MCID: LFR008
MIFTS: 16

L-Ferritin Deficiency

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for L-Ferritin Deficiency

MalaCards integrated aliases for L-Ferritin Deficiency:

Name: L-Ferritin Deficiency 57 59 75 29 6 40 73
Lftd 57 75
L-Ferritin Deficiency, Dominant and Recessive 57
L-Ferritin Deficiency Dominant and Recessive 75

Characteristics:

Orphanet epidemiological data:

59
l-ferritin deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

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:

32

Classifications:



External Ids:

OMIM 57 615604
Orphanet 59 ORPHA440731
MeSH 44 D019189
SNOMED-CT via HPO 69 263681008 258211005
UMLS 73 C3810090

Summaries for L-Ferritin Deficiency

UniProtKB/Swiss-Prot : 75 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 restless legs syndrome. An important gene associated with L-Ferritin Deficiency is FTL (Ferritin Light Chain).

Description 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 restless legs syndrome 9.8

Symptoms & Phenotypes for L-Ferritin Deficiency

Symptoms via clinical synopsis from OMIM:

57
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

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 Year
1
Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome. ( 23940258 )
2013

Variations for L-Ferritin Deficiency

ClinVar genetic disease variations for L-Ferritin Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FTL NM_000146.3(FTL): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs139732572 GRCh37 Chromosome 19, 49468765: 49468765
2 FTL NM_000146.3(FTL): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs139732572 GRCh38 Chromosome 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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