PedAM

Pediatric Disease Annotations & Medicines


	prader-willi syndrome

Disease ID	810
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 syndrome prader willi syndromes prader willies syndrome prader willis syndrome prader willy syndrome prader-labhart-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:34) C0014544 \| epilepsy \| 6 C0020619 \| hypogonadism \| 5 C0028754 \| obesity \| 5 C0037315 \| sleep apnea \| 3 C0520679 \| obstructive sleep apnea \| 2 C0020224 \| polyhydramnios \| 2 C0036439 \| scoliosis \| 2 C0028754 \| adiposity \| 1 C0035309 \| retinopathy \| 1 C0154830 \| proliferative diabetic retinopathy \| 1 C0037317 \| sleep disturbances \| 1 C0001623 \| adrenal insufficiency \| 1 C0011334 \| caries \| 1 C0037315 \| sleep-disordered breathing \| 1 C0010068 \| coronary artery disease \| 1 C0221355 \| macrocephaly \| 1 C0948265 \| metabolic syndrome \| 1 C0851578 \| sleep disorders \| 1 C1565489 \| renal insufficiency \| 1 C0040053 \| thrombosis \| 1 C0028756 \| severe obesity \| 1 C0037198 \| sinus thrombosis \| 1 C0022735 \| hypogonadotropic hypogonadism \| 1 C0014130 \| endocrine disorders \| 1 C0009806 \| constipation \| 1 C0029456 \| osteoporosis \| 1 C0011884 \| diabetic retinopathy \| 1 C0037317 \| sleep disturbance \| 1 C0031090 \| periodontal disease \| 1 C0037315 \| sleep disordered breathing \| 1 C0011847 \| diabetes \| 1 C0011334 \| dental caries \| 1 C0007193 \| dilated cardiomyopathy \| 1 C0020598 \| hypoglycemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) OCA2 \| 4948 \| GHR SNRPN \| 6638 \| CTD_human MAGEL2 \| 54551 \| CTD_human NDN \| 4692 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:222) 5166 \| PDK4 \| DISEASES 10942 \| PRSS21 \| DISEASES 4804 \| NGFR \| DISEASES 7216 \| TRO \| DISEASES 2327 \| FMO2 \| DISEASES 140733 \| MACROD2 \| DISEASES 128674 \| PROKR2 \| DISEASES 5020 \| OXT \| DISEASES 10916 \| MAGED2 \| DISEASES 268 \| AMH \| DISEASES 56729 \| RETN \| DISEASES 6822 \| SULT2A1 \| DISEASES 3216 \| HOXB6 \| DISEASES 5539 \| PPY \| DISEASES 41 \| ASIC1 \| DISEASES 11272 \| PRR4 \| DISEASES 11103 \| KRR1 \| DISEASES 2690 \| GHR \| DISEASES 10314 \| LANCL1 \| DISEASES 3485 \| IGFBP2 \| DISEASES 1746 \| DLX2 \| DISEASES 84634 \| KISS1R \| DISEASES 2691 \| GHRH \| DISEASES 2693 \| GHSR \| DISEASES 4852 \| NPY \| DISEASES 7389 \| UROD \| DISEASES 3630 \| INS \| DISEASES 22856 \| CHSY1 \| DISEASES 1401 \| CRP \| DISEASES 112609 \| MRAP2 \| DISEASES 9649 \| RALGPS1 \| DISEASES 3290 \| HSD11B1 \| DISEASES 8482 \| SEMA7A \| DISEASES 6492 \| SIM1 \| DISEASES 79066 \| METTL16 \| DISEASES 7290 \| HIRA \| DISEASES 84083 \| ZRANB3 \| DISEASES 51742 \| ARID4B \| DISEASES 8745 \| ADAM23 \| DISEASES 5929 \| RBBP5 \| DISEASES 5443 \| POMC \| DISEASES 10863 \| ADAM28 \| DISEASES 6425 \| SFRP5 \| DISEASES 283431 \| GAS2L3 \| DISEASES 863 \| CBFA2T3 \| DISEASES 54858 \| PGPEP1 \| DISEASES 93650 \| ACPT \| DISEASES 9869 \| SETDB1 \| DISEASES 6769 \| STAC \| DISEASES 1404 \| HAPLN1 \| DISEASES 3484 \| IGFBP1 \| DISEASES 3358 \| HTR2C \| DISEASES 2796 \| GNRH1 \| DISEASES 1392 \| CRH \| DISEASES 114791 \| TUBGCP5 \| DISEASES 123720 \| WHAMM \| DISEASES 6750 \| SST \| DISEASES 26060 \| APPL1 \| DISEASES 23516 \| SLC39A14 \| DISEASES 181 \| AGRP \| DISEASES 3060 \| HCRT \| DISEASES 28999 \| KLF15 \| DISEASES 11067 \| C10orf10 \| DISEASES 9317 \| PTER \| DISEASES 2562 \| GABRB3 \| DISEASES 9150 \| CTDP1 \| DISEASES 4160 \| MC4R \| DISEASES 6866 \| TAC3 \| DISEASES 6447 \| SCG5 \| DISEASES 4589 \| MUC7 \| DISEASES 3479 \| IGF1 \| DISEASES 6870 \| TACR3 \| DISEASES 5940 \| RBMY1A1 \| DISEASES 7857 \| SCG2 \| DISEASES 6638 \| SNRPN \| DISEASES 57099 \| AVEN \| DISEASES 5122 \| PCSK1 \| DISEASES 8609 \| KLF7 \| DISEASES 55279 \| ZNF654 \| DISEASES 3952 \| LEP \| DISEASES 2688 \| GH1 \| DISEASES 7681 \| MKRN3 \| DISEASES 619373 \| MBOAT4 \| DISEASES 931 \| MS4A1 \| DISEASES 29926 \| GMPPA \| DISEASES 4161 \| MC5R \| DISEASES 55884 \| WSB2 \| DISEASES 9370 \| ADIPOQ \| DISEASES 10782 \| ZNF274 \| DISEASES 3640 \| INSL3 \| DISEASES 4808 \| NHLH2 \| DISEASES 8818 \| DPM2 \| DISEASES 23362 \| PSD3 \| DISEASES 5021 \| OXTR \| DISEASES 4642 \| MYO1D \| DISEASES 23191 \| CYFIP1 \| DISEASES 4670 \| HNRNPM \| DISEASES 5178 \| PEG3 \| DISEASES 23347 \| SMCHD1 \| DISEASES 121278 \| TPH2 \| DISEASES 84295 \| PHF6 \| DISEASES 3953 \| LEPR \| DISEASES 80213 \| TM2D3 \| DISEASES 4601 \| MXI1 \| DISEASES 2567 \| GABRG3 \| DISEASES 283694 \| OR4N4 \| DISEASES 4887 \| NPY2R \| DISEASES 4692 \| NDN \| DISEASES 90249 \| UNC5A \| DISEASES 23742 \| NPAP1 \| DISEASES 51738 \| GHRL \| DISEASES 2558 \| GABRA5 \| DISEASES 885 \| CCK \| DISEASES 8926 \| SNURF \| DISEASES 123606 \| NIPA1 \| DISEASES 81614 \| NIPA2 \| DISEASES 8558 \| CDK10 \| DISEASES 8788 \| DLK1 \| DISEASES 6609 \| SMPD1 \| DISEASES 339345 \| NANOS2 \| DISEASES 54681 \| P4HTM \| DISEASES 10620 \| ARID3B \| DISEASES 7464 \| CORO2A \| DISEASES 1869 \| E2F1 \| DISEASES 4948 \| OCA2 \| DISEASES 5926 \| ARID4A \| DISEASES 23386 \| NUDCD3 \| DISEASES 10905 \| MAN1A2 \| DISEASES 57194 \| ATP10A \| DISEASES 79602 \| ADIPOR2 \| DISEASES 51530 \| ZC3HC1 \| DISEASES 157680 \| VPS13B \| DISEASES 1735 \| DIO3 \| DISEASES 5697 \| PYY \| DISEASES 25942 \| SIN3A \| DISEASES 1745 \| DLX1 \| DISEASES 916 \| CD3E \| DISEASES 64219 \| PJA1 \| DISEASES 2058 \| EPRS \| DISEASES 2328 \| FMO3 \| DISEASES 51205 \| ACP6 \| DISEASES 2332 \| FMR1 \| DISEASES 2778 \| GNAS \| DISEASES 11253 \| MAN1B1 \| DISEASES 27328 \| PCDH11X \| DISEASES 399665 \| FAM102A \| DISEASES 546 \| ATRX \| DISEASES 252995 \| FNDC5 \| DISEASES 8565 \| YARS \| DISEASES 220202 \| ATOH7 \| DISEASES 1104 \| RCC1 \| DISEASES 57185 \| NIPAL3 \| DISEASES 10919 \| EHMT2 \| DISEASES 9500 \| MAGED1 \| DISEASES 114769 \| CARD16 \| DISEASES 22803 \| XRN2 \| DISEASES 5987 \| TRIM27 \| DISEASES 4693 \| NDP \| DISEASES 57118 \| CAMK1D \| DISEASES 6456 \| SH3GL2 \| DISEASES 22902 \| RUFY3 \| DISEASES 3486 \| IGFBP3 \| DISEASES 6473 \| SHOX \| DISEASES 10171 \| RCL1 \| DISEASES 55835 \| CENPJ \| DISEASES 10522 \| DEAF1 \| DISEASES 1133 \| CHRM5 \| DISEASES 6263 \| RYR3 \| DISEASES 23521 \| RPL13A \| DISEASES 29994 \| BAZ2B \| DISEASES 5803 \| PTPRZ1 \| DISEASES 4828 \| NMB \| DISEASES 594855 \| CPLX3 \| DISEASES 133746 \| JMY \| DISEASES 23096 \| IQSEC2 \| DISEASES 7337 \| UBE3A \| DISEASES 594857 \| NPS \| DISEASES 2116 \| ETV2 \| DISEASES 55777 \| MBD5 \| DISEASES 1123 \| CHN1 \| DISEASES 2641 \| GCG \| DISEASES 1747 \| DLX3 \| DISEASES 285175 \| UNC80 \| DISEASES 3481 \| IGF2 \| DISEASES 4204 \| MECP2 \| DISEASES 6878 \| TAF6 \| DISEASES 1139 \| CHRNA7 \| DISEASES 55655 \| NLRP2 \| DISEASES 22930 \| RAB3GAP1 \| DISEASES 6628 \| SNRPB \| DISEASES 23543 \| RBFOX2 \| DISEASES 627 \| BDNF \| DISEASES 10046 \| MAMLD1 \| DISEASES 9053 \| MAP7 \| DISEASES 346171 \| ZFP57 \| DISEASES 5447 \| POR \| DISEASES 23022 \| PALLD \| DISEASES 23741 \| EID1 \| DISEASES 54551 \| MAGEL2 \| DISEASES 388015 \| RTL1 \| DISEASES 4157 \| MC1R \| DISEASES 6642 \| SNX1 \| DISEASES 283685 \| GOLGA6L2 \| DISEASES 64220 \| STRA6 \| DISEASES 199713 \| NLRP7 \| DISEASES 149775 \| GNAS-AS1 \| DISEASES 3653 \| IPW \| DISEASES 55384 \| MEG3 \| DISEASES 10108 \| MKRN3-AS1 \| DISEASES 359809 \| PEG13 \| DISEASES 8123 \| PWAR5 \| DISEASES 791114 \| PWRN1 \| DISEASES 6029 \| RN7SL1 \| DISEASES 104472715 \| SNHG14 \| DISEASES 677816 \| SNORA35 \| DISEASES 338427 \| SNORD108 \| DISEASES 338429 \| SNORD109B \| DISEASES 692218 \| SNORD115@ \| DISEASES 692236 \| SNORD116@ \| DISEASES 100113378 \| SNORD119 \| DISEASES 347686 \| SNORD64 \| DISEASES 7503 \| XIST \| DISEASES
Locus	(Waiting for update.)

Disease ID	810
Disease	prader-willi syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:30) HP:0100820 \| Glomerulopathy HP:0007598 \| Bilateral single transverse palmar creases HP:0000708 \| Behavioral abnormality HP:0001263 \| Global developmental delay HP:0004322 \| Short stature HP:0001156 \| Brachydactyly syndrome HP:0001251 \| Ataxia HP:0000486 \| Strabismus HP:0001250 \| Seizures HP:0000044 \| Hypogonadotrophic hypogonadism HP:0004209 \| Clinodactyly of the 5th finger HP:0000682 \| Abnormality of dental enamel HP:0001252 \| Muscular hypotonia HP:0001513 \| Obesity HP:0000506 \| Telecanthus HP:0100651 \| Type I diabetes mellitus HP:0000028 \| Cryptorchidism HP:0010720 \| Abnormal hair pattern HP:0001328 \| Specific learning disability HP:0008736 \| Hypoplasia of penis HP:0002714 \| Downturned corners of mouth HP:0001511 \| Intrauterine growth retardation HP:0002650 \| Scoliosis HP:0000494 \| Downslanted palpebral fissures HP:0004279 \| Short palm HP:0000252 \| Microcephaly HP:0001249 \| Intellectual disability HP:0002750 \| Delayed skeletal maturation HP:0100720 \| Hypoplasia of the ear cartilage HP:0000218 \| High palate
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:36) HP:0001513 \| Obesity \| 5 HP:0000135 \| Hypogonadism \| 5 HP:0002104 \| Absence of spontaneous respiration \| 3 HP:0010535 \| Sleep apnea \| 3 HP:0002591 \| Voracious appetite \| 3 HP:0001561 \| Hydramnios \| 2 HP:0000708 \| Behavioral problems \| 2 HP:0002870 \| Obstructive sleep apnea \| 2 HP:0002650 \| Scoliosis \| 2 HP:0000846 \| Hypoadrenalism \| 1 HP:0003241 \| External genital hypoplasia \| 1 HP:0000028 \| Cryptorchidism \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0001250 \| Seizures \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0005181 \| Premature coronary artery disease \| 1 HP:0000256 \| Macrocrania \| 1 HP:0002019 \| Dyschezia \| 1 HP:0001262 \| Somnolence \| 1 HP:0001644 \| Congestive cardiomyopathy \| 1 HP:0001943 \| Hypoglycemia \| 1 HP:0012450 \| Chronic constipation \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0003256 \| Coagulopathy \| 1 HP:0000670 \| Dental caries \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0010819 \| drop attacks \| 1 HP:0100309 \| Subdural hemorrhage \| 1 HP:0000020 \| Bladder incontinence \| 1 HP:0001270 \| Motor retardation \| 1 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0002360 \| Sleep disturbance \| 1 HP:0002189 \| Excessive daytime sleepiness \| 1 HP:0001252 \| Hypotonia \| 1

Disease ID	810
Disease	prader-willi syndrome
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: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.)

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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