Details of Disease

General Information of Disease (ID: DISYWMLU)

• Disease Name: Prader-Willi syndrome
• Synonyms: Prader-Willi syndrome chromosome region; obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet; obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet; Prader-Willi-like syndrome associated with chromosome 6; PWS; Prader-Willi syndrome; Prader-Labhart-Willi syndrome; Prader Willi syndrome; Prader-Willi-Labhart syndrome; Willi-Prader syndrome
• Disease Class: LD90: Intellectual development disorder
• Definition: Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.
• Disease Hierarchy:
  DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
  DIS6SVEE: Syndromic disease
  DIS2BIP8: Congenital nervous system disorder
  DISEV092: Congenital hypogonadotropic hypogonadism
  DISYOKTG: Mendelian neurodevelopmental disorder
  DISB9AFI: Complex neurodevelopmental disorder
  DISM5BB5: Chromosomal disorder
  DISYWMLU: Prader-Willi syndrome
• ICD Code:
  ICD-11: ICD-11: LD90.3
  ICD-10: ICD-10: Q87.1
  Expand ICD-11: 'LD90.3
  Expand ICD-10: 'Q87.1
• Disease Identifiers:
  MONDO ID: MONDO_0008300
  MESH ID: D011218
  UMLS CUI: C0032897
  OMIM ID: 176270
  MedGen ID: 46057
  Orphanet ID: 739
  SNOMED CT ID: 89392001

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Setmelanotide	DMPVRN9	Approved	NA	[1]

This Disease is Treated as An Indication in 3 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
BSN175	DMP0WIV	Phase 3	NA	[2]
DCCR	DMRR5P0	Phase 3	NA	[3]
Livoletide	DM652O6	Phase 2/3	Peptide	[4]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 23 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CIT	TT3BKTU	moderate	Biomarker	[5]
HDC	TTV9GOF	moderate	Genetic Variation	[6]
HTR2C	TTWJBZ5	moderate	Altered Expression	[7]
NPY2R	TTJ6WK9	moderate	Altered Expression	[8]
PDPK1	TTYMGWX	moderate	Biomarker	[9]
PGC	TT7K6AD	moderate	Biomarker	[10]
PYY	TTVFJLX	moderate	Altered Expression	[8]
DMD	TTWLFXU	Strong	Biomarker	[11]
EHMT2	TTS6RZT	Strong	Altered Expression	[12]
GABRG3	TTEX6LM	Strong	Biomarker	[13]
GH1	TTT3YKH	Strong	Biomarker	[14]
GHRL	TT1OCL0	Strong	Biomarker	[15]
GLP1R	TTVIMDE	Strong	Biomarker	[16]
GNAQ	TTL1SRG	Strong	Genetic Variation	[17]
HCRT	TTU5HJP	Strong	Altered Expression	[18]
HTR2B	TT0K1SC	Strong	Biomarker	[19]
METAP2	TTZL0OI	Strong	Biomarker	[20]
PCSK1	TTED9LZ	Strong	Altered Expression	[21]
PREPL	TT3HYDO	Strong	Biomarker	[22]
PTPN11	TT7WUAV	Strong	Biomarker	[23]
RAF1	TTAN5W2	Strong	Biomarker	[24]
RASA1	TTPNZ1F	Strong	Genetic Variation	[25]
SOST	TTYRO4F	Definitive	Biomarker	[26]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ATP10A	DTTQ8WI	Strong	Altered Expression	[27]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DIO3	DET89OV	moderate	Altered Expression	[28]
FMO2	DEIASEZ	moderate	Genetic Variation	[29]

This Disease Is Related to 35 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GABRB3	OT80C3D4	Limited	Biomarker	[30]
MRAP2	OTCQS7DB	Limited	Biomarker	[31]
RBMY1A1	OTM2F25H	Limited	Genetic Variation	[32]
SIM1	OTYKFPKZ	Limited	Biomarker	[33]
STOML3	OTLQGALK	Limited	Biomarker	[34]
ACADS	OTGFANYQ	moderate	Altered Expression	[35]
ANGPTL8	OTQFINCD	moderate	Altered Expression	[36]
ANKRD36B	OT3MW415	moderate	Genetic Variation	[37]
CYFIP1	OTOBEH24	moderate	Altered Expression	[38]
EID1	OT3OI5H4	moderate	Biomarker	[39]
ENHO	OT91QASK	moderate	Biomarker	[15]
HNRNPM	OTFU3OEZ	moderate	Biomarker	[40]
NIPA1	OT9ODC8X	moderate	Altered Expression	[38]
NIPA2	OT4NEBNO	moderate	Altered Expression	[38]
POM121	OTIA7ZOQ	moderate	Biomarker	[41]
SCG2	OTXWUQQL	moderate	Biomarker	[42]
STATH	OTQHBHM9	moderate	Biomarker	[43]
BEST1	OTWHE1ZC	Strong	Biomarker	[11]
FMR1	OTWEV0T5	Strong	Genetic Variation	[44]
GHRH	OT94U6MO	Strong	Genetic Variation	[45]
GOLGA6A	OTHU9MRX	Strong	Biomarker	[46]
LZTR1	OTIDM6XO	Strong	Biomarker	[47]
MAGED1	OT6EOLFC	Strong	Biomarker	[48]
MAGEL2	OTXEL4R7	Strong	Biomarker	[11]
MKRN3	OTAFO4YR	Strong	Genetic Variation	[49]
NHLH2	OT88N84O	Strong	Biomarker	[21]
NSMCE3	OTBD4MSP	Strong	Biomarker	[50]
OCA2	OTDWIGBF	Strong	Biomarker	[30]
PRDM9	OTWAHLUR	Strong	Genetic Variation	[51]
RIT1	OTVNOGOH	Strong	Biomarker	[52]
RNF13	OT7HNYF4	Strong	Biomarker	[53]
SAG	OTDNS3ZQ	Strong	Altered Expression	[19]
SETDB1	OTWVUA1B	Strong	Altered Expression	[12]
SOS1	OTTCWXC3	Strong	Biomarker	[54]
TSPY1	OTPY57X4	Strong	Biomarker	[13]

References

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• [2] Clinical pipeline report, company report or official report of Biospherics.net
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