MCID: HRD028
MIFTS: 32

Hereditary Folate Malabsorption malady

Genetic diseases, Gastrointestinal diseases, Blood diseases, Rare diseases, Endocrine diseases categories

Summaries for Hereditary Folate Malabsorption

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22Genetics Home Reference, 48OMIM, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 Hereditary folate malabsorption is a disorder that interferes with the body's ability to absorb certain B vitamins (called folates) from food. Folates are important for many cell functions, including the production of DNA and its chemical cousin, RNA.

MalaCards: Hereditary Folate Malabsorption, is also known as congenital folate malabsorption, and has symptoms including recurrent urinary infections, pallor and thrombocytopenia/thrombopenia. An important gene associated with Hereditary Folate Malabsorption is SLC46A1 (solute carrier family 46 (folate transporter), member 1). Affiliated tissues include thyroid, b cells and bone marrow.

Description from OMIM:48 229050

GeneReviews summary for folate-mal

Aliases & Classifications for Hereditary Folate Malabsorption

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Sources:
20GeneReviews, 21GeneTests, 22Genetics Home Reference, 50Orphanet, 63UMLS, 48OMIM, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
hereditary folate malabsorption:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hereditary folate malabsorption 20 21 22 50
congenital folate malabsorption 20 22 50
congenital defect of folate absorption 22 63
thyroid hormone plasma membrane transport defect 63
folate malabsorption, hereditary 48
folic acid transport defect 22


External Ids:

OMIM48 229050
ICD10 via Orphanet27 D52.8

Related Diseases for Hereditary Folate Malabsorption

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Symptoms for Hereditary Folate Malabsorption

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

229050

Clinical features from OMIM:

229050

Symptoms:

50 (show all 27)
  • recurrent urinary infections
  • pallor
  • thrombocytopenia/thrombopenia
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • anorexia
  • anomalies of the immunitary system
  • eosinophils anomalies/hypereosinophilia
  • bone marrow failure/pancytopenia
  • glossitis
  • megaloblastic anemia
  • oral mucosa disease/cheilitis
  • peripheral neuropathy
  • movement disorder
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • motor deficit/trouble
  • hypereflexia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intracranial/cerebral calcifications
  • psychic/behavioural troubles
  • repeat respiratory infections
  • malabsorption/chronic diarrhea/steatorrhea
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • autosomal recessive inheritance

Drugs & Therapeutics for Hereditary Folate Malabsorption

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Hereditary Folate Malabsorption

Drug clinical trials:

Search ClinicalTrials for Hereditary Folate Malabsorption

Search NIH Clinical Center for Hereditary Folate Malabsorption

Search CenterWatch for Hereditary Folate Malabsorption

Genetic Tests for Hereditary Folate Malabsorption

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21GeneTests
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Genetic tests related to Hereditary Folate Malabsorption:

id Genetic test Affiliating Genes
1 Hereditary Folate Malabsorption21 SLC46A1

Anatomical Context for Hereditary Folate Malabsorption

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34MalaCards
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MalaCards organs/tissues related to Hereditary Folate Malabsorption:

34
Thyroid, B cells, Bone marrow, Bone

Animal Models for Hereditary Folate Malabsorption or affiliated genes

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Publications for Hereditary Folate Malabsorption

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53PubMed
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Articles related to Hereditary Folate Malabsorption:

(show all 17)
idTitleAuthorsYear
1
A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption. (23816405)
2013
2
A P425R mutation of the proton-coupled folate transporter causing hereditary folate malabsorption produces a highly selective alteration in folate binding. (22345511)
2012
3
Functional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption. (22843796)
2012
4
Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico. (21489556)
2011
5
A mouse model of hereditary folate malabsorption: deletion of the PCFT gene leads to systemic folate deficiency. (21346251)
2011
6
Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption. (21333572)
2011
7
Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption. (20686069)
2010
8
A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption. (20005757)
2010
9
Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption. (20795774)
2010
10
Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption. (20805364)
2010
11
Hereditary folate malabsorption: a positively charged amino acid at position 113 of the proton-coupled folate transporter (PCFT/SLC46A1) is required for folic acid binding. (19508863)
2009
12
A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function. (18559978)
2008
13
The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption. (18718264)
2008
14
The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. (17446347)
2007
15
Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. (17129779)
2006
16
Hereditary folate malabsorption: family report and review of the literature. (11807405)
2002
17
Hereditary Folate Malabsorption (20301716)
1993

Variations for Hereditary Folate Malabsorption

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hereditary Folate Malabsorption:

65
id Symbol AA change Variation ID SNP ID
1SLC46A1p.Arg113SerVAR_032825rs80338770
2SLC46A1p.Gly147ArgVAR_032826rs80338771
3SLC46A1p.Ser318ArgVAR_032827rs80338772
4SLC46A1p.Arg376TrpVAR_032828rs80338773
5SLC46A1p.Pro425ArgVAR_032829rs80338774
6SLC46A1p.Arg113CysVAR_058210rs80338770
7SLC46A1p.Asp156TyrVAR_067960rs281875210
8SLC46A1p.Ala335AspVAR_067961rs281875208
9SLC46A1p.Gly338ArgVAR_067962rs281875209
10SLC46A1p.Arg376GlnVAR_067963rs281875211

Clinvar genetic disease variations for Hereditary Folate Malabsorption:

1 (show all 17)
id Gene Name Type Significance SNP ID Assembly Location
1NM_080669.5(SLC46A1): c.1274C> G (p.Pro425Arg)single nucleotide variantPathogenicrs80338774GRCh37Chr 17, 26727674: 26727674
2SLC46A1NM_080669.5(SLC46A1): c.197_198delGCinsAA (p.Cys66Ter)indelPathogenicrs154623632GRCh37Chr 17, 26732935: 26732936
3SLC46A1NM_080669.5(SLC46A1): c.439G> C (p.Gly147Arg)single nucleotide variantPathogenicrs80338771GRCh37Chr 17, 26732276: 26732276
4SLC46A1SLC46A1, 1-BP INS, 17CinsertionPathogenic
5SLC46A1NM_080669.5(SLC46A1): c.1004C> A (p.Ala335Asp)single nucleotide variantPathogenicrs281875208GRCh37Chr 17, 26731711: 26731711
6SLC46A1NM_080669.5(SLC46A1): c.204_205delCC (p.Asn68Lysfs)deletionPathogenicrs397515391GRCh37Chr 17, 26732928: 26732929
7SLC46A1NM_080669.5(SLC46A1): c.1012G> C (p.Gly338Arg)single nucleotide variantPathogenicrs281875209GRCh37Chr 17, 26731703: 26731703
8SLC46A1NM_080669.5(SLC46A1): c.1127G> A (p.Arg376Gln)single nucleotide variantPathogenicrs281875211GRCh37Chr 17, 26729294: 26729294
9SLC46A1NM_080669.5(SLC46A1): c.194dupG (p.Cys66Leufs)duplicationPathogenicrs397515573GRCh37Chr 17, 26732939: 26732939
10SLC46A1NM_080669.5(SLC46A1): c.23dupC (p.Glu9Glyfs)duplicationPathogenicrs397515574GRCh37Chr 17, 26733109: 26733110
11SLC46A1NM_080669.5(SLC46A1): c.466G> T (p.Asp156Tyr)single nucleotide variantPathogenicrs281875210GRCh37Chr 17, 26732249: 26732249
12SLC46A1NM_080669.5(SLC46A1): c.1082-1G> Asingle nucleotide variantPathogenicrs80338775GRCh37Chr 17, 26729340: 26729340
13SLC46A1NM_080669.5(SLC46A1): c.194delG (p.Gly65Alafs)deletionPathogenicrs80338769GRCh37Chr 17, 26732939: 26732939
14SLC46A1NM_080669.5(SLC46A1): c.337C> A (p.Arg113Ser)single nucleotide variantPathogenicrs80338770GRCh37Chr 17, 26732378: 26732378
15SLC46A1NM_080669.5(SLC46A1): c.954C> G (p.Ser318Arg)single nucleotide variantPathogenicrs80338772GRCh37Chr 17, 26731761: 26731761
16SLC46A1NM_080669.5(SLC46A1): c.1126C> T (p.Arg376Trp)single nucleotide variantPathogenicrs80338773GRCh37Chr 17, 26729295: 26729295
17SLC46A1NM_080669.5(SLC46A1): c.337C> T (p.Arg113Cys)single nucleotide variantPathogenicrs80338770GRCh37Chr 17, 26732378: 26732378

Expression for genes affiliated with Hereditary Folate Malabsorption

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Folate Malabsorption

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Pathways for genes affiliated with Hereditary Folate Malabsorption

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Compounds for genes affiliated with Hereditary Folate Malabsorption

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GO Terms for genes affiliated with Hereditary Folate Malabsorption

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17Gene Ontology
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Biological processes related to Hereditary Folate Malabsorption according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane transportGO:0550859.1SLC46A1, SLC37A1

Products for genes affiliated with Hereditary Folate Malabsorption

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Folate Malabsorption

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet