MCID: ATS013
MIFTS: 42

Autosomal Recessive Congenital Ichthyosis malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Congenital Ichthyosis

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Sources:
21GeneReviews, 22GeneTests, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Autosomal Recessive Congenital Ichthyosis:

Name: Autosomal Recessive Congenital Ichthyosis 21 22
Non-Bullous Congenital Ichthyosiform Erythroderma 22 51
Congenital Lamellar Ichthyosis, Autosomal Recessive 22
Congenital Non-Bullous Ichthyosiform Erythroderma 51
Autosomal Recessive Lamellar Ichthyosis 22
 
Ichthyosiform Erythroderma, Congenital 65
Congenital Ichthyosiform Erythroderma 22
Erythrodermic Ichthyosis 51
Collodion Baby 22
Cie 51

Characteristics:

Orphanet epidemiological data:

51
non-bullous congenital ichthyosiform erythroderma:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood

Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

Orphanet51 79394
ICD10 via Orphanet28 Q80.2
UMLS via Orphanet66 C0079154

Summaries for Autosomal Recessive Congenital Ichthyosis

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MalaCards based summary: Autosomal Recessive Congenital Ichthyosis, also known as non-bullous congenital ichthyosiform erythroderma, is related to ichthyosis, congenital, autosomal recessive 3 and ichthyosis, autosomal recessive 4b, and has symptoms including abnormality of the eyelid, hypohidrosis and pruritus. An important gene associated with Autosomal Recessive Congenital Ichthyosis is TGM1 (Transglutaminase 1), and among its related pathways are Prostaglandin 2 biosynthesis and metabolism FM and Arachidonic acid metabolism. Affiliated tissues include skin, eye and temporal lobe, and related mouse phenotype integument.

GeneReviews summary for NBK1420

Related Diseases for Autosomal Recessive Congenital Ichthyosis

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Diseases in the Ichthyosis, Acquired 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 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 Autosomal Recessive Congenital Ichthyosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis, congenital, autosomal recessive 331.4ALOX12B, ALOXE3, TGM1
2ichthyosis, autosomal recessive 4b31.2ABCA12, TGM1
3acral self-healing collodion baby12.6
4abca12-related autosomal recessive congenital ichthyosis12.4
5alox12b-related autosomal recessive congenital ichthyosis12.4
6aloxe3-related autosomal recessive congenital ichthyosis12.4
7cyp4f22-related autosomal recessive congenital ichthyosis12.4
8pnpla1-related autosomal recessive congenital ichthyosis12.4
9tgm1-related autosomal recessive congenital ichthyosis12.4
10ichthyosis, congenital, autosomal recessive 111.9
11congenital ichthyosiform erythroderma11.8
12ichthyosis, congenital, autosomal recessive 611.8
13ichthyosis, congenital, autosomal recessive 4a10.7
14ichthyosis, congenital, autosomal recessive 1010.7
15ichthyosis, congenital, autosomal recessive 810.7
16ichthyosis, congenital, autosomal recessive 1110.7
17ichthyosis, congenital, autosomal recessive 910.7
18ichthyosis, congenital, autosomal recessive 210.7
19ichthyosis, congenital, autosomal recessive 510.7
20ichthyosis, congenital, autosomal recessive 710.6
21leukemia10.5
22myocarditis10.4
23netherton syndrome10.4
24ichthyosis prematurity syndrome10.4
25diabetic polyneuropathy10.3ABCA12, TGM1
26tendinopathy10.3
27spastic ectropion10.2ABCA12, TGM1
28ichthyosis, cyclic, with epidermolytic hyperkeratosis10.2ABCA12, TGM1
29colorectal cancer10.2
30pyruvate kinase deficiency10.2
31parathyroid carcinoma10.2
32bacteremia10.2
33renal cell carcinoma10.2
34alcohol dependence10.2
35celiac disease10.2
36chronic lymphocytic leukemia10.2
37spinal muscular atrophy10.2
38aphasia10.2
39lymphoma10.2
40colitis10.2
41tonsillitis10.2
42hypertrophic pyloric stenosis10.2
43pyloric stenosis10.2
44enterocele10.2
45dementia10.2
46hellp syndrome10.2
47angioedema10.2
48lymphadenitis10.2
49ovarian cancer10.2
50dermatitis10.2

Graphical network of the top 20 diseases related to Autosomal Recessive Congenital Ichthyosis:



Diseases related to autosomal recessive congenital ichthyosis

Symptoms for Autosomal Recessive Congenital Ichthyosis

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Symptoms:

 51 (show all 14)
  • ectropion/entropion/eyelid eversion
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • ichthyosis/ichthyosiform dermatitis
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • pruritus/itching
  • autosomal recessive inheritance
  • 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 Autosomal Recessive Congenital Ichthyosis:

(show all 11)
id Description Frequency HPO Source Accession
1 abnormality of the eyelid hallmark (90%) HP:0000492
2 hypohidrosis hallmark (90%) HP:0000966
3 pruritus hallmark (90%) HP:0000989
4 ichthyosis hallmark (90%) HP:0008064
5 hearing impairment typical (50%) HP:0000365
6 palmoplantar keratoderma typical (50%) HP:0000982
7 alopecia typical (50%) HP:0001596
8 abnormality of the nail typical (50%) HP:0001597
9 inflammatory abnormality of the eye typical (50%) HP:0100533
10 corneal erosion typical (50%) HP:0200020
11 short stature occasional (7.5%) HP:0004322

Drugs & Therapeutics for Autosomal Recessive Congenital Ichthyosis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1EmollientsPhase 3121
2Dermatologic AgentsPhase 34555

Interventional clinical trials:

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

Search NIH Clinical Center for Autosomal Recessive Congenital Ichthyosis

Genetic Tests for Autosomal Recessive Congenital Ichthyosis

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Genetic tests related to Autosomal Recessive Congenital Ichthyosis:

id Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis22 TGM1

Anatomical Context for Autosomal Recessive Congenital Ichthyosis

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MalaCards organs/tissues related to Autosomal Recessive Congenital Ichthyosis:

33
Skin, Eye, Temporal lobe, Cardiac myocytes, T cells, Tonsil, Prostate

Animal Models for Autosomal Recessive Congenital Ichthyosis or affiliated genes

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MGI Mouse Phenotypes related to Autosomal Recessive Congenital Ichthyosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3ABCA12, ALOX12B, ALOXE3, CERS3, SLC27A4, SPINK5

Publications for Autosomal Recessive Congenital Ichthyosis

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Articles related to Autosomal Recessive Congenital Ichthyosis:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
To the Editor: a89Re: Controversy: Acute Cauda Equina Syndrome Caused by a Disk Lesion: Is Emergent Surgery the Correct Option?a89 by Mahadevappa et al; a89Surgical Decompression Remains the Standard of Care,a89 by McLain et al. (26731711)
2015
2
Juvenile Nasopharyngeal Angiofibroma Extending into the Oral Cavity: A Rare Entity. (26266232)
2015
3
Ictal and postictal semiology in patients with bilateral temporal lobe epilepsy. (25282104)
2014
4
Hyperandrogenemia predicts metabolic phenotype in polycystic ovary syndrome: the utility of serum androstenedione. (24423344)
2014
5
Upregulation of chemokine receptor CCR10 is essential for glioma proliferation, invasion and patient survival. (25149529)
2014
6
Assessment of the Efficacy and Safety of a Combination of 2 Topical Retinoids (RetinSphere) in Maintaining Post-Treatment Response of Acne to Oral Isotretinoin. (25306870)
2014
7
Epigenetic alterations and an increased frequency of micronuclei in women with fibromyalgia. (24058735)
2013
8
Insights into Notch3 activation and inhibition mediated by antibodies directed against its negative regulatory region. (23747483)
2013
9
The effect of hydrogen gas on a mouse bilateral common carotid artery occlusion. (23564105)
2013
10
Passive stiffness of the gastrocnemius muscle in athletes with spastic hemiplegic cerebral palsy. (23689294)
2013
11
Colchicine use is associated with decreased prevalence of myocardial infarction in patients with gout. (22660810)
2012
12
Ancient voyaging and Polynesian origins. (21295281)
2011
13
TLR2 and TLR4 gene polymorphisms and atopic dermatitis in Italian children: a multicenter study. (22032785)
2011
14
Primary peripheral T-cell lymphoma of the colon mimics inflammatory bowel disease: a potential pitfall with F-18 FDG PET/CT imaging. (21637044)
2011
15
A clinico-pathologic correlation. Odontogenic myxoma. (20806706)
2010
16
Rituximab-associated acute thrombocytopenia: an under-diagnosed phenomenon. (19260124)
2009
17
Vasoactive intestinal peptide behaves as a pro-metastatic factor in human prostate cancer cells. (19189304)
2009
18
Heme oxygenase-1 overexpression in patients with malignant obstructive jaundice]. (20223113)
2009
19
Pathological satiety caused by brainstem hemangioblastoma. (19035684)
2008
20
Anisomycin protects cortical neurons from prolonged hypoxia with differential regulation of p38 and ERK. (17391655)
2007
21
AID associates with single-stranded DNA with high affinity and a long complex half-life in a sequence-independent manner. (17060445)
2007
22
Dynamic behavior of fully solvated beta2-adrenergic receptor, embedded in the membrane with bound agonist or antagonist. (16551744)
2006
23
GABAergic input onto CA3 hippocampal interneurons remains shunting throughout development. (17093093)
2006
24
Patient safety tools: SARS, smallpox, monkeypox, and avian flu. (15986029)
2005
25
Effect of simvastatin on cardiac fibrosis in patients with essential hypertension]. (16045013)
2005
26
IFN-beta down-regulates the expression of DNA repair gene MGMT and sensitizes resistant glioma cells to temozolomide. (16140920)
2005
27
DCC association with lipid rafts is required for netrin-1-mediated axon guidance. (15811950)
2005
28
15-deoxy-delta 12,14-prostaglandin J2 induces heme oxygenase-1 gene expression in a reactive oxygen species-dependent manner in human lymphocytes. (15024026)
2004
29
Interleukin 11 treatment alters the protein content of Galpha(i2) and adipogenic transcription factors in 3T3-L1 adipocytes. (15207245)
2004
30
Werner syndrome protein phosphorylation by abl tyrosine kinase regulates its activity and distribution. (12944467)
2003
31
Endogenous levels of mRNA for IFNs and IFN-related genes in hepatic biopsies of chronic HCV-infected and non-alcoholic steatohepatitis patients. (12794720)
2003
32
Microanatomical localization of PD-1 in human tonsils. (12095712)
2002
33
Gastrointestinal transit in nonobese diabetic mouse: an animal model of human diabetes type 1. (11561557)
2001
34
Primary seminal vesicle carcinoma: an immunohistochemical analysis of four cases. (10658909)
2000
35
Mapping of a target region of allelic loss to a 0.5-cM interval on chromosome 22q13 in human colorectal cancer. (10500065)
1999
36
Significance of axillary lymph node metastasis in primary breast cancer. (10561295)
1999
37
A moderate glycemic meal before endurance exercise can enhance performance. (9451617)
1998
38
GB virus-C RNA in Japanese patients with hepatocellular carcinoma and cirrhosis. (9314122)
1997
39
Long-term haemodynamic and antiarrhythmic benefits of DDIR versus DDI pacing mode in sick sinus syndrome and chronotropic incompetence. (9378194)
1997
40
Effect of suramin on squamous differentiation and apoptosis in three human non-small-cell lung cancer cell lines. (8806101)
1996
41
Correction of ornithine transcarbamylase deficiency in adult spf(ash) mice and in OTC-deficient human hepatocytes with recombinant adenoviruses bearing the CAG promoter. (8860834)
1996
42
Gastrointestinal bleeding and paraparesis in blue rubber bleb nevus syndrome. (7724289)
1994
43
Case report: squamous cell carcinoma of the skin in both palms, axillary node, donor skin graft site and both soles--associated hyperkeratosis and porokeratosis. (8193903)
1994
44
Tumor necrosis factor and soluble interleukin-2 receptor: two immunological biomarkers in female neoplasms. (1511722)
1992
45
Regional localization of the intestinal mucin gene MUC3 to chromosome 7q22. (1362870)
1992
46
Human hepatocyte growth factor stimulates the growth of HUH-6 clone 5 human hepatoblastoma cells. (1312905)
1992
47
Regulation of oxytocin secretion by the ovine corpus luteum: effect of activators of protein kinase C. (2155985)
1990
48
Observations on long-term follow-up of posterior scleritis. (3777098)
1986
49
Yaws on Guam; treatment and environmental considerations. (13007925)
1953
50
Inhibition of a cervical thyroid gland by a functioning struma ovarii. (14841250)
1951

Variations for Autosomal Recessive Congenital Ichthyosis

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Expression for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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

Pathways for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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Pathways related to Autosomal Recessive Congenital Ichthyosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
110.0ALOX12B, ALOXE3
2
Show member pathways
9.3ALOX12B, ALOX15B, CYP4F22
38.8NIPA1, NIPA2, NIPAL2, NIPAL4
4
Show member pathways
8.2ABCA12, NIPA1, NIPA2, NIPAL2, NIPAL4, SLC27A4

GO Terms for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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Biological processes related to Autosomal Recessive Congenital Ichthyosis according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1linoleic acid metabolic processGO:004365110.4ALOX12B, ALOXE3
2hepoxilin biosynthetic processGO:005112210.4ALOX12B, ALOXE3
3keratinocyte differentiationGO:00302169.9ABCA12, TGM1
4lipoxygenase pathwayGO:00193729.8ALOX12B, ALOX15B, ALOXE3
5sphingolipid metabolic processGO:00066659.7ALOX12B, ALOXE3
6arachidonic acid metabolic processGO:00193699.6ALOX12B, ALOX15B
7magnesium ion transportGO:00156938.8NIPA1, NIPA2, NIPAL2, NIPAL4

Sources for Autosomal Recessive Congenital Ichthyosis

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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