SSR4-CDG
Synonyms: CDG syndrome type Iy · CDG-Iy · CDG1Y · Carbohydrate deficient glycoprotein syndrome type Iy · Congenital disorder of glycosylation type 1y · Congenital disorder of glycosylation type Iy
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene <i> SSR4</i> (Xq28).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SSR4-CDG | CDG syndrome type Iy · CDG-Iy · CDG1Y · Carbohydrate deficient glycoprotein syndrome type Iy · Congenital disorder of glycosylation type 1y · Congenital disorder of glycosylation type Iy |
| fr | SSR4-CDG | Anomalie congénitale de la glycosylation type 1y · Anomalie congénitale de la glycosylation type Iy · CDG-Iy · CDG1Y · Syndrome CDG type Iy · Syndrome des glycoprotéines déficientes en hydrates de carbone type Iy |
| de | SSR4-CDG | CDG (Congenital Disorder of Glycosylation) Typ 1y · CDG-Iy · CDG-Syndrom Typ Iy · CDG1Y · Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ Iy · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Iy |
| es | SSR4-CDG | Trastorno congénito de la glicosilación tipo Iy · CDG-Iy · CDG1Y · Síndrome CDG tipo Iy · Síndrome de glicoproteínas deficientes en carbohidratos tipo Iy · Trastorno congénito de la glicosilación tipo 1y |
| it | SSR4-CDG | CDG-Iy · CDG1Y · Disturbo congenito della glicosilazione, tipo 1y · Disturbo congenito della glicosilazione, tipo Iy · Sindrome CDG, tipo Iy · Sindrome della glicoproteine carenti in carboidrati, tipo Iy |
| nl | SSR4-CDG | CDG-Iy · CDG-syndroom type Iy · CDG1Y · Congenitale defecten van de glycosylering type 1y · Congenitale defecten van de glycosylering type Iy · Congenitale glycosylatiestoornis type 1y · Congenitale glycosylatiestoornis type Iy · Koolhydraatdeficiënt glycoproteïne-syndroom type Iy |
| pt | Glicogenose tipo Iy | CDG-Iy · CDG1Y · Doença congénita da glicosilação tipo 1y · Doença congénita da glicosilação tipo Iy · Síndrome CDG Iy · Síndrome de glicoproteína deficiente em carbohidratos tipo Iy |
| pl | SSR4-CDG | CDG1Y · CDG-Iy · Wrodzone zaburzenie glikozylacji typu 1y · Wrodzone zaburzenie glikozylacji typu Iy · Zespół CDG typu Iy · Zespół obniżonej glikozylacji glikoprotein typu Iy |
| cs | SSR4-CDG | CDG syndrom, typ Iy · CDG-Iy · CDG1Y · Carbohydrate deficient glycoprotein syndrom type Iy · Vrozená porucha glykosylace, typ 1y · Vrozená porucha glykosylace, typ Iy · Glykoproteinový syndrom deficitu sacharidů typu Iy |
| uk | SSR4-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу Iy · Синдром CDG, тип Iy · CDG1Y · CDG-ІІ · Вроджене порушення глікозилювання типу 1y · Вроджене порушення глікозилювання типу Iy |
| zh | SSR4基因型先天性糖基化障碍 | 缺糖基糖蛋白综合征Iy型 |
| tr | SSR4-CDG | CDG1Y · CDG-Iy · CDG sendromu tip Iy · Glikozilasyon Tip 1y'nin doğumsal bozukluğu · Glikozilasyon tipi Iy'nin doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip Iy |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300934 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | attributed | validated |
| MONDO | 0010490 | E | validated | |
| UMLS | C4012395 | E | validated | |
| GARD | 12405 | 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):
Parents in the classifications (4):
- 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SSR4 | Disease-causing germline mutation(s) in | Assessed | HGNC:11326 | ENSG00000180879 | 300090 | Xq28 | signal sequence receptor subunit 4 | 24218363[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 26264460[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26264460[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
28 annotations · validated 2017-02-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| Very frequent (99-80%) | ||
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0011339 | Abnormality of upper lip vermillion | |
| HP:0000490 | Deeply set eye | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000400 | Macrotia | |
| HP:0000486 | Strabismus | |
| HP:0002013 | Vomiting | |
| HP:0000154 | Wide mouth | |
| HP:0000687 | Widely spaced teeth | |
| Frequent (79-30%) | ||
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0001928 | Abnormality of coagulation | |
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0001331 | Absent septum pellucidum | |
| HP:0000085 | Horseshoe kidney | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001373 | Joint dislocation | |
| HP:0002650 | Scoliosis | |
| Very rare (<4-1%) | ||
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0001643 | Patent ductus arteriosus | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 26264460[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370927
- This record as JSON: /data/d/370927.json