Schaaf-Yang Syndrome (SHFYNG)

External Ids:

Disease Ontology 12 DOID:0111715 OMIM 56 615547 KEGG 36 H02325 MeSH 43 D000015 SNOMED-CT 67 770680004

ICD10 via Orphanet 33 Q87.1 Orphanet 58 ORPHA398069 ORPHA398073 MedGen 41 C3809877 SNOMED-CT via HPO 68 109504005 111246005 111266001 11934000 128613002 14760008 16331000 16596007 17268007 203598005 204878001 205082007 205294008 205359003 224958001 225595004 22810007 228156007 230145002 235595009 237836003 246545002 246635007 246802000 247578003 248311001 249768009 262016004 263681008 267023007 267036007 271825005 27272007 282145008 29271008 299032009 313307000 33927004 34911001 36440009 385522000 397540003 399054005 399252000 401138005 414564002 414915002 414916001 432788009 43476002 48130008 55033002 57048009 57190000 58424009 64217002 698065002 72405004 73430006 77016009 78164000 7890003 7973008 84757009 88565003 90145001 91138005 91175000 95515009 more UMLS 71 C3809877

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.

Clinical features from OMIM:

615547

Search NIH Clinical Center for Schaaf-Yang Syndrome

Search GEO for disease gene expression data for Schaaf-Yang Syndrome.