LFTD
MCID: LFR008
MIFTS: 19

L-Ferritin Deficiency (LFTD)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for L-Ferritin Deficiency

MalaCards integrated aliases for L-Ferritin Deficiency:

Name: L-Ferritin Deficiency 57 58 72 29 6 39 70
Lftd 57 72
L-Ferritin Deficiency, Dominant and Recessive 57
L-Ferritin Deficiency Dominant and Recessive 72

Characteristics:

Orphanet epidemiological data:

58
l-ferritin deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
two unrelated individuals have been reported (last curated january 2014)
one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation.


HPO:

31

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM® 57 615604
MeSH 44 D019189
Orphanet 58 ORPHA440731
UMLS 70 C3810090

Summaries for L-Ferritin Deficiency

UniProtKB/Swiss-Prot : 72 L-ferritin deficiency: A condition characterized by low levels of ferritin in serum and tissues in the absence of other hematological symptoms. Seizures and mild neuropsychologic impairment may manifest in individuals with complete ferritin deficiency.

MalaCards based summary : L-Ferritin Deficiency, also known as lftd, is related to seizure disorder. An important gene associated with L-Ferritin Deficiency is FTL (Ferritin Light Chain). Related phenotypes are generalized-onset seizure and restless legs

More information from OMIM: 615604

Related Diseases for L-Ferritin Deficiency

Diseases related to L-Ferritin Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 seizure disorder 9.9

Symptoms & Phenotypes for L-Ferritin Deficiency

Human phenotypes related to L-Ferritin Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 generalized-onset seizure 31 very rare (1%) HP:0002197
2 restless legs 31 very rare (1%) HP:0012452
3 decreased circulating ferritin concentration 31 very rare (1%) HP:0012343
4 alopecia 31 HP:0001596

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Hair:
hair loss, progressive (homozygous patient)

Hematology:
normal hematologic parameters (both patients)

Neurologic Central Nervous System:
idiopathic generalized epilepsy in childhood (homozygous patient)
neurocognitive impairment, mild (homozygous patient)

Laboratory Abnormalities:
undetectable serum l-transferrin (homozygous patient)
decreased serum l-transferrin (heterozygous patient)

Clinical features from OMIM®:

615604 (Updated 05-Apr-2021)

Drugs & Therapeutics for L-Ferritin Deficiency

Search Clinical Trials , NIH Clinical Center for L-Ferritin Deficiency

Genetic Tests for L-Ferritin Deficiency

Genetic tests related to L-Ferritin Deficiency:

# Genetic test Affiliating Genes
1 L-Ferritin Deficiency 29 FTL

Anatomical Context for L-Ferritin Deficiency

Publications for L-Ferritin Deficiency

Articles related to L-Ferritin Deficiency:

# Title Authors PMID Year
1
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms. 6 57
15173247 2004
2
Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome. 61 57
23940258 2013
3
Analyzing and Decoding Natural Reach-and-Grasp Actions Using Gel, Water and Dry EEG Systems. 61
32903775 2020
4
L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases. 61
30678075 2019
5
Practical landmarks for visual field disability in glaucoma. 61
22797319 2012
6
Contact lens case cleaning procedures affect storage solution pH and osmolality. 61
21912303 2011

Variations for L-Ferritin Deficiency

ClinVar genetic disease variations for L-Ferritin Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FTL NM_000146.4(FTL):c.1A>G (p.Met1Val) SNV Pathogenic 96689 rs139732572 GRCh37: 19:49468765-49468765
GRCh38: 19:48965508-48965508

Expression for L-Ferritin Deficiency

Search GEO for disease gene expression data for L-Ferritin Deficiency.

Pathways for L-Ferritin Deficiency

GO Terms for L-Ferritin Deficiency

Sources for L-Ferritin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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