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	ichthyosis linearis circumflexa

Disease ID	578
Disease	ichthyosis linearis circumflexa
Definition	Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene.
Synonym	axial osteosclerosis with bamboo hair comel-netherton syndrome disease, netherton erythroderma, ichthyosiform, with hypotrichosis and hyper-ige ichthyosis linearis circumflexa (disorder) lamellar ichthyosis and trichorrhexis invaginata syndrome lamellar ichthyosis and trichorrhexis invaginata syndrome (disorder) neth netherton disease netherton syndrome netherton syndrome [disease/finding] netherton's disease netherton's syndrome netherton's syndrome (disorder) netherton's syndrome [ambiguous] nethertons syndrome syndrome, netherton
Orphanet	ORPHANET:634
OMIM	OMIM:256500
DOID	DOID:0050474
UMLS	C0265962
MeSH	D056770
SNOMED-CT	SNOMEDCT_US_2016_09_01:54336006;SNOMEDCT_US_2016_09_01:34638006;SNOMEDCT_US_2016_09_01:312514006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:7) C0007114 \| skin cancer \| 2 C0013338 \| growth hormone deficiency \| 1 C0699893 \| non-melanoma skin cancer \| 1 C0265962 \| ichthyosis linearis circumflexa \| 1 C0020757 \| ichthyosis \| 1 C0025202 \| melanoma \| 1 C0007114 \| skin cancers \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 6768 \| ST14 \| CTD_human 11005 \| SPINK5 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:31) 488 \| ATP2A2 \| 2.083 \| DISEASES 834 \| CASP1 \| 1.289 \| DISEASES 1041 \| CDSN \| 2.82 \| DISEASES 387836 \| CLEC2A \| 2.525 \| DISEASES 1506 \| CTRL \| 2.981 \| DISEASES 100289462 \| DEFB4B \| 1.895 \| DISEASES 81704 \| DOCK8 \| 1.848 \| DISEASES 1825 \| DSC3 \| 1.551 \| DISEASES 147409 \| DSG4 \| 2.085 \| DISEASES 2312 \| FLG \| 2.906 \| DISEASES 2707 \| GJB3 \| 1.685 \| DISEASES 127534 \| GJB4 \| 2.345 \| DISEASES 3178 \| HNRNPA1 \| 1.405 \| DISEASES 3605 \| IL17A \| 1.081 \| DISEASES 29949 \| IL19 \| 1.716 \| DISEASES 386653 \| IL31 \| 1.46 \| DISEASES 3713 \| IVL \| 3.024 \| DISEASES 11012 \| KLK11 \| 1.871 \| DISEASES 9622 \| KLK4 \| 3.728 \| DISEASES 25818 \| KLK5 \| 5.929 \| DISEASES 5650 \| KLK7 \| 5.499 \| DISEASES 5641 \| LGMN \| 1.952 \| DISEASES 4014 \| LOR \| 1.576 \| DISEASES 51360 \| MBTPS2 \| 2.09 \| DISEASES 5238 \| PGM3 \| 2.225 \| DISEASES 11005 \| SPINK5 \| 7.99 \| DISEASES 643394 \| SPINK9 \| 4.507 \| DISEASES 7053 \| TGM3 \| 1.6 \| DISEASES 6434 \| TRA2B \| 2.435 \| DISEASES 85480 \| TSLP \| 3.495 \| DISEASES 157680 \| VPS13B \| 1.649 \| DISEASES
Locus	(Waiting for update.)

Disease ID	578
Disease	ichthyosis linearis circumflexa
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0008064 \| Ichthyosis \| 2 HP:0011123 \| Skin inflammation \| 1 HP:0001508 \| Weight faltering \| 1 HP:0002861 \| Melanoma \| 1 HP:0000824 \| Growth hormone deficiency \| 1 HP:0001019 \| Exfoliative dermititis \| 1 HP:0004906 \| Hypernatremic dehydration \| 1 HP:0003777 \| Pili torti \| 1

Disease ID	578
Disease	ichthyosis linearis circumflexa
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0037285 \| skin manifestation
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
SPINK5	NM_001127698.1, NP_001121170.1;c.1111C>T, p.(Arg371);Chr5:g.147503414C>T, heterozygous;NM_001127698.1, NP_001121170.1;c.2557C>T, p.(Arg853)	doi:10.1038/gim.2016.1	A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908387	NA	11005	SPINK5	umls:C0265962	CLINVAR	NA	0.452214884	NA	SPINK5	5	148120063	C	T
rs2303067	19438860	11005	SPINK5	umls:C0265962	BeFree	This finding indicates that haploinsufficiency of SPINK5 can cause the NS phenotype in the presence of one null mutation with homozygous G1258A polymorphisms in SPINK5, and this could impair the function of LEKTI and therefore acts as a true mutation.	0.452214884	2009	SPINK5	5	148101392	A	G
rs587777749	NA	11005	SPINK5	umls:C0265962	CLINVAR	NA	0.452214884	NA	SPINK5	5	148086403	A	T
rs587777750	NA	11005	SPINK5	umls:C0265962	CLINVAR	NA	0.452214884	NA	SPINK5	5	148120321	-	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	578
Disease	ichthyosis linearis circumflexa
Case	(Waiting for update.)

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