MCID: ICH049
MIFTS: 38

Ichthyosis, Congenital, Autosomal Recessive 2 malady

Genetic diseases, Skin diseases, Rare diseases categories

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 2

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Sources:
49OMIM, 11diseasecard, 24GTR, 67UniProtKB/Swiss-Prot, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

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

Name: Ichthyosis, Congenital, Autosomal Recessive 2 49 11 24 67
Self-Healing Collodion Baby 51 67
Ichthyosiform Erythroderma Brocq Congenital Non-Bullous Form 67
Non-Bullous Congenital Ichthyosiform Erythroderma Type 1 67
Ichthyosiform Erythroderma, Congenital 67
Ichthyosis Congenita Ii 65
 
Iecn1 67
Ncie1 67
Arci2 67
Shcb 51
Cie 67


Classifications:

Orphanet: 51 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

51
self-healing collodion baby:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 242100
Orphanet51 281122
ICD10 via Orphanet28 Q80.2
MedGen34 C1855792
MeSH36 D017490

Summaries for Ichthyosis, Congenital, Autosomal Recessive 2

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OMIM:49 Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized... (242100) more...

MalaCards based summary: Ichthyosis, Congenital, Autosomal Recessive 2, also known as self-healing collodion baby, is related to ichthyosis, congenital, autosomal recessive 3 and acral self-healing collodion baby, and has symptoms including hypohidrosis, limitation of joint mobility and ichthyosis. 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. Affiliated tissues include skin, and related mouse phenotype integument.

UniProtKB/Swiss-Prot:67 Ichthyosis, congenital, autosomal recessive 2: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 2

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Diseases in the Ichthyosis family:

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 2
Ichthyosis, Congenital, Autosomal Recessive 3 Ichthyosis, Congenital, Autosomal Recessive 5
Autosomal Recessive Congenital Ichthyosis Ichthyosis, Acquired
Abca12-Related Autosomal Recessive Congenital Ichthyosis Alox12b-Related Autosomal Recessive Congenital Ichthyosis
Aloxe3-Related Autosomal Recessive Congenital Ichthyosis Cyp4f22-Related Autosomal Recessive Congenital Ichthyosis
Pnpla1-Related Autosomal Recessive Congenital Ichthyosis Tgm1-Related Autosomal Recessive Congenital Ichthyosis

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

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis, congenital, autosomal recessive 330.0ALOX12B, ALOXE3, TGM1
2acral self-healing collodion baby10.7
3ichthyosis, congenital, autosomal recessive 110.4
4ichthyosis10.4
5bathing suit ichthyosis10.4
6congenital ichthyosiform erythroderma10.3
7epidermolytic hyperkeratosis10.3
8ichthyosis with confetti10.3
9autosomal recessive congenital ichthyosis10.3
10cholera10.1
11bubonic plague10.1
12plague10.1
13ichthyosis lamellar 29.6ALOX12B, ALOXE3, TGM1
14asthenopia9.6ALOX12B, ALOXE3, TGM1
15brca1 and brca2 hereditary breast and ovarian cancer9.5ALOX12B, ALOXE3, TGM1
16ichthyosis alopecia eclabion ectropion mental retardation9.4ALOX12B, ALOXE3, TGM1

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

Symptoms:

 51
  • ichthyosis/ichthyosiform dermatitis
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal recessive inheritance

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

(show all 18)
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 everted lower lip vermilion rare (5%) HP:0000232
5 ectropion rare (5%) HP:0000656
6 small nail rare (5%) HP:0001792
7 thin nail rare (5%) HP:0001816
8 short toe rare (5%) HP:0001831
9 short finger rare (5%) HP:0009381
10 autosomal recessive inheritance HP:0000007
11 palmoplantar keratoderma HP:0000982
12 intellectual disability HP:0001249
13 growth delay HP:0001510
14 abnormality of the hair HP:0001595
15 external genital hypoplasia HP:0003241
16 paralysis HP:0003470
17 congenital ichthyosiform erythroderma HP:0007431
18 congenital nonbullous ichthyosiform erythroderma HP:0007479

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 2

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Drugs for Ichthyosis, Congenital, Autosomal Recessive 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1EmollientsPhase 3113

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine CutaneousNot yet recruitingNCT01222000Phase 3

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

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 2

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Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 2:

id Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 224

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 2

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

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5ALOX12B, ALOXE3, TGM1

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:

67 (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:

5 (show all 63)
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
24ALOX12BNM_001139.2(ALOX12B): c.1579G> A (p.Val527Met)single nucleotide variantLikely pathogenicrs199545653GRCh37Chr 17, 7978988: 7978988
25NC_000017.11: g.8017293_8022591del5299deletionPathogenicGRCh38Chr 17, 8017293: 8022591
26ALOXE3NM_021628.2(ALOXE3): c.418C> T (p.Arg140Ter)single nucleotide variantPathogenicrs370031870GRCh38Chr 17, 8115623: 8115623
27TGM1NM_000359.2(TGM1): c.1363T> C (p.Trp455Arg)single nucleotide variantPathogenicGRCh38Chr 14, 24258324: 24258324
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(TGM1): c.1923_1927+2deldeletionPathogenicrs398122902GRCh37Chr 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
57ALOXE3NM_001165960.1(ALOXE3): c.1238G> T (p.Gly413Val)single nucleotide variantPathogenicrs786205120GRCh38Chr 17, 8111474: 8111474
58ALOXE3ALOXE3, PRO630LEUsingle nucleotide variantPathogenic
59ALOXE3ALOXE3, ARG145HISsingle nucleotide variantPathogenic
60ALOXE3ALOXE3, LEU427PROsingle nucleotide variantPathogenic
61ALOX12BNM_001139.2(ALOX12B): c.1387delT (p.Phe463Leufs)deletionPathogenicrs387906349GRCh37Chr 17, 7979638: 7979638
62ALOX12BNM_001139.2(ALOX12B): c.1277T> C (p.Leu426Pro)single nucleotide variantPathogenicrs137853023GRCh37Chr 17, 7980060: 7980060
63ALOX12BNM_001139.2(ALOX12B): c.1734C> A (p.His578Gln)single nucleotide variantPathogenicrs137853024GRCh37Chr 17, 7976996: 7976996

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

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Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 2.

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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3ALOX12B, ALOXE3

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 Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1hepoxilin biosynthetic processGO:00511229.9ALOX12B, ALOXE3
2establishment of skin barrierGO:00614369.7ALOX12B, ALOXE3
3lipoxygenase pathwayGO:00193729.7ALOX12B, ALOXE3
4ceramide biosynthetic processGO:00465139.5ALOX12B, ALOXE3
5sphingolipid metabolic processGO:00066659.4ALOX12B, ALOXE3
6linoleic acid metabolic processGO:00436519.3ALOX12B, ALOXE3
7arachidonic acid metabolic processGO:00193699.0ALOX12B, ALOXE3

Molecular functions related to Ichthyosis, Congenital, Autosomal Recessive 2 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:00167029.9ALOX12B, ALOXE3
2iron ion bindingGO:00055069.7ALOX12B, ALOXE3
3metal ion bindingGO:00468728.5ALOX12B, ALOXE3, TGM1

Sources for Ichthyosis, Congenital, Autosomal Recessive 2

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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