CIE
MCID: ICH049
MIFTS: 43

Ichthyosis, Congenital, Autosomal Recessive 2 (CIE) malady

Genetic diseases, Skin diseases, Rare diseases, Eye diseases categories
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Summaries for Ichthyosis, Congenital, Autosomal Recessive 2

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MalaCards based summary: Ichthyosis, Congenital, Autosomal Recessive 2, also known as shcb, is related to congenital ichthyosiform erythroderma and acral self-healing collodion baby, and has symptoms including ichthyosis/ichthyosiform dermatitis, restricted joint mobility/joint stiffness/ankylosis and autosomal recessive inheritance. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 2 is ALOX12B (arachidonate 12-lipoxygenase, 12R type), and among its related pathways is Prostaglandin 2 biosynthesis and metabolism FM. The compounds 12(r)-hpete and lipid have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are growth/size/body and integument.

Descriptions from OMIM:46 242100, 242300, 606545, 612281, 615022 615023, 615024 more

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 2

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Ichthyosis, Congenital, Autosomal Recessive 2, Aliases & Descriptions:

Name: Ichthyosis, Congenital, Autosomal Recessive 2 46
Shcb 48 62
Congenital Non-Bullous Ichthyosiform Erythroderma 48
Non-Bullous Congenital Ichthyosiform Erythroderma 48
 
Self-Healing Collodion Baby 48
Erythrodermic Ichthyosis 48
Cie 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases, Eye diseases
Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
shcb:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
congenital non-bullous ichthyosiform erythroderma:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


External Ids:

ICD10 via Orphanet26 Q80.2
UMLS via Orphanet63 C0079154

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 2

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Diseases in the Ichthyosis, Congenital, Autosomal Recessive 2 family:

Autosomal Recessive Congenital Ichthyosis Abca12-Related Autosomal Recessive Congenital Ichthyosis
Tgm1-Related Autosomal Recessive Congenital Ichthyosis Aloxe3-Related Autosomal Recessive Congenital Ichthyosis
Alox12b-Related Autosomal Recessive Congenital Ichthyosis Nipal4-Related Autosomal Recessive Congenital Ichthyosis
Cyp4f22-Related Autosomal Recessive Congenital Ichthyosis Pnpla1-Related Autosomal Recessive Congenital Ichthyosis
Ichthyosis, Congenital, Autosomal Recessive 4a Ichthyosis, Autosomal Recessive 4b
Ichthyosis, Congenital, Autosomal Recessive 6 Ichthyosis, Congenital, Autosomal Recessive 10
Ichthyosis, Congenital, Autosomal Recessive 8 Ichthyosis, Congenital, Autosomal Recessive 11
Ichthyosis, Congenital, Autosomal Recessive 7 Ichthyosis, Congenital, Autosomal Recessive 1
Ichthyosis, Congenital, Autosomal Recessive 9 Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Congenital, Autosomal Recessive 5

Diseases related to Ichthyosis, Congenital, Autosomal Recessive 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1congenital ichthyosiform erythroderma30.5ALOX12B, ALOXE3, TGM1
2acral self-healing collodion baby10.7
3fibrous histiocytoma10.4
4ocular albinism10.4
5noonan syndrome10.4
6histiocytoma10.4
7keratosis10.4
8melanoma10.4
9sarcoma10.4
10seborrheic keratosis10.4
11albinism10.4
12ichthyosis vulgaris10.2TGM1
13cholera10.1
14bubonic plague10.1
15plague10.1
16harlequin type ichthyosis10.0ABCA12, TGM1
17ichthyosis lamellar 19.9ALOX12B, ALOXE3, TGM1
18ectropion9.8TGM1, ABCA12
19skin disease9.8ALOX12B, TGM1, ABCA12
20autosomal recessive congenital ichthyosis9.5NIPAL4, ABCA12, TGM1, ALOXE3, ALOX12B

Graphical network of diseases related to Ichthyosis, Congenital, Autosomal Recessive 2:



Diseases related to ichthyosis, congenital, autosomal recessive 2

Symptoms for Ichthyosis, Congenital, Autosomal Recessive 2

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Symptoms by clinical synopsis from OMIM:

242100

Clinical features from OMIM:

242100,242300,606545,612281,615022,615023,615024

Symptoms:

48 (show all 15)
  • ichthyosis/ichthyosiform dermatitis
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal recessive inheritance
  • ectropion/entropion/eyelid eversion
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • pruritus/itching
  • corneal ulceration/perforation
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • hearing loss/hypoacusia/deafness
  • palmoplantar hyperkeratosis/keratoderma
  • alopecia
  • nails anomalies
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • short stature/dwarfism/nanism

HPO human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 2:

(show all 29)
id Description Frequency HPO Source Accession
1 hypohidrosis hallmark (90%) HP:0000966
2 limitation of joint mobility hallmark (90%) HP:0001376
3 ichthyosis hallmark (90%) HP:0008064
4 abnormality of the eyelid hallmark (90%) HP:0000492
5 hypohidrosis hallmark (90%) HP:0000966
6 pruritus hallmark (90%) HP:0000989
7 ichthyosis hallmark (90%) HP:0008064
8 hearing impairment typical (50%) HP:0000365
9 palmoplantar keratoderma typical (50%) HP:0000982
10 alopecia typical (50%) HP:0001596
11 abnormality of the nail typical (50%) HP:0001597
12 inflammatory abnormality of the eye typical (50%) HP:0100533
13 corneal erosion typical (50%) HP:0200020
14 short stature occasional (7.5%) HP:0004322
15 everted lower lip vermilion rare (5%) HP:0000232
16 ectropion rare (5%) HP:0000656
17 small nail rare (5%) HP:0001792
18 thin nail rare (5%) HP:0001816
19 short toe rare (5%) HP:0001831
20 short finger rare (5%) HP:0009381
21 autosomal recessive inheritance HP:0000007
22 palmoplantar keratoderma HP:0000982
23 intellectual disability HP:0001249
24 growth delay HP:0001510
25 abnormality of the hair HP:0001595
26 external genital hypoplasia HP:0003241
27 paralysis HP:0003470
28 congenital ichthyosiform erythroderma HP:0007431
29 congenital nonbullous ichthyosiform erythroderma HP:0007479

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 2

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Drug clinical trials:

Search ClinicalTrials for Ichthyosis, Congenital, Autosomal Recessive 2

Search NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 2

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 2

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Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 2

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MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 2:

32
Skin

Animal Models for Ichthyosis, Congenital, Autosomal Recessive 2 or affiliated genes

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MGI Mouse Phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.4ALOXE3, CERS3, TGM1, ABCA12
2MP:00107718.0ALOX12B, ALOXE3, CERS3, TGM1, ABCA12
3MP:00053767.9ABCA12, TGM1, CERS3, ALOXE3, ALOX12B
4MP:00107687.7ABCA12, TGM1, CERS3, ALOXE3, ALOX12B

Publications for Ichthyosis, Congenital, Autosomal Recessive 2

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Variations for Ichthyosis, Congenital, Autosomal Recessive 2

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UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 2:

64 (show all 18)
id Symbol AA change Variation ID SNP ID
1ALOX12Bp.Leu426ProVAR_015173
2ALOX12Bp.His578GlnVAR_015174
3ALOX12Bp.Leu24ProVAR_069545
4ALOX12Bp.Ile67PheVAR_069546
5ALOX12Bp.Arg114TrpVAR_069547
6ALOX12Bp.Pro127SerVAR_069548
7ALOX12Bp.Phe195LeuVAR_069549
8ALOX12Bp.Tyr318CysVAR_069550
9ALOX12Bp.Lys382GluVAR_069551
10ALOX12Bp.Thr383MetVAR_069552
11ALOX12Bp.Asn416LysVAR_069553
12ALOX12Bp.Gly462AspVAR_069554
13ALOX12Bp.Arg488HisVAR_069555
14ALOX12Bp.Tyr521CysVAR_069556
15ALOX12Bp.Val527MetVAR_069557
16ALOX12Bp.Ala597GluVAR_069558
17ALOX12Bp.Ala664ProVAR_069559
18ALOX12Bp.Arg679LeuVAR_069560

Clinvar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 2:

6 (show all 67)
id Gene Name 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
28ALOXE3NM_001165960.1(ALOXE3): c.1894G> T (p.Val632Phe)single nucleotide variantPathogenicrs121434232GRCh37Chr 17, 8012556: 8012556
29ALOXE3NM_001165960.1(ALOXE3): c.1096C> T (p.Arg366Ter)single nucleotide variantPathogenicrs121434233GRCh37Chr 17, 8015495: 8015495
30ALOXE3NM_001165960.1(ALOXE3): c.1582C> A (p.Arg528Ser)single nucleotide variantPathogenicrs121434234GRCh37Chr 17, 8013529: 8013529
31TGM1NM_000359.2(TGM1): c.1303_1307delTTCCA (p.Phe435Cysfs)deletionPathogenicrs398122900GRCh37Chr 14, 24727586: 24727590
32TGM1NM_000359.2(TGM1): c.1744C> T (p.Gln582Ter)single nucleotide variantPathogenicrs397514522GRCh37Chr 14, 24724361: 24724361
33TGM1TGM1, -86C-Tsingle nucleotide variantPathogenic
34TGM1NM_000359.2(TGM1): c.305A> T (p.Asp102Val)single nucleotide variantPathogenicrs398122901GRCh37Chr 14, 24731254: 24731254
35TGM1TGM1, LEU204GLNundetermined variantPathogenic
36TGM1NM_000359.2(TGM1): c.826T> A (p.Tyr276Asn)single nucleotide variantPathogenicrs397514523GRCh37Chr 14, 24729196: 24729196
37TGM1NM_000359.2(TGM1): c.376C> T (p.Arg126Cys)single nucleotide variantPathogenicrs397514524GRCh37Chr 14, 24731033: 24731033
38TGM1NM_000359.2(TGM1): c.943C> T (p.Arg315Cys)single nucleotide variantPathogenicrs397514525GRCh37Chr 14, 24728951: 24728951
39TGM1NM_000359.2(TGM1): c.944G> A (p.Arg315His)single nucleotide variantPathogenicrs143473912GRCh37Chr 14, 24728950: 24728950
40TGM1NM_000359.2(TGM1): c.944G> T (p.Arg315Leu)single nucleotide variantPathogenicrs143473912GRCh37Chr 14, 24728950: 24728950
41TGM1NM_000359.2(TGM1): c.1075G> A (p.Val359Met)single nucleotide variantPathogenicrs202037016GRCh37Chr 14, 24728365: 24728365
42TGM1NM_000359.2(TGM1): c.1187G> A (p.Arg396His)single nucleotide variantPathogenicrs121918721GRCh37Chr 14, 24727852: 24727852
43TGM1NM_000359.2: c.1923_1927+2delGGCCTGTdeletionPathogenicrs398122902GRCh37Chr 14, 24724176: 24724182
44TGM1NM_000359.2(TGM1): c.1331dupA (p.Arg445Glufs)duplicationPathogenicrs398122903GRCh37Chr 14, 24727562: 24727562
45TGM1NM_000359.2(TGM1): c.2278C> T (p.Arg760Ter)single nucleotide variantPathogenicrs398122904GRCh37Chr 14, 24718695: 24718695
46TGM1NM_000359.2(TGM1): c.1223_1227delACACA (p.Asp408Valfs)deletionPathogenicrs398122905GRCh37Chr 14, 24727812: 24727816
47ALOX12BNM_001139.2(ALOX12B): c.340C> T (p.Arg114Trp)single nucleotide variantPathogenicrs397514526GRCh37Chr 17, 7989346: 7989346
48ALOX12BNM_001139.2(ALOX12B): c.1294C> T (p.Arg432Ter)single nucleotide variantPathogenicrs397514527GRCh37Chr 17, 7980043: 7980043
49ALOX12BNM_001139.2(ALOX12B): c.2036G> T (p.Arg679Leu)single nucleotide variantPathogenicrs397514528GRCh37Chr 17, 7976159: 7976159
50ALOX12BNM_001139.2(ALOX12B): c.1180G> A (p.Glu394Lys)single nucleotide variantPathogenicrs397514529GRCh37Chr 17, 7980403: 7980403
51ALOX12BNM_001139.2(ALOX12B): c.410T> A (p.Ile137Asn)single nucleotide variantPathogenicrs397514530GRCh37Chr 17, 7984448: 7984448
52ALOX12BNM_001139.2(ALOX12B): c.1207C> T (p.His403Tyr)single nucleotide variantPathogenicrs397514531GRCh37Chr 17, 7980376: 7980376
53ALOX12BALOX12B, IVS2, G-A, -1single nucleotide variantPathogenic
54ALOX12BNM_001139.2(ALOX12B): c.1642C> T (p.Arg548Trp)single nucleotide variantPathogenicrs397514532GRCh37Chr 17, 7978925: 7978925
55ALOX12BNM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys)single nucleotide variantPathogenicrs199766569GRCh37Chr 17, 7979005: 7979005
56ALOX12BNM_001139.2(ALOX12B): c.199A> T (p.Ile67Phe)single nucleotide variantPathogenicrs397514533GRCh37Chr 17, 7989487: 7989487
57ALOXE3ALOXE3, GLY281VALundetermined variantPathogenic
58ALOXE3ALOXE3, PRO630LEUsingle nucleotide variantPathogenic
59ALOXE3ALOXE3, ARG145HISsingle nucleotide variantPathogenic
60ALOXE3ALOXE3, LEU427PROsingle nucleotide variantPathogenic
61PNPLA1PNPLA1, GLU131TERsingle nucleotide variantPathogenic
62PNPLA1PNPLA1, ALA59VALsingle nucleotide variantPathogenic
63CERS3NM_178842.3(CERS3): c.609+1G> Tsingle nucleotide variantPathogenicGRCh37Chr 15, 101016290: 101016290
64ALOX12BNM_001139.2(ALOX12B): c.1387delT (p.Phe463Leufs)deletionPathogenicrs387906349GRCh37Chr 17, 7979638: 7979638
65ALOX12BNM_001139.2(ALOX12B): c.1277T> C (p.Leu426Pro)single nucleotide variantPathogenicrs137853023GRCh37Chr 17, 7980060: 7980060
66ALOX12BNM_001139.2(ALOX12B): c.1734C> A (p.His578Gln)single nucleotide variantPathogenicrs137853024GRCh37Chr 17, 7976996: 7976996
67CERS3CERS3, TRP15ARGsingle nucleotide variantPathogenic

Expression for genes affiliated with Ichthyosis, Congenital, Autosomal Recessive 2

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Expression patterns in normal tissues for genes affiliated with Ichthyosis, Congenital, Autosomal Recessive 2

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Pathways for genes affiliated with Ichthyosis, Congenital, Autosomal Recessive 2

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Pathways related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6ALOX12B, ALOXE3

Compounds for genes affiliated with Ichthyosis, Congenital, Autosomal Recessive 2

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Sources:
44Novoseek, 24HMDB
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Compounds related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
112(r)-hpete44 2410.3ALOX12B, ALOXE3
2lipid448.9ALOXE3, TGM1, ABCA12

GO Terms for genes affiliated with Ichthyosis, Congenital, Autosomal Recessive 2

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Biological processes related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1hepoxilin biosynthetic processGO:0511229.8ALOXE3, ALOX12B
2lipoxygenase pathwayGO:0193729.7ALOX12B, ALOXE3
3linoleic acid metabolic processGO:0436519.6ALOX12B, ALOXE3
4arachidonic acid metabolic processGO:0193699.3ALOX12B, ALOXE3
5keratinocyte differentiationGO:0302169.3CERS3, TGM1
6establishment of skin barrierGO:0614369.3ALOX12B, ALOXE3, ABCA12
7ceramide biosynthetic processGO:0465139.3CERS3, ALOXE3, ALOX12B
8sphingolipid metabolic processGO:0066659.3ALOX12B, ALOXE3, CERS3
9keratinizationGO:0314249.2ABCA12, TGM1

Molecular functions related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:0055069.6ALOX12B, ALOXE3
2oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygenGO:0167029.3ALOX12B, ALOXE3

Products for genes affiliated with Ichthyosis, Congenital, Autosomal Recessive 2

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Sources for Ichthyosis, Congenital, Autosomal Recessive 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet