MCID: SCH071
MIFTS: 33

Schaaf-Yang Syndrome

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

Aliases & Classifications for Schaaf-Yang Syndrome

MalaCards integrated aliases for Schaaf-Yang Syndrome:

Name: Schaaf-Yang Syndrome 53 49 55 71 28
Prader-Willi-Like Syndrome 53 49 55 71 69
Prader-Willi Syndrome Due to a Point Mutation 49 55
Pws Due to a Point Mutation 49 55
Shfyng 53 71
Pwls 53 71
Prader-Willi Syndrome Due to Point Mutation 49
Prader-Willi-Like Syndrome; Pwls 53
Pws Due to Point Mutation 49
Pws-Like 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Schaaf-Yang Syndrome

NIH Rare Diseases : 49 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.  Last updated: 7/25/2017

MalaCards based summary : Schaaf-Yang Syndrome, also known as prader-willi-like syndrome, is related to prader-willi-like syndrome due to a point mutation and 6q16 deletion syndrome, and has symptoms including constipation, seizures and obesity. An important gene associated with Schaaf-Yang Syndrome is MAGEL2 (MAGE Family Member L2). Affiliated tissues include skin and eye.

OMIM : 53 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 : 71 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:

# Related Disease Score Top Affiliating Genes
1 prader-willi-like syndrome due to a point mutation 12.4
2 6q16 deletion syndrome 11.4
3 prader-willi syndrome 10.1
4 arthrogryposis multiplex congenita, neurogenic, with myelin defect 10.1
5 dental fluorosis 10.0

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



Diseases related to Schaaf-Yang Syndrome

Symptoms & Phenotypes for Schaaf-Yang Syndrome

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
constipation
gastroesophageal reflux
poor feeding in infancy
hyperphagia later (in some patients)

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

Skeletal Hands:
clinodactyly
brachydactyly
camptodactyly
small hands
tapering fingers
more
Neurologic Central Nervous System:
sleep apnea
absent speech
inability to walk
delayed psychomotor development
seizures (in some patients)
more
Head And Neck Eyes:
strabismus
myopia
esotropia
short palpebral fissures
bushy eyebrows
more
Growth Other:
failure to thrive in infancy

Head And Neck Mouth:
open mouth

Genitourinary External Genitalia Male:
micropenis

Skeletal:
joint contractures
arthrogryposis (in some patients)

Muscle Soft Tissue:
hypotonia, neonatal

Head And Neck Ears:
low-set ears

Head And Neck Face:
frontal bossing
retrognathia
coarse facies
bitemporal narrowing
abnormal philtrum
more
Skeletal Spine:
scoliosis
kyphosis

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Endocrine Features:
hypogonadism

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

Neurologic Behavioral Psychiatric Manifestations:
impulsivity
autistic features
automutilation
compulsivity
skin picking
more
Skeletal Feet:
rocker-bottom feet
small feet

Head And Neck Nose:
abnormal nose structure


Clinical features from OMIM:

615547

Human phenotypes related to Schaaf-Yang Syndrome:

55 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002019
2 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
3 obesity 55 31 Very frequent (99-80%) HP:0001513
4 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
5 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
6 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
7 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
8 sleep apnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0010535
9 coarse facial features 55 31 frequent (33%) Frequent (79-30%) HP:0000280
10 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
11 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505
12 neonatal hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001319
13 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
14 flexion contracture 55 31 occasional (7.5%) Occasional (29-5%) HP:0001371
15 decreased muscle mass 55 31 frequent (33%) Frequent (79-30%) HP:0003199
16 feeding difficulties 55 31 hallmark (90%) Very frequent (99-80%) HP:0011968
17 short foot 55 31 frequent (33%) Frequent (79-30%) HP:0001773
18 cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000028
19 myopia 55 31 frequent (33%) Frequent (79-30%) HP:0000545
20 hypogonadotrophic hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000044
21 small hand 55 31 frequent (33%) Frequent (79-30%) HP:0200055
22 open mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000194
23 hyperinsulinemic hypoglycemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000825
24 polyphagia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002591
25 micropenis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000054
26 autistic behavior 55 31 occasional (7.5%) Occasional (29-5%) HP:0000729
27 almond-shaped palpebral fissure 55 31 frequent (33%) Frequent (79-30%) HP:0007874
28 esotropia 55 31 frequent (33%) Frequent (79-30%) HP:0000565
29 amenorrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0000141
30 exotropia 55 31 frequent (33%) Frequent (79-30%) HP:0000577
31 acromesomelia 55 31 frequent (33%) Frequent (79-30%) HP:0003086
32 speech articulation difficulties 55 31 occasional (7.5%) Occasional (29-5%) HP:0009088
33 narrow forehead 55 31 frequent (33%) Frequent (79-30%) HP:0000341
34 skin-picking 55 31 occasional (7.5%) Occasional (29-5%) HP:0012166
35 abdominal obesity 55 31 hallmark (90%) Very frequent (99-80%) HP:0012743
36 respiratory distress 31 occasional (7.5%) HP:0002098
37 behavioral abnormality 55 Occasional (29-5%)
38 failure to thrive in infancy 31 HP:0001531
39 hypogonadism 31 HP:0000135
40 increased body weight 55 Very frequent (99-80%)
41 respiratory difficulties 55 Occasional (29-5%)
42 narrow palm 31 HP:0004283

UMLS symptoms related to Schaaf-Yang Syndrome:


constipation

Drugs & Therapeutics for Schaaf-Yang Syndrome

Search Clinical Trials , 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 28 MAGEL2

Anatomical Context for Schaaf-Yang Syndrome

MalaCards organs/tissues related to Schaaf-Yang Syndrome:

38
Skin, Eye

Publications for Schaaf-Yang Syndrome

Articles related to Schaaf-Yang Syndrome:

# Title Authors Year
1
Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene. ( 29389715 )
2018
2
Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities. ( 29359444 )
2018
3
Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene. ( 28933382 )
2016
4
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. ( 27195816 )
2016
5
CORRIGENDUM: The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. ( 27684311 )
2016
6
Prader-Willi-like syndrome in a patient with an Xq23q25 duplication. ( 9843044 )
1998

Variations for Schaaf-Yang Syndrome

ClinVar genetic disease variations for Schaaf-Yang Syndrome:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAGEL2 NM_019066.4(MAGEL2): c.1652delT (p.Val551Aspfs) deletion Pathogenic rs398122415 GRCh37 Chromosome 15, 23891238: 23891238
2 MAGEL2 NM_019066.4(MAGEL2): c.1802delC (p.Pro601Glnfs) deletion Pathogenic rs398122416 GRCh37 Chromosome 15, 23891088: 23891088
3 MAGEL2 NM_019066.4(MAGEL2): c.3181_3182delAT (p.Ile1061Hisfs) deletion Pathogenic rs398122417 GRCh37 Chromosome 15, 23889708: 23889709
4 MAGEL2 NM_019066.4(MAGEL2): c.3124C> T (p.Gln1042Ter) single nucleotide variant Pathogenic rs398122418 GRCh37 Chromosome 15, 23889766: 23889766
5 MAGEL2 NM_019066.4(MAGEL2): c.1996dupC (p.Gln666Profs) duplication Pathogenic rs770374710 GRCh38 Chromosome 15, 23645747: 23645747
6 MAGEL2 NM_019066.4(MAGEL2): c.1912C> T (p.Gln638Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797044883 GRCh37 Chromosome 15, 23890978: 23890978
7 MAGEL2 NM_019066.4(MAGEL2): c.3208G> T (p.Glu1070Ter) single nucleotide variant Pathogenic rs869312694 GRCh37 Chromosome 15, 23889682: 23889682
8 MAGEL2 NM_019066.4(MAGEL2): c.2958delG (p.Ser987Alafs) deletion Pathogenic rs1060499934 GRCh38 Chromosome 15, 23644785: 23644785
9 MAGEL2 NM_019066.4(MAGEL2): c.37_38insAC (p.Pro13Hisfs) insertion Likely pathogenic GRCh37 Chromosome 15, 23892852: 23892853
10 MAGEL2 NM_019066.4(MAGEL2): c.1996delC (p.Gln666Serfs) deletion Pathogenic rs773586710 GRCh38 Chromosome 15, 23645747: 23645747
11 MAGEL2 NM_019066.4(MAGEL2): c.2118delT (p.Leu708Trpfs) deletion Pathogenic GRCh37 Chromosome 15, 23890772: 23890772
12 MAGEL2 NM_019066.4(MAGEL2): c.1621C> T (p.Gln541Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 23646122: 23646122

Expression for Schaaf-Yang Syndrome

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

Pathways for Schaaf-Yang Syndrome

GO Terms for Schaaf-Yang Syndrome

Sources for Schaaf-Yang Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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