MCID: SCH071
MIFTS: 32

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 54 50 56 71 29
Prader-Willi-Like Syndrome 50 24 56 71 69
Prader-Willi Syndrome Due to Point Mutation 50 56
Pws Due to Point Mutation 50 56
Pws-Like 56
Shfyng 71
Pwls 71

Characteristics:

Orphanet epidemiological data:

56
prader-willi syndrome due to point mutation
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;
prader-willi-like syndrome
Age of onset: Neonatal;

OMIM:

54
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 : 50 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 associated with chromosome 6 and prader-willi-like syndrome due to point mutation, and has symptoms including short stature, failure to thrive and visual impairment. An important gene associated with Schaaf-Yang Syndrome is MAGEL2 (MAGE Family Member L2). Affiliated tissues include skin and eye.

OMIM : 54
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:

id Related Disease Score Top Affiliating Genes
1 prader-willi-like syndrome associated with chromosome 6 12.3
2 prader-willi-like syndrome due to point mutation 12.3
3 6q16 deletion syndrome 11.3
4 prader-willi syndrome 10.1
5 dental fluorosis 9.9

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:

54

Growth- Height:
short stature

Skeletal- Spine:
scoliosis
kyphosis

Skeletal- Hands:
brachydactyly
small hands
camptodactyly
clinodactyly
tapering fingers
more
Head And Neck- Eyes:
strabismus
myopia
short palpebral fissures
esotropia
bushy eyebrows
more
Genitourinary- External Genitalia Male:
micropenis

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

Muscle Soft Tissue:
hypotonia, neonatal

Endocrine Features:
hypogonadism

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

Growth- Other:
failure to thrive in infancy

Skeletal:
joint contractures
arthrogryposis (in some patients)

Head And Neck- Face:
coarse facies
retrognathia
frontal bossing
bitemporal narrowing
dysmorphic facial features, variable
more
Neurologic- Central Nervous System:
delayed psychomotor development
seizures (in some patients)
absent speech
intellectual disability, mild to severe
delayed walking
more
Head And Neck- Ears:
low-set ears

Skeletal- Feet:
rocker-bottom feet
small feet

Genitourinary- Internal Genitalia Male:
cryptorchidism

Head And Neck- Mouth:
open mouth

Neurologic- Behavioral Psychiatric Manifestations:
autistic features
automutilation
impulsivity
compulsivity
skin picking
more
Prenatal Manifestations- Movement:
decreased fetal movement
fetal akinesia (in some patients)

Head And Neck- Nose:
abnormal nose structure


Clinical features from OMIM:

615547

Human phenotypes related to Schaaf-Yang Syndrome:

56 32 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
4 myopia 56 32 frequent (33%) Frequent (79-30%) HP:0000545
5 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
7 micropenis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000054
8 coarse facial features 56 32 frequent (33%) Frequent (79-30%) HP:0000280
9 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
10 neonatal hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001319
11 cryptorchidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000028
12 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
13 amenorrhea 56 32 hallmark (90%) Very frequent (99-80%) HP:0000141
14 esotropia 56 32 frequent (33%) Frequent (79-30%) HP:0000565
15 open mouth 56 32 frequent (33%) Frequent (79-30%) HP:0000194
16 hyperinsulinemic hypoglycemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000825
17 speech articulation difficulties 56 32 occasional (7.5%) Occasional (29-5%) HP:0009088
18 constipation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002019
19 feeding difficulties 56 32 hallmark (90%) Very frequent (99-80%) HP:0011968
20 narrow forehead 56 32 frequent (33%) Frequent (79-30%) HP:0000341
21 high palate 56 32 frequent (33%) Frequent (79-30%) HP:0000218
22 obesity 56 32 Very frequent (99-80%) HP:0001513
23 exotropia 56 32 frequent (33%) Frequent (79-30%) HP:0000577
24 abdominal obesity 56 32 hallmark (90%) Very frequent (99-80%) HP:0012743
25 sleep apnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0010535
26 decreased muscle mass 56 32 frequent (33%) Frequent (79-30%) HP:0003199
27 autistic behavior 56 32 occasional (7.5%) Occasional (29-5%) HP:0000729
28 acromesomelia 56 32 frequent (33%) Frequent (79-30%) HP:0003086
29 polyphagia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002591
30 small hand 56 32 frequent (33%) Frequent (79-30%) HP:0200055
31 hypogonadotrophic hypogonadism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000044
32 flexion contracture 56 32 occasional (7.5%) Occasional (29-5%) HP:0001371
33 short foot 56 32 frequent (33%) Frequent (79-30%) HP:0001773
34 almond-shaped palpebral fissure 56 32 frequent (33%) Frequent (79-30%) HP:0007874
35 skin-picking 56 32 occasional (7.5%) Occasional (29-5%) HP:0012166
36 respiratory difficulties 56 Occasional (29-5%)
37 respiratory distress 32 occasional (7.5%) HP:0002098
38 hypogonadism 32 HP:0000135
39 failure to thrive in infancy 32 HP:0001531
40 behavioral abnormality 56 Occasional (29-5%)
41 increased body weight 56 Very frequent (99-80%)
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:

id Genetic test Affiliating Genes
1 Schaaf-Yang Syndrome 29
2 Prader-Willi-Like Syndrome 24 MAGEL2

Anatomical Context for Schaaf-Yang Syndrome

MalaCards organs/tissues related to Schaaf-Yang Syndrome:

39
Skin, Eye

Publications for Schaaf-Yang Syndrome

Articles related to Schaaf-Yang Syndrome:

id Title Authors Year
1
CORRIGENDUM: The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. ( 27684311 )
2016
2
Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene. ( 28933382 )
2016
3
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. ( 27195816 )
2016

Variations for Schaaf-Yang Syndrome

ClinVar genetic disease variations for Schaaf-Yang Syndrome:

6
id 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.3208G> T (p.Glu1070Ter) single nucleotide variant Pathogenic rs869312694 GRCh37 Chromosome 15, 23889682: 23889682
7 MAGEL2 NM_019066.4(MAGEL2): c.2958delG (p.Ser987Alafs) deletion Pathogenic rs1060499934 GRCh37 Chromosome 15, 23889932: 23889932
8 MAGEL2 NM_019066.4(MAGEL2): c.37_38insAC (p.Pro13Hisfs) insertion Likely pathogenic GRCh37 Chromosome 15, 23892852: 23892853

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
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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54 OMIM
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59 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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