ORPHA:397590

Silver-Russell syndrome due to a point mutation

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 a point mutation
fr	Syndrome de Silver-Russell dû à une mutation ponctuelle
de	Silver-Russell-Syndrom durch Punktmutation
es	Síndrome de Silver-Russell por una mutación puntual
it	Sindrome di Silver-Russell da mutazione puntiforme
nl	Syndroom van Silver-Russell door puntmutatie
pt	Síndrome Silver-Russell por mutação pontual
pl	Zespół Silvera i Russella spowodowany mutacją punktową
cs	Silverův-Russellův syndrom způsobený bodovými mutacemi	Silver-Russellův syndrom způsobený bodovými mutacemi
uk	Синдром Сільвера-Рассела, зумовлений точковою мутацією
zh	点突变所致Silver-Russell综合征
tr	Nokta mutasyonu kaynaklı Silver-Russell sendromu

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	616489	BTNT		validated
OMIM	618907	BTNT		validated
OMIM	618908	BTNT		validated
ICD-10	Q87.1	NTBT	attributed	validated
ICD-11	LD2F.1Y	NTBT	attributed	validated
UMLS	C5681157	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 (1):

ORPHA:813Silver-Russell syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare neoplastic diseases

No children.

4 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CDKN1C	Disease-causing germline mutation(s) (gain of function) in	Assessed	HGNC:1786	ENSG00000129757	600856	11p15.4	cyclin dependent kinase inhibitor 1C	24065356[PMID]
HMGA2	Disease-causing germline mutation(s) in	Assessed	HGNC:5009	ENSG00000149948	600698	12q14.3	high mobility group AT-hook 2	29655892[PMID]
IGF2	Disease-causing germline mutation(s) in	Assessed	HGNC:5466	ENSG00000167244	147470	11p15.5	insulin like growth factor 2	26154720[PMID]
PLAG1	Disease-causing germline mutation(s) in	Assessed	HGNC:9045	ENSG00000181690	603026	8q12.1	PLAG1 zinc finger	28796236[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		8 cases	Worldwide	Case(s)	Validated	24065356[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_24065356[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

36 annotations · validated 2020-11-23

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0004209	Clinodactyly of the 5th finger
HP:0008872	Feeding difficulties in infancy
HP:0001511	Intrauterine growth retardation
HP:0000347	Micrognathia
HP:0008897	Postnatal growth retardation
HP:0011220	Prominent forehead
HP:0004482	Relative macrocephaly
HP:0001518	Small for gestational age
HP:0000325	Triangular face
Frequent (79-30%)
HP:0001626	Abnormality of the cardiovascular system
HP:0000045	Abnormality of the scrotum
HP:0000175	Cleft palate
HP:0000750	Delayed speech and language development
HP:0000047	Hypospadias
HP:0000369	Low-set ears
HP:0001270	Motor delay
HP:0001562	Oligohydramnios
HP:0009237	Short 5th finger
HP:0001159	Syndactyly
Occasional (29-5%)
HP:0002099	Asthma
HP:0100555	Asymmetric growth
HP:0007018	Attention deficit hyperactivity disorder
HP:0000048	Bifid scrotum
HP:0000957	Cafe-au-lait spot
HP:0000028	Cryptorchidism
HP:0100607	Dysmenorrhea
HP:0100257	Ectrodactyly
HP:0002007	Frontal bossing
HP:0001263	Global developmental delay
HP:0001943	Hypoglycemia
HP:0001804	Hypoplastic fingernail
HP:0000821	Hypothyroidism
HP:0000023	Inguinal hernia
HP:0030260	Microphallus
HP:0010442	Polydactyly
HP:0006266	Small placenta

Annotation source: 32546215[PMID]_25262539[PMID]_31544945[PMID]