eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fetal alcohol syndrome | ||||
| Disease ID | 272 |
|---|---|
| Disease | fetal alcohol syndrome |
| Definition | disorder occurring in children born to alcoholic women who continue to drink heavily during pregnancy; common abnormalities are growth deficiency (prenatal and postnatal), altered morphogenesis, mental deficiency, and characteristic facies - small eyes and flattened nasal bridge; fine motor dysfunction and tremulousness are observed in the newborn. |
| Synonym | alcohol fetal syndrome arbd fae fas - fetal alcohol syndrome fas - foetal alcohol syndrome fasd fetal alcohol effect fetal alcohol effects fetal alcohol spectrum disorders fetal alcohol spectrum disorders [disease/finding] fetal alcohol syndrome (disorder) fetal alcohol syndrome (fas) foetal alcohol syndrome syndrome, fetal alcohol |
| Orphanet | |
| DOID | |
| UMLS | C0015923 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0025362 | mental retardation | 2 C0679466 | cognitive deficits | 2 C0851578 | sleep disorders | 1 C0017168 | esophageal reflux | 1 C0011570 | depression | 1 C0017168 | gastrooesophageal reflux disease | 1 C0037317 | sleep disturbances | 1 C0037317 | sleep disturbance | 1 C0017168 | oesophageal reflux | 1 C0017168 | gastrooesophageal reflux | 1 C0017168 | esophageal reflux disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:87) 55331 | ACER3 | 2.3 | DISEASES 130 | ADH6 | 3.266 | DISEASES 131 | ADH7 | 3.325 | DISEASES 23394 | ADNP | 3.214 | DISEASES 64400 | AKTIP | 1.086 | DISEASES 257 | ALX3 | 1.251 | DISEASES 444 | ASPH | 1.315 | DISEASES 522 | ATP5J | 1.598 | DISEASES 627 | BDNF | 2.545 | DISEASES 51297 | BPIFA1 | 1.533 | DISEASES 10658 | CELF1 | 1.572 | DISEASES 10659 | CELF2 | 2.106 | DISEASES 1103 | CHAT | 1.85 | DISEASES 1267 | CNP | 1.808 | DISEASES 1385 | CREB1 | 1.299 | DISEASES 1443 | CSH2 | 2.684 | DISEASES 1786 | DNMT1 | 1.027 | DISEASES 1859 | DYRK1A | 1.004 | DISEASES 124454 | EARS2 | 1.703 | DISEASES 1879 | EBF1 | 1.226 | DISEASES 1893 | ECM1 | 1.344 | DISEASES 2202 | EFEMP1 | 1.286 | DISEASES 54583 | EGLN1 | 1.071 | DISEASES 10919 | EHMT2 | 1.247 | DISEASES 54821 | ERCC6L | 1.989 | DISEASES 2173 | FABP7 | 1.542 | DISEASES 100302740 | FAS-AS1 | 2.096 | DISEASES 2263 | FGFR2 | 1.05 | DISEASES 8325 | FZD8 | 1.976 | DISEASES 2571 | GAD1 | 2.147 | DISEASES 9573 | GDF3 | 1.821 | DISEASES 728441 | GGT2 | 1.57 | DISEASES 2762 | GMDS | 1.991 | DISEASES 10243 | GPHN | 1.53 | DISEASES 2902 | GRIN1 | 2.005 | DISEASES 2903 | GRIN2A | 3.246 | DISEASES 3481 | IGF2 | 2.667 | DISEASES 54617 | INO80 | 2.42 | DISEASES 10984 | KCNQ1OT1 | 1.497 | DISEASES 23081 | KDM4C | 1.861 | DISEASES 26468 | LHX6 | 2.404 | DISEASES 9053 | MAP7 | 1.173 | DISEASES 4155 | MBP | 1.162 | DISEASES 4204 | MECP2 | 1.059 | DISEASES 222236 | NAPEPLD | 2.051 | DISEASES 26151 | NAT9 | 1.929 | DISEASES 4688 | NCF2 | 1.235 | DISEASES 4692 | NDN | 1.273 | DISEASES 10763 | NES | 1.963 | DISEASES 4782 | NFIC | 2.162 | DISEASES 4803 | NGF | 2.541 | DISEASES 4857 | NOVA1 | 2.134 | DISEASES 10811 | NOXA1 | 2.665 | DISEASES 124056 | NOXO1 | 2.408 | DISEASES 594857 | NPS | 1.184 | DISEASES 4914 | NTRK1 | 1.163 | DISEASES 4916 | NTRK3 | 1.671 | DISEASES 4952 | OCRL | 1.303 | DISEASES 5074 | PAWR | 1.573 | DISEASES 5080 | PAX6 | 1.807 | DISEASES 9124 | PDLIM1 | 1.184 | DISEASES 5178 | PEG3 | 1.782 | DISEASES 5179 | PENK | 1.021 | DISEASES 5228 | PGF | 1.508 | DISEASES 11128 | POLR3A | 1.611 | DISEASES 5592 | PRKG1 | 2.071 | DISEASES 5727 | PTCH1 | 1.606 | DISEASES 2889 | RAPGEF1 | 1.266 | DISEASES 5915 | RARB | 1.195 | DISEASES 1827 | RCAN1 | 1.304 | DISEASES 387 | RHOA | 1.334 | DISEASES 57142 | RTN4 | 1.912 | DISEASES 6257 | RXRB | 2.077 | DISEASES 6334 | SCN8A | 1.282 | DISEASES 166929 | SGMS2 | 2.638 | DISEASES 8671 | SLC4A4 | 1.043 | DISEASES 9498 | SLC4A8 | 1.37 | DISEASES 6649 | SOD3 | 1.061 | DISEASES 6711 | SPTBN1 | 3.003 | DISEASES 51684 | SUFU | 1.253 | DISEASES 7018 | TF | 2.092 | DISEASES 8742 | TNFSF12 | 1.866 | DISEASES 7267 | TTC3 | 2.608 | DISEASES 56995 | TULP4 | 2.951 | DISEASES 57216 | VANGL2 | 1.556 | DISEASES 7432 | VIP | 2.59 | DISEASES 157680 | VPS13B | 1.305 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 272 |
|---|---|
| Disease | fetal alcohol syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:32) HP:0001263 | Global developmental delay HP:0010978 | Abnormality of immune system physiology HP:0000568 | Microphthalmia HP:0003196 | Short nose HP:0004322 | Short stature HP:0100543 | Cognitive impairment HP:0007477 | Abnormal dermatoglyphics HP:0001631 | Atrial septal defect HP:0000508 | Ptosis HP:0000347 | Micrognathia HP:0000506 | Telecanthus HP:0000486 | Strabismus HP:0001511 | Intrauterine growth retardation HP:0100335 | Non-midline cleft lip HP:0000708 | Behavioral abnormality HP:0000286 | Epicanthus HP:0000175 | Cleft palate HP:0000275 | Narrow face HP:0000252 | Microcephaly HP:0000319 | Smooth philtrum HP:0100761 | Visceral angiomatosis HP:0002230 | Generalized hirsutism HP:0001249 | Intellectual disability HP:0000691 | Microdontia HP:0003422 | Vertebral segmentation defect HP:0000219 | Thin upper lip vermilion HP:0001387 | Joint stiffness HP:0000463 | Anteverted nares HP:0004422 | Biparietal narrowing HP:0001328 | Specific learning disability HP:0000368 | Low-set, posteriorly rotated ears HP:0000776 | Congenital diaphragmatic hernia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:18) HP:0001249 | Mental retardation | 3 HP:0012378 | Fatigue | 3 HP:0001250 | Seizures | 2 HP:0100543 | Cognitive deficits | 2 HP:0000716 | Depression | 1 HP:0000708 | Behavioral problems | 1 HP:0100710 | Impulsivity | 1 HP:0002463 | Language impairment | 1 HP:0001627 | Congenital heart defects | 1 HP:0000998 | Hypertrichosis | 1 HP:0001317 | Abnormality of the cerebellum | 1 HP:0001510 | Growth deficiency | 1 HP:0007018 | Attention deficits | 1 HP:0012433 | Abnormal social behaviour | 1 HP:0002126 | Polymicrogyria | 1 HP:0002360 | Sleep disturbance | 1 HP:0001321 | Small cerebellum | 1 HP:0002354 | Memory loss | 1 |
| Disease ID | 272 |
|---|---|
| Disease | fetal alcohol syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:13) C0850497 | immune deficiency C0796095 | c syndrome C0752303 | urological manifestations C0239946 | hepatic fibrosis C0152439 | retinoschisis C0151747 | renal tubular dysfunction C0034194 | pyloric stenosis C0029166 | oral manifestations C0025958 | microcephaly C0021847 | intestinal pseudoobstruction C0015411 | eye manifestations C0008445 | stippled epiphyses C0004352 | autism |
| 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:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1800477 | 17561354 | 355 | FAS | umls:C0015923 | BeFree | Role of BCL2 (ala43thr), CCND1 (G870A) and FAS (A-670G) polymorphisms in modulating the risk of developing esophageal cancer. | 0.003800186 | 2007 | BCL2 | 18 | 63318540 | C | T |
| rs3218619 | 17561354 | 355 | FAS | umls:C0015923 | BeFree | Role of BCL2 (ala43thr), CCND1 (G870A) and FAS (A-670G) polymorphisms in modulating the risk of developing esophageal cancer. | 0.003800186 | 2007 | FAS;LOC105378417 | 10 | 89003044 | G | A |
| rs3218619 | 17912028 | 355 | FAS | umls:C0015923 | BeFree | Genotyping of BCL2 (ala43thr), FAS (A-670G), CCND1 (G870A), EGF (+61A/G) and EGFR (G497A) polymorphisms were determined using the polymerase chain reaction followed by restriction fragment length polymorphism methodology. | 0.003800186 | 2007 | FAS;LOC105378417 | 10 | 89003044 | G | A |
| rs370426812 | 17912028 | 355 | FAS | umls:C0015923 | BeFree | Genotyping of BCL2 (ala43thr), FAS (A-670G), CCND1 (G870A), EGF (+61A/G) and EGFR (G497A) polymorphisms were determined using the polymerase chain reaction followed by restriction fragment length polymorphism methodology. | 0.003800186 | 2007 | FAS | 10 | 89014312 | G | A |
| rs370426812 | 17561354 | 355 | FAS | umls:C0015923 | BeFree | Role of BCL2 (ala43thr), CCND1 (G870A) and FAS (A-670G) polymorphisms in modulating the risk of developing esophageal cancer. | 0.003800186 | 2007 | FAS | 10 | 89014312 | 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:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001328 | Specific learning disability | MP:0002802 | abnormal discrimination learning | anomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| 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:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0000776 | Congenital diaphragmatic hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0003196 | Short nose | MP:0002233 | abnormal nose morphology | any structural anomaly of the organ that is specialized for smell and is part of the respiratory system |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0000219 | Thin upper lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0001631 | Atria septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0010978 | Abnormality of immune system physiology | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0003422 | Vertebral segmentation defect | MP:0010412 | atrioventricular septal defect | defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partia |
| HP:0100335 | Non-midline cleft lip | MP:0008797 | facial cleft | a cleft resulting from incomplete merging or fusion of any of the embryonic facial processes that normally unite to form the face |
Mapped by homologous gene(Total Items:32) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000319 | Smooth philtrum | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0000219 | Thin upper lip vermilion | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003422 | Vertebral segmentation defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000275 | Narrow face | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000486 | Strabismus | 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:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000463 | Anteverted nares | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003196 | Short nose | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0004322 | Short stature | 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:0000506 | Telecanthus | 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:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0007477 | Abnormal dermatoglyphics | 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:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000776 | Congenital diaphragmatic hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0002230 | Generalized hirsutism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001328 | Specific learning disability | 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:0001263 | Global developmental delay | 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:0000568 | Microphthalmia | 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:0000175 | Cleft palate | 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: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:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000691 | Microdontia | 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:0004422 | Biparietal narrowing | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0000368 | Low-set, posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010978 | Abnormality of immune system physiology | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000252 | Microcephaly | 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:0100335 | Non-midline cleft lip | MP:0014051 | abnormal maxillary-premaxillary suture morphology | any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla) |
| Disease ID | 272 |
|---|---|
| Disease | fetal alcohol syndrome |
| Case | (Waiting for update.) |