SHFYNG
MCID: SCH071
MIFTS: 54

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 56 12 52 58 73 36 29 6 15 39
Prader-Willi-Like Syndrome 56 52 58 73 71
Magel2-Related Prader-Willi-Like Syndrome 12 52 58
Magel2-Related Pwls 12 52 58
Shfyng 56 12 73
Pwls 56 12 73
Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies 56
Prader-Willi Syndrome Due to a Point Mutation 52
Prader-Willi Syndrome Due to Point Mutation 52
Prader-Willi-Like Syndrome; Pwls 56
Pws Due to a Point Mutation 52
Pws Due to Point Mutation 52
Chitayat-Hall Syndrome 56
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:

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:

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 : 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.

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 84)
# Related Disease Score Top Affiliating Genes
1 prader-willi syndrome 29.7 USP7 TRIM27 SNRPN SIM1 NPAP1 NDN
2 constipation 29.5 TRPV1 OPRM1 OPRL1 OPRD1 NALCN
3 angelman syndrome 29.4 SNRPN NPAP1 NDN MAGEL2
4 autism spectrum disorder 29.0 SNRPN OPRM1 OPRL1 OPRD1 NDN MAGEL2
5 sim1-related prader-willi-like syndrome 12.7
6 6q16 microdeletion syndrome 11.7
7 hypotonia 10.7
8 alacrima, achalasia, and mental retardation syndrome 10.6
9 alkuraya-kucinskas syndrome 10.5
10 congenital amyoplasia 10.5
11 distal arthrogryposis 10.5
12 sleep apnea 10.5
13 growth hormone deficiency 10.5
14 autism 10.4
15 scoliosis 10.4
16 hypogonadism 10.4
17 hypopituitarism 10.4
18 strabismus 10.3
19 wolf-hirschhorn syndrome 10.3
20 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.3
21 microcephaly 10.3
22 mechanical strabismus 10.3
23 chromosome 4p deletion 10.3
24 colpocephaly 10.3
25 pachygyria 10.3
26 dental fluorosis 10.3
27 gastroesophageal reflux 10.2
28 body mass index quantitative trait locus 11 10.2
29 body mass index quantitative trait locus 9 10.2
30 body mass index quantitative trait locus 8 10.2
31 body mass index quantitative trait locus 4 10.2
32 body mass index quantitative trait locus 10 10.2
33 body mass index quantitative trait locus 7 10.2
34 body mass index quantitative trait locus 12 10.2
35 body mass index quantitative trait locus 14 10.2
36 obesity, hyperphagia, and developmental delay 10.2
37 leptin deficiency or dysfunction 10.2
38 bone mineral density quantitative trait locus 17 10.2
39 body mass index quantitative trait locus 18 10.2
40 hyperprolactinemia 10.2
41 body mass index quantitative trait locus 19 10.2
42 body mass index quantitative trait locus 20 10.2
43 intestinal pseudo-obstruction 10.2
44 hypothyroidism 10.2
45 distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies 10.2
46 infantile hypotonia 10.2
47 chronic cystitis 10.2 USP7 TRPV1
48 fragile x syndrome 10.2
49 body mass index quantitative trait locus 3 10.2
50 chromosome xq duplication 10.2

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 120)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001319
3 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001508
4 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0011968
5 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000028
6 micropenis 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0000054
7 polyphagia 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002591
8 amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000141
9 abdominal obesity 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0012743
10 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
11 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
12 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
13 short stature 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0004322
14 decreased muscle mass 58 31 frequent (33%) Frequent (79-30%) HP:0003199
15 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
16 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
17 myopia 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000545
18 open mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000194
19 small hand 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0200055
20 short foot 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001773
21 almond-shaped palpebral fissure 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0007874
22 acromesomelia 58 31 frequent (33%) Frequent (79-30%) HP:0003086
23 esotropia 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000565
24 exotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000577
25 narrow forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000341
26 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001249
27 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001371
28 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
29 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0010535
30 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000729
31 hyperinsulinemic hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000825
32 speech articulation difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0009088
33 skin-picking 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0012166
34 respiratory distress 31 occasional (7.5%) HP:0002098
35 seizure 31 occasional (7.5%) HP:0001250
36 fetal akinesia sequence 31 very rare (1%) HP:0001989
37 arthrogryposis multiplex congenita 31 very rare (1%) HP:0002804
38 scoliosis 58 31 Frequent (79-30%) HP:0002650
39 kyphosis 58 31 Frequent (79-30%) HP:0002808
40 gastroesophageal reflux 58 31 Frequent (79-30%) HP:0002020
41 obesity 58 31 Very frequent (99-80%) HP:0001513
42 hypogonadism 58 31 Frequent (79-30%) HP:0000135
43 impulsivity 58 31 Occasional (29-5%) HP:0100710
44 type ii diabetes mellitus 58 Occasional (29-5%)
45 behavioral abnormality 58 Occasional (29-5%),Frequent (79-30%)
46 hip dysplasia 58 Occasional (29-5%)
47 mandibular prognathia 31 HP:0000303
48 recurrent respiratory infections 58 Occasional (29-5%)
49 delayed speech and language development 58 Frequent (79-30%)
50 seizures 58 Occasional (29-5%),Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
prominent nasal bridge
broad nasal root
abnormal nose structure

Skeletal Spine:
scoliosis
kyphosis

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

Head And Neck Face:
frontal bossing
retrognathia
micrognathia
high forehead
myopathic facies
more
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

Head And Neck Eyes:
hypertelorism
nystagmus
strabismus
ptosis
myopia
more
Growth Height:
short stature

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

Neurologic Central Nervous System:
absent speech
sleep apnea
inability to walk
hypotonia
seizures (in some patients)
more
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

UMLS symptoms related to Schaaf-Yang Syndrome:


constipation

MGI Mouse Phenotypes related to Schaaf-Yang Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 CACNA1H CLCF1 FAM83G FOS FSCN1 MAGEL2
2 cellular MP:0005384 10.07 FOS FSCN1 MAGEL2 NDN OPRM1 SIM1
3 growth/size/body region MP:0005378 10.06 CACNA1H CLCF1 FAM83G FOS FSCN1 MAGEL2
4 homeostasis/metabolism MP:0005376 10.03 FOS MAGEL2 NALCN NDN OPRD1 OPRL1
5 adipose tissue MP:0005375 9.91 FOS MAGEL2 OPRM1 SIM1 SNRPN TRPV1
6 integument MP:0010771 9.76 FAM83G FOS FSCN1 NDN OPRD1 OPRL1
7 mortality/aging MP:0010768 9.73 CLCF1 FOS FSCN1 MAGEL2 NALCN NDN
8 nervous system MP:0003631 9.47 CACNA1H CLCF1 FOS FSCN1 MAGEL2 NALCN

Drugs & Therapeutics for Schaaf-Yang Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pictorial Warning Labels and Memory for Cigarette Health-risk Information Over Time Completed NCT03375840 Phase 3
2 Pictorial Warning Labels, Numeracy, and Memory for Numeric Cigarette Health-risk Information Over Time Completed NCT03501472
3 Pictorial Warning Labels and Memory for Relative and Absolute Cigarette Health-risk Information Over Time in Teens Completed NCT03500965
4 Pictorial Warning Labels & Memory for Relative & Absolute Cigarette Health-risk Information Over Time in Adult Smokers Completed NCT03499340
5 Assessing the Feasibility and Acceptability of a Parent-Based Intervention to Reduce the Risk of Obesity in Children of Weight Loss Surgery Patients Completed NCT04247113

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, Skin, Pituitary, Bone, Brain, Testes

Publications for Schaaf-Yang Syndrome

Articles related to Schaaf-Yang Syndrome:

(show all 50)
# Title Authors PMID Year
1
MAGEL2-related disorders: A study and case series. 56 61 6
31397880 2019
2
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders. 6 56 61
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. 56 61 6
28281571 2017
4
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. 56 6 61
27195816 2017
5
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. 6 56 61
26365340 2015
6
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 56 6
25473036 2014
7
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 56 6
24076603 2013
8
A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism. 56 61
30323850 2018
9
Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. 61 56
29496979 2018
10
Clinical phenotypes of MAGEL2 mutations and deletions. 56
24661356 2014
11
Chitayat-Hall syndrome: extending the clinical phenotype. 56
24326959 2013
12
A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene. 56
20876615 2010
13
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. 56
19066619 2009
14
Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome. 56
17728320 2007
15
Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs. 56
2240046 1990
16
Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome. 61
30343463 2020
17
A MAGEL2-deubiquitinase complex modulates the ubiquitination of circadian rhythm protein CRY1. 61
32315313 2020
18
A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth. 61
32021601 2020
19
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. 61
31497877 2020
20
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis. 61
31504653 2019
21
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy. 61
31791363 2019
22
mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome. 61
31685878 2019
23
Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation. 61
31152388 2019
24
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses. 61
30859550 2019
25
[Schaaf-Yang syndrome caused by the new variation of MAGEL2 gene in a case]. 61
30695895 2019
26
Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity. 61
30347474 2019
27
Schaaf-Yang syndrome overview: Report of 78 individuals. 61
30302899 2018
28
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
29
Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum. 61
29660409 2018
30
Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene. 61
29389715 2018
31
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea. 61
29581464 2018
32
Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2. 61
29588991 2018
33
Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities. 61
29359444 2018
34
First Case Report of Prader-Willi-Like Syndrome in Colombia. 61
29619043 2018
35
Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty. 61
28296079 2017
36
Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2. 61
28626083 2017
37
CORRIGENDUM: The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. 61
27684311 2016
38
Muscle dysfunction caused by loss of Magel2 in a mouse model of Prader-Willi and Schaaf-Yang syndromes. 61
27436578 2016
39
Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl. 61
27014449 2016
40
Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene. 61
28933382 2016
41
Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings. 61
27160288 2016
42
6q16.3q23.3 duplication associated with Prader-Willi-like syndrome. 61
26110021 2015
43
Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features. 61
24038875 2013
44
Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features. 61
23778136 2013
45
[Identification of a cryptic 1p36.3 microdeletion in a patient with Prader-Willi-like syndrome features]. 61
20931530 2010
46
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. 61
18648397 2008
47
Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence. 61
10893663 2000
48
Prader-Willi-like syndrome in a patient with an Xq23q25 duplication. 61
9843044 1998
49
Proximal duplications of chromosome 15: clinical dilemmas. 61
3698332 1986
50
[Prader Willi-like syndrome]. 61
5793990 1969

Variations for Schaaf-Yang Syndrome

ClinVar genetic disease variations for Schaaf-Yang Syndrome:

6 (show all 26) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAGEL2 NM_019066.5(MAGEL2):c.188dup (p.Ala64fs)duplication Pathogenic 692038 15:23892701-23892702 15:23647554-23647555
2 MAGEL2 NM_019066.5(MAGEL2):c.2199del (p.Glu734fs)deletion Pathogenic 803054 15:23890691-23890691 15:23645544-23645544
3 MAGEL2 NM_019066.5(MAGEL2):c.3246del (p.Asn1084fs)deletion Pathogenic 816928 15:23889644-23889644 15:23644497-23644497
4 MAGEL2 NM_019066.5(MAGEL2):c.1613C>A (p.Ala538Glu)SNV Pathogenic 870506 15:23891277-23891277 15:23646130-23646130
5 MAGEL2 NM_019066.5(MAGEL2):c.1652del (p.Val551fs)deletion Pathogenic 89000 rs398122415 15:23891238-23891238 15:23646091-23646091
6 MAGEL2 NM_019066.5(MAGEL2):c.1802del (p.Pro601fs)deletion Pathogenic 89001 rs398122416 15:23891088-23891088 15:23645941-23645941
7 MAGEL2 NM_019066.5(MAGEL2):c.3179_3180AT[1] (p.Ile1061fs)short repeat Pathogenic 89002 rs398122417 15:23889708-23889709 15:23644561-23644562
8 MAGEL2 NM_019066.5(MAGEL2):c.3124C>T (p.Gln1042Ter)SNV Pathogenic 89003 rs398122418 15:23889766-23889766 15:23644619-23644619
9 MAGEL2 NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)duplication Pathogenic 190122 rs770374710 15:23890893-23890894 15:23645746-23645747
10 MAGEL2 NM_019066.5(MAGEL2):c.1996del (p.Gln666fs)deletion Pathogenic 440463 rs770374710 15:23890894-23890894 15:23645747-23645747
11 MAGEL2 NM_019066.5(MAGEL2):c.2118del (p.Leu708fs)deletion Pathogenic 440464 rs1555374227 15:23890772-23890772 15:23645625-23645625
12 MAGEL2 NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter)SNV Pathogenic 440466 rs1555374290 15:23891269-23891269 15:23646122-23646122
13 MAGEL2 NM_019066.5(MAGEL2):c.1762C>T (p.Gln588Ter)SNV Pathogenic 548683 rs866419580 15:23891128-23891128 15:23645981-23645981
14 MAGEL2 NM_019066.5(MAGEL2):c.1761G>A (p.Trp587Ter)SNV Pathogenic 548682 rs1566784441 15:23891129-23891129 15:23645982-23645982
15 MAGEL2 NM_019066.5(MAGEL2):c.2958del (p.Ser987fs)deletion Pathogenic 403667 rs1060499934 15:23889932-23889932 15:23644785-23644785
16 MAGEL2 NM_019066.5(MAGEL2):c.3208G>T (p.Glu1070Ter)SNV Pathogenic 224132 rs869312694 15:23889682-23889682 15:23644535-23644535
17 MAGEL2 NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter)SNV Pathogenic/Likely pathogenic 208684 rs797044883 15:23890978-23890978 15:23645831-23645831
18 MAGEL2 NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln)SNV Uncertain significance 193415 rs199772480 15:23890230-23890230 15:23645083-23645083
19 MAGEL2 NM_019066.5(MAGEL2):c.1715C>T (p.Ala572Val)SNV Uncertain significance 425062 rs1064797195 15:23891175-23891175 15:23646028-23646028
20 MAGEL2 NM_019066.5(MAGEL2):c.353C>T (p.Pro118Leu)SNV Uncertain significance 430473 rs1131691985 15:23892537-23892537 15:23647390-23647390
21 MAGEL2 NM_019066.5(MAGEL2):c.2170_2232dup (p.Ser724_Ala744dup)duplication Uncertain significance 599395 rs1566784117 15:23890657-23890658 15:23645510-23645511
22 SIM1 NM_005068.2(SIM1):c.*1451_*1452dupTGshort repeat Uncertain significance 354662 rs886060892 6:100836784-100836785 6:100388908-100388909
23 SIM1 NM_005068.2(SIM1):c.743+10C>GSNV Uncertain significance 354685 rs886060897 6:100896345-100896345 6:100448469-100448469
24 SIM1 NM_005068.2(SIM1):c.-200deldeletion Uncertain significance 354690 rs146022425 6:100911544-100911544 6:100463668-100463668
25 SIM1 NM_005068.2(SIM1):c.*1484T>CSNV Uncertain significance 354660 rs886060891 6:100836753-100836753 6:100388877-100388877
26 MAGEL2 NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser)SNV Benign/Likely benign 193399 rs138628273 15:23889873-23889873 15:23644726-23644726

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 11.08 OPRM1 OPRD1 NDN FSCN1 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 9.17 VPS35 TRPV1 OPRM1 OPRL1 OPRD1 FOS
2 spine apparatus GO:0097444 9.16 OPRM1 OPRD1
3 retromer complex GO:0030904 9.13 VPS35 TRIM27 MAGEL2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 9.71 TRPV1 OPRM1 NALCN CACNA1H
2 neuropeptide signaling pathway GO:0007218 9.7 OPRM1 OPRL1 OPRD1
3 retrograde transport, endosome to Golgi GO:0042147 9.65 VPS35 TRIM27 MAGEL2
4 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway GO:0007193 9.63 OPRM1 OPRL1 OPRD1
5 regulation of DNA-binding transcription factor activity GO:0051090 9.56 USP7 FOS
6 Arp2/3 complex-mediated actin nucleation GO:0034314 9.55 TRIM27 MAGEL2
7 estrous cycle GO:0044849 9.54 OPRM1 OPRL1
8 regulation of sensory perception of pain GO:0051930 9.54 OPRM1 OPRL1 OPRD1
9 sensory perception GO:0007600 9.51 OPRM1 OPRL1
10 positive regulation of actin nucleation GO:0051127 9.49 TRIM27 MAGEL2
11 sensory perception of pain GO:0019233 9.46 TRPV1 OPRM1 OPRL1 NDN
12 negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0106072 9.43 OPRM1 OPRL1
13 eating behavior GO:0042755 9.43 OPRM1 OPRL1 OPRD1
14 positive regulation of gastric acid secretion GO:0060454 9.32 TRPV1 OPRL1
15 opioid receptor signaling pathway GO:0038003 9.13 OPRM1 OPRL1 OPRD1
16 cytokine-mediated signaling pathway GO:0019221 9.1 OPRM1 OPRD1 NDN FSCN1 FOS CLCF1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.11 VPS35 USP7 TRPV1 TRIM27 SNRPN SIM1
2 peptide binding GO:0042277 9.5 OPRM1 OPRL1 OPRD1
3 cation channel activity GO:0005261 9.43 TRPV1 NALCN CACNA1H
4 neuropeptide binding GO:0042923 9.13 OPRM1 OPRL1 OPRD1
5 opioid receptor activity GO:0004985 8.8 OPRM1 OPRL1 OPRD1

Sources for Schaaf-Yang Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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53 NINDS
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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