SHFYNG
MCID: SCH071
MIFTS: 53

Schaaf-Yang Syndrome (SHFYNG)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Schaaf-Yang Syndrome

MalaCards integrated aliases for Schaaf-Yang Syndrome:

Name: Schaaf-Yang Syndrome 57 12 25 20 58 72 36 29 6 15 39
Prader-Willi-Like Syndrome 57 20 58 72 70
Magel2-Related Prader-Willi-Like Syndrome 12 20 58
Chitayat-Hall Syndrome 57 25 72
Magel2-Related Pwls 12 20 58
Shfyng 57 12 72
Pwls 57 12 72
Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies 57 72
Prader-Willi Syndrome Due to a Point Mutation 20
Prader-Willi Syndrome Due to Point Mutation 20
Prader-Willi-Like Syndrome; Pwls 57
Pws Due to a Point Mutation 20
Pws Due to Point Mutation 20
Pws-Like 58

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®:

57 (Updated 05-Apr-2021)
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


GeneReviews:

25
Penetrance Penetrance is considered to be 100% for individuals with a pathogenic magel2 variant on their paternal allele, regardless of the affected individual's gender (i.e., all should display symptoms associated with sys). individuals with a pathogenic magel2 variant on their maternal allele will be unaffected.

Classifications:

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


Summaries for Schaaf-Yang Syndrome

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Schaaf-Yang Syndrome, also known as prader-willi-like syndrome, is related to autism spectrum disorder 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 are Interleukin-4 and 13 signaling and Trk receptor signaling mediated by the MAPK pathway. Affiliated tissues include eye, pituitary and brain, and related phenotypes are abnormal facial shape 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.

GARD : 20 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 : 72 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.

GeneReviews: NBK567492

Related Diseases for Schaaf-Yang Syndrome

Diseases related to Schaaf-Yang Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 30.0 SNRPN OPRM1 NDN MAGEL2 CACNA1H
2 constipation 29.9 TRPV1 OPRM1 NALCN
3 prader-willi syndrome 29.9 USP7 TRIM27 SNRPN SIM1 NPAP1 NDN
4 leptin deficiency or dysfunction 29.8 SNRPN SIM1 NPAP1 MAGEL2
5 angelman syndrome 29.6 SNRPN NPAP1 NDN MAGEL2 ENSG00000202498
6 6q16 microdeletion syndrome 11.4
7 sim1-related prader-willi-like syndrome 11.4
8 distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies 11.3
9 hypotonia 10.6
10 alacrima, achalasia, and mental retardation syndrome 10.6
11 sleep apnea 10.5
12 gastroesophageal reflux 10.3
13 hypogonadism 10.3
14 congenital amyoplasia 10.3
15 distal arthrogryposis 10.2
16 scoliosis 10.2
17 growth hormone deficiency 10.2
18 strabismus 10.1
19 wolf-hirschhorn syndrome 10.1
20 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
21 microcephaly 10.1
22 mechanical strabismus 10.1
23 colpocephaly 10.1
24 pachygyria 10.1
25 body mass index quantitative trait locus 11 10.1
26 body mass index quantitative trait locus 9 10.1
27 body mass index quantitative trait locus 8 10.1
28 bone mineral density quantitative trait locus 3 10.1
29 body mass index quantitative trait locus 4 10.1
30 body mass index quantitative trait locus 10 10.1
31 body mass index quantitative trait locus 7 10.1
32 body mass index quantitative trait locus 12 10.1
33 body mass index quantitative trait locus 14 10.1
34 obesity, hyperphagia, and developmental delay 10.1
35 bone mineral density quantitative trait locus 17 10.1
36 body mass index quantitative trait locus 18 10.1
37 hyperprolactinemia 10.1
38 body mass index quantitative trait locus 19 10.1
39 intestinal pseudo-obstruction 10.1
40 respiratory failure 10.1
41 hypothyroidism 10.1
42 sleep disorder 10.1
43 hypopituitarism 10.1
44 infantile hypotonia 10.1
45 fragile x syndrome 10.1
46 body mass index quantitative trait locus 3 10.1
47 chromosome xq duplication 10.1
48 uniparental disomy of chromosome 14 10.1
49 maternal uniparental disomy 10.1
50 cold-induced sweating syndrome including crisponi syndrome 10.1 CRLF1 CLCF1

Graphical network of the top 20 diseases related to Schaaf-Yang Syndrome:



Diseases related to Schaaf-Yang Syndrome

Symptoms & Phenotypes for Schaaf-Yang Syndrome

Human phenotypes related to Schaaf-Yang Syndrome:

58 31 (show top 50) (show all 145)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0001999
2 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
3 flexion contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0001371
4 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
5 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000028
6 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
7 motor delay 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001270
8 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0002119
9 infertility 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000789
10 poor suck 58 31 hallmark (90%) Very frequent (99-80%) HP:0002033
11 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
12 failure to thrive 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001508
13 scoliosis 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002650
14 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
15 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
16 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002205
17 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
18 short stature 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0004322
19 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
20 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
21 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
22 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001256
23 strabismus 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000486
24 primary amenorrhea 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000786
25 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
26 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
27 decreased fetal movement 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001558
28 small hand 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0200055
29 decreased testicular size 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0008734
30 short foot 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001773
31 scrotal hypoplasia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000046
32 intellectual disability, borderline 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0006889
33 weak cry 58 31 frequent (33%) Frequent (79-30%) HP:0001612
34 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
35 autistic behavior 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000729
36 abnormal temper tantrums 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0025160
37 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
38 clitoral hypoplasia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000060
39 polyphagia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002591
40 hypoplastic labia minora 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000064
41 anterior pituitary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0010627
42 temperature instability 58 31 frequent (33%) Frequent (79-30%) HP:0005968
43 central adrenal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0011734
44 absence of pubertal development 58 31 frequent (33%) Frequent (79-30%) HP:0008197
45 hypothalamic luteinizing hormone-releasing hormone deficiency 58 31 frequent (33%) Frequent (79-30%) HP:0012287
46 small pituitary gland 58 31 frequent (33%) Frequent (79-30%) HP:0012506
47 chronic constipation 58 31 frequent (33%) Frequent (79-30%) HP:0012450
48 parietal cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012104
49 nasogastric tube feeding 58 31 frequent (33%) Frequent (79-30%) HP:0040288
50 perisylvian polymicrogyria 58 31 frequent (33%) Frequent (79-30%) HP:0012650

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
frontal bossing
retrognathia
micrognathia
high forehead
myopathic facies
more
Head And Neck Eyes:
ptosis
nystagmus
hypertelorism
strabismus
myopia
more
Neurologic Central Nervous System:
sleep apnea
absent speech
inability to walk
hypotonia
seizures (in some patients)
more
Growth Height:
short stature

Head And Neck Mouth:
cleft palate
open mouth
thin upper lip
thick lips

Head And Neck Ears:
low-set ears

Growth Weight:
obesity
excessive weight gain after neonatal period (in some patients)

Skeletal Hands:
brachydactyly
camptodactyly
clinodactyly
small hands
tapering fingers
more
Skeletal:
joint contractures
decreased bone mineral density
arthrogryposis (in some patients)

Respiratory:
respiratory insufficiency, neonatal

Skeletal Spine:
scoliosis
kyphosis

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
poor feeding in infancy
hyperphagia later (in some patients)

Head And Neck Nose:
depressed nasal bridge
prominent nasal bridge
broad nasal root
abnormal nose structure

Endocrine Features:
hypoglycemia
growth hormone deficiency
hypothyroidism (in some patients)
hypogonadism (in some patients)
glucose intolerance (in some patients)

Genitourinary External Genitalia Male:
cryptorchidism
micropenis

Neurologic Behavioral Psychiatric Manifestations:
anxiety
hyperactivity
impulsivity
autistic features
automutilation
more
Growth Other:
failure to thrive in infancy

Prenatal Manifestations Movement:
decreased fetal movement
fetal akinesia (in some patients)

Skeletal Feet:
rocker-bottom feet
small feet

Head And Neck Head:
prominent ridge over the metopic suture

Clinical features from OMIM®:

615547 (Updated 05-Apr-2021)

UMLS symptoms related to Schaaf-Yang Syndrome:


constipation

MGI Mouse Phenotypes related to Schaaf-Yang Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 CACNA1H CLCF1 CRLF1 FOS MAGEL2 NALCN
2 adipose tissue MP:0005375 9.63 FOS MAGEL2 OPRM1 SIM1 SNRPN TRPV1
3 nervous system MP:0003631 9.36 CACNA1H CLCF1 CRLF1 FOS MAGEL2 NALCN

Drugs & Therapeutics for Schaaf-Yang Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of a Family-based Pediatric Obesity Program: TEENS+ Completed NCT02262013
2 Innovative Approaches to Adolescent Obesity Treatment: Exploring the Role of Parents Completed NCT02586090

Search NIH Clinical Center for Schaaf-Yang Syndrome

Genetic Tests for Schaaf-Yang Syndrome

Genetic tests related to Schaaf-Yang Syndrome:

# Genetic test Affiliating Genes
1 Schaaf-Yang Syndrome 29 MAGEL2

Anatomical Context for Schaaf-Yang Syndrome

MalaCards organs/tissues related to Schaaf-Yang Syndrome:

40
Eye, Pituitary, Brain, Bone

Publications for Schaaf-Yang Syndrome

Articles related to Schaaf-Yang Syndrome:

(show top 50) (show all 61)
# Title Authors PMID Year
1
MAGEL2-related disorders: A study and case series. 57 6 61 25
31397880 2019
2
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders. 61 6 57 25
29599419 2018
3
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. 61 6 57 25
28281571 2017
4
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. 6 25 57 61
27195816 2017
5
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. 61 25 57 6
26365340 2015
6
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 25 57 6
25473036 2014
7
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 25 6 57
24076603 2013
8
Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. 25 61 57
29496979 2018
9
Clinical phenotypes of MAGEL2 mutations and deletions. 57 25
24661356 2014
10
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. 57 25
19066619 2009
11
Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs. 25 57
2240046 1990
12
A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism. 61 57
30323850 2018
13
The adult phenotype of Schaaf-Yang syndrome. 61 25
33076953 2020
14
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy. 61 25
31791363 2019
15
mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome. 25 61
31685878 2019
16
Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation. 61 25
31152388 2019
17
Schaaf-Yang syndrome overview: Report of 78 individuals. 61 25
30302899 2018
18
Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2. 61 25
28626083 2017
19
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
20
Chitayat-Hall syndrome: extending the clinical phenotype. 57
24326959 2013
21
A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene. 57
20876615 2010
22
Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome. 57
17728320 2007
23
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
24
Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome. 25
27777904 2016
25
Schaaf-Yang Syndrome 61
33570896 2021
26
The impact of oxytocin on neurite outgrowth and synaptic proteins in Magel2-deficient mice. 61
33609001 2021
27
Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia. 61
33371171 2020
28
Polysomnographic characteristics and sleep-disordered breathing in Schaaf-Yang syndrome. 61
32889788 2020
29
Severe early onset obesity and hypopituitarism in a child with a novel SIM1 gene mutation. 61
33434169 2020
30
Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome. 61
30343463 2020
31
Phenotypic spectrum and genetic analysis in the fatal cases of Schaaf-Yang syndrome: Two case reports and literature review. 61
32702813 2020
32
A MAGEL2-deubiquitinase complex modulates the ubiquitination of circadian rhythm protein CRY1. 61
32315313 2020
33
Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes. 61
32804975 2020
34
A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth. 61
32021601 2020
35
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. 61
31497877 2020
36
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis. 61
31504653 2019
37
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses. 61
30859550 2019
38
[Schaaf-Yang syndrome caused by the new variation of MAGEL2 gene in a case]. 61
30695895 2019
39
Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity. 61
30347474 2019
40
The role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation. 61
30238631 2018
41
Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum. 61
29660409 2018
42
Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene. 61
29389715 2018
43
Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2. 61
29588991 2018
44
Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities. 61
29359444 2018
45
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea. 61
29581464 2018
46
First Case Report of Prader-Willi-Like Syndrome in Colombia. 61
29619043 2018
47
Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty. 61
28296079 2017
48
CORRIGENDUM: The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. 61
27684311 2016
49
Muscle dysfunction caused by loss of Magel2 in a mouse model of Prader-Willi and Schaaf-Yang syndromes. 61
27436578 2016
50
Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl. 61
27014449 2016

Variations for Schaaf-Yang Syndrome

ClinVar genetic disease variations for Schaaf-Yang Syndrome:

6 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAGEL2 NM_019066.5(MAGEL2):c.1652del (p.Val551fs) Deletion Pathogenic 89000 rs398122415 GRCh37: 15:23891238-23891238
GRCh38: 15:23646091-23646091
2 MAGEL2 NM_019066.5(MAGEL2):c.1802del (p.Pro601fs) Deletion Pathogenic 89001 rs398122416 GRCh37: 15:23891088-23891088
GRCh38: 15:23645941-23645941
3 MAGEL2 NM_019066.5(MAGEL2):c.3179_3180AT[1] (p.Ile1061fs) Microsatellite Pathogenic 89002 rs398122417 GRCh37: 15:23889708-23889709
GRCh38: 15:23644561-23644562
4 MAGEL2 NM_019066.5(MAGEL2):c.3208G>T (p.Glu1070Ter) SNV Pathogenic 224132 rs869312694 GRCh37: 15:23889682-23889682
GRCh38: 15:23644535-23644535
5 MAGEL2 NM_019066.5(MAGEL2):c.2958del (p.Ser987fs) Deletion Pathogenic 403667 rs1060499934 GRCh37: 15:23889932-23889932
GRCh38: 15:23644785-23644785
6 MAGEL2 NM_019066.5(MAGEL2):c.1996del (p.Gln666fs) Deletion Pathogenic 440463 rs770374710 GRCh37: 15:23890894-23890894
GRCh38: 15:23645747-23645747
7 MAGEL2 NM_019066.5(MAGEL2):c.2118del (p.Leu708fs) Deletion Pathogenic 440464 rs1555374227 GRCh37: 15:23890772-23890772
GRCh38: 15:23645625-23645625
8 MAGEL2 NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) SNV Pathogenic 208684 rs797044883 GRCh37: 15:23890978-23890978
GRCh38: 15:23645831-23645831
9 MAGEL2 NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) SNV Pathogenic 208684 rs797044883 GRCh37: 15:23890978-23890978
GRCh38: 15:23645831-23645831
10 MAGEL2 NM_019066.5(MAGEL2):c.188dup (p.Ala64fs) Duplication Pathogenic 692038 rs1595334203 GRCh37: 15:23892701-23892702
GRCh38: 15:23647554-23647555
11 MAGEL2 NM_019066.5(MAGEL2):c.2199del (p.Glu734fs) Deletion Pathogenic 803054 rs1595332359 GRCh37: 15:23890691-23890691
GRCh38: 15:23645544-23645544
12 MAGEL2 NM_019066.5(MAGEL2):c.3246del (p.Asn1084fs) Deletion Pathogenic 816928 rs1595331427 GRCh37: 15:23889644-23889644
GRCh38: 15:23644497-23644497
13 MAGEL2 NM_019066.5(MAGEL2):c.1613C>A (p.Ala538Glu) SNV Pathogenic 870506 GRCh37: 15:23891277-23891277
GRCh38: 15:23646130-23646130
14 MAGEL2 NM_019066.5(MAGEL2):c.3124C>T (p.Gln1042Ter) SNV Pathogenic 89003 rs398122418 GRCh37: 15:23889766-23889766
GRCh38: 15:23644619-23644619
15 MAGEL2 NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) Duplication Pathogenic 190122 rs770374710 GRCh37: 15:23890893-23890894
GRCh38: 15:23645746-23645747
16 MAGEL2 NM_019066.5(MAGEL2):c.1761G>A (p.Trp587Ter) SNV Pathogenic 548682 rs1566784441 GRCh37: 15:23891129-23891129
GRCh38: 15:23645982-23645982
17 MAGEL2 NM_019066.5(MAGEL2):c.1762C>T (p.Gln588Ter) SNV Pathogenic 548683 rs866419580 GRCh37: 15:23891128-23891128
GRCh38: 15:23645981-23645981
18 MAGEL2 NM_019066.5(MAGEL2):c.3449_3450del (p.Phe1150fs) Deletion Pathogenic 1032058 GRCh37: 15:23889440-23889441
GRCh38: 15:23644293-23644294
19 MAGEL2 NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter) SNV Pathogenic/Likely pathogenic 440466 rs1555374290 GRCh37: 15:23891269-23891269
GRCh38: 15:23646122-23646122
20 MAGEL2 NM_019066.5(MAGEL2):c.1808C>G (p.Ser603Ter) SNV Likely pathogenic 974880 GRCh37: 15:23891082-23891082
GRCh38: 15:23645935-23645935
21 MAGEL2 NM_019066.5(MAGEL2):c.1715C>T (p.Ala572Val) SNV Uncertain significance 425062 rs1064797195 GRCh37: 15:23891175-23891175
GRCh38: 15:23646028-23646028
22 MAGEL2 NM_019066.5(MAGEL2):c.1468C>G (p.Pro490Ala) SNV Uncertain significance 973315 GRCh37: 15:23891422-23891422
GRCh38: 15:23646275-23646275
23 MAGEL2 NM_019066.5(MAGEL2):c.494C>T (p.Pro165Leu) SNV Uncertain significance 983128 GRCh37: 15:23892396-23892396
GRCh38: 15:23647249-23647249
24 MAGEL2 NM_019066.5(MAGEL2):c.353C>T (p.Pro118Leu) SNV Uncertain significance 430473 rs1131691985 GRCh37: 15:23892537-23892537
GRCh38: 15:23647390-23647390
25 MAGEL2 NM_019066.5(MAGEL2):c.1145_1147dup (p.Gln383_Ala384insArg) Duplication Uncertain significance 1028137 GRCh37: 15:23891742-23891743
GRCh38: 15:23646595-23646596
26 MAGEL2 NM_019066.5(MAGEL2):c.1188G>A (p.Trp396Ter) SNV Uncertain significance 1028138 GRCh37: 15:23891702-23891702
GRCh38: 15:23646555-23646555
27 MAGEL2 NM_019066.5(MAGEL2):c.1276G>A (p.Gly426Ser) SNV Uncertain significance 1028139 GRCh37: 15:23891614-23891614
GRCh38: 15:23646467-23646467
28 MAGEL2 NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu) SNV Uncertain significance 1028140 GRCh37: 15:23891250-23891250
GRCh38: 15:23646103-23646103
29 MAGEL2 NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr) SNV Uncertain significance 1028141 GRCh37: 15:23890918-23890918
GRCh38: 15:23645771-23645771
30 MAGEL2 NM_019066.5(MAGEL2):c.2839G>C (p.Glu947Gln) SNV Uncertain significance 1028142 GRCh37: 15:23890051-23890051
GRCh38: 15:23644904-23644904
31 MAGEL2 NM_019066.5(MAGEL2):c.877G>A (p.Gly293Ser) SNV Uncertain significance 1028143 GRCh37: 15:23892013-23892013
GRCh38: 15:23646866-23646866
32 SIM1 NM_005068.2(SIM1):c.-200del Deletion Uncertain significance 354690 rs146022425 GRCh37: 6:100911544-100911544
GRCh38: 6:100463668-100463668
33 SIM1 NM_005068.2(SIM1):c.743+10C>G SNV Uncertain significance 354685 rs886060897 GRCh37: 6:100896345-100896345
GRCh38: 6:100448469-100448469
34 SIM1 NM_005068.2(SIM1):c.*1451_*1452dupTG Microsatellite Uncertain significance 354662 rs886060892 GRCh37: 6:100836784-100836785
GRCh38: 6:100388908-100388909
35 SIM1 NM_005068.2(SIM1):c.*1484T>C SNV Uncertain significance 354660 rs886060891 GRCh37: 6:100836753-100836753
GRCh38: 6:100388877-100388877
36 MAGEL2 NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln) SNV Uncertain significance 193415 rs199772480 GRCh37: 15:23890230-23890230
GRCh38: 15:23645083-23645083
37 MAGEL2 NM_019066.5(MAGEL2):c.2170_2232dup (p.Ser724_Ala744dup) Duplication Uncertain significance 599395 rs1566784117 GRCh37: 15:23890657-23890658
GRCh38: 15:23645510-23645511
38 MAGEL2 NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) SNV Likely benign 193399 rs138628273 GRCh37: 15:23889873-23889873
GRCh38: 15:23644726-23644726
39 MAGEL2 NM_019066.5(MAGEL2):c.1601del (p.Pro534fs) Deletion not provided 973031 GRCh37: 15:23891289-23891289
GRCh38: 15:23646142-23646142

Expression for Schaaf-Yang Syndrome

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

Pathways for Schaaf-Yang Syndrome

Pathways related to Schaaf-Yang Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.86 OPRM1 NDN FOS
2
Show member pathways
10.45 TRPV1 FOS

GO Terms for Schaaf-Yang Syndrome

Cellular components related to Schaaf-Yang Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.46 TRPV1 OPRM1 FOS CACNA1H
2 retromer complex GO:0030904 8.96 TRIM27 MAGEL2
3 CRLF-CLCF1 complex GO:0097058 8.62 CRLF1 CLCF1

Biological processes related to Schaaf-Yang Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to hormone stimulus GO:0032870 9.37 FOS CACNA1H
2 sensory perception of pain GO:0019233 9.33 TRPV1 OPRM1 NDN
3 regulation of DNA-binding transcription factor activity GO:0051090 9.32 USP7 FOS
4 Arp2/3 complex-mediated actin nucleation GO:0034314 9.26 TRIM27 MAGEL2
5 calcium ion transmembrane transport GO:0070588 9.26 TRPV1 OPRM1 NALCN CACNA1H
6 cytokine-mediated signaling pathway GO:0019221 9.02 OPRM1 NDN FOS CRLF1 CLCF1

Molecular functions related to Schaaf-Yang Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.33 TRPV1 NALCN CACNA1H
2 ciliary neurotrophic factor receptor binding GO:0005127 8.96 CRLF1 CLCF1
3 cation channel activity GO:0005261 8.8 TRPV1 NALCN CACNA1H

Sources for Schaaf-Yang Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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