ORPHA:244310
RFT1-CDG
Synonyms: CDG syndrome type In · CDG-In · CDG1N · Carbohydrate deficient glycoprotein syndrome type In · Congenital disorder of glycosylation type 1n · Congenital disorder of glycosylation type In · Man5GlcNAc2-PP-Dol flippase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene <i>RFT1</i> (3p21.1).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | RFT1-CDG | CDG syndrome type In · CDG-In · CDG1N · Carbohydrate deficient glycoprotein syndrome type In · Congenital disorder of glycosylation type 1n · Congenital disorder of glycosylation type In · Man5GlcNAc2-PP-Dol flippase deficiency |
| fr | Syndrome CDG-RFT1 | Anomalie congénitale de la glycosylation type 1n · Anomalie congénitale de la glycosylation type In · CDG-In · CDG1N · Déficit en Man5GlcNAc2-PP-Dol flippase · Syndrome CDG type In · Syndrome des glycoprotéines déficientes en hydrates de carbone type In |
| de | RFT1-CDG | Kohlenhydrat-defizientes Glykoprotein-Syndrom In · Kongenitaler Defekt der Glycoproteinbiosynthese Typ In · Man(5)GlcNAc (2)-PP-Dol-Flippase-Mangel · CDG (Congenital Disorder of Glycosylation) Typ In · CDG-In · CDG-Syndrom Typ In · CDG1N |
| es | RFT1-CDG | CDG-In · CDG1N · Deficiencia de Man5GlcNAc2-PP-Dol flipasa · Síndrome CDG tipo In · Síndrome de glicoproteínas deficientes en carbohidratos tipo In · Trastorno congénito de la glicosilación tipo 1n · Trastorno congénito de la glicosilación tipo In |
| it | RFT1-CDG | CDG-In · CDG1N · Deficit di Man5GlcNAc2-PP-Dol flippasi · Disturbo congenito della glicosilazione, tipo 1n · Disturbo congenito della glicosilazione, tipo In · Sindrome CDG, tipo In · Sindrome delle glicoproteine carenti in carboidrati, tipo In |
| nl | RFT1-CDG | Congenitale glycosylatiestoornis type In · Koolhydraatdeficiënt glycoproteïne-syndroom type In · Man5GlcNAc2-PP-Dol-flippasedeficiëntie · CDG-In · CDG-syndroom type In · CDG1N · Congenitale defecten van de glycosylering type 1n · Congenitale defecten van de glycosylering type In · Congenitale glycosylatiestoornis type 1n |
| pt | Síndrome CDG, tipo In | |
| pl | RFT1-CDG | CDG1N · CDG-In · Niedobór flipazy Man5GlcNAc2-PP-Dol · Wrodzone zaburzenie glikozylacji typu 1n · Wrodzone zaburzenie glikozylacji typu In · Zespół CDG typu In · Zespół obniżonej glikozylacji glikoprotein typu In |
| cs | RTF1-CDG | CDG syndrom, typ In · CDG In · CDG1N · Syndrom karbohydrátového deficitu glykoproteinu, typ In · Vrozená porucha glykosylace, typ 1n · Vrozená porucha glykosylace, typ In · Man5GlcNAc2-PP-Dol |
| uk | RFT1-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу В · Синдром CDG, тип В · CDG1N · CDG-In · Вроджене порушення глікозилювання типу 1n · Вроджене порушення глікозилювання типу В · Дефіцит фліппази Man5GlcNAc2-PP-Dol |
| zh | RFG1基因型先天性糖基化障碍 | 碳水化合物缺乏性糖蛋白综合征ln型 |
| tr | RFT1-CDG | CDG1N · CDG-In · CDG sendromu tip In · Man5GlcNAc2-PP-Dol flipaz eksikliği · Doğumsal glikozilasyon bozukluğu tip 1n · Doğumsal glikozilasyon bozukluğu tip In · Karbonhidrat eksikliği olan glikoprotein sendromu tip In |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612015 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0012783 | E | validated | |
| MeSH | C567437 | E | validated | |
| UMLS | C2677590 | E | validated | |
| GARD | 12394 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:371212Congenital disorder of glycosylation with deafness as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:371157Congenital disorder of glycosylation with hepatic involvement
rare genetic diseases; rare hepatic 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RFT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:30220 | ENSG00000163933 | 611908 | 3p21.1 | RFT1 glycolipid translocator homolog | 20301507[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 23111317[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23111317[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.
6
HPO phenotypes
22 annotations · validated 2017-02-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001250 | Seizure | |
| Very frequent (99-80%) | ||
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0000365 | Hearing impairment | |
| Frequent (79-30%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0001977 | Abnormal thrombosis | |
| HP:0001928 | Abnormality of coagulation | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0002240 | Hepatomegaly | |
| HP:0003186 | Inverted nipples | |
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000932 | Abnormality of the posterior cranial fossa | |
| HP:0001251 | Ataxia | |
| HP:0007146 | Bilateral basal ganglia lesions | |
| HP:0002059 | Cerebral atrophy | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0002401 | Stroke-like episode | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 23111317[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/244310
- This record as JSON: /data/d/244310.json