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	prader willi syndrome

Disease ID	798
Disease	prader willi syndrome
Definition	An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
Synonym	labhart willi prader fanconi syndrome labhart willi syndrome labhart-willi syndrome labhart-willi-prader-fanconi syndrome obesity-cryptorchidism-dwarfism-subnormal mentality syndrome prader - willi syndrome prader labhart willi syndrome prader syndrome willi prader syndrome willies prader syndrome willis prader syndrome willy prader willi syndromes prader willies syndrome prader willis syndrome prader willy syndrome prader-labhart-willi syndrome prader-willi syndrome prader-willi syndrome (disorder) prader-willi syndrome [disease/finding] pws syndrome prader-willi syndrome willi prader syndrome, labhart-willi syndrome, labhart-willi-prader-fanconi syndrome, prader-labhart-willi syndrome, prader-willi syndrome, willi-prader willi prader syndrome willi-prader syndrome
Orphanet	ORPHANET:739
OMIM	OMIM:176270
DOID	DOID:11983
UMLS	C0032897
MeSH	D011218
SNOMED-CT	SNOMEDCT_US_2016_09_01:89392001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:33) C0014544 \| epilepsy \| 6 C0020619 \| hypogonadism \| 6 C0028754 \| obesity \| 5 C0037315 \| sleep apnea \| 3 C0037317 \| sleep disturbances \| 2 C0037317 \| sleep disturbance \| 2 C0520679 \| obstructive sleep apnea \| 2 C0036439 \| scoliosis \| 2 C0020224 \| polyhydramnios \| 2 C0011884 \| diabetic retinopathy \| 1 C0011847 \| diabetes \| 1 C0009806 \| constipation \| 1 C0001623 \| adrenal insufficiency \| 1 C0007193 \| dilated cardiomyopathy \| 1 C0031090 \| periodontal disease \| 1 C1565489 \| renal insufficiency \| 1 C0011334 \| dental caries \| 1 C0022735 \| hypogonadotropic hypogonadism \| 1 C0221355 \| macrocephaly \| 1 C0040053 \| thrombosis \| 1 C0851578 \| sleep disorders \| 1 C0020598 \| hypoglycemia \| 1 C0029456 \| osteoporosis \| 1 C0011334 \| caries \| 1 C0948265 \| metabolic syndrome \| 1 C0014130 \| endocrine disorders \| 1 C0037198 \| sinus thrombosis \| 1 C0154830 \| proliferative diabetic retinopathy \| 1 C0037315 \| sleep disordered breathing \| 1 C0028756 \| severe obesity \| 1 C0037315 \| sleep-disordered breathing \| 1 C0035309 \| retinopathy \| 1 C0010068 \| coronary artery disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 4948 \| OCA2 \| GHR;UNIPROT 4692 \| NDN \| CTD_human;UNIPROT 54551 \| MAGEL2 \| CTD_human;UNIPROT 6638 \| SNRPN \| CTD_human;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:135) 51205 \| ACP6 \| 2.437 \| DISEASES 9370 \| ADIPOQ \| 2.482 \| DISEASES 79602 \| ADIPOR2 \| 1.162 \| DISEASES 10620 \| ARID3B \| 1.902 \| DISEASES 5926 \| ARID4A \| 1.724 \| DISEASES 220202 \| ATOH7 \| 2.292 \| DISEASES 57194 \| ATP10A \| 4 \| DISEASES 546 \| ATRX \| 1.018 \| DISEASES 29994 \| BAZ2B \| 1.595 \| DISEASES 627 \| BDNF \| 1.031 \| DISEASES 57118 \| CAMK1D \| 1.561 \| DISEASES 114769 \| CARD16 \| 2.585 \| DISEASES 885 \| CCK \| 1.257 \| DISEASES 916 \| CD3E \| 1.13 \| DISEASES 8558 \| CDK10 \| 1.778 \| DISEASES 55835 \| CENPJ \| 1.318 \| DISEASES 1123 \| CHN1 \| 1.501 \| DISEASES 1133 \| CHRM5 \| 2.25 \| DISEASES 1139 \| CHRNA7 \| 1.677 \| DISEASES 7464 \| CORO2A \| 4.209 \| DISEASES 594855 \| CPLX3 \| 2.26 \| DISEASES 23191 \| CYFIP1 \| 3.636 \| DISEASES 10522 \| DEAF1 \| 1.656 \| DISEASES 1735 \| DIO3 \| 2.697 \| DISEASES 8788 \| DLK1 \| 2.339 \| DISEASES 1745 \| DLX1 \| 1.497 \| DISEASES 1747 \| DLX3 \| 1.379 \| DISEASES 8818 \| DPM2 \| 2.097 \| DISEASES 1869 \| E2F1 \| 1.398 \| DISEASES 10919 \| EHMT2 \| 1.701 \| DISEASES 23741 \| EID1 \| 1.403 \| DISEASES 2058 \| EPRS \| 1.032 \| DISEASES 2116 \| ETV2 \| 2.27 \| DISEASES 399665 \| FAM102A \| 2.785 \| DISEASES 2328 \| FMO3 \| 1.497 \| DISEASES 2332 \| FMR1 \| 2.388 \| DISEASES 252995 \| FNDC5 \| 1.334 \| DISEASES 2558 \| GABRA5 \| 4.966 \| DISEASES 2567 \| GABRG3 \| 4.031 \| DISEASES 2641 \| GCG \| 1.579 \| DISEASES 51738 \| GHRL \| 5.346 \| DISEASES 2778 \| GNAS \| 1.207 \| DISEASES 149775 \| GNAS-AS1 \| 1.715 \| DISEASES 283685 \| GOLGA6L2 \| 1.995 \| DISEASES 4670 \| HNRNPM \| 1.713 \| DISEASES 3481 \| IGF2 \| 1.612 \| DISEASES 3486 \| IGFBP3 \| 2.422 \| DISEASES 3640 \| INSL3 \| 1.746 \| DISEASES 3653 \| IPW \| 6.272 \| DISEASES 23096 \| IQSEC2 \| 1.868 \| DISEASES 133746 \| JMY \| 2.26 \| DISEASES 3953 \| LEPR \| 1.722 \| DISEASES 9500 \| MAGED1 \| 3.889 \| DISEASES 54551 \| MAGEL2 \| 6.352 \| DISEASES 10046 \| MAMLD1 \| 1.234 \| DISEASES 10905 \| MAN1A2 \| 2.883 \| DISEASES 11253 \| MAN1B1 \| 2.148 \| DISEASES 9053 \| MAP7 \| 2.187 \| DISEASES 55777 \| MBD5 \| 1.867 \| DISEASES 4157 \| MC1R \| 1.135 \| DISEASES 4204 \| MECP2 \| 2.886 \| DISEASES 55384 \| MEG3 \| 2.656 \| DISEASES 10108 \| MKRN3-AS1 \| 4.504 \| DISEASES 4601 \| MXI1 \| 1.207 \| DISEASES 4642 \| MYO1D \| 2.057 \| DISEASES 339345 \| NANOS2 \| 2.672 \| DISEASES 4692 \| NDN \| 6.735 \| DISEASES 4693 \| NDP \| 1.038 \| DISEASES 4808 \| NHLH2 \| 2.106 \| DISEASES 123606 \| NIPA1 \| 3.496 \| DISEASES 81614 \| NIPA2 \| 3.401 \| DISEASES 57185 \| NIPAL3 \| 3.329 \| DISEASES 55655 \| NLRP2 \| 1.508 \| DISEASES 199713 \| NLRP7 \| 1.351 \| DISEASES 4828 \| NMB \| 1.226 \| DISEASES 23742 \| NPAP1 \| 5.612 \| DISEASES 594857 \| NPS \| 1.09 \| DISEASES 4887 \| NPY2R \| 1.581 \| DISEASES 23386 \| NUDCD3 \| 3.137 \| DISEASES 4948 \| OCA2 \| 4.935 \| DISEASES 283694 \| OR4N4 \| 3.37 \| DISEASES 5021 \| OXTR \| 2.446 \| DISEASES 54681 \| P4HTM \| 1.19 \| DISEASES 23022 \| PALLD \| 1.209 \| DISEASES 27328 \| PCDH11X \| 1.379 \| DISEASES 359809 \| PEG13 \| 1.184 \| DISEASES 5178 \| PEG3 \| 1.19 \| DISEASES 84295 \| PHF6 \| 1.02 \| DISEASES 64219 \| PJA1 \| 2.542 \| DISEASES 5447 \| POR \| 1.099 \| DISEASES 23362 \| PSD3 \| 2.156 \| DISEASES 5803 \| PTPRZ1 \| 1.106 \| DISEASES 8123 \| PWAR5 \| 5.569 \| DISEASES 791114 \| PWRN1 \| 4.027 \| DISEASES 5697 \| PYY \| 3.707 \| DISEASES 22930 \| RAB3GAP1 \| 1.354 \| DISEASES 23543 \| RBFOX2 \| 1.456 \| DISEASES 1104 \| RCC1 \| 1.081 \| DISEASES 10171 \| RCL1 \| 2.22 \| DISEASES 6029 \| RN7SL1 \| 2.009 \| DISEASES 23521 \| RPL13A \| 1.424 \| DISEASES 388015 \| RTL1 \| 4.099 \| DISEASES 22902 \| RUFY3 \| 3.013 \| DISEASES 6263 \| RYR3 \| 1.341 \| DISEASES 6456 \| SH3GL2 \| 1.782 \| DISEASES 6473 \| SHOX \| 3.577 \| DISEASES 25942 \| SIN3A \| 2.301 \| DISEASES 23347 \| SMCHD1 \| 1.766 \| DISEASES 6609 \| SMPD1 \| 1.056 \| DISEASES 104472715 \| SNHG14 \| 2.945 \| DISEASES 677816 \| SNORA35 \| 3.956 \| DISEASES 338427 \| SNORD108 \| 4.484 \| DISEASES 338429 \| SNORD109B \| 5.198 \| DISEASES 692218 \| SNORD115@ \| 5.864 \| DISEASES 692236 \| SNORD116@ \| 6.093 \| DISEASES 100113378 \| SNORD119 \| 3.956 \| DISEASES 347686 \| SNORD64 \| 5.261 \| DISEASES 6628 \| SNRPB \| 2.124 \| DISEASES 8926 \| SNURF \| 5.592 \| DISEASES 6642 \| SNX1 \| 1.87 \| DISEASES 64220 \| STRA6 \| 1.254 \| DISEASES 6878 \| TAF6 \| 2.994 \| DISEASES 80213 \| TM2D3 \| 2.86 \| DISEASES 121278 \| TPH2 \| 1.07 \| DISEASES 5987 \| TRIM27 \| 1.491 \| DISEASES 7337 \| UBE3A \| 5.759 \| DISEASES 90249 \| UNC5A \| 1.539 \| DISEASES 285175 \| UNC80 \| 2.275 \| DISEASES 157680 \| VPS13B \| 3.552 \| DISEASES 7503 \| XIST \| 1.832 \| DISEASES 22803 \| XRN2 \| 2.029 \| DISEASES 8565 \| YARS \| 2.226 \| DISEASES 51530 \| ZC3HC1 \| 1.855 \| DISEASES 346171 \| ZFP57 \| 1.562 \| DISEASES 10782 \| ZNF274 \| 2.115 \| DISEASES
Locus	(Waiting for update.)

Disease ID	798
Disease	prader willi syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:36) HP:0000135 \| Hypogonadism \| 6 HP:0001513 \| Obesity \| 5 HP:0010535 \| Sleep apnea \| 3 HP:0002591 \| Voracious appetite \| 3 HP:0002104 \| Absence of spontaneous respiration \| 3 HP:0000708 \| Behavioral problems \| 2 HP:0001561 \| Hydramnios \| 2 HP:0002650 \| Scoliosis \| 2 HP:0002360 \| Sleep disturbance \| 2 HP:0002870 \| Obstructive sleep apnea \| 2 HP:0000670 \| Dental caries \| 1 HP:0100309 \| Subdural hemorrhage \| 1 HP:0003256 \| Coagulopathy \| 1 HP:0001262 \| Somnolence \| 1 HP:0001270 \| Motor retardation \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0000256 \| Macrocrania \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0001943 \| Hypoglycemia \| 1 HP:0002189 \| Excessive daytime sleepiness \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0000020 \| Bladder incontinence \| 1 HP:0000846 \| Hypoadrenalism \| 1 HP:0001250 \| Seizures \| 1 HP:0001252 \| Hypotonia \| 1 HP:0010819 \| drop attacks \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0005181 \| Premature coronary artery disease \| 1 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0001644 \| Congestive cardiomyopathy \| 1 HP:0003241 \| External genital hypoplasia \| 1 HP:0002578 \| Gastroparesis \| 1 HP:0002019 \| Dyschezia \| 1 HP:0012450 \| Chronic constipation \| 1

Disease ID	798
Disease	prader willi syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
15q11.2q13.1	-	doi:10.1038/gim.2015.51	Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs397514698	25188413	2776	GNAQ	umls:C0032897	BeFree	A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue but not in the normal skin sample.	0.000271442	2015	GNAQ	9	77797577	C	T

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	798
Disease	prader willi syndrome
Case	(Waiting for update.)

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