eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| sotos syndrome | ||||
| Disease ID | 237 |
|---|---|
| Disease | sotos syndrome |
| Definition | A rare genetic syndrome caused by mutations in the NSD1 gene. It is characterized by excessive physical growth early in life, mild mental retardation, and delayed cognitive and social development. Children affected by this syndrome are tall with larger than normal heads. |
| Synonym | cerebral giant cerebral gigantism cerebral gigantism syndrome cerebral gigantisms chromosome 5q35 deletion syndrome gigantism, cerebral gigantisms, cerebral sequence, sotos soto syndrome soto's syndrome sotos sequence sotos syndrome 1 sotos syndrome [disease/finding] sotos' syndrome sotos' syndrome (disorder) sotos1 syndrome cerebral gigantism syndrome, sotos syndrome, sotos' |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0175695 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0020437 | hypercalcemia | 1 C0040100 | thymoma | 1 C1960469 | left ventricular noncompaction | 1 C0032326 | pneumothorax | 1 C0020459 | hyperinsulinism | 1 C0014544 | epilepsy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:49) 6833 | ABCC8 | 2.185 | DISEASES 171023 | ASXL1 | 1.223 | DISEASES 55636 | CHD7 | 1.392 | DISEASES 10675 | CSPG5 | 2.339 | DISEASES 1812 | DRD1 | 1.574 | DISEASES 2159 | F10 | 1.039 | DISEASES 8822 | FGF17 | 2.542 | DISEASES 2332 | FMR1 | 1.874 | DISEASES 2719 | GPC3 | 1.807 | DISEASES 3033 | HADH | 1.602 | DISEASES 8359 | HIST1H4A | 1.308 | DISEASES 8366 | HIST1H4B | 1.308 | DISEASES 8364 | HIST1H4C | 1.308 | DISEASES 8360 | HIST1H4D | 1.307 | DISEASES 8367 | HIST1H4E | 1.308 | DISEASES 8361 | HIST1H4F | 1.308 | DISEASES 8294 | HIST1H4I | 1.308 | DISEASES 8363 | HIST1H4J | 1.308 | DISEASES 8362 | HIST1H4K | 1.308 | DISEASES 8368 | HIST1H4L | 1.308 | DISEASES 8370 | HIST2H4A | 1.308 | DISEASES 554313 | HIST2H4B | 1.308 | DISEASES 121504 | HIST4H4 | 1.308 | DISEASES 84525 | HOPX | 2.004 | DISEASES 3481 | IGF2 | 1.868 | DISEASES 3483 | IGFALS | 2.608 | DISEASES 3486 | IGFBP3 | 1.64 | DISEASES 26280 | IL1RAPL2 | 3.274 | DISEASES 3767 | KCNJ11 | 1.827 | DISEASES 3768 | KCNJ12 | 1.161 | DISEASES 4784 | NFIX | 5.195 | DISEASES 1482 | NKX2-5 | 2.104 | DISEASES 64067 | NPAS3 | 2.664 | DISEASES 203447 | NRK | 3.979 | DISEASES 64324 | NSD1 | 8.375 | DISEASES 4908 | NTF3 | 1.217 | DISEASES 54681 | P4HTM | 2.212 | DISEASES 84898 | PLXDC2 | 3.134 | DISEASES 5578 | PRKCA | 1.571 | DISEASES 84282 | RNF135 | 3.223 | DISEASES 29072 | SETD2 | 2.355 | DISEASES 6566 | SLC16A1 | 1.614 | DISEASES 26503 | SLC17A5 | 3.335 | DISEASES 6569 | SLC34A1 | 2.193 | DISEASES 7247 | TSN | 2.17 | DISEASES 157680 | VPS13B | 2.693 | DISEASES 677 | ZFP36L1 | 2.869 | DISEASES 7586 | ZKSCAN1 | 2.887 | DISEASES 152485 | ZNF827 | 2.364 | DISEASES |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 237 |
|---|---|
| Disease | sotos syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:55) HP:0001263 | Global developmental delay HP:0000028 | Cryptorchidism HP:0005562 | Multiple renal cysts HP:0010978 | Abnormality of immune system physiology HP:0000826 | Precocious puberty HP:0002119 | Ventriculomegaly HP:0000256 | Macrocrania HP:0000218 | High palate HP:0006288 | Advanced eruption of teeth HP:0000075 | Renal duplication HP:0000047 | Hypospadias HP:0001374 | Congenital hip dislocation HP:0000098 | Tall stature HP:0000347 | Micrognathia HP:0002970 | Genu varum HP:0007370 | Aplasia/Hypoplasia of the corpus callosum HP:0000303 | Mandibular prognathia HP:0002007 | Frontal bossing HP:0004375 | Neoplasm of the nervous system HP:0000486 | Strabismus HP:0000316 | Hypertelorism HP:0001943 | Hypoglycemia HP:0000069 | Abnormality of the ureter HP:0001643 | Patent ductus arteriosus HP:0001249 | Mental retardation HP:0000076 | Vesicoureteral reflux HP:0008872 | Feeding difficulties in infancy HP:0000494 | Downslanted palpebral fissures HP:0002353 | EEG abnormality HP:0000708 | Behavioral abnormality HP:0001250 | Seizures HP:0002664 | Neoplasm HP:0000457 | Depressed nasal ridge HP:0000256 | Macrocephaly HP:0002650 | Scoliosis HP:0005616 | Early bone maturation HP:0030736 | Sacrococcygeal teratoma HP:0002857 | Genu valgum HP:0000268 | Dolichocephaly HP:0000405 | Conductive hearing impairment HP:0005616 | Accelerated skeletal maturation HP:0001249 | Intellectual disability HP:0000303 | Increased size of lower jaw HP:0001363 | Craniosynostosis HP:0001513 | Obesity HP:0000348 | High forehead HP:0001347 | Hyperreflexia HP:0000463 | Anteverted nares HP:0000098 | Increased body height HP:0000400 | Macrotia HP:0000280 | Coarse facial features HP:0001252 | Muscular hypotonia HP:0011220 | Prominent forehead HP:0001231 | Abnormality of the fingernails HP:0001671 | Abnormality of the cardiac septa |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0030682 | Left ventricular noncompaction | 1 HP:0100615 | Neoplasm of the ovary | 1 HP:0001252 | Hypotonia | 1 HP:0003072 | Hypercalcemia | 1 HP:0001249 | Mental retardation | 1 HP:0100522 | Thymoma | 1 HP:0002664 | Neoplasia | 1 HP:0002107 | Collapsed lung | 1 HP:0000405 | Conductive hearing loss | 1 |
| Disease ID | 237 |
|---|---|
| Disease | sotos syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:15) C1962986 | glaucoma C0699791 | gastric carcinoma C0694889 | retinoblastoma C0521694 | retinal atrophy C0455683 | congenital heart disease C0410652 | cervical spine instability C0221355 | macrocephaly C0206624 | hepatoblastoma C0149925 | small cell lung carcinoma C0024314 | lymphoproliferative disorders C0022661 | chronic renal failure C0018799 | cardiopathy C0016045 | fibromas C0014145 | yolk sac tumour C0004352 | autistic disorder |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| NSD1 | Chr5:g.176710797A>T, heterozygous;NM_022455.4, NP_071900.2;c.6019A>T, p.(Ile2007Phe) | doi:10.1038/gim.2016.1 | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders |
| NSD1 | Het del exon 5 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
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:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005562 | Multiple renal cysts | MP:0000522 | kidney cortex cysts | abnormal membranous sacs appearing in the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration, containing the renal corpuscles, the renal tubules (except for parts of the loop of Henle which |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| 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:0001671 | Abnormality of the cardiac septa | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0004375 | Neoplasm of the nervous system | MP:0010287 | increased reproductive system tumor incidence | greater than the expected number of tumors originating in the reproductive system in a given population in a given time period |
| HP:0000457 | Depressed nasal ridge | MP:0004872 | absent nasal septum | absence of the structure that separates the two nasal cavities |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0000076 | Vesicoureteral reflux | MP:0001948 | vesicoureteral reflux | the retrograde flow of urine from the bladder into the ureters and kidneys |
| HP:0005616 | Accelerated skeletal maturation | MP:0003378 | early sexual maturation | pubertal changes occur at an earlier than normal age |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0000405 | Conductive hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
| HP:0001231 | Abnormality of the fingernails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 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:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0000069 | Abnormality of the ureter | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000280 | Coarse facial features | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| 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:0006288 | Advanced eruption of teeth | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
Mapped by homologous gene(Total Items:49) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000268 | Dolichocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001250 | Seizures | 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:0000303 | Mandibular prognathia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0002353 | EEG abnormality | 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:0000098 | Tall stature | 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:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000069 | Abnormality of the ureter | 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:0006288 | Advanced eruption of teeth | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0005616 | Accelerated skeletal maturation | 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 |
| HP:0001347 | Hyperreflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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: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:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000047 | Hypospadias | 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:0005562 | Multiple renal cysts | MP:0011108 | embryonic lethality during organogenesis, 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 embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0001363 | Craniosynostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002970 | Genu varum | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000028 | Cryptorchidism | 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:0007370 | Aplasia/Hypoplasia of the corpus callosum | 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:0000075 | Renal duplication | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| HP:0001374 | Congenital hip dislocation | 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:0000076 | Vesicoureteral reflux | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0002857 | Genu valgum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000457 | Depressed nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000405 | Conductive hearing impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0004375 | Neoplasm of the nervous system | 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:0001943 | Hypoglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001513 | Obesity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000348 | High forehead | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000826 | Precocious puberty | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0008872 | Feeding difficulties in infancy | 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:0011220 | Prominent forehead | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001671 | Abnormality of the cardiac septa | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| HP:0000494 | Downslanted palpebral fissures | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| 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:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002007 | Frontal bossing | 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 |
| Disease ID | 237 |
|---|---|
| Disease | sotos syndrome |
| Case | (Waiting for update.) |