PedAM

Pediatric Disease Annotations & Medicines


	peeling skin syndrome

Disease ID	939
Disease	peeling skin syndrome
Definition	Peeling skin syndrome (also known as Acral peeling skin syndrome, Continual peeling skin syndrome, Familial continual skin peeling, Idiopathic deciduous skin, and Keratolysis exfoliativa congenita[1]) is an autosomal recessive disorder characterized by lifelong peeling of the stratum corneum, and may be associated with pruritus, short stature, and easily removed anagen hair.[2]:502 - Wikipedia Reference: https://en.wikipedia.org/wiki/peeling skin syndrome
Synonym	deciduous skin keratolysis exfoliativa congenita peeling skin syndrome 1 skin peeling, familial continuous generalized
Orphanet	ORPHANET:817
OMIM	OMIM:270300
DOID	DOID:0060283
UMLS	C1849193
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0022658 \| nephropathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) TGM5 \| 9333 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:35) 3861 \| KRT14 \| DISEASES 9333 \| TGM5 \| DISEASES 5184 \| PEPD \| DISEASES 3848 \| KRT1 \| DISEASES 1828 \| DSG1 \| DISEASES 1823 \| DSC1 \| DISEASES 170680 \| PSORS1C2 \| DISEASES 29113 \| C6orf15 \| DISEASES 170679 \| PSORS1C1 \| DISEASES 1829 \| DSG2 \| DISEASES 64377 \| CHST8 \| DISEASES 1475 \| CSTA \| DISEASES 3858 \| KRT10 \| DISEASES 6768 \| ST14 \| DISEASES 1824 \| DSC2 \| DISEASES 6777 \| STAT5B \| DISEASES 200879 \| LIPH \| DISEASES 3816 \| KLK1 \| DISEASES 121391 \| KRT74 \| DISEASES 404203 \| SPINK6 \| DISEASES 1294 \| COL7A1 \| DISEASES 85480 \| TSLP \| DISEASES 26151 \| NAT9 \| DISEASES 11005 \| SPINK5 \| DISEASES 1825 \| DSC3 \| DISEASES 4014 \| LOR \| DISEASES 3713 \| IVL \| DISEASES 3107 \| HLA-C \| DISEASES 6941 \| TCF19 \| DISEASES 1041 \| CDSN \| DISEASES 643394 \| SPINK9 \| DISEASES 1832 \| DSP \| DISEASES 54535 \| CCHCR1 \| DISEASES 834 \| CASP1 \| DISEASES 6171 \| RPL41 \| DISEASES
Locus	(Waiting for update.)

Disease ID	939
Disease	peeling skin syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:7) HP:0008064 \| Ichthyosis HP:0007565 \| Multiple cafe-au-lait spots HP:0000975 \| Hyperhidrosis HP:0000958 \| Dry skin HP:0008066 \| Abnormal blistering of the skin HP:0003355 \| Aminoaciduria HP:0010719 \| Abnormality of hair texture
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0000112 \| Nephropathy \| 1

Disease ID	939
Disease	peeling skin syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:0)
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GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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