MCID: SCH071
MIFTS: 34

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 57 53 59 75 29 6 40
Prader-Willi-Like Syndrome 57 53 59 75 73
Prader-Willi Syndrome Due to a Point Mutation 53 59
Pws Due to a Point Mutation 53 59
Shfyng 57 75
Pwls 57 75
Prader-Willi Syndrome Due to Point Mutation 53
Prader-Willi-Like Syndrome; Pwls 57
Pws Due to Point Mutation 53
Pws-Like 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
schaaf-yang syndrome:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Schaaf-Yang Syndrome

NIH Rare Diseases : 53 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. 

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

OMIM : 57 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 : 75 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 syndrome 28.7 MAGEL2 SIM1
2 prader-willi-like syndrome due to a point mutation 12.4
3 6q16 deletion syndrome 11.4
4 intestinal pseudo-obstruction 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:

57
Head And Neck Ears:
low-set ears

Head And Neck Face:
frontal bossing
retrognathia
coarse facies
bitemporal narrowing
abnormal philtrum
more
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
poor feeding in infancy
hyperphagia later (in some patients)

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

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

Skeletal Hands:
clinodactyly
brachydactyly
camptodactyly
small hands
tapering fingers
more
Skeletal Spine:
scoliosis
kyphosis

Growth Height:
short stature

GenitourinaryInternal GenitaliaMale:
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:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 Very frequent (99-80%) HP:0001513
2 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
3 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
4 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
7 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
8 sleep apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0010535
9 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
10 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
12 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
13 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
14 flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0001371
15 decreased muscle mass 59 32 frequent (33%) Frequent (79-30%) HP:0003199
16 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
17 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
18 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
19 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
20 hypogonadotrophic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000044
21 small hand 59 32 frequent (33%) Frequent (79-30%) HP:0200055
22 open mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000194
23 hyperinsulinemic hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000825
24 polyphagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002591
25 micropenis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000054
26 autistic behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000729
27 almond-shaped palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0007874
28 esotropia 59 32 frequent (33%) Frequent (79-30%) HP:0000565
29 amenorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000141
30 exotropia 59 32 frequent (33%) Frequent (79-30%) HP:0000577
31 acromesomelia 59 32 frequent (33%) Frequent (79-30%) HP:0003086
32 speech articulation difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0009088
33 narrow forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000341
34 skin-picking 59 32 occasional (7.5%) Occasional (29-5%) HP:0012166
35 abdominal obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0012743
36 behavioral abnormality 59 Occasional (29-5%)
37 respiratory distress 32 occasional (7.5%) HP:0002098
38 failure to thrive in infancy 32 HP:0001531
39 hypogonadism 32 HP:0000135
40 increased body weight 59 Very frequent (99-80%)
41 respiratory difficulties 59 Occasional (29-5%)
42 narrow palm 32 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 29 MAGEL2

Anatomical Context for Schaaf-Yang Syndrome

MalaCards organs/tissues related to Schaaf-Yang Syndrome:

41
Skin, Eye

Publications for Schaaf-Yang Syndrome

Articles related to Schaaf-Yang Syndrome:

# Title Authors Year
1
Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities. ( 29359444 )
2018
2
Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene. ( 29389715 )
2018
3
Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. ( 29496979 )
2018
4
Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum. ( 29660409 )
2018
5
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. ( 27195816 )
2016
6
Muscle dysfunction caused by loss of Magel2 in a mouse model of Prader-Willi and Schaaf-Yang syndromes. ( 27436578 )
2016
7
Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene. ( 28933382 )
2016
8
CORRIGENDUM: The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. ( 27684311 )
2016

Variations for Schaaf-Yang Syndrome

ClinVar genetic disease variations for Schaaf-Yang Syndrome:

6
(show top 50) (show all 86)
# 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.1652delT (p.Val551Aspfs) deletion Pathogenic rs398122415 GRCh38 Chromosome 15, 23646091: 23646091
3 MAGEL2 NM_019066.4(MAGEL2): c.1802delC (p.Pro601Glnfs) deletion Pathogenic rs398122416 GRCh37 Chromosome 15, 23891088: 23891088
4 MAGEL2 NM_019066.4(MAGEL2): c.1802delC (p.Pro601Glnfs) deletion Pathogenic rs398122416 GRCh38 Chromosome 15, 23645941: 23645941
5 MAGEL2 NM_019066.4(MAGEL2): c.3181_3182delAT (p.Ile1061Hisfs) deletion Pathogenic rs398122417 GRCh37 Chromosome 15, 23889708: 23889709
6 MAGEL2 NM_019066.4(MAGEL2): c.3181_3182delAT (p.Ile1061Hisfs) deletion Pathogenic rs398122417 GRCh38 Chromosome 15, 23644561: 23644562
7 MAGEL2 NM_019066.4(MAGEL2): c.3124C> T (p.Gln1042Ter) single nucleotide variant Pathogenic rs398122418 GRCh37 Chromosome 15, 23889766: 23889766
8 MAGEL2 NM_019066.4(MAGEL2): c.3124C> T (p.Gln1042Ter) single nucleotide variant Pathogenic rs398122418 GRCh38 Chromosome 15, 23644619: 23644619
9 MAGEL2 NM_019066.4(MAGEL2): c.1996dupC (p.Gln666Profs) duplication Pathogenic rs770374710 GRCh38 Chromosome 15, 23645747: 23645747
10 MAGEL2 NM_019066.4(MAGEL2): c.1996dupC (p.Gln666Profs) duplication Pathogenic rs770374710 GRCh37 Chromosome 15, 23890894: 23890894
11 MAGEL2 NM_019066.4(MAGEL2): c.1912C> T (p.Gln638Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797044883 GRCh37 Chromosome 15, 23890978: 23890978
12 MAGEL2 NM_019066.4(MAGEL2): c.1912C> T (p.Gln638Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797044883 GRCh38 Chromosome 15, 23645831: 23645831
13 MAGEL2 NM_019066.4(MAGEL2): c.3208G> T (p.Glu1070Ter) single nucleotide variant Pathogenic rs869312694 GRCh37 Chromosome 15, 23889682: 23889682
14 MAGEL2 NM_019066.4(MAGEL2): c.3208G> T (p.Glu1070Ter) single nucleotide variant Pathogenic rs869312694 GRCh38 Chromosome 15, 23644535: 23644535
15 SIM1 NM_005068.2(SIM1): c.*1451_*1452dupTG duplication Uncertain significance rs886060892 GRCh37 Chromosome 6, 100836785: 100836786
16 SIM1 NM_005068.2(SIM1): c.*1451_*1452dupTG duplication Uncertain significance rs886060892 GRCh38 Chromosome 6, 100388909: 100388910
17 SIM1 NM_005068.2(SIM1): c.*1278C> T single nucleotide variant Uncertain significance rs886060893 GRCh37 Chromosome 6, 100836959: 100836959
18 SIM1 NM_005068.2(SIM1): c.*1278C> T single nucleotide variant Uncertain significance rs886060893 GRCh38 Chromosome 6, 100389083: 100389083
19 SIM1 NM_005068.2(SIM1): c.*1125T> C single nucleotide variant Uncertain significance rs758539915 GRCh37 Chromosome 6, 100837112: 100837112
20 SIM1 NM_005068.2(SIM1): c.*1125T> C single nucleotide variant Uncertain significance rs758539915 GRCh38 Chromosome 6, 100389236: 100389236
21 SIM1 NM_005068.2(SIM1): c.*51G> A single nucleotide variant Likely benign rs55805997 GRCh37 Chromosome 6, 100838186: 100838186
22 SIM1 NM_005068.2(SIM1): c.*51G> A single nucleotide variant Likely benign rs55805997 GRCh38 Chromosome 6, 100390310: 100390310
23 SIM1 NM_005068.2(SIM1): c.2194T> C (p.Leu732=) single nucleotide variant Uncertain significance rs886060894 GRCh37 Chromosome 6, 100838344: 100838344
24 SIM1 NM_005068.2(SIM1): c.2194T> C (p.Leu732=) single nucleotide variant Uncertain significance rs886060894 GRCh38 Chromosome 6, 100390468: 100390468
25 SIM1 NM_005068.2(SIM1): c.1125C> T (p.Leu375=) single nucleotide variant Uncertain significance rs886060896 GRCh38 Chromosome 6, 100420832: 100420832
26 SIM1 NM_005068.2(SIM1): c.1125C> T (p.Leu375=) single nucleotide variant Uncertain significance rs886060896 GRCh37 Chromosome 6, 100868708: 100868708
27 SIM1 NM_005068.2(SIM1): c.1054C> A (p.Pro352Thr) single nucleotide variant Benign rs3734354 GRCh37 Chromosome 6, 100868779: 100868779
28 SIM1 NM_005068.2(SIM1): c.1054C> A (p.Pro352Thr) single nucleotide variant Benign rs3734354 GRCh38 Chromosome 6, 100420903: 100420903
29 SIM1 NM_005068.2(SIM1): c.804T> C (p.His268=) single nucleotide variant Uncertain significance rs761256648 GRCh37 Chromosome 6, 100896068: 100896068
30 SIM1 NM_005068.2(SIM1): c.804T> C (p.His268=) single nucleotide variant Uncertain significance rs761256648 GRCh38 Chromosome 6, 100448192: 100448192
31 SIM1 NM_005068.2(SIM1): c.*1453G> T single nucleotide variant Likely benign rs13201004 GRCh37 Chromosome 6, 100836784: 100836784
32 SIM1 NM_005068.2(SIM1): c.*1453G> T single nucleotide variant Likely benign rs13201004 GRCh38 Chromosome 6, 100388908: 100388908
33 SIM1 NM_005068.2(SIM1): c.*450T> C single nucleotide variant Uncertain significance rs537039330 GRCh37 Chromosome 6, 100837787: 100837787
34 SIM1 NM_005068.2(SIM1): c.*450T> C single nucleotide variant Uncertain significance rs537039330 GRCh38 Chromosome 6, 100389911: 100389911
35 SIM1 NM_005068.2(SIM1): c.*375C> T single nucleotide variant Likely benign rs114523604 GRCh37 Chromosome 6, 100837862: 100837862
36 SIM1 NM_005068.2(SIM1): c.*375C> T single nucleotide variant Likely benign rs114523604 GRCh38 Chromosome 6, 100389986: 100389986
37 SIM1 NM_005068.2(SIM1): c.*99G> A single nucleotide variant Uncertain significance rs777887808 GRCh37 Chromosome 6, 100838138: 100838138
38 SIM1 NM_005068.2(SIM1): c.*99G> A single nucleotide variant Uncertain significance rs777887808 GRCh38 Chromosome 6, 100390262: 100390262
39 SIM1 NM_005068.2(SIM1): c.2111A> T (p.Gln704Leu) single nucleotide variant Uncertain significance rs886060895 GRCh38 Chromosome 6, 100390551: 100390551
40 SIM1 NM_005068.2(SIM1): c.2111A> T (p.Gln704Leu) single nucleotide variant Uncertain significance rs886060895 GRCh37 Chromosome 6, 100838427: 100838427
41 SIM1 NM_005068.2(SIM1): c.743+10C> G single nucleotide variant Uncertain significance rs886060897 GRCh38 Chromosome 6, 100448469: 100448469
42 SIM1 NM_005068.2(SIM1): c.743+10C> G single nucleotide variant Uncertain significance rs886060897 GRCh37 Chromosome 6, 100896345: 100896345
43 SIM1 NM_005068.2(SIM1): c.-127T> C single nucleotide variant Likely benign rs41315244 GRCh37 Chromosome 6, 100911471: 100911471
44 SIM1 NM_005068.2(SIM1): c.-127T> C single nucleotide variant Likely benign rs41315244 GRCh38 Chromosome 6, 100463595: 100463595
45 SIM1 NM_005068.2(SIM1): c.*589G> A single nucleotide variant Uncertain significance rs769730169 GRCh37 Chromosome 6, 100837648: 100837648
46 SIM1 NM_005068.2(SIM1): c.*589G> A single nucleotide variant Uncertain significance rs769730169 GRCh38 Chromosome 6, 100389772: 100389772
47 SIM1 NM_005068.2(SIM1): c.*183A> T single nucleotide variant Uncertain significance rs145341368 GRCh37 Chromosome 6, 100838054: 100838054
48 SIM1 NM_005068.2(SIM1): c.*183A> T single nucleotide variant Uncertain significance rs145341368 GRCh38 Chromosome 6, 100390178: 100390178
49 SIM1 NM_005068.2(SIM1): c.1236C> A (p.Thr412=) single nucleotide variant Uncertain significance rs200106103 GRCh38 Chromosome 6, 100393821: 100393821
50 SIM1 NM_005068.2(SIM1): c.1236C> A (p.Thr412=) single nucleotide variant Uncertain significance rs200106103 GRCh37 Chromosome 6, 100841697: 100841697

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

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