ORPHA:247585
Citrullinemia type II
Synonyms: Adult-onset citrin deficiency · Adult-onset citrullinemia type 2 · Adult-onset citrullinemia type II · CTLN2 · Citrullinemia type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Citrullinemia type II | Adult-onset citrin deficiency · Adult-onset citrullinemia type 2 · Adult-onset citrullinemia type II · CTLN2 · Citrullinemia type 2 |
| fr | Citrullinémie type II | CTLN2 · Citrullinémie type 2 · Citrullinémie type 2 de l'adulte · Citrullinémie type II de l'adulte · Déficit en citrine de l'adulte |
| de | Zitrullinämie Typ II | CTLN2 · Citrin-Mangel mit Beginn im Erwachsenenalter · Citrullinämie Typ II · Zitrullinämie Typ 2 · Zitrullinämie mit Beginn im Erwachsenenalter, Typ 2 · Zitrullinämie mit Beginn im Erwachsenenalter, Typ II · Zitrullinämie, adulte, Typ 2 |
| es | Citrulinemia tipo II | CTLN2 · Citrulinemia tipo 2 · Citrulinemia tipo 2 de inicio en el adulto · Citrulinemia tipo II de inicio en el adulto |
| it | Citrullinemia, tipo II | CTLN2 · Citrullinemia a esordio nell'età adulta, tipo 2 · Citrullinemia a esordio nell'età adulta, tipo II · Citrullinemia, tipo 2 · Deficit di citrina a esordio nell'età adulta |
| nl | Citrullinemie type II | Citrullinemie type 2 met aanvang op volwassen leeftijd · Citrullinemie type II met aanvang op volwassen leeftijd · CTLN2 · Citrinedeficiëntie met aanvang op volwassen leeftijd · Citrullinemie type 2 |
| pt | Citrulinémia, tipo II | |
| pl | Citrulinemia typu II | Citrulinemia typu 2 · Citrulinemia typu 2 o początku w wieku dorosłym · Citrulinemia typu II o początku w wieku dorosłym · CTLN2 · Niedobór cytrynianu o początku w wieku dorosłym |
| cs | Citrulinémie II. typu | CTLN 2 · Citrulinémie, typ 2 · Citrinový deficit s nástupem v dospělosti · Citrulinémie 2. typu s nástupem v dospělosti · Citrulinémie II. typu s nástupem v dospělosti |
| uk | Цитрулінемія, тип II | Дефіцит цитрину у дорослих · Цитрулінемія 2 типу, що починається у дорослих · Цитрулінемія, що починається у дорослих, тип II · Цитрулінемія типу 2 · CTLN2 |
| zh | 瓜氨酸血症II型 | 成人起病瓜氨酸血症II型 |
| tr | Sitrülinemi tip II | CTLN2 · Sitrülinemi tip 2 · Erişkin-başlangıçlı sitrin eksikliği · Erişkin-başlangıçlı sitrülinemi tip 2 · Erişkin-başlangıçlı sitrülinemi tip II |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603471 | E | validated | |
| ICD-10 | E72.2 | NTBT | attributed | validated |
| ICD-11 | 5C50.A3 | NTBT | index | validated |
| MONDO | 0016603 | E | validated | |
| MeSH | C538053 | E | validated | |
| UMLS | C1863844 | E | validated | |
| GARD | 10215 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:247582Citrin deficiency
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
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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] |
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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.
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HPO phenotypes
46 annotations · validated 2019-07-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008281 | Acute hyperammonemia | |
| HP:0045082 | Decreased body mass index | |
| HP:0011966 | Elevated plasma citrulline | |
| HP:0001397 | Hepatic steatosis | |
| Frequent (79-30%) | ||
| HP:0100738 | Abnormal eating behavior | |
| HP:0000718 | Aggressive behavior | |
| HP:0012164 | Asterixis | |
| HP:0001289 | Confusion | |
| HP:0031258 | Delirium | |
| HP:0000746 | Delusion | |
| HP:0002329 | Drowsiness | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0007159 | Fluctuations in consciousness | |
| HP:0000738 | Hallucinations | |
| HP:0002240 | Hepatomegaly | |
| HP:0003077 | Hyperlipidemia | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0003075 | Hypoproteinemia | |
| HP:0000737 | Irritability | |
| HP:0001254 | Lethargy | |
| HP:0002354 | Memory impairment | |
| HP:0030166 | Night sweats | |
| HP:0000711 | Restlessness | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| HP:0030765 | Sleep terror | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0002181 | Cerebral edema | |
| HP:0001259 | Coma | |
| HP:0003233 | Decreased HDL cholesterol concentration | |
| HP:0012569 | Delayed menarche | |
| HP:0002014 | Diarrhea | |
| HP:0010529 | Echolalia | |
| HP:0000805 | Enuresis | |
| HP:0001263 | Global developmental delay | |
| HP:0002480 | Hepatic encephalopathy | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0000752 | Hyperactivity | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0100785 | Insomnia | |
| HP:0100754 | Mania | |
| HP:0001733 | Pancreatitis | |
| HP:0000709 | Psychosis | |
| HP:0002013 | Vomiting | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20301360[PMID]_30588060[PMID]_18620775[PMID]_11153906[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247585
- This record as JSON: /data/d/247585.json