ORPHA:79242
Holocarboxylase synthetase deficiency
Synonyms: Early-onset multiple carboxylase deficiency · Neonatal multiple carboxylase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Holocarboxylase synthetase deficiency | Early-onset multiple carboxylase deficiency · Neonatal multiple carboxylase deficiency |
| fr | Déficit en holocarboxylase synthétase | Déficit multiple en carboxylases par déficit en holocarboxylase synthétase · Forme néonatale du déficit multiple en carboxylases |
| de | Holocarboxylase-Synthetase-Mangel | Multipler Carboxylase-Mangel, früh-einsetzender · Multipler Carboxylase-Mangel, neonataler |
| es | Deficiencia de holocarboxilasa sintetasa | Deficiencia múltiple de carboxilasas de inicio precoz · Deficiencia múltiple de carboxilasas neonatal |
| it | Deficit di olocarbossilasi sintetasi | Deficit multiplo di carbossilasi a esordio precoce · Deficit multiplo neonatale di carbossilasi |
| nl | Deficiëntie van holocarboxylase-synthetase | Multipele deficiëntie van carboxylase met vroege aanvang · Neonatale meervoudige deficiëntie van carboxylase |
| pt | Deficiência de holocarboxilase sintetase | |
| pl | Niedobór syntetazy holokarboksylazy | Złożony Niedobór karboksylazy noworodków · Złożony Niedobór karboksylazy o wczesnym początku |
| cs | Deficit holokarboxylázy syntetázy | Mnohočetný karboxylázový deficit s časným začátkem · Neonatální mnohočetný karboxylázový deficit |
| uk | Дефіцит синтетази голокарбоксилази | Ранній дефіцит множинної карбоксилази · Неонатальна множинна карбоксилазна недостатність |
| zh | 羧化酶合酶缺陷症 | 早发性多发性羧化酶缺乏 |
| tr | Holokarboksilaz sentetaz eksikliği | Yenidoğan çoklu karboksilaz eksikliği · Erken başlangıçlı çoklu karboksilaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253270 | E | validated | |
| ICD-10 | E53.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0009666 | E | validated | |
| MeSH | D028922 | E | validated | |
| UMLS | C0268581 | E | validated | |
| GARD | 2721 | 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 (1):
- ORPHA:309833Disorder of other vitamins and cofactors metabolism and transport
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 |
|---|---|---|---|---|---|---|---|---|
| HLCS | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4976 | ENSG00000159267 | 609018 | 21q22.13 | holocarboxylase synthetase | 16134170[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
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
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002039 | Anorexia | |
| HP:0001510 | Growth delay | |
| HP:0001252 | Hypotonia | |
| HP:0000737 | Irritability | |
| HP:0001096 | Keratoconjunctivitis | |
| HP:0002017 | Nausea and vomiting | |
| HP:0011127 | Perioral eczema | |
| HP:0001250 | Seizure | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0001987 | Hyperammonemia | |
| HP:0001992 | Organic aciduria | |
| HP:0002098 | Respiratory distress | |
| HP:0002789 | Tachypnea | |
| Occasional (29-5%) | ||
| HP:0001596 | Alopecia | |
| HP:0001251 | Ataxia | |
| HP:0001259 | Coma | |
| HP:0007549 | Desquamation of skin soon after birth | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0001254 | Lethargy | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 9 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79242
- This record as JSON: /data/d/79242.json