PedAM
Pediatric Disease Annotations & Medicines
| acrodermatitis enteropathica | ||||
| Disease ID | 294 |
|---|---|
| Disease | acrodermatitis enteropathica |
| Definition | severe human skin and gastrointestinal disease inherited as a recessive autosomal trait that is characterized by the symptoms of zinc deficiency and clears up when zinc is added to the diet. |
| Synonym | acrodermatitis enteropathica zinc deficiency type acrodermatitis enteropathica, zinc-deficiency type ae - acrodermatitis enteropathica aez brandt syndrome danbolt-close syndrome danbolt-closs syndrome hereditary acrodermatitis enterohepatica hereditary acrodermatitis enteropathica hereditary acrodermatitis enteropathica (disorder) primary zinc malabsorption primary zinc malabsorption syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0221036 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0007570 | celiac disease | 1 C0010674 | cystic fibrosis | 1 C0036992 | short bowel syndrome | 1 C0003125 | anorexia nervosa | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:42) 81576 | CCDC130 | DISEASES 4790 | NFKB1 | DISEASES 6662 | SOX9 | DISEASES 1446 | CSN1S1 | DISEASES 22873 | DZIP1 | DISEASES 4069 | LYZ | DISEASES 642 | BLMH | DISEASES 7782 | SLC30A4 | DISEASES 898 | CCNE1 | DISEASES 10133 | OPTN | DISEASES 11181 | TREH | DISEASES 3938 | LCT | DISEASES 1161 | ERCC8 | DISEASES 6523 | SLC5A1 | DISEASES 7112 | TMPO | DISEASES 283375 | SLC39A5 | DISEASES 3858 | KRT10 | DISEASES 123 | PLIN2 | DISEASES 5651 | TMPRSS15 | DISEASES 4645 | MYO5B | DISEASES 2071 | ERCC3 | DISEASES 213 | ALB | DISEASES 29986 | SLC39A2 | DISEASES 5245 | PHB | DISEASES 55630 | SLC39A4 | DISEASES 2752 | GLUL | DISEASES 27173 | SLC39A1 | DISEASES 1811 | SLC26A3 | DISEASES 148867 | SLC30A7 | DISEASES 7779 | SLC30A1 | DISEASES 4000 | LMNA | DISEASES 4942 | OAT | DISEASES 10269 | ZMPSTE24 | DISEASES 7780 | SLC30A2 | DISEASES 55676 | SLC30A6 | DISEASES 51360 | MBTPS2 | DISEASES 64924 | SLC30A5 | DISEASES 2641 | GCG | DISEASES 29803 | REPIN1 | DISEASES 488 | ATP2A2 | DISEASES 6999 | TDO2 | DISEASES 162514 | TRPV3 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) SLC39A4 | 8q24.3 |
| Disease ID | 294 |
|---|---|
| Disease | acrodermatitis enteropathica |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:49) HP:0008402 | Ridged fingernail HP:0005435 | Impaired T cell function HP:0000492 | Abnormality of the eyelid HP:0000534 | Abnormality of the eyebrow HP:0004322 | Stature below 3rd percentile HP:0002293 | Scalp hair loss HP:0001824 | Weight loss HP:0000221 | Furrowed tongue HP:0000712 | Emotional instability HP:0002014 | Diarrhea HP:0000135 | Hypogonadism HP:0200020 | Corneal erosion HP:0001508 | Weight faltering HP:0002240 | Enlarged liver HP:0005401 | Recurrent candida infections HP:0001596 | Alopecia HP:0008734 | Decreased testicular size HP:0004322 | Short stature HP:0001251 | Ataxia HP:0001254 | Lethargy HP:0004396 | Poor appetite HP:0000498 | Blepharitis HP:0000224 | Decreased taste HP:0001807 | Ridged nail HP:0011354 | Generalized abnormality of skin HP:0001744 | Splenomegaly HP:0200039 | Pustule HP:0010783 | Erythema HP:0200042 | Skin ulcer HP:0008066 | Abnormal blistering of the skin HP:0000157 | Abnormality of the tongue HP:0000737 | Irritability HP:0000505 | Visual impairment HP:0003282 | Decreased serum alkaline phosphatase HP:0001597 | Abnormality of the nail HP:0000509 | Conjunctivitis HP:0000958 | Dry skin HP:0002024 | Malabsorption HP:0001818 | Paronychia HP:0100825 | Cheilitis HP:0000712 | Emotional lability HP:0000206 | Glossitis HP:0002028 | Chronic diarrhea HP:0008230 | Decreased testosterone in males HP:0002120 | Cerebral cortical atrophy HP:0001508 | Failure to thrive HP:0002039 | Anorexia HP:0000613 | Photophobia HP:0001337 | Tremor |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 294 |
|---|---|
| Disease | acrodermatitis enteropathica |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:11) C1963709 | abetalipoproteinemia C1963138 | hypertension C1962983 | cataract C1961102 | acute lymphocytic leukemia C0850497 | immune deficiency C0235950 | zinc deficiency C0152455 | keratomalacia C0086438 | hypogammaglobulinemia C0037285 | skin manifestations C0037284 | skin lesions C0015411 | eye manifestations |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434287 | NA | 55630 | SLC39A4 | umls:C0221036 | CLINVAR | NA | 0.564071628 | NA | SLC39A4 | 8 | 144415295 | G | A |
| rs121434288 | NA | 55630 | SLC39A4 | umls:C0221036 | CLINVAR | NA | 0.564071628 | NA | SLC39A4 | 8 | 144413288 | C | T |
| rs121434289 | NA | 55630 | SLC39A4 | umls:C0221036 | CLINVAR | NA | 0.564071628 | NA | SLC39A4 | 8 | 144414291 | C | T |
| rs121434290 | NA | 55630 | SLC39A4 | umls:C0221036 | CLINVAR | NA | 0.564071628 | NA | SLC39A4 | 8 | 144415966 | G | T |
| rs121434291 | NA | 55630 | SLC39A4 | umls:C0221036 | CLINVAR | NA | 0.564071628 | NA | SLC39A4 | 8 | 144414422 | C | T |
| rs121434292 | NA | 55630 | SLC39A4 | umls:C0221036 | CLINVAR | NA | 0.564071628 | NA | SLC39A4 | 8 | 144416001 | G | T,A |
| rs121434293 | NA | 55630 | SLC39A4 | umls:C0221036 | CLINVAR | NA | 0.564071628 | NA | SLC39A4 | 8 | 144414792 | C | G |
| rs1871534 | 24586184 | 55630 | SLC39A4 | umls:C0221036 | BeFree | The possible functional effect of the Leu372Val substitution, together with two pathological mutations at the same codon (Leu372Pro and Leu372Arg) that cause acrodermatitis enteropathica (a disease phenotype characterized by extreme zinc deficiency), was investigated by transient overexpression of human ZIP4 protein in HeLa cells. | 0.564071628 | 2013 | NA | NA | NA | NA | NA |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |