PedAM
Pediatric Disease Annotations & Medicines
| fanconi anemia | ||||
| Disease ID | 13 |
|---|---|
| Disease | fanconi anemia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:106) HP:0000027 | Azoospermia HP:0002817 | Abnormality of the upper limb HP:0002823 | Abnormality of the femur HP:0007400 | Irregular hyperpigmentation HP:0000135 | Hypogonadism HP:0012639 | Abnormality of nervous system morphology HP:0000286 | Epicanthus HP:0001763 | Pes planus HP:0000347 | Micrognathia HP:0000504 | Abnormality of vision HP:0100867 | Duodenal stenosis HP:0000324 | Facial asymmetry HP:0003022 | Hypoplasia of the ulna HP:0002827 | Hip dislocation HP:0002245 | Meckel diverticulum HP:0001770 | Toe syndactyly HP:0002251 | Aganglionic megacolon HP:0007565 | Multiple cafe-au-lait spots HP:0002414 | Spina bifida HP:0000518 | Cataract HP:0001760 | Abnormality of the foot HP:0000639 | Nystagmus HP:0001646 | Abnormality of the aortic valve HP:0002119 | Ventriculomegaly HP:0002650 | Scoliosis HP:0000340 | Sloping forehead HP:0000252 | Microcephaly HP:0001249 | Intellectual disability HP:0008053 | Aplasia/Hypoplasia of the iris HP:0000218 | High palate HP:0000568 | Microphthalmia HP:0000492 | Abnormality of the eyelid HP:0001000 | Abnormality of skin pigmentation HP:0012041 | Decreased fertility in males HP:0005522 | Pyridoxine-responsive sideroblastic anemia HP:0000364 | Hearing abnormality HP:0006501 | Aplasia/Hypoplasia of the radius HP:0001263 | Global developmental delay HP:0001199 | Triphalangeal thumb HP:0004322 | Short stature HP:0006265 | Aplasia/Hypoplasia of fingers HP:0008678 | Renal hypoplasia/aplasia HP:0000813 | Bicornuate uterus HP:0000047 | Hypospadias HP:0002997 | Abnormality of the ulna HP:0004209 | Clinodactyly of the 5th finger HP:0002023 | Anal atresia HP:0000028 | Cryptorchidism HP:0006824 | Cranial nerve paralysis HP:0001643 | Patent ductus arteriosus HP:0004349 | Reduced bone mineral density HP:0012745 | Short palpebral fissure HP:0001639 | Hypertrophic cardiomyopathy HP:0001671 | Abnormality of the cardiac septa HP:0100542 | Abnormal localization of kidney HP:0001882 | Leukopenia HP:0010469 | Aplasia of the testes HP:0001636 | Tetralogy of Fallot HP:0006101 | Finger syndactyly HP:0001510 | Growth delay HP:0000079 | Abnormality of the urinary system HP:0000486 | Strabismus HP:0000508 | Ptosis HP:0000365 | Hearing impairment HP:0100026 | Arteriovenous malformation HP:0000505 | Visual impairment HP:0012210 | Abnormal renal morphology HP:0007874 | Almond-shaped palpebral fissure HP:0001873 | Thrombocytopenia HP:0000010 | Recurrent urinary tract infections HP:0001172 | Abnormality of the thumb HP:0001679 | Abnormality of the aorta HP:0005344 | Abnormality of the carotid arteries HP:0001347 | Hyperreflexia HP:0001903 | Anemia HP:0001511 | Intrauterine growth retardation HP:0000268 | Dolichocephaly HP:0010293 | Aplasia/Hypoplasia of the uvula HP:0001537 | Umbilical hernia HP:0000864 | Abnormality of the hypothalamus-pituitary axis HP:0000072 | Hydroureter HP:0000175 | Cleft palate HP:0000582 | Upslanted palpebral fissure HP:0100760 | Clubbing of toes HP:0100587 | Abnormality of the preputium HP:0001053 | Hypopigmented skin patches HP:0001824 | Weight loss HP:0000483 | Astigmatism HP:0001562 | Oligohydramnios HP:0000520 | Proptosis HP:0001631 | Atrial septal defect HP:0000238 | Hydrocephalus HP:0000083 | Renal insufficiency HP:0000478 | Abnormality of the eye HP:0001392 | Abnormality of the liver HP:0002664 | Neoplasm HP:0003220 | Abnormality of chromosome stability HP:0002007 | Frontal bossing HP:0000316 | Hypertelorism HP:0000453 | Choanal atresia HP:0008572 | External ear malformation HP:0002863 | Myelodysplasia HP:0002575 | Tracheoesophageal fistula HP:0001871 | Abnormality of blood and blood-forming tissues HP:0000035 | Abnormality of the testis HP:0000130 | Abnormality of the uterus |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:26) HP:0005528 | Bone marrow hypoplasia | 7 HP:0002860 | Squamous cell carcinoma | 2 HP:0012324 | Myeloid leukemia | 2 HP:0001876 | Low blood cell count | 2 HP:0002667 | Wilms tumor | 2 HP:0001909 | Leukemia | 2 HP:0002863 | Myelodysplastic syndrome | 2 HP:0004808 | Acute myelogenous leukemia | 2 HP:0006721 | Acute lymphocytic leukemia | 1 HP:0002885 | Medulloblastoma | 1 HP:0001873 | Low platelet count | 1 HP:0000252 | Small head circumference | 1 HP:0001510 | Growth deficiency | 1 HP:0002894 | Neoplasia of the pancreas | 1 HP:0001920 | Renal artery stenosis | 1 HP:0002664 | Neoplasia | 1 HP:0030731 | Carcinoma | 1 HP:0001000 | Pigmentary changes | 1 HP:0003468 | Vertebral anomalies | 1 HP:0001915 | Aplastic anemia | 1 HP:0001177 | Preaxial hand polydactyly | 1 HP:0010442 | Polydactyly | 1 HP:0002745 | Oral idiopathic leukoplakia | 1 HP:0003006 | Neuroblastoma | 1 HP:0000175 | Palatoschisis | 1 HP:0000488 | Noninflammatory retina disease | 1 |
| Disease ID | 13 |
|---|---|
| Disease | fanconi anemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:24) C2697453 | hepatic adenoma C2030367 | hematologic symptoms C1963137 | hydrocephalus C1512411 | hepatocellular carcinoma C1334820 | multifocal osteosarcoma C0856825 | acute graft-versus-host disease C0546837 | esophageal cancer C0456909 | vision loss C0343387 | neutropenic enterocolitis C0339590 | phacomorphic glaucoma C0085692 | hemorrhagic cystitis C0037285 | skin manifestations C0036690 | septicemia C0033027 | preleukemia C0030781 | peliosis hepatis C0030312 | bone marrow failure C0026986 | myelodysplastic syndrome C0021359 | infertility C0020302 | congenital glaucoma C0018133 | graft-versus-host disease C0018050 | gonadal dysfunction C0007137 | squamous cell carcinomas C0007137 | squamous cell carcinoma C0007131 | non-small cell lung cancer |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:13) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104886456 | NA | 2176 | FANCC | umls:C0015625 | CLINVAR | NA | 0.394728204 | NA | FANCC | 9 | 95172033 | T | A |
| rs11571707 | 19851859 | 675 | BRCA2 | umls:C0015625 | BeFree | A BRCA2 germline mutation (p.Ile2490Thr), previously reported in breast cancer and, as compound heterozygote, in Fanconi anemia, was identified in the 21-year-old patient diagnosed after pregnancy, negative for cancer family history. | 0.267359547 | 2010 | BRCA2 | 13 | 32356461 | T | C |
| rs121917783 | 20509860 | 2176 | FANCC | umls:C0015625 | BeFree | Accordingly, a homozygous inactivating FANCC nonsense mutation (c.553C > T, p.R185X) was identified in HuH-7, resulting in partial transcriptional skipping of exon 6 and leading to the classic cellular FA hypersensitivity phenotype; HuH-7 cells exhibited a strongly reduced proliferation rate and a pronounced G2 cell cycle arrest at distinctly lower concentrations of ICL-agents than a panel of non-isogenic, FA pathway-proficient HCC cell lines. | 0.394728204 | 2010 | FANCC | 9 | 95150056 | G | A |
| rs121917783 | 7746424 | 2176 | FANCC | umls:C0015625 | BeFree | Both are compound heterozygotes for the 322delG and R185X mutations in the FA complementation group C (FACC) gene. | 0.394728204 | 1995 | FANCC | 9 | 95150056 | G | A |
| rs121917783 | 20509860 | 284424 | MIR7-3HG | umls:C0015625 | BeFree | Accordingly, a homozygous inactivating FANCC nonsense mutation (c.553C > T, p.R185X) was identified in HuH-7, resulting in partial transcriptional skipping of exon 6 and leading to the classic cellular FA hypersensitivity phenotype; HuH-7 cells exhibited a strongly reduced proliferation rate and a pronounced G2 cell cycle arrest at distinctly lower concentrations of ICL-agents than a panel of non-isogenic, FA pathway-proficient HCC cell lines. | 0.000271442 | 2010 | FANCC | 9 | 95150056 | G | A |
| rs267606997 | 25154786 | 5889 | RAD51C | umls:C0015625 | BeFree | The RAD51C missense mutation p.Arg258His has previously been identified in a homozygous state in a patient with Fanconi anemia. | 0.243800186 | 2015 | RAD51C | 17 | 58709926 | G | A |
| rs756367276 | NA | 2175 | FANCA | umls:C0015625 | CLINVAR | NA | 0.392255432 | NA | FANCA | 16 | 89761961 | - | A |
| rs780825099 | NA | 2175 | FANCA | umls:C0015625 | CLINVAR | NA | 0.392255432 | NA | FANCA | 16 | 89765062 | T | G |
| rs786204204 | NA | 2175 | FANCA | umls:C0015625 | CLINVAR | NA | 0.392255432 | NA | FANCA | 16 | 89814517 | T | G |
| rs786204205 | NA | 2189 | FANCG | umls:C0015625 | CLINVAR | NA | 0.372777631 | NA | FANCG;VCP | 9 | 35074384 | C | A |
| rs786204238 | NA | 2175 | FANCA | umls:C0015625 | CLINVAR | NA | 0.392255432 | NA | FANCA;SPIRE2 | 16 | 89815969 | C | - |
| rs786204246 | NA | 2175 | FANCA | umls:C0015625 | CLINVAR | NA | 0.392255432 | NA | FANCA | 16 | 89746834 | GAA | - |
| rs80358638 | 14559878 | 675 | BRCA2 | umls:C0015625 | BeFree | Two other kindreds each contained a Fanconi anemia-afflicted child who developed medulloblastoma; one child was of Latin American ancestry and a compound heterozygote for BRCA2*I2490T/ 5301insA and the other was African American and a compound heterozygote for BRCA2*Q3066X/E1308X. | 0.267359547 | 2003 | BRCA2 | 13 | 32338277 | G | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000010 | Recurrent urinary tract infections | MP:0003617 | urinary bladder hypoplasia;HP:0002860 | Squamous cell carcinoma |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000010 | Recurrent urinary tract infections | MP:0003257 | abnormal abdominal wall morphology;HP:0004322 | Short stature |
Chemical(Total Drugs:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0015625 | glutathione | D005978 | 70-18-8 | fanconi anemia | MESH:D005199 | marker/mechanism | 22628295 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |