ORPHA:91131
DK1-CDG
Synonyms: CDG syndrome type Im · CDG-Im · CDG1M · Carbohydrate deficient glycoprotein syndrome type Im · Congenital disorder of glycosylation type 1m · Congenital disorder of glycosylation type Im · Dolichol kinase deficiency · Hypotonia and ichthyosis due to dolichol phosphate deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the <i>de novo</i> biosynthesis of dolichol phosphate. The mutations identified in the <i>DK1</i> gene led to a 96 to 98% reduction in DK activity.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DK1-CDG | CDG syndrome type Im · CDG-Im · CDG1M · Carbohydrate deficient glycoprotein syndrome type Im · Congenital disorder of glycosylation type 1m · Congenital disorder of glycosylation type Im · Dolichol kinase deficiency · Hypotonia and ichthyosis due to dolichol phosphate deficiency |
| fr | DK1-CDG | Anomalie congénitale de la glycosylation type 1m · Anomalie congénitale de la glycosylation type Im · CDG-Im · CDG1M · Déficit en dolichol kinase · Hypotonie et ichtyose par déficit en dolichol phosphate · Syndrome CDG type Im · Syndrome des glycoprotéines déficientes en hydrates de carbone type Im |
| de | DK1-CDG | CDG (Congenital Disorder of Glycosylation) Typ Im · CDG-Im · CDG-Syndrom Typ Im · CDG1M · Dolicholkinase-Mangel · Hypotonie und Ichthyose durch Dolicholphosphat-Mangel · Kohlenhydrat-defizientes Glykoprotein-Syndrom Im · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Im |
| es | DK1-CDG | CDG-Im · CDG1M · Deficiencia de dolicol quinasa · Hipotonía e ictiosis por deficiencia de dolicol fosfato · Síndrome CDG tipo 1m · Síndrome CDG tipo lm · Síndrome de glicoproteínas deficientes en carbohidratos tipo Im · Trastorno congénito de la glicosilación tipo 1m · Trastorno congénito de la glicosilación tipo Im |
| it | DK1-CDG | CDG-Im · CDG1M · Deficit di dolicol chinasi · Disturbo congenito della glicosilazione, tipo 1m · Disturbo congenito della glicosilazione, tipo Im · Ipotonia e ittiosi da deficit di dolicol fosfato · Sindrome CDG, tipo Im · Sindrome delle glicoproteine carenti in carboidrati, tipo Im |
| nl | DK1-CDG | CDG-Im · CDG-syndroom type Im · CDG1M · Congenitale defecten van de glycosylering type 1m · Congenitale defecten van de glycosylering type Im · Congenitale glycosylatiestoornis type 1m · Congenitale glycosylatiestoornis type Im · Dolicholkinasedeficiëntie · Hypotonie en ichthyosis als gevolg van dolicholfosfaatdeficiëntie · Koolhydraatdeficiënt glycoproteïne syndroom type Im |
| pt | Síndrome CDG tipo Im | |
| pl | DK1-CDG | CDG1M · CDG-Im · Hipotonia i rybia łuska spowodowane niedoborem fosforanu dolicholu · Niedobór kinazy dolicholu · Wrodzone zaburzenie glikozylacji typu 1m · Wrodzone zaburzenie glikozylacji typu Im · Zespół CDG typu Im · Zespół obniżonej glikozylacji glikoprotein typu Im |
| cs | DK1-CDG | CDG syndrom, typ Im · CDG-Im · CDG1M · Syndrom karbohydrát deficientního glykoproteinu, typ Im · Vrozená porucha glykosylace, typ 1m · Vrozené poruchy glykosylace, typ Im · Deficit dolichol kinázy · Hypotonie a ichtyóza způsobené deficitem dolichol fosfátu |
| uk | DK1-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу Im · Синдром CDG, тип Im · CDG1M · CDG-Im · Вроджене порушення глікозилювання типу 1m · Вроджене порушення глікозилювання типу Im · Дефіцит доліхолкінази · Гіпотонія та іхтіоз через дефіцит доліхола фосфату |
| zh | DK1-先天性糖基化疾病 | 多利酚磷酸盐缺乏所致肌张力低下和鱼鳞病 |
| tr | DK1-CDG | CDG1M · CDG-Im · CDG sendromu tip Im · Dolikol kinaz eksikliği · Doğumsal glikozilasyon bozukluğu tip 1m · Doğumsal glikozilasyon bozukluğu tip Im · Karbonhidrat eksikliği olan glikoprotein sendromu tip Im · Dolikol fosfat eksikliğine bağlı hipotoni ve iktiyoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610768 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | index | validated |
| MONDO | 0012556 | E | validated | |
| MeSH | C563666 | E | validated | |
| UMLS | C1835849 | E | validated | |
| GARD | 12393 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:281244Autosomal ichthyosis syndrome with other associated signs
rare genetic diseases; rare skin diseases - ORPHA:371176Congenital disorder of glycosylation with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:371200Congenital disorder of glycosylation with skin involvement
rare genetic diseases; rare skin diseases - ORPHA:309526Disorder of multiple glycosylation
rare inborn errors of metabolism; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DOLK | Disease-causing germline mutation(s) in | Assessed | HGNC:23406 | ENSG00000175283 | 610746 | 9q34.11 | dolichol kinase | 20301507[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 23890587[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23890587[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.
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HPO phenotypes
32 annotations · validated 2021-10-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0031319 | Cardiomyocyte hypertrophy | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0003642 | Type I transferrin isoform profile | |
| Frequent (79-30%) | ||
| HP:0001635 | Congestive heart failure | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0008064 | Ichthyosis | |
| HP:0031329 | Interstitial cardiac fibrosis | |
| HP:0011342 | Mild global developmental delay | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0011675 | Arrhythmia | |
| HP:0000729 | Autistic behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0025335 | Delayed ability to stand | |
| HP:0031936 | Delayed ability to walk | |
| HP:0010845 | EEG with generalized slow activity | |
| HP:0008947 | Floppy infant | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0012469 | Infantile spasms | |
| HP:0001249 | Intellectual disability | |
| HP:0001270 | Motor delay | |
| HP:0010841 | Multifocal epileptiform discharges | |
| HP:0000253 | Progressive microcephaly | |
| HP:0003323 | Progressive muscle weakness | |
| HP:0000817 | Reduced eye contact | |
| HP:0006829 | Severe muscular hypotonia | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0000505 | Visual impairment | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 23890587[PMID]_22242004[PMID]_23890587[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91131
- This record as JSON: /data/d/91131.json