eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| mednik syndrome | ||||
| Disease ID | 1773 |
|---|---|
| Disease | mednik syndrome |
| Definition | MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), has characteristics of intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis and keratodermia. The syndrome has been described in four families descending from limited number of ancestors in Quebec. The disease is due to a mutation in the AP1S1 gene encoding the small subunit sigma1A of the AP-1 complex. Transmission is autosomal recessive. |
| Synonym | ekv3 erythrokeratodermia variabilis 3 erythrokeratodermia variabilis 3 (disorder) erythrokeratodermia variabilis kamouraska type erythrokeratodermia variabilis, kamouraska type intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) mednik mednik (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1836330 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:6) |
| Locus | Symbol | Locus(Total Locus:1) AP1S1 | 7q22.1 |
| Disease ID | 1773 |
|---|---|
| Disease | mednik syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0000962 | Hyperkeratosis HP:0001406 | Intrahepatic cholestasis HP:0002242 | Abnormality of the intestine HP:0009830 | Peripheral neuropathy HP:0010837 | Decreased serum ceruloplasmin HP:0011967 | Hypocupremia HP:0008064 | Ichthyosis HP:0001249 | Intellectual disability |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1773 |
|---|---|
| Disease | mednik syndrome |
| Manually Symptom | (Waiting for update.) |
| 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: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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001406 | Intrahepatic cholestasis | MP:0005415 | intrahepatic cholestasis | impairment of bile flow due to injury to the hepatocytes, bile canaliculi, or the intrahepatic bile ducts |
| HP:0002242 | Abnormality of the intestine | MP:0004497 | decreased organ of Corti supporting cell number | decreased number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti |
Mapped by homologous gene(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001406 | Intrahepatic cholestasis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002242 | Abnormality of the intestine | MP:0013006 | abnormal enteric neural crest cell migration | any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal t |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010837 | Decreased serum ceruloplasmin | MP:0013905 | preputial gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in any of the paired, lobulated, modified sebaceous glands located in the inguinal region adjacent to the penis and vagina, with pheromonal functions in male rodents; in males, the preputial gla |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1773 |
|---|---|
| Disease | mednik syndrome |
| Case | (Waiting for update.) |