ORPHA:692790
ATP6AP1-CDG
Synonyms: ATP6AP1-congenital disorder of glycosylation · ATPase H+ transporting accessory protein 1-congenital disorder of glycosylation · CDG-hepathopathy-hypogammaglobulinemia-metabolic cutis laxa syndrome · Carbohydrate deficient glycoprotein syndrome due to ATP6AP1
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ATP6AP1-CDG | ATP6AP1-congenital disorder of glycosylation · ATPase H+ transporting accessory protein 1-congenital disorder of glycosylation · CDG-hepathopathy-hypogammaglobulinemia-metabolic cutis laxa syndrome · Carbohydrate deficient glycoprotein syndrome due to ATP6AP1 |
| fr | ATP6AP1-CDG | Anomalie congénitale de la glycosylation par déficit en ATP6AP1 · Anomalie congénitale de la glycosylation par déficit en protéine ATPase H+ transporting accessory protein 1 · Syndrome de CDG-hypogammaglobulinémie-cutis laxa métabolique · Syndrome des glycoprotéines déficientes en hydrate de carbone par déficit en ATP6AP1 |
| de | ATP6AP1-CDG | ATP6AP1-Defekt · CDG-Hepatopathie-Hypogammaglobulinämie-Cutis-laxa-Syndrom · CDG-Syndrom Typ IIs · CDG2S · Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIs |
| es | Trastorno congénito de la glicosilación asociado al gen ATP6AP1 | ATP6AP1-CDG · Síndrome de glicoproteínas deficientes en carbohidratos asociado a ATP6AP1 · Síndrome de glicoproteínas deficientes en carbohidratos asociado al gen ATP6AP1 · Síndrome metabólico de cutis laxa-CDG-hepatopatía-hipogammaglobulinemia · Trastorno congénito de la glicosilación por defecto de la proteína accesoria ATPasa transportadora de H+ tipo 1 |
| it | ATP6AP1-CDG | Malattia congenita della glicosilazione correlata alla proteina accessoria 1 di trasporto di ATPasi H+ · Sindrome CDG-epatopatia-ipogammaglobulinemia-cutis laxa metabolica · Sindrome da glicoproteina ??carente in carboidrati correlata ad ATP6AP1 · Malattia congenita della glicosilazione correlata a ATP6AP1 |
| nl | ATP6AP1-CDG | ATP6AP1-congenitale glycosylatiestoornis · ATPase H+ transporterend accessoir proteïne 1-congenitale glycosylatiestoornis · CDG - hepatopathie - hypogammaglobulinemie - metabole cutis laxa-syndroom · koolhydraatdeficiënt glycoproteïne-syndroom door ATP6AP1 |
| pt | ATP6AP1-CDG | ATP6AP1-doença congénita da glicosilação · Proteína transportadora acessória de ATPase H+ 1-doença congénita da glicosilação · Síndrome CDG-hepatopatia-hipogamaglobulinemia-cútis laxa metabólica · Síndrome de deficiência de glicoproteína dos hidratos de carbono devido a ATP6AP1 |
| pl | ATP6AP1-CDG | = en |
| cs | ATP6AP1-CDG | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300972 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | attributed | 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 (5):
- ORPHA:696870Common variable immunodeficiency phenotype due to germinal monogenic mutation
rare genetic diseases; rare immunological diseases - ORPHA:371157Congenital disorder of glycosylation with hepatic involvement
rare genetic diseases; rare hepatic diseases - ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:371200Congenital disorder of glycosylation with skin involvement
rare genetic diseases; rare skin diseases - ORPHA:309778Defect in V-ATPase
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 |
|---|---|---|---|---|---|---|---|---|
| ATP6AP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:868 | ENSG00000071553 | 300197 | Xq28 | ATPase H+ transporting accessory protein 1 | 35732497[PMID]_27231034[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 | 27231034[PMID]_32395412[PMID]_35732497[PMID]_29396028[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 27231034[PMID]_32395412[PMID]_35732497[PMID]_29396028[PMID]_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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/692790
- This record as JSON: /data/d/692790.json