ORPHA:14
Abetalipoproteinemia
Synonyms: Bassen-Kornzweig disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Abetalipoproteinemia | Bassen-Kornzweig disease |
| fr | Abêtalipoprotéinémie | Maladie de Bassen-Kornzweig |
| de | Abetalipoproteinämie | Bassen-Kornzweig-Krankheit · Bassen-Kornzweig-Syndrom |
| es | Abetalipoproteinemia | Enfermedad de Bassen-Kornzweig |
| it | Abetalipoproteinemia | Malattia di Bassen-Kornzweig |
| nl | Abètalipoproteïnemie | Ziekte van Bassen-Kornzweig |
| pt | Abetalipoproteinemia | Acantocitose · Doença de Bassen-Kornzweig |
| pl | Abetalipoproteinemia | Choroba Bassena i Kornzweiga · Homozygotyczna rodzinna hipobetalipoproteinemia |
| cs | Abetalipoproteinemie | Homozygotní familiární hypobetalipoproteinémie · Bassenův-Kornzweigův syndrom · Bassen-Kornzweigův syndrom |
| uk | Абеталіпопротеїнемія | Хвороба Бассена-Корнцвейга · Гомозиготна сімейна гіпобеталіпопротеїнемія |
| zh | 无β脂蛋白血症 | 纯合子性家族性β-脂蛋白过少血症 |
| tr | Abetalipoproteinemi | Bassen-Kornzweig hastalığı · Homozigot ailesel hipobetalipoproteinemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200100 | BTNT | not yet validated | |
| ICD-10 | E78.6 | NTBT | inclusion | validated |
| ICD-11 | 5C81.1 | NTBT | index | validated |
| MONDO | 0008692 | E | validated | |
| MeSH | D000012 | E | validated | |
| UMLS | C0000744 | E | validated | |
| GARD | 5 | E | validated | |
| MedDRA | 10083851 | 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 (9):
- ORPHA:98096Autosomal recessive metabolic cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:98366Constitutional hemolytic anemia due to acanthocytosis
rare genetic diseases; rare hematological diseases - 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:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MTTP | Disease-causing germline mutation(s) in | Assessed | HGNC:7467 | ENSG00000138823 | 157147 | 4q23 | microsomal triglyceride transfer protein | 22378282[PMID]_24288038[PMID]_23556456[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30358967[PMID] |
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 30358967[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
63 annotations · validated 2020-03-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025201 | Abnormal circulating apolipoprotein concentration | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001927 | Acanthocytosis | |
| HP:0002630 | Fat malabsorption | |
| HP:0100513 | Low levels of vitamin E | |
| HP:0002570 | Steatorrhea | |
| Frequent (79-30%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001903 | Anemia | |
| HP:0001284 | Areflexia | |
| HP:0002028 | Chronic diarrhea | |
| HP:0000551 | Color vision defect | |
| HP:0003233 | Decreased HDL cholesterol concentration | |
| HP:0003563 | Decreased LDL cholesterol concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0002904 | Hyperbilirubinemia | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0003146 | Hypocholesterolemia | |
| HP:0012153 | Hypotriglyceridemia | |
| HP:0004905 | Low levels of vitamin A | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0003326 | Myalgia | |
| HP:0000662 | Nyctalopia | |
| HP:0000529 | Progressive visual loss | |
| HP:0001923 | Reticulocytosis | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0003487 | Babinski sign | |
| HP:0002136 | Broad-based gait | |
| HP:0025022 | Decreased erythrocyte sedimentation rate | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002066 | Gait ataxia | |
| HP:0001397 | Hepatic steatosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0007894 | Hypopigmentation of the fundus | |
| HP:0006858 | Impaired distal proprioception | |
| HP:0010831 | Impaired proprioception | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0003198 | Myopathy | |
| HP:0000938 | Osteopenia | |
| HP:0001761 | Pes cavus | |
| HP:0002403 | Positive Romberg sign | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0000575 | Scotoma | |
| HP:0003376 | Steppage gait | |
| HP:0001762 | Talipes equinovarus | |
| HP:0002493 | Upper motor neuron dysfunction | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0000618 | Blindness | |
| HP:0001640 | Cardiomegaly | |
| HP:0001394 | Cirrhosis | |
| HP:0001635 | Congestive heart failure | |
| HP:0012804 | Corneal ulceration | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0000821 | Hypothyroidism | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0000508 | Ptosis | |
| HP:0002878 | Respiratory failure | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 30358967[PMID]_30398540[PMID]_24288038[PMID]_21827896[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/14
- This record as JSON: /data/d/14.json