ORPHA:231144

Silver-Russell syndrome due to 11p15 microduplication

This disease is described under Silver-Russell syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Silver-Russell syndrome due to 11p15 microduplication
fr	Syndrome de Silver-Russell dû à une microduplication 11p15
de	Silver-Russell-Syndrom durch Mikroduplikation 11p15
es	Síndrome de Silver-Russell por microduplicación 11p15
it	Sindrome di Silver-Russell da microduplicazione 11p15
nl	Syndroom van Silver-Russell als gevolg van 11p15 microduplicatie
pt	Síndrome de Silver-Russell por microduplicação 11p15
pl	Zespół Silvera i Russella z powodu mikroduplikacji 11p15
cs	Silverův-Russellův syndrom způsobený 11p15 mikroduplikací	Silver-Russellův syndrom způsobený 11p15 mikroduplikací
uk	Синдром Сільвера-Рассела, зумовлений мікродуплікацією 11р15
zh	11p15微重复所致Silver-Russell综合征
tr	11p15 mikro çoğalması kaynaklı Silver-Russell sendromu

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q87.1	NTBT	attributed	validated
ICD-11	LD2F.1Y	NTBT	attributed	validated
MONDO	0016481	E		validated
UMLS	C5680917	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

ORPHA:262785Partial duplication of the short arm of chromosome 11 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
ORPHA:813Silver-Russell syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare neoplastic diseases

No children.

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
H19	Role in the phenotype of	Assessed	HGNC:4713	ENSG00000130600	103280	11p15.5	H19 imprinted maternally expressed transcript	28592837[PMID]
IGF2	Role in the phenotype of	Assessed	HGNC:5466	ENSG00000167244	147470	11p15.5	insulin like growth factor 2	20503324[PMID]

0 records

No prevalence record in this release.

19 annotations · validated 2020-11-20

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0004209	Clinodactyly of the 5th finger
HP:0002750	Delayed skeletal maturation
HP:0001508	Failure to thrive
HP:0001511	Intrauterine growth retardation
HP:0001562	Oligohydramnios
HP:0008897	Postnatal growth retardation
HP:0004322	Short stature
HP:0001518	Small for gestational age
HP:0000325	Triangular face
Occasional (29-5%)
HP:0001558	Decreased fetal movement
HP:0000324	Facial asymmetry
HP:0008947	Floppy infant
HP:0011800	Midface retrusion
HP:0001270	Motor delay
HP:0011220	Prominent forehead
HP:0004482	Relative macrocephaly
HP:0008846	Severe intrauterine growth retardation
HP:0001328	Specific learning disability
HP:0001537	Umbilical hernia

Annotation source: 22844132[PMID]_22844132[PMID]