eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| peeling skin syndrome | ||||
| Disease ID | 1573 |
|---|---|
| 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 | |
| OMIM | |
| DOID | |
| UMLS | C1849193 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:16) 834 | CASP1 | 1.113 | DISEASES 54535 | CCHCR1 | 4.54 | DISEASES 1041 | CDSN | 5.512 | DISEASES 1294 | COL7A1 | 2.072 | DISEASES 1825 | DSC3 | 2.378 | DISEASES 1832 | DSP | 1.892 | DISEASES 3107 | HLA-C | 2.696 | DISEASES 3713 | IVL | 1.521 | DISEASES 4014 | LOR | 2.225 | DISEASES 26151 | NAT9 | 2.053 | DISEASES 6171 | RPL41 | 3.457 | DISEASES 11005 | SPINK5 | 3.235 | DISEASES 404203 | SPINK6 | 4.005 | DISEASES 643394 | SPINK9 | 4.288 | DISEASES 6941 | TCF19 | 5.1 | DISEASES 85480 | TSLP | 2.509 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1573 |
|---|---|
| Disease | peeling skin syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:7) HP:0000975 | Hyperhidrosis HP:0000958 | Dry skin HP:0010719 | Abnormality of hair texture HP:0003355 | Aminoaciduria HP:0007565 | Multiple cafe-au-lait spots HP:0008066 | Abnormal blistering of the skin HP:0008064 | Ichthyosis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1573 |
|---|---|
| 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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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010719 | Abnormality of hair texture | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000958 | Dry skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0008066 | Abnormal blistering of the skin | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
Mapped by homologous gene(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000975 | Hyperhidrosis | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010719 | Abnormality of hair texture | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0003355 | Aminoaciduria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008066 | Abnormal blistering of the skin | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0007565 | Multiple cafe-au-lait spots | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| Disease ID | 1573 |
|---|---|
| Disease | peeling skin syndrome |
| Case | (Waiting for update.) |