ORPHA:329178
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Synonyms: CDG syndrome type Iu · CDG-Iu · CDG1U · CMD with intellectual disability and severe epilepsy · Carbohydrate deficient glycoprotein syndrome type Iu · Congenital disorder of glycosylation type 1u · Congenital disorder of glycosylation type Iu · DPM2-CDG
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital muscular dystrophy with intellectual disability and severe epilepsy | CDG syndrome type Iu · CDG-Iu · CDG1U · CMD with intellectual disability and severe epilepsy · Carbohydrate deficient glycoprotein syndrome type Iu · Congenital disorder of glycosylation type 1u · Congenital disorder of glycosylation type Iu · DPM2-CDG |
| fr | Dystrophie musculaire congénitale avec déficience intellectuelle et épilepsie sévère | Anomalie congénitale de la glycosylation type 1u · Anomalie congénitale de la glycosylation type Iu · CDG-Iu · CDG1U · CMD avec déficience intellectuelle et épilepsie sévère · DMC avec déficience intellectuelle et épilepsie sévère · DPM2-CDG · Syndrome CDG type Iu · Syndrome des glycoprotéines déficientes en hydrates de carbone type Iu |
| de | Kongenitale Muskeldystrophie mit Intelligenzminderung und schwerer Epilepsie | CDG (Congenital Disorder of Glycosylation) Typ Iu · CDG-Iu · CDG-Syndrom Typ Iu · CDG1U · CMD mit Intelligenzminderung und schwerer Epilepsie · DPM2-CDG · Kohlenhydrat-defizientes Glykoprotein-Syndrom Iu · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Iu |
| es | Distrofia muscular congénita con discapacidad intelectual y epilepsia grave | CDG-Iu · CDG1U · DMC con discapacidad intelectual y epilepsia grave · DPM2-CDG · Síndrome CDG tipo Iu · Síndrome de la glicoproteína deficiente en carbohidrato tipo Iu · Trastorno congénito de la glicosilación tipo 1u · Trastorno congénito de la glicosilación tipo Iu |
| it | Distrofia muscolare congenita con disabilità intellettiva ed epilessia grave | CDG-Iu · CDG1U · CMD con deficit cognitivo ed epilessia grave · DPM2-CDG · Disturbo congenito della glicosilazione, tipo Iu · Sindrome CDG, tipo Iu · Sindrome delle glicoproteine carenti in carboidrati, tipo Iu |
| nl | Congenitale spierdystrofie met intellectuele achterstand en ernstige epilepsie | CDG-Iu · CDG-syndroom type Iu · CDG1U · CMD met intellectuele achterstand en ernstige epilepsie · Congenitale defecten van de glycosylering type 1u · Congenitale defecten van de glycosylering type Iu · Congenitale glycosylatiestoornis type 1u · Congenitale glycosylatiestoornis type Iu · DPM2-CDG · Koolhydraatdeficiënt glycoproteïne-syndroom type Iu |
| pt | Distrofia muscular congénita com perturbação do desenvolvimento intelectual e epilepsia grave | Síndrome DPM2 -CDG |
| pl | Wrodzona dystrofia mięśniowa z niepełnosprawnością intelektualną i cieżką padaczką | CDG1U · CDG-Iu · DPM2-CDG · Zespół CDG typu Iu · Wrodzone zaburzenie glikozylacji typu 1u · Wrodzone zaburzenie glikozylacji typu Iu · CMD z niepełnosprawnością intelektualną i cieżką padaczką · Zespół obniżonej glikozylacji glikoprotein typu Iu |
| cs | Vrozená svalová dystrofie s mentální retardací a těžkou epilepsií | CDG syndrom, typ Iu · CDG-Iu · CDG1U · Syndrom karbohydrátového deficitu glykoproteinu, typ Iu · Vrozená porucha glykosylace, typ Iu · DPM2-CDG · CMD s mentální retardací a těžkou epilepsií |
| uk | Вроджена мязова дистрофія з інтелектуальною недостатністю та важкою формою епілепсії | Вуглеводно-дефіцитний глікопротеїновий синдром типу Iu · Синдром CDG, тип Iu · CDG1U · CDG-Iu · CMD з інтелектуальною недостатністю та тяжкою формою епілепсії · Вроджене порушення глікозилювання типу 1u · Вроджене порушення глікозилювання типу Iu · DPM2-CDG |
| zh | 先天性肌营养不良伴智障和严重癫痫 | 糖蛋白碳水化合物缺陷综合征Iu型 |
| tr | Zihinsel yetersizlik ve ağır epilepsi ile seyreden doğumsal kas distrofisi | CDG1U · CDG-Iu · DPM2-CDG · CDG sendromu tip Iu · Glikozilasyonun tip 1u doğumsal bozukluğu · Doğumsal glikozilasyon tipi Iu bozukluğu · Zihinsel yetersizlik ve ağır epilepsi ile seyreden CMD · Karbonhidrat eksikliği olan glikoprotein sendromu tip Iu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615042 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | attributed | validated |
| MONDO | 0014023 | E | validated | |
| UMLS | C5190603 | E | validated | |
| GARD | 12416 | 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: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:370953Congenital muscular dystrophy due to dystroglycanopathy
rare genetic diseases; rare neurological diseases - ORPHA:309526Disorder of multiple 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 |
|---|---|---|---|---|---|---|---|---|
| DPM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3006 | ENSG00000136908 | 603564 | 9q34.11 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | 23109149[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 23109149[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.
6
HPO phenotypes
40 annotations · validated 2019-09-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0007179 | Absent smooth pursuit | |
| HP:0001344 | Absent speech | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0005781 | Contractures of the large joints | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0200134 | Epileptic encephalopathy | |
| HP:0001508 | Failure to thrive | |
| HP:0011169 | Generalized clonic seizure | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0000347 | Micrognathia | |
| HP:0002058 | Myopathic facies | |
| HP:0000938 | Osteopenia | |
| HP:0002421 | Poor head control | |
| HP:0000253 | Progressive microcephaly | |
| HP:0002650 | Scoliosis | |
| HP:0003642 | Type I transferrin isoform profile | |
| Occasional (29-5%) | ||
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0002002 | Deep philtrum | |
| HP:0000689 | Dental malocclusion | |
| HP:0010851 | EEG with burst suppression | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0003241 | External genital hypoplasia | |
| HP:0002240 | Hepatomegaly | |
| HP:0000218 | High palate | |
| HP:0000601 | Hypotelorism | |
| HP:0000294 | Low anterior hairline | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0000648 | Optic atrophy | |
| HP:0001561 | Polyhydramnios | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001976 | Reduced antithrombin III activity | |
| HP:0002098 | Respiratory distress | |
| HP:0003196 | Short nose | |
| HP:0000486 | Strabismus | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000243 | Trigonocephaly | |
Annotation source: 26453362[PMID]_23109149[PMID]_19901254[PMID]_20301507[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329178
- This record as JSON: /data/d/329178.json