eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| diffuse neonatal hemangiomatosis | ||||
| Disease ID | 1482 |
|---|---|
| Disease | diffuse neonatal hemangiomatosis |
| Definition | Diffuse neonatal hemangiomatosis is a potentially fatal disorder with multiple cutaneous and systemic hemangiomas.[1] The most common site of internal organ involvement is the liver. Death can result from high-output cardiac failure as a result of arteriovenous shunting. Early detection and treatment with steroids results in most patients remaining healthy, with serious problems developing for some patients during the hemangiomas growth phase.[2] - Wikipedia Reference: https://en.wikipedia.org/wiki/diffuse neonatal hemangiomatosis |
| Synonym | diffuse neonatal haemangiomatosis eruptive neonatal haemangiomatosis eruptive neonatal hemangiomatosis multiple progressive angiomata multiple progressive haemangiomata multiple progressive hemangiomata multiple progressive hemangiomata (disorder) |
| Orphanet | |
| UMLS | C0474965 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C1332900 | cerebellar hemangioblastoma | 1 C0018916 | hemangiomas | 1 C0677608 | chorangioma | 1 C0018802 | congestive heart failure | 1 C0018801 | heart failure | 1 C0206734 | hemangioblastoma | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1482 |
|---|---|
| Disease | diffuse neonatal hemangiomatosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:19) HP:0008678 | Renal hypoplasia/aplasia HP:0003072 | Hypercalcemia HP:0001789 | Hydrops fetalis HP:0000142 | Abnormality of the vagina HP:0001873 | Thrombocytopenia HP:0000083 | Renal insufficiency HP:0001928 | Abnormality of coagulation HP:0002564 | Malformation of the heart and great vessels HP:0001608 | Abnormality of the voice HP:0007461 | Hemangiomatosis HP:0100761 | Visceral angiomatosis HP:0001643 | Patent ductus arteriosus HP:0000929 | Abnormality of the skull HP:0001622 | Premature birth HP:0002240 | Hepatomegaly HP:0001541 | Ascites HP:0001903 | Anemia HP:0001939 | Abnormality of metabolism/homeostasis HP:0001561 | Polyhydramnios |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) |
| Disease ID | 1482 |
|---|---|
| Disease | diffuse neonatal hemangiomatosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0677608 | placental chorioangioma |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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Text Mining Genotype(Total Genotypes:0) | |
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All Snps(Total Genotypes:0) | |
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GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001643 | Patent ductus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0001608 | Abnormality of the voice | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0001622 | Premature birth | MP:0009703 | decreased birth body size | reduction in average body size at birth compared to controls |
| HP:0001928 | Abnormality of coagulation | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0000142 | Abnormality of the vagina | MP:0004502 | decreased incidence of tumors by chemical induction | lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0001939 | Abnormality of metabolism/homeostasis | 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 |
Mapped by homologous gene(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001561 | Polyhydramnios | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001789 | Hydrops fetalis | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003072 | Hypercalcemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001622 | Premature birth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001608 | Abnormality of the voice | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0100761 | Visceral angiomatosis | 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:0000929 | Abnormality of the skull | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001928 | Abnormality of coagulation | 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:0000142 | Abnormality of the vagina | 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:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0008678 | Renal hypoplasia/aplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001643 | Patent ductus arteriosus | 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:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1482 |
|---|---|
| Disease | diffuse neonatal hemangiomatosis |
| Case | (Waiting for update.) |