NIPAL4, NIPA like domain containing 4, 348938

N. diseases: 42; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GeneticVariation disease BEFREE Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. 26456858 2016
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GeneticVariation disease BEFREE To clarify the changes of ceramide components in the lesional stratum corneum (SC) and the gene expression profile in the lesional skin of an ARCI patient with a novel frameshift mutation in NIPAL4. 31836270 2020
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GeneticVariation disease BEFREE Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4. 31347739 2019
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GeneticVariation disease BEFREE A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. 28122049 2017
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GeneticVariation disease BEFREE Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab. 31532840 2019
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 AlteredExpression disease BEFREE We also determined by ISH that NIPAL4 mRNA is highly expressed in the granular cell layer of the epidermis, consistent with the ARCI phenotype. 20016120 2010
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GeneticVariation disease BEFREE Two of the NIPAL4 mutation bearing pedigrees were classified as CIE and one as LI. 22098531 2012
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GeneticVariation disease BEFREE NIPAL4 is one of the causative genes for autosomal recessive congenital ichthyosis. 29174370 2018
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.120 Biomarker disease BEFREE However, the role of NIPAL4 in skin barrier formation and the molecular mechanism of ichthyosis pathology caused by NIPAL4 mutations, have not yet been determined. 29174370 2018
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.080 AlteredExpression disease BEFREE We also determined by ISH that NIPAL4 mRNA is highly expressed in the granular cell layer of the epidermis, consistent with the ARCI phenotype. 20016120 2010
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.080 GeneticVariation disease BEFREE To clarify the changes of ceramide components in the lesional stratum corneum (SC) and the gene expression profile in the lesional skin of an ARCI patient with a novel frameshift mutation in NIPAL4. 31836270 2020
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.080 GeneticVariation disease BEFREE Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab. 31532840 2019
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.080 GeneticVariation disease BEFREE Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. 26456858 2016
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.080 GeneticVariation disease BEFREE Two of the NIPAL4 mutation bearing pedigrees were classified as CIE and one as LI. 22098531 2012
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.080 GeneticVariation disease BEFREE NIPAL4 is one of the causative genes for autosomal recessive congenital ichthyosis. 29174370 2018
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.080 GeneticVariation disease BEFREE Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4. 31347739 2019
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.080 GeneticVariation disease BEFREE A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. 28122049 2017
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.070 Biomarker disease BEFREE However, the role of NIPAL4 in skin barrier formation and the molecular mechanism of ichthyosis pathology caused by NIPAL4 mutations, have not yet been determined. 29174370 2018
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.070 AlteredExpression disease BEFREE We also determined by ISH that NIPAL4 mRNA is highly expressed in the granular cell layer of the epidermis, consistent with the ARCI phenotype. 20016120 2010
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.070 GeneticVariation disease BEFREE A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. 28122049 2017
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.070 GeneticVariation disease BEFREE To clarify the changes of ceramide components in the lesional stratum corneum (SC) and the gene expression profile in the lesional skin of an ARCI patient with a novel frameshift mutation in NIPAL4. 31836270 2020
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.070 GeneticVariation disease BEFREE Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab. 31532840 2019
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.070 GeneticVariation disease BEFREE Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. 26456858 2016
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.070 GeneticVariation disease BEFREE Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4. 31347739 2019
CUI: C0022408
Disease: Arthropathy
Arthropathy 		0.010 GeneticVariation group BEFREE We describe a patient with ARCI caused by homozygous variants in NIPAL4, in whom the dermatologic phenotype and an associated arthropathy, markedly improved with ustekinumab. 31532840 2019