eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| placental insufficiency | ||||
| Disease ID | 1281 |
|---|---|
| Disease | placental insufficiency |
| Definition | Failure of the PLACENTA to deliver an adequate supply of nutrients and OXYGEN to the FETUS. |
| Synonym | insufficiency placental insufficiency, placental placental insuffic. placental insufficiency (disorder) placental insufficiency [disease/finding] |
| Orphanet | |
| DOID | |
| UMLS | C0032051 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0020538 | hypertension | 4 C0032914 | preeclampsia | 4 C0028754 | obesity | 2 C0011847 | diabetes | 2 C0040053 | thrombosis | 1 C0015958 | twin transfusion syndrome | 1 C0024530 | malaria | 1 C0020598 | hypoglycemia | 1 C0022116 | ischemia | 1 C0020456 | hyperglycemia | 1 C0015958 | twin-twin transfusion syndrome | 1 C0340274 | gestational hypertension | 1 C0162429 | undernutrition | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:83) 174 | AFP | 1.974 | DISEASES 199 | AIF1 | 1.126 | DISEASES 430 | ASCL2 | 2.686 | DISEASES 444 | ASPH | 1.096 | DISEASES 627 | BDNF | 1.841 | DISEASES 54796 | BNC2 | 2.042 | DISEASES 6046 | BRD2 | 1.204 | DISEASES 1028 | CDKN1C | 1.323 | DISEASES 4435 | CITED1 | 2.639 | DISEASES 4850 | CNOT4 | 1.336 | DISEASES 1443 | CSH2 | 4.98 | DISEASES 1635 | DCTD | 1.927 | DISEASES 1747 | DLX3 | 2.62 | DISEASES 55466 | DNAJA4 | 2.655 | DISEASES 1906 | EDN1 | 1.937 | DISEASES 133584 | EGFLAM | 2.168 | DISEASES 2013 | EMP2 | 1.731 | DISEASES 2066 | ERBB4 | 1.07 | DISEASES 80712 | ESX1 | 2.393 | DISEASES 2152 | F3 | 1.477 | DISEASES 2268 | FGR | 2.111 | DISEASES 2317 | FLNB | 3.174 | DISEASES 23767 | FLRT3 | 2.448 | DISEASES 2517 | FUCA1 | 2.66 | DISEASES 2887 | GRB10 | 1.362 | DISEASES 9563 | H6PD | 1.314 | DISEASES 3142 | HLX | 1.891 | DISEASES 3201 | HOXA4 | 1.926 | DISEASES 3231 | HOXD1 | 2.337 | DISEASES 3293 | HSD17B3 | 1.642 | DISEASES 3284 | HSD3B2 | 1.327 | DISEASES 3481 | IGF2 | 2.699 | DISEASES 3482 | IGF2R | 2.59 | DISEASES 3321 | IGSF3 | 1.908 | DISEASES 9452 | ITM2A | 2.65 | DISEASES 102723508 | KANTR | 1.118 | DISEASES 3916 | LAMP1 | 1.281 | DISEASES 10046 | MAMLD1 | 1.607 | DISEASES 4146 | MATN1 | 1.448 | DISEASES 4539 | MT-ND4L | 2.019 | DISEASES 4558 | MT-TF | 2.12 | DISEASES 4692 | NDN | 1.054 | DISEASES 4897 | NRCAM | 1.254 | DISEASES 10215 | OLIG2 | 1.667 | DISEASES 5069 | PAPPA | 3.226 | DISEASES 60676 | PAPPA2 | 2.25 | DISEASES 5178 | PEG3 | 1.474 | DISEASES 5209 | PFKFB3 | 1.277 | DISEASES 5228 | PGF | 3.255 | DISEASES 5294 | PIK3CG | 1.561 | DISEASES 8544 | PIR | 1.065 | DISEASES 10761 | PLAC1 | 1.878 | DISEASES 5562 | PRKAA1 | 2.509 | DISEASES 5563 | PRKAA2 | 1.844 | DISEASES 5744 | PTHLH | 1.228 | DISEASES 137902 | PXDNL | 2.911 | DISEASES 5768 | QSOX1 | 1.917 | DISEASES 146713 | RBFOX3 | 1.974 | DISEASES 64783 | RBM15 | 1.569 | DISEASES 1102 | RCBTB2 | 2.328 | DISEASES 7732 | RNF112 | 1.342 | DISEASES 6906 | SERPINA7 | 1.535 | DISEASES 292 | SLC25A5 | 1.585 | DISEASES 6513 | SLC2A1 | 1.932 | DISEASES 144195 | SLC2A14 | 1.591 | DISEASES 29988 | SLC2A8 | 2.985 | DISEASES 81539 | SLC38A1 | 3.368 | DISEASES 6533 | SLC6A6 | 1.464 | DISEASES 9021 | SOCS3 | 1.236 | DISEASES 9306 | SOCS6 | 1.573 | DISEASES 30837 | SOCS7 | 1.801 | DISEASES 7010 | TEK | 2.297 | DISEASES 7054 | TH | 1.196 | DISEASES 51643 | TMBIM4 | 1.455 | DISEASES 7139 | TNNT2 | 1.01 | DISEASES 7106 | TSPAN4 | 1.509 | DISEASES 7258 | TSPY1 | 1.365 | DISEASES 100289087 | TSPY10 | 1.401 | DISEASES 80328 | ULBP2 | 1.468 | DISEASES 7422 | VEGFA | 2.366 | DISEASES 79001 | VKORC1 | 1.087 | DISEASES 23038 | WDTC1 | 1.694 | DISEASES 91975 | ZNF300 | 2.925 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1281 |
|---|---|
| Disease | placental insufficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:20) HP:0012418 | Hypoxemia HP:0003508 | Proportionate short stature HP:0000717 | Autism HP:0100601 | Eclampsia HP:0000729 | Autistic behavior HP:0003613 | Antiphospholipid antibody positivity HP:0001627 | Abnormal heart morphology HP:0006266 | Small placenta HP:0001518 | Small for gestational age HP:0012759 | Neurodevelopmental abnormality HP:0000855 | Insulin resistance HP:0002088 | Abnormality of lung morphology HP:0005268 | Spontaneous abortion HP:0100021 | Cerebral palsy HP:0100602 | Preeclampsia HP:0001511 | Intrauterine growth retardation HP:0008071 | Maternal hypertension HP:0002725 | Systemic lupus erythematosus HP:0011403 | Abnormal umbilical cord blood vessels HP:0100767 | Abnormality of the placenta |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0001511 | Prenatal onset growth retardation | 30 HP:0001510 | Growth deficiency | 5 HP:0000822 | Hypertension | 4 HP:0012418 | Low blood oxygen level | 3 HP:0100602 | Pre-eclampsia | 3 HP:0001513 | Obesity | 2 HP:0001622 | Premature delivery | 2 HP:0003074 | High blood glucose | 1 HP:0012417 | Hypocapnia | 1 HP:0001945 | Fever | 1 HP:0001518 | Small for gestational age | 1 HP:0001943 | Hypoglycemia | 1 |
| Disease ID | 1281 |
|---|---|
| Disease | placental insufficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| 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:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002725 | Systemic lupus erythematosus | MP:0004801 | increased susceptibility to systemic lupus erythematosus | greater likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs |
| HP:0000729 | Autistic behavior | MP:0009848 | increased horizontal stereotypic behavior | increase in the frequency of repetitive rearings (greater than one per second) |
| HP:0001627 | Abnormal heart morphology | MP:0004251 | failure of heart looping | failure of the primitive heart tube to loop asymmetrically during early development |
| HP:0008071 | Maternal hypertension | MP:0004217 | salt-sensitive hypertension | sustained high blood pressure that is maintained with a normal or increase in the amount of salt consumed in the diet; blood pressure may return to normotensive with a low salt diet |
| HP:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0000855 | Insulin resistance | MP:0010935 | increased airway resistance | greater opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow |
| HP:0003613 | Antiphospholipid antibody positivity | MP:0004762 | increased anti-double stranded DNA antibody level | increase in the level of antibodies that recognize double stranded DNA |
| HP:0001518 | Small for gestational age | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0003508 | Proportionate short stature | MP:0004708 | short lumbar vertebrae | reduced length of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae |
Mapped by homologous gene(Total Items:16) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100601 | Eclampsia | MP:0006144 | increased systemic arterial systolic blood pressure | abnormal increase in the pressure in the arteries as the heart contracts and pumps blood into the arteries |
| HP:0100021 | Cerebral palsy | MP:0013026 | decreased Ly6C low monocyte number | decrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes |
| HP:0000855 | Insulin resistance | 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:0008071 | Maternal hypertension | MP:0011442 | abnormal renal sodium ion transport | any anomaly in the directed movement of sodium ions (Na+) by the kidney |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003508 | Proportionate short stature | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| HP:0001627 | Abnormal heart morphology | MP:0012159 | absent anterior visceral endoderm | absence of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue |
| HP:0003613 | Antiphospholipid antibody positivity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001518 | Small for gestational age | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002725 | Systemic lupus erythematosus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000717 | Autism | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0006266 | Small placenta | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0100602 | Preeclampsia | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000729 | Autistic behavior | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0012418 | Hypoxemia | MP:0012549 | hypoxemia | subnormal arterial oxygen tension; deficient oxygenation of arterial blood |
| HP:0005268 | Spontaneous abortion | MP:0020040 | decreased bone ossification | decrease 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 |
| Disease ID | 1281 |
|---|---|
| Disease | placental insufficiency |
| Case | (Waiting for update.) |