ORPHA:356961
SLC35A2-CDG
Synonyms: CDG-IIm · CDG2M · Congenital disorder of glycosylation type 2m · Congenital disorder of glycosylation type IIm · CDG syndrome type IIm
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SLC35A2-CDG | CDG-IIm · CDG2M · Congenital disorder of glycosylation type 2m · Congenital disorder of glycosylation type IIm · CDG syndrome type IIm |
| fr | Syndrome CDG-SLC35A2 | Anomalie congénitale de la glycosylation type 2m · Anomalie congénitale de la glycosylation type IIm · CDG-IIm · CDG2M · Syndrome CDG type IIm · Syndrome des glycoprotéines déficientes en hydrates de carbone type IIm |
| de | SLC35A2-CDG | CDG (Congenital Disorder of Glycosylation) Typ IIm · CDG-IIm · CDG-Syndrom Typ IIm · CDG2M · Kohlenhydrat-defizientes Glykoprotein-Syndrom 2m · Kongenitaler Defekt der Glycoproteinbiosynthese Typ 2m |
| es | SLC35A2-CDG | CDG-IIm · CDG2M · Síndrome CDG tipo IIm · Trastorno congénito de la glicosilación tipo 2m · Trastorno congénito de la glicosilación tipo IIm |
| it | SLC35A2-CDG | CDG-IIm · CDG2M · Disturbo congenito della glicosilazione, tipo 2m · Disturbo congenito della glicosilazione, tipo IIm · Sindrome CDG, tipo IIm |
| nl | SLC35A2-CDG | CDG-IIm · CDG-syndroom type IIm · CDG2M · Congenitale defecten van de glycosylering type 2m · Congenitale defecten van de glycosylering type IIm · Congenitale glycosylatiestoornis type 2m · Congenitale glycosylatiestoornis type IIm |
| pt | Síndrome SLC35A2 -CDG | |
| pl | SLC35A2-CDG | CDG2M · CDG-IIm · Wrodzone zaburzenie glikozylacji typu 2m · Zespół CDG typu 2m · Zespół CDG typu IIm |
| cs | SLC35A2-CDG | CDG syndrom, typ IIm · CDG-IIm · CDG2M · Vrozená porucha glykosylace typ 2m · Vrozená porucha glykosylace typ IIm |
| uk | SLC35A2-CDG | Синдром CDG, тип IIm · CDG2M · CDG-IIm · Вроджене порушення глікозилювання типу 2m · Вроджене порушення глікозилювання типу IIm |
| zh | SLC35A2基因相关先天性糖蛋白糖基化障碍 | 先天性糖基化障碍IIm型 |
| tr | SLC35A2-CDG | CDG2M · CDG-IIm · CDG sendromu tip IIm · Glikozilasyon tip 2m'nin doğumsal bozukluğu · Tip IIm'nin doğumsal bozukluğu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300896 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | attributed | validated |
| MONDO | 0010478 | E | validated | |
| UMLS | C3806688 | E | validated | |
| GARD | 12403 | 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 (6):
- ORPHA:371235Congenital disorder of glycosylation with developmental anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:309526Disorder of multiple glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC35A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11022 | ENSG00000102100 | 314375 | Xp11.23 | solute carrier family 35 member A2 | 23561849[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 25778940[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
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HPO phenotypes
74 annotations · validated 2019-08-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0012345 | Abnormal glycosylation | |
| HP:0000478 | Abnormality of the eye | |
| HP:0001155 | Abnormality of the hand | |
| HP:0002715 | Abnormality of the immune system | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0000951 | Abnormality of the skin | |
| HP:0045060 | Aplasia/hypoplasia involving bones of the extremities | |
| HP:0008936 | Axial hypotonia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0012348 | Decreased galactosylation of N-linked protein glycosylation | |
| HP:0012363 | Decreased sialylation of O-linked protein glycosylation | |
| HP:0012448 | Delayed myelination | |
| HP:0025053 | Elevated brain N-acetyl aspartate level by MRS | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0011968 | Feeding difficulties | |
| HP:0002540 | Inability to walk | |
| HP:0012469 | Infantile spasms | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0011314 | Abnormality of long bone morphology | |
| HP:0012803 | Anisometropia | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0002059 | Cerebral atrophy | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0002673 | Coxa valga | |
| HP:0001363 | Craniosynostosis | |
| HP:0011185 | EEG with focal epileptiform discharges | |
| HP:0000577 | Exotropia | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0003186 | Inverted nipples | |
| HP:0003121 | Limb joint contracture | |
| HP:0001840 | Metatarsus adductus | |
| HP:0007704 | Paroxysmal involuntary eye movements | |
| HP:0000826 | Precocious puberty | |
| HP:0002686 | Prenatal maternal abnormality | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0200012 | Short corpus callosum | |
| HP:0001285 | Spastic tetraparesis | |
| HP:0000486 | Strabismus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000474 | Thickened nuchal skin fold | |
| Very rare (<4-1%) | ||
| HP:0012210 | Abnormal renal morphology | |
| HP:0002418 | Abnormality of midbrain morphology | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0002539 | Cortical dysplasia | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0030043 | Hip subluxation | |
| HP:0025517 | Hypoplastic hippocampus | |
| HP:0025484 | Increased circulating thyroglobulin concentration | |
| HP:0001382 | Joint hypermobility | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0000938 | Osteopenia | |
| HP:0005736 | Short tibia | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0008695 | Transient nephrotic syndrome | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 30194038[PMID]_30746764[PMID]_30817854[PMID]_20301507[PMID]_23561849[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/356961
- This record as JSON: /data/d/356961.json