ORPHA:370924

STT3B-CDG

Synonyms: CDG syndrome type Ix · CDG-Ix · CDG1X · Carbohydrate deficient glycoprotein syndrome type Ix · Congenital disorder of glycosylation type 1x · Congenital disorder of glycosylation type Ix

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
Status: active

STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene <i>STT3B</i> (3p24.1).

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	STT3B-CDG	CDG syndrome type Ix · CDG-Ix · CDG1X · Carbohydrate deficient glycoprotein syndrome type Ix · Congenital disorder of glycosylation type 1x · Congenital disorder of glycosylation type Ix
fr	STT3B-CDG	Anomalie congénitale de la glycosylation type 1x · Anomalie congénitale de la glycosylation type Ix · CDG-Ix · CDG1X · Syndrome CDG type Ix · Syndrome des glycoprotéines déficientes en hydrates de carbone type Ix
de	STT3B-CDG	CDG (Congenital Disorder of Glycosylation) Typ 1x · CDG-Ix · CDG-Syndrom Typ Ix · CDG1X · Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ Ix · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ix
es	STT3B-CDG	CDG-Ix · CDG1X · Síndrome CDG tipo Ix · Síndrome de glicoproteínas deficientes en carbohidratos tipo Ix · Trastorno congénito de la glicosilación tipo 1x · Trastorno congénito de la glicosilación tipo Ix
it	STT3B-CDG	CDG-Ix · CDG1X · Disturbo congenito della glicosilazione, tipo 1x · Disturbo congenito della glicosilazione, tipo Ix · Sindrome CDG, tipo Ix · Sindrome delle glicoproteine carenti in carboidrati, tipo Ix
nl	STT3B-CDG	CDG-Ix · CDG-syndroom type Ix · CDG1X · Congenitale defecten van de glycosylering type 1x · Congenitale defecten van de glycosylering type Ix · Congenitale glycosylatiestoornis type 1x · Congenitale glycosylatiestoornis type Ix · Koolhydraatdeficiënt glycoproteïne-syndroom type Ix
pt	Glicogenose tipo Ix	CDG-Ix · Doença congénita da glicosilação tipo Ix · STT3B-CDG · Síndrome CDG tipo Ix · Síndrome de glicoproteína deficiente em carbohidratos tipo Ix
pl	STT3B-CDG	Carbohydrate deficient glycoprotein syndrome type Ix · CDG1X · CDG-Ix · Wrodzone zaburzenie glikozylacji typu 1x · Wrodzone zaburzenie glikozylacji typu Ix · Zespół CDG typu Ix
cs	STT3B-CDG	CDG syndrom, typ Ix · CDG-Ix · CDG1X · Carbohydrate deficient glycoprotein syndrom type Ix · Vrozená porucha glykosylace, typ 1x · Vrozená porucha glykosylace, typ Ix · Glykoproteinový syndrom deficitu sacharidů typu Ix
uk	STT3B-CDG	Вуглеводно-дефіцитний глікопротеїновий синдром типу Ix · Синдром CDG, тип Ix · CDG1X · CDG-Ix · Вроджене порушення глікозилювання типу 1х · Вроджене порушення глікозилювання типу Ix
zh	STT3B基因型先天性糖基化障碍	缺糖基糖蛋白综合征Ix型
tr	STT3B-CDG	CDG1X · CDG-Ix · CDG sendromu tip Ix · Tip 1'in doğumsal bozukluğu · Doğumsal glikozilasyon tipi Ix bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip Ix

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	615597	E		validated
ICD-10	E77.8	NTBT	attributed	validated
ICD-11	5C54.0	NTBT	attributed	validated
MONDO	0014271	E		validated
MeSH	C535751	E		validated
UMLS	C2931007	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:98006Rare neurologic disease

Parents in the classifications (3):

ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases
ORPHA:309347Disorder of protein N-glycosylation
rare inborn errors of metabolism; rare genetic diseases
ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
STT3B	Disease-causing germline mutation(s) in	Assessed	HGNC:30611	ENSG00000163527	608605	3p23	STT3 oligosaccharyltransferase complex catalytic subunit B	23842455[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		1 cases	Worldwide	Case(s)	Validated	23842455[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_23842455[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.

HPO phenotypes

17 annotations · validated 2017-02-08

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0012345	Abnormal glycosylation
HP:0001272	Cerebellar atrophy
HP:0001508	Failure to thrive
HP:0011968	Feeding difficulties
HP:0001290	Generalized hypotonia
HP:0001263	Global developmental delay
HP:0001249	Intellectual disability
HP:0000252	Microcephaly
HP:0001250	Seizure
Frequent (79-30%)
HP:0000078	Abnormality of the genital system
HP:0000028	Cryptorchidism
HP:0001511	Intrauterine growth retardation
HP:0000054	Micropenis
HP:0000648	Optic atrophy
HP:0002098	Respiratory distress
HP:0000046	Small scrotum
HP:0001873	Thrombocytopenia

Run the differential on the 9 obligate / very frequent terms

Annotation source: 23842455[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/370924
This record as JSON: /data/d/370924.json