ORPHA:98754

Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15

Synonyms: UPD(15)mat

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: Not applicable
Age of onset: Adolescent, Adult
Status: active

This disease is described under Prader-Willi syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	UPD(15)mat
fr	Syndrome de Prader-Willi dû à une disomie uniparentale maternelle du chromosome 15	UPD(15) maternelle · UPD(15)mat
de	Prader-Willi-Syndrom durch maternale uniparentale Disomie 15	= en
es	Síndrome de Prader-Willi por disomía uniparental materna del cromosoma 15	= en
it	Sindrome di Prader-Willi da disomia uniparentale materna del cromosoma 15	= en
nl	Prader-Willisyndroom door maternale uniparentale disomie van chromosoom 15	= en
pt	Síndrome de Prader-Willi por dissomia uniparental do cromossoma 15, de origem materna
pl	Zespół Pradera i Willego z powodu matczynej jednorodzicielskiej disomii chromosomu 15	= en
cs	Praderův-Williho syndrom způsobený maternální uniparentální dizomií chromozomu 16	UPD(15)mat · Prader-Williho syndrom způsobený maternální uniparentální dizomií chromozomu 16
uk	Синдром Прадера-Віллі, зумовлений материнською уніпарентною дисомією хромосоми 15	= en
zh	15号染色体母源单亲二体型Prader-Willi综合征	母源性UPD(15)
tr	Kromozom 15'in maternal uniparental dizomisine bağlı Prader-Willi sendromu	UPD (15) mat

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	176270	NTBT		validated
ICD-10	Q87.1	NTBT	attributed	validated
ICD-11	LD90.3	NTBT	attributed	validated
MONDO	0020298	E		validated
UMLS	C5680343	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (2):

ORPHA:98153Maternal uniparental disomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
ORPHA:739Prader-Willi syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases

No children.

Genes

4 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MAGEL2	Role in the phenotype of	Assessed	HGNC:6814	ENSG00000254585	605283	15q11.2	MAGE family member L2	20301505[PMID]
NDN	Role in the phenotype of	Assessed	HGNC:7675	ENSG00000182636	602117	15q11.2	necdin, MAGE family member	20301505[PMID]
OCA2	Role in the phenotype of	Assessed	HGNC:8101	ENSG00000104044	611409	15q12-q13.1	OCA2 melanosomal transmembrane protein	20301505[PMID]
SNRPN	Role in the phenotype of	Assessed	HGNC:11164	ENSG00000128739	182279	15q11.2	small nuclear ribonucleoprotein polypeptide N	20301505[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

67 annotations · validated 2020-11-16

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000028	Cryptorchidism
HP:0008872	Feeding difficulties in infancy
HP:0001513	Obesity
HP:0002119	Ventriculomegaly
Frequent (79-30%)
HP:0025160	Abnormal temper tantrums
HP:0010627	Anterior pituitary hypoplasia
HP:0000708	Atypical behavior
HP:0000717	Autism
HP:0000729	Autistic behavior
HP:0011734	Central adrenal insufficiency
HP:0000060	Clitoral hypoplasia
HP:0030339	Decreased circulating gonadotropin level
HP:0000824	Decreased response to growth hormone stimulation test
HP:0008734	Decreased testicular size
HP:0000823	Delayed puberty
HP:0003241	External genital hypoplasia
HP:0001508	Failure to thrive
HP:0000044	Hypogonadotropic hypogonadism
HP:0000064	Hypoplastic labia minora
HP:0001252	Hypotonia
HP:0000789	Infertility
HP:0006889	Intellectual disability, borderline
HP:0001256	Intellectual disability, mild
HP:0012105	Occipital cortical atrophy
HP:0012104	Parietal cortical atrophy
HP:0012650	Perisylvian polymicrogyria
HP:0002591	Polyphagia
HP:0031169	Postterm pregnancy
HP:0000786	Primary amenorrhea
HP:0000709	Psychosis
HP:0002205	Recurrent respiratory infections
HP:0002650	Scoliosis
HP:0001773	Short foot
HP:0004322	Short stature
HP:0200055	Small hand
HP:0000046	Small scrotum
HP:0001328	Specific learning disability
HP:0000486	Strabismus
Occasional (29-5%)
HP:0007874	Almond-shaped palpebral fissure
HP:0100739	Bulimia
HP:0002871	Central apnea
HP:0011787	Central hypothyroidism
HP:0031507	Decreased circulating thyroxine level
HP:0001558	Decreased fetal movement
HP:0031100	Decreased inhibin B level
HP:0000819	Diabetes mellitus
HP:0002714	Downturned corners of mouth
HP:0002578	Gastroparesis
HP:0001263	Global developmental delay
HP:0001385	Hip dysplasia
HP:0010829	Impaired temperature sensition
HP:0002870	Obstructive sleep apnea
HP:0000938	Osteopenia
HP:0000939	Osteoporosis
HP:0010741	Pedal edema
HP:0012412	Premature adrenarche
HP:0012411	Premature pubarche
HP:0001250	Seizure
HP:0100716	Self-injurious behavior
HP:0012166	Skin-picking
HP:0002360	Sleep abnormality
HP:0001518	Small for gestational age
Very rare (<4-1%)
HP:0005599	Hypopigmentation of hair
HP:0001010	Hypopigmentation of the skin
HP:0002342	Intellectual disability, moderate
HP:0007730	Iris hypopigmentation
HP:0000826	Precocious puberty

Run the differential on the 4 obligate / very frequent terms

Annotation source: 26062517[PMID]_20301505[PMID]_27777904[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/98754
This record as JSON: /data/d/98754.json