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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Chromosome Disorders (D025063)
Parent Node: Intellectual Disability (D008607)
Parent Node: Obesity (D009765)
..Starting node ..Prader-Willi Syndrome (D011218)
Child Nodes:
........Prader-Willi habitus, osteopenia, and camptodactyly (C538276)
........Prader-Willi-Like Syndrome Associated With Chromosome 6 (C566764)
Sister Nodes:
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..Ayazi syndrome (C537793)
..Biemond Syndrome II (C565902)
..Biemond syndrome type 2 (C535439)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 (OMIM:607514)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11 (OMIM:300306)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (OMIM:612362)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13 (OMIM:612459)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 (OMIM:612460)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (OMIM:607447)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7 (OMIM:608410)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8 (OMIM:603188)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 (OMIM:602025)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Camera Marugo Cohen syndrome (C537964)
..Clark-Baraitser syndrome (C536208)
..Cohen syndrome (C536438)
..Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome (C566623)
..FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1 (OMIM:606035)
..Macrosomia obesity macrocephaly ocular abnormalities (C535812)
..MEHMO syndrome (C537451)
..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..MOMES Syndrome (C564660)
..MORM syndrome (C536984)
..Obesity Hypoventilation Syndrome (D010845)
..Obesity, Abdominal (D056128)
..Obesity, Hyperphagia, and Developmental Delay (C563938)
..Obesity, Morbid (D009767)
..Pediatric Obesity (D063766)
..Prader-Willi Syndrome (D011218) 2
..Prolactin Deficiency with Obesity and Enlarged Testes (C564870)
..Proopiomelanocortin Deficiency (C565726)
..Proprotein Convertase 1 3 Deficiency (C563423)
..PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
..Short Stature-Obesity Syndrome (C564821)
..Vasquez Hurst Sotos syndrome (C536533)
..Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome (C567292)
..Wilson-Turner X-linked mental retardation syndrome (C536708)
..Young Hughes syndrome (C536715)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9201

Name:

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)

Alternative IDs:

OMIM:176270

ParentIDs:

MESH:D000015|MESH:D008607|MESH:D009765|MESH:D025063

TreeNumbers:

C10.597.606.643.690 |C16.131.077.730 |C16.131.260.700 |C16.320.180.700 |C18.654.726.500.740

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Nutrition disorder

Reference:

MedGen: D011218
MeSH: D011218
OMIM: 176270;

Genes: NDN; SNRPN;

Phenotypes

1	HP:0012743	Abdominal obesity
2	HP:0000846	Adrenal insufficiency	HP:0040284
3	HP:0007874	Almond-shaped palpebral fissure	HP:0040282
4	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282
5	HP:0000717	Autism	HP:0040284
6	HP:0000670	Carious teeth	HP:0040283
7	HP:0030084	Clinodactyly
8	HP:0000060	Clitoral hypoplasia	HP:0040282
9	HP:0000028	Cryptorchidism	HP:0040284
10	HP:0000992	Cutaneous photosensitivity	HP:0040282
11	HP:0001558	Decreased fetal movement
12	HP:0003199	Decreased muscle mass	HP:0040282
13	HP:0000824	Decreased response to growth hormone stimulation test	HP:0040281
14	HP:0000823	Delayed puberty	HP:0040282
15	HP:0000750	Delayed speech and language development	HP:0040281
16	HP:0000268	Dolichocephaly
17	HP:0002714	Downturned corners of mouth	HP:0040282
18	HP:0000565	Esotropia	HP:0040283
19	HP:0001531	Failure to thrive in infancy	HP:0040281
20	HP:0002236	Frontal upsweep of hair	HP:0040283
21	HP:0007513	Generalized hypopigmentation
22	HP:0001290	Generalized hypotonia	HP:0040281
23	HP:0001263	Global developmental delay	HP:0040281
24	HP:0001385	Hip dysplasia	HP:0040284
25	HP:0000842	Hyperinsulinemia
26	HP:0000540	Hypermetropia
27	HP:0000044	Hypogonadotropic hypogonadism	HP:0040281
28	HP:0005599	Hypopigmentation of hair	HP:0040284
29	HP:0000064	Hypoplastic labia minora	HP:0040282
30	HP:0002791	Hypoventilation
31	HP:0007328	Impaired pain sensation	HP:0040282
32	HP:0000789	Infertility	HP:0040281
33	HP:0007730	Iris hypopigmentation	HP:0040284
34	HP:0002808	Kyphosis	HP:0040282
35	HP:0000054	Micropenis	HP:0040282
36	HP:0001270	Motor delay	HP:0040281
37	HP:0000545	Myopia	HP:0040283
38	HP:0000341	Narrow forehead	HP:0040282
39	HP:0000446	Narrow nasal bridge	HP:0040282
40	HP:0004283	Narrow palm	HP:0040281
41	HP:0001611	Nasal speech	HP:0040282
42	HP:0000876	Oligomenorrhea	HP:0040282
43	HP:0000938	Osteopenia	HP:0040283
44	HP:0000939	Osteoporosis	HP:0040283
45	HP:0002591	Polyphagia	HP:0040281
46	HP:0007010	Poor fine motor coordination	HP:0040283
47	HP:0007015	Poor gross motor coordination
48	HP:0002033	Poor suck	HP:0040281
49	HP:0000826	Precocious puberty	HP:0040284
50	HP:0000786	Primary amenorrhea	HP:0040284
51	HP:0000709	Psychosis	HP:0040284
52	HP:0009466	Radial deviation of finger	HP:0040283
53	HP:0002205	Recurrent respiratory infections	HP:0040282
54	HP:0002650	Scoliosis	HP:0040282
55	HP:0000046	Scrotal hypoplasia	HP:0040284
56	HP:0001250	Seizure	HP:0040284
57	HP:0001773	Short foot	HP:0040281
58	HP:0004279	Short palm	HP:0040281
59	HP:0004322	Short stature	HP:0040281
60	HP:0010535	Sleep apnea	HP:0040282
61	HP:0200055	Small hand
62	HP:0001328	Specific learning disability	HP:0040281
63	HP:0003745	Sporadic
64	HP:0001159	Syndactyly	HP:0040283
65	HP:0005968	Temperature instability	HP:0040283
66	HP:0000219	Thin upper lip vermilion	HP:0040282
67	HP:0000219	Thin upper lip vermilion
68	HP:0005978	Type II diabetes mellitus	HP:0040284
69	HP:0000582	Upslanted palpebral fissure	HP:0040283
70	HP:0002119	Ventriculomegaly	HP:0040282

Disease Causing ClinVar Variants