Sim1-Related Prader-Willi-Like Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases Metabolic diseases
Anatomical: Neuronal diseases Reproductive diseases Endocrine diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

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

Sources

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

Sources

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

Diseases in the Prader-Willi Syndrome family:

Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2
Sim1-Related Prader-Willi-Like Syndrome	Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion

Sources

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

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

⁵⁸ (showing 64, show less)

#	Description	Orphanet Frequency
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%)
51	abnormal rapid eye movement sleep ⁵⁸	Occasional (29-5%)
52	infantile muscular hypotonia ⁵⁸	Very frequent (99-80%)
53	external genital hypoplasia ⁵⁸	Frequent (79-30%)
54	central sleep apnea ⁵⁸	Occasional (29-5%)
55	absence of pubertal development ⁵⁸	Frequent (79-30%)
56	skin-picking ⁵⁸	Frequent (79-30%)
57	abdominal obesity ⁵⁸	Frequent (79-30%)
58	central hypothyroidism ⁵⁸	Occasional (29-5%)
59	hypothalamic luteinizing hormone-releasing hormone deficiency ⁵⁸	Frequent (79-30%)
60	small pituitary gland ⁵⁸	Frequent (79-30%)
61	premature pubarche ⁵⁸	Occasional (29-5%)
62	nasogastric tube feeding ⁵⁸	Frequent (79-30%)
63	chorioretinal hypopigmentation ⁵⁸	Occasional (29-5%)
64	confusional arousal ⁵⁸	Occasional (29-5%)

Sources

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

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

Sources

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

Sources

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

Sources

Publications for Sim1-Related Prader-Willi-Like Syndrome

Sources

Genes for Sim1-Related Prader-Willi-Like Syndrome

Genes related to Sim1-Related Prader-Willi-Like Syndrome (1 elite genes):

(showing 1, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SIM1	SIM BHLH Transcription Factor 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸

Sources

Variations for Sim1-Related Prader-Willi-Like Syndrome

Sources

Expression for Sim1-Related Prader-Willi-Like Syndrome

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

Sources

Pathways for Sim1-Related Prader-Willi-Like Syndrome

Sources

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

Sources

Sources for Sim1-Related Prader-Willi-Like Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia