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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   hellp syndrome
  

Disease ID 950
Disease hellp syndrome
Definition
A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in pregnant women with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION.
Synonym
haemolysis-elevated liver enzymes-low platelet count syndrome
hellp
hellp - syndrome of haemolysis, elevated liver enzymes and low platelet
hellp - syndrome of hemolysis, elevated liver enzymes and low platelet
hellp syndrome (disorder)
hellp syndrome (hemolysis, elevated liver enzymes, low platelets)
hellp syndrome [disease/finding]
hemolysis, elevated liver enzymes, and low platelet count
hemolysis, elevated liver enzymes, lowered platelets
hemolysis-elevated liver enzymes-low platelet count syndrome
hemolysis-elevated liver enzymes-low platelet count syndrome (disorder)
syndrome hellp
syndrome of haemolysis, elevated liver enzymes and low platelet
syndrome of haemolysis, elevated liver enzymes and low platelet (disorder)
syndrome of hemolysis, elevated liver enzymes and low platelet
syndrome, hellp
DOID
UMLS
C0162739
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:31)
C0032914  |  preeclampsia  |  17
C0013537  |  eclampsia  |  17
C0035078  |  renal failure  |  3
C0035305  |  retinal detachment  |  3
C0341950  |  severe pre-eclampsia  |  3
C0020538  |  hypertension  |  3
C0020538  |  hypertensive disorder  |  2
C0012739  |  disseminated intravascular coagulation  |  2
C0085278  |  antiphospholipid syndrome  |  2
C0011847  |  diabetes  |  2
C0022660  |  acute renal failure  |  2
C0085207  |  gestational diabetes  |  2
C0023895  |  liver disorder  |  1
C0023895  |  liver disorders  |  1
C0008370  |  cholestasis  |  1
C0035309  |  retinopathy  |  1
C0235250  |  hyperemesis  |  1
C0020450  |  hyperemesis gravidarum  |  1
C0028866  |  third nerve palsy  |  1
C0030326  |  panniculitis  |  1
C0043117  |  idiopathic thrombocytopenic purpura  |  1
C0019202  |  wilson's disease  |  1
C0155765  |  microangiopathy  |  1
C0011848  |  diabetes insipidus  |  1
C0043117  |  idiopathic thrombocytopenic purpura (itp)  |  1
C0034150  |  purpura  |  1
C0043117  |  immune thrombocytopenic purpura  |  1
C0398623  |  hypercoagulability  |  1
C0032001  |  pituitary apoplexy  |  1
C0013418  |  abnormal labor  |  1
C0000832  |  placental abruption  |  1
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:7)
355  |  FAS  |  CIPHER
3030  |  HADHA  |  CIPHER
3953  |  LEPR  |  CIPHER
4524  |  MTHFR  |  CIPHER
2908  |  NR3C1  |  CIPHER
5054  |  SERPINE1  |  CIPHER
7422  |  VEGFA  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:64)
37  |  ACADVL  |  1.206  |  DISEASES
8038  |  ADAM12  |  2.707  |  DISEASES
11093  |  ADAMTS13  |  3.673  |  DISEASES
174  |  AFP  |  1.375  |  DISEASES
196527  |  ANO6  |  1.255  |  DISEASES
1028  |  CDKN1C  |  1.495  |  DISEASES
629  |  CFB  |  1.633  |  DISEASES
3075  |  CFH  |  1.487  |  DISEASES
10878  |  CFHR3  |  1.556  |  DISEASES
3426  |  CFI  |  1.979  |  DISEASES
94027  |  CGB7  |  1.682  |  DISEASES
94115  |  CGB8  |  1.586  |  DISEASES
1308  |  COL17A1  |  1.473  |  DISEASES
1325  |  CORT  |  1.934  |  DISEASES
1376  |  CPT2  |  1.175  |  DISEASES
8804  |  CREG1  |  1.685  |  DISEASES
115908  |  CTHRC1  |  1.725  |  DISEASES
29119  |  CTNNA3  |  1.567  |  DISEASES
10072  |  DPP3  |  2.568  |  DISEASES
285193  |  DUSP28  |  2.349  |  DISEASES
1906  |  EDN1  |  1.91  |  DISEASES
2022  |  ENG  |  2.753  |  DISEASES
30816  |  ERVW-1  |  1.024  |  DISEASES
2152  |  F3  |  2.554  |  DISEASES
2153  |  F5  |  2.417  |  DISEASES
2157  |  F8  |  1.462  |  DISEASES
26190  |  FBXW2  |  1.483  |  DISEASES
2268  |  FGR  |  1.235  |  DISEASES
2805  |  GOT1  |  1.79  |  DISEASES
2875  |  GPT  |  1.434  |  DISEASES
2938  |  GSTA1  |  2.071  |  DISEASES
2950  |  GSTP1  |  1.312  |  DISEASES
3033  |  HADH  |  2.628  |  DISEASES
3030  |  HADHA  |  6.643  |  DISEASES
3032  |  HADHB  |  2.584  |  DISEASES
101101692  |  HELLPAR  |  4.605  |  DISEASES
3133  |  HLA-E  |  2.089  |  DISEASES
3240  |  HP  |  4.214  |  DISEASES
3586  |  IL10  |  1.031  |  DISEASES
3821  |  KLRC1  |  1.104  |  DISEASES
3822  |  KLRC2  |  1.627  |  DISEASES
4065  |  LY75  |  1.339  |  DISEASES
4318  |  MMP9  |  1.31  |  DISEASES
4524  |  MTHFR  |  3.007  |  DISEASES
5069  |  PAPPA  |  2.655  |  DISEASES
60676  |  PAPPA2  |  3.38  |  DISEASES
55742  |  PARVA  |  1.81  |  DISEASES
5094  |  PCBP2  |  1.959  |  DISEASES
5228  |  PGF  |  4.306  |  DISEASES
5251  |  PHEX  |  1.078  |  DISEASES
5367  |  PMCH  |  1.339  |  DISEASES
135250  |  RAET1E  |  1.555  |  DISEASES
6129  |  RPL7  |  2.249  |  DISEASES
6401  |  SELE  |  1.477  |  DISEASES
462  |  SERPINC1  |  4.258  |  DISEASES
5270  |  SERPINE2  |  1.207  |  DISEASES
5345  |  SERPINF2  |  1.124  |  DISEASES
9467  |  SH3BP5  |  1.225  |  DISEASES
946  |  SIGLEC6  |  3.001  |  DISEASES
6888  |  TALDO1  |  1.418  |  DISEASES
7056  |  THBD  |  2.102  |  DISEASES
7124  |  TNF  |  1.842  |  DISEASES
7422  |  VEGFA  |  1.168  |  DISEASES
25937  |  WWTR1  |  1.343  |  DISEASES
Locus
Symbol | Locus(Total Locus:4)
CD46  |  1q32.2
CFH  |  1q31.3
HELLPAR  |  12q23.2
CFI  |  4q25
Disease ID 950
Disease hellp syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:27)
HP:0100602  |  Pre-eclampsia  |  14
HP:0100601  |  Eclampsia  |  14
HP:0001397  |  Hepatic steatosis  |  4
HP:0006573  |  Acute fatty liver  |  4
HP:0000822  |  Hypertension  |  3
HP:0000083  |  Renal insufficiency  |  3
HP:0000541  |  Detached retina  |  3
HP:0001298  |  Encephalopathy  |  2
HP:0002910  |  Elevated transaminases  |  2
HP:0009800  |  gestational diabetes  |  2
HP:0001410  |  Decreased liver function  |  2
HP:0012231  |  Exudative retinal detachment  |  2
HP:0100603  |  Toxemia of pregnancy  |  1
HP:0000873  |  Diabetes insipidus  |  1
HP:0005521  |  Disseminated intravascular coagulation  |  1
HP:0001981  |  Schistocytosis  |  1
HP:0001919  |  Acute renal failure  |  1
HP:0100724  |  Hypercoagulability  |  1
HP:0001342  |  Intracerebral hemorrhage  |  1
HP:0012188  |  Hyperemesis gravidarum  |  1
HP:0000952  |  Yellow skin  |  1
HP:0001873  |  Low platelet count  |  1
HP:0000488  |  Noninflammatory retina disease  |  1
HP:0012490  |  Inflammation of fat tissue  |  1
HP:0001541  |  Ascites  |  1
HP:0001396  |  Cholestasis  |  1
HP:0000979  |  Purpura  |  1
Disease ID 950
Disease hellp syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:22)
C2717961  |  thrombotic microangiopathy
C1962966  |  retinopathy
C1962958  |  hematoma
C1565662  |  acute renal insufficiency
C1504439  |  reversible posterior leukoencephalopathy syndrome
C1366535  |  diabetes insipidus
C0473120  |  peritoneal hematoma
C0409980  |  primary antiphospholipid syndrome
C0347630  |  liver hematoma
C0347630  |  hepatic hematoma
C0340708  |  deep vein thrombosis
C0268379  |  pseudocholinesterase deficiency
C0235574  |  intravascular hemolysis
C0232492  |  upper abdominal pain
C0221238  |  mesangial proliferative glomerulonephritis
C0085616  |  vasospasm
C0085278  |  antiphospholipid syndrome
C0031190  |  fetal circulation
C0022660  |  acute renal failure
C0020615  |  hypoglycemia
C0019080  |  hemorrhage
C0011854  |  type 1 diabetes
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:8)
C0018944  |  hematoma  |  8
C0347630  |  liver hematoma  |  4
C0085278  |  antiphospholipid syndrome  |  2
C0347630  |  hepatic hematoma  |  1
C0022660  |  acute renal failure  |  1
C0019080  |  hemorrhage  |  1
C0035309  |  retinopathy  |  1
C0011848  |  diabetes insipidus  |  1
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:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 950
Disease hellp syndrome
Case(Waiting for update.)