ORPHA:86816
Congenital analbuminemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital analbuminemia | |
| fr | Analbuminémie congénitale | |
| de | Analbuminämie, kongenitale | |
| es | Analbuminemia congénita | |
| it | Analbuminemia congenita | |
| nl | Congenitale analbuminemie | |
| pt | Analbuminemia congénita | |
| pl | Wrodzona analbuminemia | |
| cs | Vrozená analbuminémie | |
| uk | Вроджена альбумінемія | |
| zh | 先天性无白蛋白血症 | |
| tr | Doğumsal analbüminemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616000 | E | validated | |
| ICD-10 | E88.0 | NTBT | attributed | validated |
| ICD-11 | 5D0Y | NTBT | index | validated |
| MONDO | 0014449 | E | validated | |
| UMLS | C4305253 | E | validated | |
| GARD | 13056 | 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 (2):
- ORPHA:158300Rare genetic hematologic disease
rare genetic diseases - ORPHA:97992Rare hematologic disease
rare hematological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALB | Disease-causing germline mutation(s) in | Assessed | HGNC:399 | ENSG00000163631 | 103600 | 4q13.3 | albumin | 7937781[PMID]_15996651[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
19 annotations · validated 2019-10-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000969 | Edema | |
| HP:0003073 | Hypoalbuminemia | |
| Frequent (79-30%) | ||
| HP:0012378 | Fatigue | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0003077 | Hyperlipidemia | |
| HP:0003075 | Hypoproteinemia | |
| HP:0005413 | Increased alpha-globulin | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0009125 | Lipodystrophy | |
| HP:0010741 | Pedal edema | |
| HP:0001622 | Premature birth | |
| HP:0001518 | Small for gestational age | |
| Occasional (29-5%) | ||
| HP:0000282 | Facial edema | |
| HP:0030851 | Low pulse pressure | |
| HP:0011342 | Mild global developmental delay | |
| HP:0001513 | Obesity | |
| HP:0001562 | Oligohydramnios | |
| HP:0002783 | Recurrent lower respiratory tract infections | |
| HP:0005268 | Spontaneous abortion | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 31057599[PMID]_29214768[PMID]_29981851[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86816
- This record as JSON: /data/d/86816.json