SHFYNG
MCID: SCH071
MIFTS: 54
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Schaaf-Yang Syndrome (SHFYNG)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Schaaf-Yang Syndrome:
Characteristics:Orphanet epidemiological data:58
magel2-related prader-willi-like syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;
prader-willi-like syndrome
Age of onset: Neonatal; OMIM:56
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:31
schaaf-yang syndrome:
Inheritance autosomal dominant inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Reproductive diseases Endocrine diseases Mental diseases
ICD10:
33
Orphanet: 58
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OMIM :
56
SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, impaired intellectual development, 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. Some patients may have central endocrine abnormalities, such as growth hormone deficiency or hypothyroidism. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene. Some of the features overlap with those observed in Prader-Will syndrome (PWS; 176270) (summary by Fountain et al., 2017; Jobling et al., 2018). (615547)
MalaCards based summary : Schaaf-Yang Syndrome, also known as prader-willi-like syndrome, is related to prader-willi syndrome and constipation, and has symptoms including constipation An important gene associated with Schaaf-Yang Syndrome is MAGEL2 (MAGE Family Member L2), and among its related pathways/superpathways is Interleukin-4 and 13 signaling. Affiliated tissues include eye, skin and pituitary, and related phenotypes are global developmental delay and neonatal hypotonia Disease Ontology : 12 A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has material basis in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. NIH Rare Diseases : 52 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. KEGG : 36 Schaaf-Yang syndrome is a Prader-Willi-like disease [DS:H00478], manifesting developmental delay, intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder. It has been reported that truncating mutations in MAGEL2, which is located in the Prader-Willi critical region 15q11-13, cause this disease. UniProtKB/Swiss-Prot : 73 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. |
Human phenotypes related to Schaaf-Yang Syndrome:58 31 (show top 50) (show all 120)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615547UMLS symptoms related to Schaaf-Yang Syndrome:constipation MGI Mouse Phenotypes related to Schaaf-Yang Syndrome:45
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Interventional clinical trials:
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MalaCards organs/tissues related to Schaaf-Yang Syndrome:40
Eye,
Skin,
Pituitary,
Bone,
Brain,
Testes
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Articles related to Schaaf-Yang Syndrome:(show all 50)
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ClinVar genetic disease variations for Schaaf-Yang Syndrome:6 (show all 26)
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Search
GEO
for disease gene expression data for Schaaf-Yang Syndrome.
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Cellular components related to Schaaf-Yang Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Schaaf-Yang Syndrome according to GeneCards Suite gene sharing:(show all 16)
Molecular functions related to Schaaf-Yang Syndrome according to GeneCards Suite gene sharing:
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