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: C0020757
Disease: Ichthyoses
Ichthyoses 		0.120 GeneticVariation disease LHGDN Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. 15317751 2004
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: C0020757
Disease: Ichthyoses
Ichthyoses 		0.120 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013592
Disease: Ectropion
Ectropion 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0017086
Disease: Gangrene
Gangrene 		0.100 Biomarker disease HPO
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		0.100 Biomarker disease HPO
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.100 Biomarker disease HPO
CUI: C0022568
Disease: Keratitis
Keratitis 		0.100 Biomarker disease HPO
CUI: C0030436
Disease: Parakeratosis
Parakeratosis 		0.100 Biomarker disease HPO
CUI: C0243026
Disease: Sepsis
Sepsis 		0.100 Biomarker disease HPO
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		0.100 Biomarker disease HPO
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease HPO
CUI: C0392163
Disease: Corneal erosion
Corneal erosion 		0.100 Biomarker disease HPO
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		0.100 Biomarker disease HPO
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.100 Biomarker disease HPO
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.100 Biomarker disease HPO
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