eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| naxos disease | ||||
| Disease ID | 1049 |
|---|---|
| Disease | naxos disease |
| Definition | A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy and a cutaneous phenotype with manifestation of peculiar woolly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Woolly hair appears from birth, palmoplantar keratoderma develops during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Symptoms of right heart failure appear during the end stages of the disease. |
| Synonym | cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities keratoderma with woolly hair type i keratoderma with wooly hair type i keratosis palmoplantaris and arrythmogenic cardiomyopathy syndrome keratosis palmoplantaris and arrythmogenic cardiomyopathy syndrome (disorder) keratosis palmoplantaris with arrhythmogenic cardiomyopathy mal de naxos nxd palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair woolly hair, palmoplantar keratoderma, and cardiac abnormalities |
| Orphanet | |
| OMIM | |
| UMLS | C1832600 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) JUP | 17q21.2 |
| Disease ID | 1049 |
|---|---|
| Disease | naxos disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0001635 | Congestive heart failure HP:0000975 | Hyperhidrosis HP:0002321 | Vertigo HP:0001645 | Sudden cardiac death HP:0010719 | Abnormality of hair texture HP:0005141 | Episodes of ventricular tachycardia HP:0002209 | Sparse scalp hair HP:0011675 | Arrhythmia HP:0000204 | Cleft upper lip HP:0002212 | Curly hair HP:0002224 | Woolly hair HP:0000956 | Acanthosis nigricans HP:0000982 | Palmoplantar keratoderma HP:0001638 | Cardiomyopathy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1049 |
|---|---|
| Disease | naxos disease |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113994177 | NA | 3728 | JUP | umls:C1832600 | CLINVAR | NA | 0.44 | NA | JUP | 17 | 41757422 | CA | - |
| rs782440692 | NA | 3728 | JUP | umls:C1832600 | CLINVAR | NA | 0.44 | NA | JUP | 17 | 41767494 | C | T |
| rs782460555 | NA | 3728 | JUP | umls:C1832600 | CLINVAR | NA | 0.44 | NA | JUP | 17 | 41771784 | G | A,T |
| rs797046139 | NA | 3728 | JUP | umls:C1832600 | CLINVAR | NA | 0.44 | NA | JUP | 17 | 41758753 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002224 | Woolly hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| 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:0002209 | Sparse scalp hair | MP:0011195 | increased hair follicle apoptosis | greater than expected levels of programmed cell death of cells in the epidermis from which the hair shaft develops |
| HP:0002212 | Curly hair | MP:0003809 | abnormal hair shaft morphology | any structural anomaly of the cuticle, cortex and/or medulla of a hair |
| HP:0001645 | Sudden cardiac death | MP:0012557 | decreased calcium uptake by cardiac muscle | decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease |
| HP:0000204 | Cleft upper lip | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
Mapped by homologous gene(Total Items:14) | ||||
|---|---|---|---|---|
| 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:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0005141 | Episodes of ventricular tachycardia | MP:0013278 | decreased fasted circulating glucose level | reduction in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0010719 | Abnormality of hair texture | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0000204 | Cleft upper lip | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000956 | Acanthosis nigricans | 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:0001645 | Sudden cardiac death | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000982 | Palmoplantar keratoderma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001638 | Cardiomyopathy | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002224 | Woolly hair | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0002212 | Curly hair | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0002209 | Sparse scalp hair | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002321 | Vertigo | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1049 |
|---|---|
| Disease | naxos disease |
| Case | (Waiting for update.) |