ORPHA:247598
Neonatal intrahepatic cholestasis due to citrin deficiency
Synonyms: NICCD · Neonatal intrahepatic cholestasis caused by citrin deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neonatal intrahepatic cholestasis due to citrin deficiency | NICCD · Neonatal intrahepatic cholestasis caused by citrin deficiency |
| fr | Cholestase intrahépatique néonatale par déficit en citrine | NICCD |
| de | Neonatale intrahepatische Cholestase durch Citrin-Mangel | NICCD |
| es | Colestasis intrahepática neonatal por deficiencia de citrina | NICCD |
| it | Colestasi intraepatica neonatale da deficit di citrina | Colestasi intraepatica neonatale dovuta a deficit di citrina · NICCD |
| nl | Neonatale intrahepatische cholestase door deficiëntie van citrine | NICCD · Neonatale intrahepatische cholestase veroorzaakt door citrinedeficiëntie |
| pt | Colestase intra-hepática neonatal por défice de citrina | |
| pl | Cholestaza wewnątrzwątrobowa noworodków z powodu niedoboru cytrynianu | Cholestaza wewnątrzwątrobowa noworodków wywołana przez Niedobór cytrynianu · NICCD |
| cs | Neonatální intrahepatální cholestáza způsobená deficitem citrinu | NICCD · Neonatální intrahepatální cholestáza zpusobená deficitem citrinu · Neonatální intrahepatální cholestáza způsobená deficitem citrinu |
| uk | Неонатальний внутрішньопечінковий холестаз внаслідок дефіциту цитрину | Неонатальний внутрішньопечінковий холестаз, спричинений дефіцитом цитрину · NICCD |
| zh | 柠檬酸缺乏所致新生儿肝内胆汁淤积症 | 柠檬素缺乏所致新生儿肝内胆汁淤积症 |
| tr | Sitrin eksikliğine bağlı Yenidoğan intrahepatik kolestaz | NICCD · Sitrin eksikliğinden kaynaklanan yenidoğan intrahepatik kolestaz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605814 | E | validated | |
| ICD-10 | E72.2 | NTBT | attributed | validated |
| ICD-11 | 5C50.A3 | NTBT | index | validated |
| MONDO | 0011601 | E | validated | |
| UMLS | C1853942 | E | validated | |
| GARD | 10214 | 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:247582Citrin deficiency
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 |
|---|---|---|---|---|---|---|---|---|
| SLC25A13 | Disease-causing germline mutation(s) in | Assessed | HGNC:10983 | ENSG00000004864 | 603859 | 7q21.3 | solute carrier family 25 member 13 | 20301360[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
41 annotations · validated 2019-10-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003119 | Abnormal circulating lipid concentration | |
| HP:0001396 | Cholestasis | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0006254 | Elevated alpha-fetoprotein | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0030948 | Elevated gamma-glutamyltransferase level | |
| HP:0011966 | Elevated plasma citrulline | |
| HP:0002904 | Hyperbilirubinemia | |
| HP:0012024 | Hypergalactosemia | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0000952 | Jaundice | |
| HP:0003128 | Lactic acidosis | |
| HP:0008151 | Prolonged prothrombin time | |
| Frequent (79-30%) | ||
| HP:0010916 | Abnormal circulating alanine concentration | |
| HP:0010909 | Abnormality of arginine metabolism | |
| HP:0010903 | Abnormality of glutamine metabolism | |
| HP:0002014 | Diarrhea | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001397 | Hepatic steatosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0001987 | Hyperammonemia | |
| HP:0002161 | Hyperlysinemia | |
| HP:0003231 | Hypertyrosinemia | |
| Occasional (29-5%) | ||
| HP:0012278 | Abnormality of serine metabolism | |
| HP:0001903 | Anemia | |
| HP:0003233 | Decreased HDL cholesterol concentration | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0003235 | Hypermethioninemia | |
| HP:0003354 | Hyperthreoninemia | |
| HP:0003141 | Increased LDL cholesterol concentration | |
| HP:0040301 | Increased urinary glycerol | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002919 | Ketonuria | |
| HP:0004396 | Poor appetite | |
| Very rare (<4-1%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0000518 | Cataract | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 16311094[PMID]_19185551[PMID]_23430852[PMID]_21424115[PMID]_12424587[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247598
- This record as JSON: /data/d/247598.json