MCID: HRD028
MIFTS: 42

Hereditary Folate Malabsorption malady

Gastrointestinal diseases, Metabolic diseases, Blood diseases, Endocrine diseases categories

Summaries for Hereditary Folate Malabsorption

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21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 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, also known as congenital folate malabsorption, is related to thyroid hormone plasma membrane transport defect and patent foramen ovale, 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:46 229050

GeneReviews summary for folate-mal

Aliases & Classifications for Hereditary Folate Malabsorption

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19GeneReviews, 20GeneTests, 21Genetics Home Reference, 48Orphanet, 60UMLS, 46OMIM, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
hereditary folate malabsorption:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hereditary folate malabsorption 19 20 21 48
congenital folate malabsorption 19 21 48
congenital defect of folate absorption 21 60
thyroid hormone plasma membrane transport defect 60
folate malabsorption, hereditary 46
folic acid transport defect 21


External Ids:

OMIM46 229050
ICD10 via Orphanet26 D52.8

Related Diseases for Hereditary Folate Malabsorption

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17GeneCards, 18GeneDecks
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Diseases related to Hereditary Folate Malabsorption via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1thyroid hormone plasma membrane transport defect10.6
2patent foramen ovale10.4
3glanzmann's thrombasthenia10.4
4takayasu's arteritis10.4
5atrioventricular septal defect10.4
6congenital diaphragmatic hernia10.4
7atrial heart septal defect10.4
8congenital heart defect10.4
9urea cycle disorder10.4
10zap70-related severe combined immunodeficiency10.4
11acro-pectoro-renal field defect10.4
12ankle defects short stature10.4
13axial mesodermal dysplasia spectrum10.4
14branchial arch defects10.4
15cardioskeletal syndrome kuwaiti type10.4
16sacral defect with anterior meningocele10.4
17caudal regression syndrome10.4
18chylomicron retention disease10.4
19x-linked creatine deficiency10.4
20cystinosis, ocular nonnephropathic10.4
21hmg coa lyase deficiency10.4
22imerslund-grasbeck syndrome10.4
23defective apolipoprotein b-10010.4
24diaphragmatic hernia upper limb defects10.4
25peroxisome disorders10.4
26heart defect, tongue hamartoma and polysyndactyly10.4
27hermansky pudlak syndrome 210.4
28heterotaxy10.4
29red cell phospholipid defect with hemolysis10.4
30hyperthermia induced defects10.4
31lateral body wall defect10.4
32laterality defects dominant10.4
33limb reduction defect10.4
34overgrowth radial ray defect arthrogryposis10.4
35paraomphalocele10.4
36reductional transverse limb defects10.4
37renal agenesis meningomyelocele mullerian defect10.4
38trigonomacrocephaly tibial defect polydactyly10.4
39thyroid hormonogenesis defect i10.4
40combined oxidative phosphorylation deficiency 210.4
41combined oxidative phosphorylation deficiency 510.4
42combined oxidative phosphorylation deficiency 410.4
43combined oxidative phosphorylation deficiency 710.4
44combined oxidative phosphorylation deficiency 810.4
45combined oxidative phosphorylation deficiency 1010.4
46abdominal wall defect10.4
47critical congenital heart disease10.4
48heart block, progressive, type ia10.4
49combined oxidative phosphorylation deficiency 910.4
50congenital disorder of glycosylation, type iik10.4

Graphical network of the top 20 diseases related to Hereditary Folate Malabsorption:



Diseases related to hereditary folate malabsorption

Clinical Features for Hereditary Folate Malabsorption

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46OMIM, 48Orphanet
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Clinical features from OMIM:

229050

Clinical synopsis from OMIM:

229050

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests
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Genetic tests related to Hereditary Folate Malabsorption:

id Genetic test Affiliating Genes
1 Hereditary Folate Malabsorption20 SLC46A1

Anatomical Context for Hereditary Folate Malabsorption

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32MalaCards
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MalaCards organs/tissues related to Hereditary Folate Malabsorption:

32
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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50PubMed
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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

Genetic Variations for Hereditary Folate Malabsorption

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Folate Malabsorption:

62
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

Expression for genes affiliated with Hereditary Folate Malabsorption

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1BioGPS, 15Gene 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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16Gene Ontology
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Biological processes related to Hereditary Folate Malabsorption according to GeneCards/GeneDecks:

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

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet