ORPHA:53693
GRACILE syndrome
Synonyms: Fellman disease · Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
An inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GRACILE syndrome | Fellman disease · Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome |
| fr | Syndrome GRACILE | Maladie de Fellman · Syndrome de retard de croissance-aminoacidurie-cholestase-surcharge en fer-acidose lactique-mort néonatale précoce |
| de | GRACILE-Syndrom | Fellman-Krankheit · Wachstumsverzögerung-Aminoazidurie-Cholestase-Eisenüberladung-Laktatazidose-frühzeitiger Tod-Syndrom |
| es | Síndrome GRACILE | Enfermedad de Fellman · Síndrome de restricción del crecimiento-aminoaciduria-colestasis-sobrecarga de hierro-acidosis láctica-muerte prematura |
| it | Sindrome GRACILE | Crescita limitata - aminoaciduria - colestasi - sovraccarico di ferro - morte prematura · Malattia di Fellman · Ritardo della crescita - aminoaciduria - colestasi - sovraccarico di ferro - morte prematura |
| nl | GRACILE-syndroom | Groeirestrictie - aminoacidurie - cholestase - ijzerstapeling - melkzuuracidose - vroeg overlijden-syndroom · Ziekte van Fellman |
| pt | Síndrome GRACILE | Síndrome Fellman · Síndrome de restrição de crescimento-aminoacidúria-colestase-sobrecarga de ferro-acidose láctica-morte precoce |
| pl | Zespół GRACILE | Ograniczenie wzrostu - aminoacyduria - cholestaza - przeładowanie żelazem - kwasica mleczanowa - wczesna śmierć · Choroba Fellmana · Opóźnienie wzrostu - aminoacyduria - cholestaza - przeładowanie żelazem - kwasica mleczanowa - wczesna śmierć |
| cs | GRACILE syndrom | Fellmanové nemoc · Syndrom zahrnující opoždění růstu, aminoacidurii, cholestázu, přetížení železem, laktátovou acidózu a předčasnou smrt · Syndrom zahrnující růstovou restrikci, aminoacidurii, cholestázu, přetížení železem, laktátovou acidózu a předčasnou smrt |
| uk | Синдром GRACILE | Хвороба Фельмана · Синдром затримки росту - аміноацидурії - холестазу - надлишку заліза - молочнокислого ацидозу - ранньої смерті |
| zh | GRACILE综合征 | 生长受限-氨基酸尿-胆汁淤积-铁超载-乳酸性酸中毒-早逝综合征 |
| tr | GRACILE sendromu | Fellman hastalığı · Büyüme kısıtlaması-aminoasidüri-kolestaz-aşırı demir yükü-laktik asidoz-erken ölüm sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603358 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | index | validated |
| MONDO | 0011308 | E | validated | |
| MeSH | C537934 | E | validated | |
| UMLS | C1864002 | E | validated | |
| GARD | 1 | E | validated | |
| MedDRA | 10081684 | 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 (2):
- ORPHA:309136Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
rare inborn errors of metabolism; rare genetic 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 |
|---|---|---|---|---|---|---|---|---|
| BCS1L | Disease-causing germline mutation(s) in | Assessed | HGNC:1020 | ENSG00000074582 | 603647 | 2q35 | BCS1 ubiquinol-cytochrome c reductase complex chaperone | 12215968[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Finland | Value and class | Validated | 22970607[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Finland | Class only | Not yet validated | 22970607[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Europe | 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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001396 | Cholestasis | |
| HP:0001394 | Cirrhosis | |
| HP:0012464 | Decreased transferrin saturation | |
| HP:0012465 | Elevated hepatic iron concentration | |
| HP:0000365 | Hearing impairment | |
| HP:0001397 | Hepatic steatosis | |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0003128 | Lactic acidosis | |
| HP:0001994 | Renal Fanconi syndrome | |
| Frequent (79-30%) | ||
| HP:0100613 | Death in early adulthood | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/53693
- This record as JSON: /data/d/53693.json