PedAM

Pediatric Disease Annotations & Medicines


	sotos syndrome 1

Disease ID	1103
Disease	sotos syndrome 1
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 sotos syndrome [disease/finding] sotos' syndrome sotos' syndrome (disorder) sotos1 syndrome cerebral gigantism syndrome, sotos syndrome, sotos'
Orphanet	ORPHANET:821
OMIM	OMIM:117550
DOID	DOID:14748
UMLS	C0175695
MeSH	D058495
SNOMED-CT	SNOMEDCT_US_2016_09_01:75968004
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) NSD1 \| 64324 \| CTD_human;GHR;ORPHANET;UNIPROT APC2 \| 10297 \| ORPHANET SETD2 \| 29072 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 64324 \| NSD1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:78) 64132 \| XYLT2 \| DISEASES 11285 \| B4GALT7 \| DISEASES 2249 \| FGF4 \| DISEASES 5351 \| PLOD1 \| DISEASES 2158 \| F9 \| DISEASES 54922 \| RASIP1 \| DISEASES 2645 \| GCK \| DISEASES 2690 \| GHR \| DISEASES 3485 \| IGFBP2 \| DISEASES 4488 \| MSX2 \| DISEASES 7389 \| UROD \| DISEASES 6754 \| SSTR4 \| DISEASES 2324 \| FLT4 \| DISEASES 4591 \| TRIM37 \| DISEASES 1387 \| CREBBP \| DISEASES 1801 \| DPH1 \| DISEASES 2033 \| EP300 \| DISEASES 3480 \| IGF1R \| DISEASES 3487 \| IGFBP4 \| DISEASES 4211 \| MEIS1 \| DISEASES 25836 \| NIPBL \| DISEASES 8365 \| HIST1H4H \| DISEASES 2264 \| FGFR4 \| DISEASES 84838 \| ZNF496 \| DISEASES 3489 \| IGFBP6 \| DISEASES 112398 \| EGLN2 \| DISEASES 2688 \| GH1 \| DISEASES 3556 \| IL1RAP \| DISEASES 4928 \| NUP98 \| DISEASES 6569 \| SLC34A1 \| DISEASES 7586 \| ZKSCAN1 \| DISEASES 1812 \| DRD1 \| DISEASES 1482 \| NKX2-5 \| DISEASES 3768 \| KCNJ12 \| DISEASES 84282 \| RNF135 \| DISEASES 677 \| ZFP36L1 \| DISEASES 54681 \| P4HTM \| DISEASES 8360 \| HIST1H4D \| DISEASES 26280 \| IL1RAPL2 \| DISEASES 3767 \| KCNJ11 \| DISEASES 8294 \| HIST1H4I \| DISEASES 8363 \| HIST1H4J \| DISEASES 26503 \| SLC17A5 \| DISEASES 8368 \| HIST1H4L \| DISEASES 64067 \| NPAS3 \| DISEASES 8362 \| HIST1H4K \| DISEASES 121504 \| HIST4H4 \| DISEASES 157680 \| VPS13B \| DISEASES 8822 \| FGF17 \| DISEASES 8359 \| HIST1H4A \| DISEASES 8367 \| HIST1H4E \| DISEASES 554313 \| HIST2H4B \| DISEASES 8370 \| HIST2H4A \| DISEASES 6566 \| SLC16A1 \| DISEASES 2332 \| FMR1 \| DISEASES 2159 \| F10 \| DISEASES 171023 \| ASXL1 \| DISEASES 84898 \| PLXDC2 \| DISEASES 8366 \| HIST1H4B \| DISEASES 8361 \| HIST1H4F \| DISEASES 8364 \| HIST1H4C \| DISEASES 152485 \| ZNF827 \| DISEASES 3486 \| IGFBP3 \| DISEASES 10675 \| CSPG5 \| DISEASES 7247 \| TSN \| DISEASES 6833 \| ABCC8 \| DISEASES 2719 \| GPC3 \| DISEASES 4784 \| NFIX \| DISEASES 3033 \| HADH \| DISEASES 29072 \| SETD2 \| DISEASES 3481 \| IGF2 \| DISEASES 55636 \| CHD7 \| DISEASES 64324 \| NSD1 \| DISEASES 4908 \| NTF3 \| DISEASES 5578 \| PRKCA \| DISEASES 3483 \| IGFALS \| DISEASES 203447 \| NRK \| DISEASES 84525 \| HOPX \| DISEASES
Locus	(Waiting for update.)

Disease ID	1103
Disease	sotos syndrome 1
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:5) HP:0005616 \| Early bone maturation HP:0001249 \| Mental retardation HP:0000098 \| Increased body height HP:0000256 \| Macrocrania HP:0000303 \| Increased size of lower jaw
Text Mined Phenotype	(Waiting for update.)

Disease ID	1103
Disease	sotos syndrome 1
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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