ORPHA:675767

Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

Synonyms: SCN-developmental delay syndrome due to SRP54 deficiency · Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency	SCN-developmental delay syndrome due to SRP54 deficiency · Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency
fr	Syndrome de neutropénie congénitale sévère-retard du développement par déficit en SRP54	Syndrome de NCS-retard du développement par déficit en SRP54 · Syndrome de neutropénie congénitale sévère-retard du développement par déficit en signal recognition protein 54
de	Schwere kongenitale Neutropenie-Entwicklungsverzögerung-Syndrom durch SRP54-Mangel	SCN-Entwicklungsverzögerung-Syndrom durch SRP54-Defizienz
es	Síndrome de neutropenia congénita grave-retraso del desarrollo por deficiencia de SRP54	Síndrome de NCG-retraso del desarrollo por deficiencia de SRP54 · Síndrome de neutropenia congénita grave-retraso del desarrollo por deficiencia de la proteína 54 de reconocimiento de señales
it	Sindrome neutropenia congenita grave-ritardo dello sviluppo-insufficienza pancreatica da deficit di SRP54	Sindrome NCG-ritardo dello sviluppo-insufficienza pancreatica da deficit di SRP54 · Sindrome neutropenia congenita grave-ritardo dello sviluppo-insufficienza pancreatica da deficit della proteina di riconoscimento del segnale 54
nl	Ernstige congenitale neutropenie - ontwikkelingsachterstand-syndroom door SRP54-deficiëntie	Ernstige congenitale neutropenie - ontwikkelingsachterstand-syndroom door deficiëntie van 'signal recognition'- proteïne 54 · SCN - ontwikkelingsachterstand-syndroom door SRP54-deficiëntie
pt	Síndrome de neutropenia congénita grave-perturbação do desenvolvimento-insuficiência pancreática devida a deficiência SRP54	Síndrome de SCN-perturbação do desenvolvimento-insuficiência devida a deficiência SRP54 · Síndrome de neutropenia congénita grave-perturbação do desenvolvimento por deficiência da proteína 54 de reconhecimento de sinal
pl	Zespół ciężkiej wrodzonej neutropenii, opóźnienia rozwoju i niewydolności trzustki spowodowanej niedoborem SRP54	= en
cs	Syndrom související s deficitem SRP54 zahrnující těžkou vrozenou neutropenii, opožděný vývoj a pankreatickou insuficienci	= en
uk	Синдром тяжкої вродженої нейтропенії-затримки розвитку-недостатності підшлункової залози, зумовлений дефіцитом SRP54	Синдром затримки розвитку підшлункової залози - панкреатична недостатність внаслідок дефіциту SRP54 · Тяжка вроджена нейтропенія - синдром затримки розвитку та недостатності підшлункової залози внаслідок дефіциту білка розпізнавання сигналів 54

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	618752	E	validated
MONDO	0032899	E	validated
MONDO	32899	E	validated
UMLS	C5925083	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:98004Rare immune disease

Parents in the classifications (2):

ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
ORPHA:331184Syndrome with congenital neutropenia as a major feature
rare genetic diseases; rare immunological diseases; rare transplant-related disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
SRP54	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:11301	ENSG00000100883	604857	14q13.2	signal recognition particle 54	29914977[PMID]_30237254[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		26 cases	Worldwide	Case(s)	Validated	28972538[PMID]_29914977[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	28972538[PMID]_29914977[PMID]_ORPHANET

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

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/675767
This record as JSON: /data/d/675767.json