eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acrodermatitis enteropathica | ||||
| Disease ID | 514 |
|---|---|
| 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 C0036992 | short bowel syndrome | 1 C0010674 | cystic fibrosis | 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:15) 488 | ATP2A2 | 1.713 | DISEASES 2641 | GCG | 1.253 | DISEASES 4000 | LMNA | 1.183 | DISEASES 51360 | MBTPS2 | 2.544 | DISEASES 4942 | OAT | 1.543 | DISEASES 29803 | REPIN1 | 3.291 | DISEASES 1811 | SLC26A3 | 1.907 | DISEASES 7779 | SLC30A1 | 2.76 | DISEASES 7780 | SLC30A2 | 5.258 | DISEASES 64924 | SLC30A5 | 4.343 | DISEASES 55676 | SLC30A6 | 3.362 | DISEASES 148867 | SLC30A7 | 3.496 | DISEASES 6999 | TDO2 | 2.344 | DISEASES 162514 | TRPV3 | 2.724 | DISEASES 10269 | ZMPSTE24 | 2.405 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) SLC39A4 | 8q24.3 |
| Disease ID | 514 |
|---|---|
| Disease | acrodermatitis enteropathica |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:49) HP:0000157 | Abnormality of the tongue HP:0002240 | Enlarged liver HP:0000492 | Abnormality of the eyelid HP:0004322 | Short stature HP:0001824 | Weight loss HP:0008734 | Decreased testicular size HP:0005435 | Impaired T cell function HP:0100825 | Cheilitis HP:0001807 | Ridged nail HP:0000135 | Hypogonadism HP:0010783 | Erythema HP:0000712 | Emotional instability HP:0004322 | Stature below 3rd percentile HP:0001251 | Ataxia HP:0002014 | Diarrhea HP:0001254 | Lethargy HP:0200020 | Corneal erosion HP:0002028 | Chronic diarrhea HP:0000206 | Glossitis HP:0011354 | Generalized abnormality of skin HP:0002120 | Cerebral cortical atrophy HP:0002293 | Scalp hair loss HP:0200042 | Skin ulcer HP:0000224 | Decreased taste HP:0008066 | Abnormal blistering of the skin HP:0008402 | Ridged fingernail HP:0002024 | Malabsorption HP:0000221 | Furrowed tongue HP:0008230 | Decreased testosterone in males HP:0005401 | Recurrent candida infections HP:0000498 | Blepharitis HP:0001508 | Weight faltering HP:0003282 | Decreased serum alkaline phosphatase HP:0001508 | Failure to thrive HP:0000712 | Emotional lability HP:0001597 | Abnormality of the nail HP:0004396 | Poor appetite HP:0001744 | Splenomegaly HP:0001596 | Alopecia HP:0000505 | Visual impairment HP:0000958 | Dry skin HP:0001337 | Tremor HP:0001818 | Paronychia HP:0000613 | Photophobia HP:0000509 | Conjunctivitis HP:0000737 | Irritability HP:0002039 | Anorexia HP:0200039 | Pustule HP:0000534 | Abnormality of the eyebrow |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 514 |
|---|---|
| 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.) |
Text Mining Genotype(Total 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) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008734 | Decreased testicular size | MP:0003205 | testicular atrophy | acquired diminution of the size of the testis associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal cha |
| HP:0001807 | Ridged nail | MP:0012405 | abnormal nail matrix morphology | any structural anomaly of the nail-forming area of the nail bed comprised of a germinal matrix, responsible for most of the nail production, and the sterile matrix, a secondary site of nail production which is tightly adherent to the nail plate |
| HP:0000492 | Abnormality of the eyelid | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| 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 |
| HP:0000534 | Abnormality of the eyebrow | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0000221 | Furrowed tongue | MP:0000764 | abnormal tongue epithelium morphology | any structural anomaly of the epithelial layer of the tongue |
| HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0008230 | Decreased testosterone in males | MP:0002780 | decreased circulating testosterone level | reduction in the blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0002028 | Chronic diarrhea | MP:0005036 | diarrhea | abnormally frequent discharge of semi-solid or fluid fecal matter from the bowel |
| HP:0003282 | Low alkaline phosphatase | MP:0002966 | decreased circulating alkaline phosphatase level | reduced concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters |
| 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:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000157 | Abnormality of the tongue | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0005435 | Impaired T cell function | MP:0008347 | decreased gamma-delta T cell number | reduced number of immature or mature T cells expressing an gamma-delta T cell receptor complex |
| HP:0002293 | Alopecia of scalp | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:45) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004396 | Poor appetite | MP:0013467 | diaphragmitis | inflammation of the diaphragm |
| HP:0002028 | Chronic diarrhea | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002293 | Alopecia of scalp | MP:0013282 | urinary bladder exstrophy | a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the de |
| HP:0005401 | Recurrent candida infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000509 | Conjunctivitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0000221 | Furrowed tongue | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0008230 | Decreased testosterone in males | MP:0013737 | small bulbourethral gland | reduced size of either of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia o |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000135 | Hypogonadism | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000712 | Emotional lability | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0200020 | Corneal erosion | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0005435 | Impaired T cell function | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002039 | Anorexia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000206 | Glossitis | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0000737 | Irritability | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008734 | Decreased testicular size | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001254 | Lethargy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0200039 | Pustule | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0000157 | Abnormality of the tongue | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000492 | Abnormality of the eyelid | 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:0001807 | Ridged nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008402 | Ridged fingernail | MP:0011096 | embryonic lethality between implantation and somite formation, complete penetrance | death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8) |
| HP:0000224 | Decreased taste sensation | MP:0012541 | absent lamina terminalis | absence of the anterior-most (rostral) portion of the wall of the neural tube, formed by closure of the anterior neuropore; agenesis of the lamina terminalis results in anencephaly |
| HP:0003282 | Low alkaline phosphatase | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100825 | Cheilitis | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001818 | Paronychia | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0000534 | Abnormality of the eyebrow | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000498 | Blepharitis | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 514 |
|---|---|
| Disease | acrodermatitis enteropathica |
| Case | (Waiting for update.) |