ORPHA:727915
APOB-related familial hypobetalipoproteinemia
Synonyms: APOB-FHBL · Homozygous familial hypobetalipoproteinemia · Apolipoprotein B deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | APOB-related familial hypobetalipoproteinemia | APOB-FHBL · Homozygous familial hypobetalipoproteinemia · Apolipoprotein B deficiency |
| fr | Hypobêtalipoprotéinémie familiale associée à APOB | Hypobêtalipoprotéinémie familiale homozygote · Déficit en apolipoprotéine B |
| de | APOB-assoziierte familiäre Hypobetalipoproteinämie | APOB-FHBL · Apolipoprotein-B-Mangel · Homozygote familiäre Hypobetalipoproteinämie |
| es | Hipobetalipoproteinemia familiar asociada al gen APOB | APOB-FHBL · Deficiencia de apolipoproteína B · Hipobetalipoproteinemia familiar homocigótica |
| it | Ipobetalipoproteinemia familiare correlata ad APOB | APOB-FHBL · Deficienza di apolipoproteina B · Ipobetalipoproteinemia familiare omozigote |
| nl | APOB-gerelateerde familiale hypobètalipoproteïnemie | APOB-FHBL · Deficiëntie van apolipoproteïne B · Homozygote familiale hypobètalipoproteïnemie |
| pt | APOB-related familial hypobetalipoproteinemia | |
| pl | APOB-related familial hypobetalipoproteinemia | = en |
| cs | APOB-related familial hypobetalipoproteinemia | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615558 | 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 (4):
- ORPHA:363306Genetic intestinal disease due to fat malabsorption
rare genetic diseases - ORPHA:31154Hypobetalipoproteinemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases - ORPHA:104005Intestinal disease due to fat malabsorption
rare gastroenterological diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| APOB | Disease-causing germline mutation(s) in | Assessed | HGNC:603 | ENSG00000084674 | 107730 | 2p24.1 | apolipoprotein B | 33983694[PMID]_40155282[PMID]_21874758[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 40155282[PMID]_ORPHANET |
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 40155282[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
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/727915
- This record as JSON: /data/d/727915.json