MCID: PRD022
MIFTS: 20

Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

MalaCards integrated aliases for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1:

Name: Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

MalaCards based summary : Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 is related to esotropia and cryptorchidism, unilateral or bilateral. An important gene associated with Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 is MAGEL2 (MAGE Family Member L2). Affiliated tissues include pituitary, and related phenotypes are feeding difficulties in infancy and cryptorchidism

Related Diseases for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

Graphical network of the top 20 diseases related to Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1:



Diseases related to Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1

Symptoms & Phenotypes for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

Human phenotypes related to Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1:

58 31 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
2 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
3 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
4 ventriculomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002119
5 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
6 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
7 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
8 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
9 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
10 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
11 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
12 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
13 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
14 primary amenorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0000786
15 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
16 hypopigmentation of hair 58 31 frequent (33%) Frequent (79-30%) HP:0005599
17 abnormality of vision 58 31 frequent (33%) Frequent (79-30%) HP:0000504
18 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
19 psychosis 58 31 frequent (33%) Frequent (79-30%) HP:0000709
20 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
21 decreased testicular size 58 31 frequent (33%) Frequent (79-30%) HP:0008734
22 infertility 58 31 frequent (33%) Frequent (79-30%) HP:0000789
23 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
24 scrotal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000046
25 iris hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007730
26 hypopigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0001010
27 premature adrenarche 58 31 frequent (33%) Frequent (79-30%) HP:0012412
28 abnormal temper tantrums 58 31 frequent (33%) Frequent (79-30%) HP:0025160
29 almond-shaped palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0007874
30 clitoral hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000060
31 polyphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002591
32 hypoplastic labia minora 58 31 frequent (33%) Frequent (79-30%) HP:0000064
33 anterior pituitary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0010627
34 central adrenal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0011734
35 bulimia 58 31 frequent (33%) Frequent (79-30%) HP:0100739
36 central hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0011787
37 premature pubarche 58 31 frequent (33%) Frequent (79-30%) HP:0012411
38 speech articulation difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0009088
39 parietal cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012104
40 obsessive-compulsive trait 58 31 frequent (33%) Frequent (79-30%) HP:0008770
41 perisylvian polymicrogyria 58 31 frequent (33%) Frequent (79-30%) HP:0012650
42 skin-picking 58 31 frequent (33%) Frequent (79-30%) HP:0012166
43 decreased circulating gonadotropin level 58 31 frequent (33%) Frequent (79-30%) HP:0030339
44 occipital cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012105
45 hypotonia 31 frequent (33%) HP:0001252
46 hypogonadotropic hypogonadism 31 frequent (33%) HP:0000044
47 decreased response to growth hormone stimuation test 31 frequent (33%) HP:0000824
48 decreased circulating t4 level 31 frequent (33%) HP:0031507
49 osteopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000938
50 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385

Drugs & Therapeutics for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

Search Clinical Trials , NIH Clinical Center for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1

Genetic Tests for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

Anatomical Context for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

MalaCards organs/tissues related to Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1:

40
Pituitary

Publications for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

Variations for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

Expression for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

Search GEO for disease gene expression data for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1.

Pathways for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

GO Terms for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

Sources for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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