP15ARGsingle nucleotide variantPathogenic
79CYP4F22NM_173483.3(CYP4F22): c.1303C> T (p.His435Tyr)single nucleotide variantPathogenicrs118203935GRCh37Chr 19, 15659981: 15659981
80CYP4F22NM_173483.3(CYP4F22): c.1306C> G (p.His436Asp)single nucleotide variantPathogenicrs118203936GRCh37Chr 19, 15659984: 15659984
81CYP4F22NM_173483.3(CYP4F22): c.728G> A (p.Arg243His)single nucleotide variantPathogenicrs118203937GRCh37Chr 19, 15651317: 15651317
82CYP4F22CYP4F22, EX3-12DELdeletionPathogenic

Expression for genes affiliated with Congenital Ichthyosiform Erythroderma

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Search GEO for disease gene expression data for Congenital Ichthyosiform Erythroderma.

Pathways for genes affiliated with Congenital Ichthyosiform Erythroderma

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Pathways related to Congenital Ichthyosiform Erythroderma according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2ALOX12B, ALOXE3

GO Terms for genes affiliated with Congenital Ichthyosiform Erythroderma

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Cellular components related to Congenital Ichthyosiform Erythroderma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1epidermal lamellar bodyGO:009720910.3ABCA12, SPINK5
2cornified envelopeGO:00015339.8IVL, LOR, TGM1
3intermediate filamentGO:00058829.5KRT1, KRT10, KRT2, KRT81
4keratin filamentGO:00450959.4KRT1, KRT10, KRT2, KRT81

Biological processes related to Congenital Ichthyosiform Erythroderma according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1hepoxilin biosynthetic processGO:005112210.9ALOX12B, ALOXE3
2lipoxygenase pathwayGO:001937210.7ALOX12B, ALOXE3
3linoleic acid metabolic processGO:004365110.5ALOX12B, ALOXE3
4ceramide biosynthetic processGO:004651310.5ALOX12B, ALOXE3, CERS3
5sphingolipid metabolic processGO:000666510.4ALOX12B, ALOXE3, CERS3
6establishment of skin barrierGO:006143610.4ABCA12, ALOX12B, ALOXE3, KRT1
7lipid metabolic processGO:00066299.9ABHD5, LIPN, PNPLA1, SC5D
8keratinizationGO:00314249.8ABCA12, IVL, KRT2, LOR, TGM1
9peptide cross-linkingGO:00181499.5IVL, LOR, TGM1
10oxidation-reduction processGO:00551149.4ALOX12B, ALOXE3, CYP4F22, NSDHL, SC5D
11keratinocyte differentiationGO:00302169.0ABCA12, CERS3, IVL, KRT10, LOR, ST14

Molecular functions related to Congenital Ichthyosiform Erythroderma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygenGO:001670210.6ALOX12B, ALOXE3
2iron ion bindingGO:00055069.7ALOX12B, ALOXE3, CYP4F22, SC5D
3structural molecule activityGO:00051989.2IVL, KRT1, KRT10, KRT2, KRT81, LOR

Sources for Congenital Ichthyosiform Erythroderma

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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