MCID: ICH049
MIFTS: 41

Ichthyosis, Congenital, Autosomal Recessive 2 malady

Genetic diseases, Skin diseases, Rare diseases categories

Summaries for Ichthyosis, Congenital, Autosomal Recessive 2

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OMIM:47 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 shcb, is related to acral self-healing collodion baby and bathing suit ichthyosis, 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. The compounds iron and 12(r)-hpete have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are mortality/aging and integument.

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 2

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Sources:
47OMIM, 11diseasecard, 24GTR, 49Orphanet, 62UMLS, 28ICD10 via Orphanet
See all sources

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

Name: Ichthyosis, Congenital, Autosomal Recessive 2 47 11 24
Shcb 49 62
 
Self-Healing Collodion Baby 49


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 49 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

49
shcb:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM47 242100
Orphanet49 281122
ICD10 via Orphanet28 Q80.2

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 2

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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:

 49
  • 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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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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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:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.5ALOX12B, ALOXE3, TGM1
2MP:00107718.4ALOX12B, ALOXE3, TGM1
3MP:00053768.2ALOX12B, 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:

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:

7 (show all 59)
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
24ALOXE3NM_001165960.1(ALOXE3): c.1894G> T (p.Val632Phe)single nucleotide variantPathogenicrs121434232GRCh37Chr 17, 8012556: 8012556
25ALOXE3NM_001165960.1(ALOXE3): c.1096C> T (p.Arg366Ter)single nucleotide variantPathogenicrs121434233GRCh37Chr 17, 8015495: 8015495
26ALOXE3NM_001165960.1(ALOXE3): c.1582C> A (p.Arg528Ser)single nucleotide variantPathogenicrs121434234GRCh37Chr 17, 8013529: 8013529
27TGM1NM_000359.2(TGM1): c.1303_1307delTTCCA (p.Phe435Cysfs)deletionPathogenicrs398122900GRCh37Chr 14, 24727586: 24727590
28TGM1NM_000359.2(TGM1): c.1744C> T (p.Gln582Ter)single nucleotide variantPathogenicrs397514522GRCh37Chr 14, 24724361: 24724361
29TGM1TGM1, -86C-Tsingle nucleotide variantPathogenic
30TGM1NM_000359.2(TGM1): c.305A> T (p.Asp102Val)single nucleotide variantPathogenicrs398122901GRCh37Chr 14, 24731254: 24731254
31TGM1TGM1, LEU204GLNundetermined variantPathogenic
32TGM1NM_000359.2(TGM1): c.826T> A (p.Tyr276Asn)single nucleotide variantPathogenicrs397514523GRCh37Chr 14, 24729196: 24729196
33TGM1NM_000359.2(TGM1): c.376C> T (p.Arg126Cys)single nucleotide variantPathogenicrs397514524GRCh37Chr 14, 24731033: 24731033
34TGM1NM_000359.2(TGM1): c.943C> T (p.Arg315Cys)single nucleotide variantPathogenicrs397514525GRCh37Chr 14, 24728951: 24728951
35TGM1NM_000359.2(TGM1): c.944G> A (p.Arg315His)single nucleotide variantPathogenicrs143473912GRCh37Chr 14, 24728950: 24728950
36TGM1NM_000359.2(TGM1): c.944G> T (p.Arg315Leu)single nucleotide variantPathogenicrs143473912GRCh37Chr 14, 24728950: 24728950
37TGM1NM_000359.2(TGM1): c.1075G> A (p.Val359Met)single nucleotide variantPathogenicrs202037016GRCh37Chr 14, 24728365: 24728365
38TGM1NM_000359.2(TGM1): c.1187G> A (p.Arg396His)single nucleotide variantPathogenicrs121918721GRCh37Chr 14, 24727852: 24727852
39TGM1NM_000359.2: c.1923_1927+2delGGCCTGTdeletionPathogenicrs398122902GRCh37Chr 14, 24724176: 24724182
40TGM1NM_000359.2(TGM1): c.1331dupA (p.Arg445Glufs)duplicationPathogenicrs398122903GRCh37Chr 14, 24727562: 24727562
41TGM1NM_000359.2(TGM1): c.2278C> T (p.Arg760Ter)single nucleotide variantPathogenicrs398122904GRCh37Chr 14, 24718695: 24718695
42TGM1NM_000359.2(TGM1): c.1223_1227delACACA (p.Asp408Valfs)deletionPathogenicrs398122905GRCh37Chr 14, 24727812: 24727816
43ALOX12BNM_001139.2(ALOX12B): c.340C> T (p.Arg114Trp)single nucleotide variantPathogenicrs397514526GRCh37Chr 17, 7989346: 7989346
44ALOX12BNM_001139.2(ALOX12B): c.1294C> T (p.Arg432Ter)single nucleotide variantPathogenicrs397514527GRCh37Chr 17, 7980043: 7980043
45ALOX12BNM_001139.2(ALOX12B): c.2036G> T (p.Arg679Leu)single nucleotide variantPathogenicrs397514528GRCh37Chr 17, 7976159: 7976159
46ALOX12BNM_001139.2(ALOX12B): c.1180G> A (p.Glu394Lys)single nucleotide variantPathogenicrs397514529GRCh37Chr 17, 7980403: 7980403
47ALOX12BNM_001139.2(ALOX12B): c.410T> A (p.Ile137Asn)single nucleotide variantPathogenicrs397514530GRCh37Chr 17, 7984448: 7984448
48ALOX12BNM_001139.2(ALOX12B): c.1207C> T (p.His403Tyr)single nucleotide variantPathogenicrs397514531GRCh37Chr 17, 7980376: 7980376
49ALOX12BALOX12B, IVS2, G-A, -1single nucleotide variantPathogenic
50ALOX12BNM_001139.2(ALOX12B): c.1642C> T (p.Arg548Trp)single nucleotide variantPathogenicrs397514532GRCh37Chr 17, 7978925: 7978925
51ALOX12BNM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys)single nucleotide variantPathogenicrs199766569GRCh37Chr 17, 7979005: 7979005
52ALOX12BNM_001139.2(ALOX12B): c.199A> T (p.Ile67Phe)single nucleotide variantPathogenicrs397514533GRCh37Chr 17, 7989487: 7989487
53ALOXE3ALOXE3, GLY281VALundetermined variantPathogenic
54ALOXE3ALOXE3, PRO630LEUsingle nucleotide variantPathogenic
55ALOXE3ALOXE3, ARG145HISsingle nucleotide variantPathogenic
56ALOXE3ALOXE3, LEU427PROsingle nucleotide variantPathogenic
57ALOX12BNM_001139.2(ALOX12B): c.1387delT (p.Phe463Leufs)deletionPathogenicrs387906349GRCh37Chr 17, 7979638: 7979638
58ALOX12BNM_001139.2(ALOX12B): c.1277T> C (p.Leu426Pro)single nucleotide variantPathogenicrs137853023GRCh37Chr 17, 7980060: 7980060
59ALOX12BNM_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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0ALOX12B, ALOXE3

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

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Sources:
45Novoseek, 26HMDB, 30IUPHAR, 13DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1iron45 2610.0ALOX12B, ALOXE3
212(r)-hpete45 269.9ALOX12B, ALOXE3
3arachidonic acid45 30 26 1311.7ALOX12B, 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/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1hepoxilin biosynthetic processGO:00511229.2ALOXE3, ALOX12B
2establishment of skin barrierGO:00614369.1ALOXE3, ALOX12B
3linoleic acid metabolic processGO:00436519.1ALOXE3, ALOX12B
4lipoxygenase pathwayGO:00193729.0ALOXE3, ALOX12B
5sphingolipid metabolic processGO:00066659.0ALOXE3, ALOX12B
6ceramide biosynthetic processGO:00465138.9ALOX12B, ALOXE3
7arachidonic acid metabolic processGO:00193698.7ALOXE3, ALOX12B

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

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:00055069.0ALOX12B, ALOXE3
2oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygenGO:00167028.7ALOX12B, 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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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet