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L-ferritin deficiency(LFTD)

MedGen UID:: 816420
•Concept ID:: C3810090
•: Disease or Syndrome

Synonyms:	L-FERRITIN DEFICIENCY, AUTOSOMAL DOMINANT; LFTD
SNOMED CT:	L-ferritin deficiency (1217208003); LFTD - L-ferritin deficiency (1217208003)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	FTL (19q13.33)

Monarch Initiative:	MONDO:0014274
OMIM®:	615604
Orphanet:	ORPHA440731

Definition

A rare genetic haematologic disease characterised by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalised seizures, atypical restless leg syndrome, mild neuropsychologic impairment and progressive hair loss. Asymptomatic cases have also been reported. [from SNOMEDCT_US]

Clinical features

From HPO

Restless legs

MedGen UID:: 48427
•Concept ID:: C0035258
•: Disease or Syndrome

Restless Leg Syndrome (RLS) is a condition characterized by an uncomfortable and restless sensation in the legs that occurs after going to bed, often leading to insomnia.

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Generalized-onset seizure

MedGen UID:: 115963
•Concept ID:: C0234533
•: Disease or Syndrome

A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.

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Decreased circulating ferritin concentration

MedGen UID:: 66021
•Concept ID:: C0241012
•: Finding

Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.

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Alopecia

MedGen UID:: 7982
•Concept ID:: C0002170
•: Finding

A noncongenital process of hair loss, which may progress to partial or complete baldness.

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Abnormality of metabolism/homeostasis
- Decreased circulating ferritin concentration
Abnormality of the integument
- Alopecia
Abnormality of the nervous system
- Generalized-onset seizure
- Restless legs

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVL-ferritin deficiency

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Disorder by Site
      - Hematopoietic and Lymphoid System Disorder
        Hematologic disorder
        L-ferritin deficiency

Recent clinical studies

Clinical prediction guides

Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.

Cozzi A, Santambrogio P, Privitera D, Broccoli V, Rotundo LI, Garavaglia B, Benz R, Altamura S, Goede JS, Muckenthaler MU, Levi S
J Exp Med 2013 Aug 26;210(9):1779-91. Epub 2013 Aug 12 doi: 10.1084/jem.20130315. PMID: 23940258 Free PMC Article

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L-ferritin deficiency(LFTD)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

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