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SHFYNG
MCID: SCH071
MIFTS: 35
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Schaaf-Yang Syndrome (SHFYNG)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Schaaf-Yang Syndrome:
Characteristics:Orphanet epidemiological data:59
prader-willi syndrome due to a point mutation
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;
prader-willi-like syndrome
Age of onset: Neonatal; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy highly variable phenotype patients only affected if mutation occurs on the paternal allele some patients die in utero with fetal akinesia whereas others can live with disability HPO:32
schaaf-yang syndrome:
Onset and clinical course phenotypic variability infantile onset Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Reproductive diseases Endocrine diseases
ICD10:
34
Orphanet: 59
Rare neurological diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
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NIH Rare Diseases
:
53
Schaaf-Yang syndrome is a genetic condition that affects many parts of the body and is similar to Prader-Willi syndrome. Infants with this syndrome can have low muscle tone (hypotonia), feeding difficulties, developmental delay, intellectual disability, and autism spectrum disorder. They also typically have joint contractures, affecting the finger joints and sometimes the knees and elbows. This syndrome does not usually cause the high appetite seen in people with Prader-Willi syndrome. Schaaf-Yang syndrome is caused by a mutation in the MAGEL2 gene on chromosome 15. This syndrome is related to Prader-Willi syndrome because if MAGEL2 and several additional genes on chromosome 15 are missing or inactivated, then a person will develop Prader-Willi syndrome.
MalaCards based summary : Schaaf-Yang Syndrome, also known as prader-willi-like syndrome, is related to prader-willi syndrome and prader-willi-like syndrome due to a point mutation, and has symptoms including constipation An important gene associated with Schaaf-Yang Syndrome is MAGEL2 (MAGE Family Member L2). Affiliated tissues include skin and eye, and related phenotypes are obesity and high palate OMIM : 57 SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017) (615547) UniProtKB/Swiss-Prot : 75 Schaaf-Yang syndrome: A disease characterized by clinical features of Prader-Willi syndrome, including neonatal hypotonia with poor suck, feeding problems in infancy, obesity, developmental delay, short stature, and hypogonadism. Additionally, patients manifest autism spectrum disorder. Some patients have dysmorphic facial features. |
Diseases related to Schaaf-Yang Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Schaaf-Yang Syndrome:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615547Human phenotypes related to Schaaf-Yang Syndrome:59 32 (show top 50) (show all 62)
UMLS symptoms related to Schaaf-Yang Syndrome:constipation |
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MalaCards organs/tissues related to Schaaf-Yang Syndrome:41
Skin,
Eye
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Articles related to Schaaf-Yang Syndrome:(show all 13)
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Genes related to Schaaf-Yang Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Schaaf-Yang Syndrome:6 (show top 50) (show all 90)
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Search
GEO
for disease gene expression data for Schaaf-Yang Syndrome.
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