MCID: SM1001
MIFTS: 14

Sim1-Related Prader-Willi-Like Syndrome

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

Aliases & Classifications for Sim1-Related Prader-Willi-Like Syndrome

MalaCards integrated aliases for Sim1-Related Prader-Willi-Like Syndrome:

Name: Sim1-Related Prader-Willi-Like Syndrome 58
Sim1-Related Pwls 58

Characteristics:

Orphanet epidemiological data:

58
sim1-related prader-willi-like syndrome
Prevalence: <1/1000000 (Worldwide);

Classifications:

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


External Ids:

ICD10 via Orphanet 33 Q87.1
Orphanet 58 ORPHA398079

Summaries for Sim1-Related Prader-Willi-Like Syndrome

MalaCards based summary : Sim1-Related Prader-Willi-Like Syndrome, is also known as sim1-related pwls. An important gene associated with Sim1-Related Prader-Willi-Like Syndrome is SIM1 (SIM BHLH Transcription Factor 1). Affiliated tissues include skin, eye and brain, and related phenotypes are intellectual disability and type ii diabetes mellitus

Related Diseases for Sim1-Related Prader-Willi-Like Syndrome

Symptoms & Phenotypes for Sim1-Related Prader-Willi-Like Syndrome

Human phenotypes related to Sim1-Related Prader-Willi-Like Syndrome:

58 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 Frequent (79-30%)
2 type ii diabetes mellitus 58 Occasional (29-5%)
3 behavioral abnormality 58 Frequent (79-30%)
4 hip dysplasia 58 Occasional (29-5%)
5 scoliosis 58 Frequent (79-30%)
6 recurrent respiratory infections 58 Occasional (29-5%)
7 delayed speech and language development 58 Frequent (79-30%)
8 seizures 58 Occasional (29-5%)
9 abnormal facial shape 58 Very frequent (99-80%)
10 neonatal hypotonia 58 Frequent (79-30%)
11 failure to thrive 58 Frequent (79-30%)
12 strabismus 58 Frequent (79-30%)
13 xerostomia 58 Occasional (29-5%)
14 cryptorchidism 58 Very frequent (99-80%)
15 osteopenia 58 Occasional (29-5%)
16 osteoporosis 58 Occasional (29-5%)
17 primary amenorrhea 58 Frequent (79-30%)
18 specific learning disability 58 Frequent (79-30%)
19 obesity 58 Very frequent (99-80%)
20 neurodevelopmental delay 58 Frequent (79-30%)
21 hypogonadotrophic hypogonadism 58 Frequent (79-30%)
22 reduced tendon reflexes 58 Frequent (79-30%)
23 motor delay 58 Very frequent (99-80%)
24 hypopigmentation of hair 58 Occasional (29-5%)
25 downturned corners of mouth 58 Occasional (29-5%)
26 micropenis 58 Occasional (29-5%)
27 thin upper lip vermilion 58 Occasional (29-5%)
28 ventriculomegaly 58 Frequent (79-30%)
29 precocious puberty 58 Occasional (29-5%)
30 psychosis 58 Occasional (29-5%)
31 small hand 58 Frequent (79-30%)
32 narrow nasal bridge 58 Occasional (29-5%)
33 decreased testicular size 58 Frequent (79-30%)
34 infertility 58 Very frequent (99-80%)
35 lethargy 58 Occasional (29-5%)
36 short foot 58 Frequent (79-30%)
37 scrotal hypoplasia 58 Frequent (79-30%)
38 weak cry 58 Frequent (79-30%)
39 hypogonadism 58 Very frequent (99-80%)
40 autistic behavior 58 Frequent (79-30%)
41 premature adrenarche 58 Occasional (29-5%)
42 abnormal temper tantrums 58 Frequent (79-30%)
43 obstructive sleep apnea 58 Occasional (29-5%)
44 brain imaging abnormality 58 Frequent (79-30%)
45 almond-shaped palpebral fissure 58 Occasional (29-5%)
46 impaired temperature sensation 58 Occasional (29-5%)
47 clitoral hypoplasia 58 Frequent (79-30%)
48 hypopigmentation of the skin 58 Occasional (29-5%)
49 polyphagia 58 Frequent (79-30%)
50 hypoplastic labia minora 58 Frequent (79-30%)

Drugs & Therapeutics for Sim1-Related Prader-Willi-Like Syndrome

Search Clinical Trials , NIH Clinical Center for Sim1-Related Prader-Willi-Like Syndrome

Genetic Tests for Sim1-Related Prader-Willi-Like Syndrome

Anatomical Context for Sim1-Related Prader-Willi-Like Syndrome

MalaCards organs/tissues related to Sim1-Related Prader-Willi-Like Syndrome:

40
Skin, Eye, Brain, Pituitary

Publications for Sim1-Related Prader-Willi-Like Syndrome

Variations for Sim1-Related Prader-Willi-Like Syndrome

Expression for Sim1-Related Prader-Willi-Like Syndrome

Search GEO for disease gene expression data for Sim1-Related Prader-Willi-Like Syndrome.

Pathways for Sim1-Related Prader-Willi-Like Syndrome

GO Terms for Sim1-Related Prader-Willi-Like Syndrome

Sources for Sim1-Related Prader-Willi-Like Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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