MCID: ICH014
MIFTS: 21

Ichthyosis Lamellar 1

Categories: Rare diseases

Aliases & Classifications for Ichthyosis Lamellar 1

MalaCards integrated aliases for Ichthyosis Lamellar 1:

Name: Ichthyosis Lamellar 1 39 54
Collodion Fetus 54 74
Lamellar Exfoliation of Newborn 54
Lamellar Ichthyosis, Type 1 54
Desquamation of Newborn 54
Congenital Ichthyosis 74
Ichthyosis Congenita 54
Li1 54

Classifications:



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Summaries for Ichthyosis Lamellar 1

MalaCards based summary : Ichthyosis Lamellar 1, also known as collodion fetus, is related to keratosis linearis with ichthyosis congenita and sclerosing keratoderma and ichthyosis congenita with biliary atresia, and has symptoms including trichorrhexis invaginata Affiliated tissues include Epidermis and Epidermis.

Related Diseases for Ichthyosis Lamellar 1

Graphical network of the top 20 diseases related to Ichthyosis Lamellar 1:



Diseases related to Ichthyosis Lamellar 1

Symptoms & Phenotypes for Ichthyosis Lamellar 1

UMLS symptoms related to Ichthyosis Lamellar 1:


trichorrhexis invaginata

Drugs & Therapeutics for Ichthyosis Lamellar 1

Search Clinical Trials , NIH Clinical Center for Ichthyosis Lamellar 1

Genetic Tests for Ichthyosis Lamellar 1

Anatomical Context for Ichthyosis Lamellar 1

MalaCards organs/tissues related to Ichthyosis Lamellar 1:

42
Skin, Bone, Testes, Ovary, T Cells
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Ichthyosis Lamellar 1:
# Tissue Anatomical CompartmentCell Relevance
1 Epidermis Stratified Epidermis Corneocytes Affected by disease
2 Epidermis Stratified Epidermis Granular Keratinocytes Affected by disease
3 Epidermis Stratified Epidermis Spinous Keratinocytes Affected by disease

Publications for Ichthyosis Lamellar 1

Articles related to Ichthyosis Lamellar 1:

(show top 50) (show all 204)
# Title Authors Year
1
Transglutaminase 1 Replacement Therapy Successfully Mitigates the Autosomal Recessive Congenital Ichthyosis Phenotype in Full-Thickness Skin Disease Equivalents. ( 30448383 )
2019
2
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. ( 30600594 )
2019
3
NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy. ( 30741495 )
2019
4
Proteomic manifestations of genetic defects in autosomal recessive congenital ichthyosis. ( 30978464 )
2019
5
Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters. ( 31012992 )
2019
6
Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing. ( 31081706 )
2019
7
Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis. ( 28906551 )
2018
8
Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis. ( 28983987 )
2018
9
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5. ( 29400301 )
2018
10
Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study. ( 29786154 )
2018
11
ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications. ( 29887490 )
2018
12
Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis. ( 30007077 )
2018
13
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. ( 30011118 )
2018
14
Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan. ( 30268591 )
2018
15
Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families. ( 30578701 )
2018
16
Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients. ( 30655104 )
2018
17
Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients. ( 30693114 )
2018
18
Non-surgical management of congenital ichthyosis using hyaluronic acid gel injection. ( 30354490 )
2018
19
Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response? ( 30372788 )
2018
20
Recurrent terbinafine resistant Trichophyton rubrum infection in a child with congenital ichthyosis. ( 29341312 )
2018
21
Congenital ichthyosis patient with squamous cell carcinoma of the skin who received concurrent chemoradiation: A case report. ( 29556584 )
2018
22
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. ( 27449533 )
2017
23
Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis. ( 27735052 )
2017
24
Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis. ( 27769845 )
2017
25
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity. ( 27884779 )
2017
26
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function. ( 28093717 )
2017
27
A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. ( 28122049 )
2017
28
PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier. ( 28369476 )
2017
29
Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family. ( 28369735 )
2017
30
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. ( 28403545 )
2017
31
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. ( 28575648 )
2017
32
Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis. ( 28833017 )
2017
33
Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes. ( 28875980 )
2017
34
Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis. ( 29624231 )
2017
35
Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation. ( 27868147 )
2017
36
Clinico-epidemiological Study of Congenital Ichthyosis in a Tertiary Care Center of Eastern India. ( 29263534 )
2017
37
Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis. ( 26220141 )
2016
38
Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. ( 26456858 )
2016
39
A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis. ( 26575587 )
2016
40
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. ( 26578203 )
2016
41
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. ( 26620441 )
2016
42
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. ( 26646773 )
2016
43
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family. ( 26778108 )
2016
44
Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis. ( 26990434 )
2016
45
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. ( 27025581 )
2016
46
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families. ( 27061915 )
2016
47
Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders. ( 27085231 )
2016
48
Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy. ( 27237723 )
2016
49
Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. ( 28173123 )
2016
50
A rare association between constrictive pericarditis and congenital ichthyosis. ( 27808428 )
2016

Variations for Ichthyosis Lamellar 1

Expression for Ichthyosis Lamellar 1

Search GEO for disease gene expression data for Ichthyosis Lamellar 1.

Pathways for Ichthyosis Lamellar 1

GO Terms for Ichthyosis Lamellar 1

Sources for Ichthyosis Lamellar 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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33 HPO
34 ICD10
35 ICD10 via Orphanet
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38 KEGG
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45 MeSH
46 MESH via Orphanet
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50 NCI
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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