ORPHA:440731
L-ferritin deficiency
- Type
- Biological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | L-ferritin deficiency | |
| fr | Déficit en L-ferritine | |
| de | L-Ferritin-Mangel | |
| es | Deficiencia de L-ferritina | |
| it | Deficit di L-ferritina | |
| nl | L-ferritinedeficiëntie | |
| pt | Défice de ferritina-L | |
| pl | Niedobór L-ferrytyny | |
| cs | Deficit L-ferritinu | |
| uk | Дефіцит L-феритину | |
| zh | L-铁蛋白缺乏症 | |
| tr | L-ferritin eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615604 | E | validated | |
| ICD-10 | E83.1 | NTBT | attributed | validated |
| ICD-11 | 5C64.1Y | NTBT | attributed | validated |
| MONDO | 0014274 | E | validated | |
| UMLS | C3810090 | 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:309842Disorder of iron metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:158300Rare genetic hematologic disease
rare genetic diseases - ORPHA:97992Rare hematologic disease
rare hematological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FTL | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3999 | ENSG00000087086 | 134790 | 19q13.33 | ferritin light chain | 23940258[PMID] |
| FTL | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3999 | ENSG00000087086 | 134790 | 19q13.33 | ferritin light chain | 23940258[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 23940258[PMID]_15173247[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23940258[PMID]_15173247[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/440731
- This record as JSON: /data/d/440731.json