MCID: HRD028
MIFTS: 32

Hereditary Folate Malabsorption malady

Gastrointestinal, Metabolic, Blood, Endocrine categories

Summaries for Hereditary Folate Malabsorption

Sources:
21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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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 autosomal recessive inheritance, nausea/vomiting/regurgitation/merycism/hyperemesis and motor deficit/trouble. An important gene associated with Hereditary Folate Malabsorption is SLC46A1 (solute carrier family 46 (folate transporter), member 1). Affiliated tissues include thyroid and b cells.

Description from OMIM:47 229050

GeneReviews summary for folate-mal

Aliases & Classifications for Hereditary Folate Malabsorption

Sources:
19GeneReviews, 20GeneTests, 21Genetics Home Reference, 49Orphanet, 61UMLS, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Gastrointestinal, Metabolic, Blood, Endocrine


Characteristics (Orphanet epidemiological data):

49
hereditary folate malabsorption:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hereditary folate malabsorption 19 20 21 49
congenital folate malabsorption 19 21 49
congenital defect of folate absorption 21 61
thyroid hormone plasma membrane transport defect 61
folate malabsorption, hereditary 47
folic acid transport defect 21


External Ids:

OMIM47 229050
ICD10 via Orphanet26 D52.8

Related Diseases for Hereditary Folate Malabsorption

Sources:
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 58)
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
8urea cycle disorder10.4
9zap70-related severe combined immunodeficiency10.4
10acro-pectoro-renal field defect10.4
11ankle defects short stature10.4
12axial mesodermal dysplasia spectrum10.4
13branchial arch defects10.4
14cardioskeletal syndrome kuwaiti type10.4
15sacral defect with anterior meningocele10.4
16caudal regression syndrome10.4
17chylomicron retention disease10.4
18x-linked creatine deficiency10.4
19cystinosis, ocular nonnephropathic10.4
20hmg coa lyase deficiency10.4
21imerslund-grasbeck syndrome10.4
22defective apolipoprotein b-10010.4
23diaphragmatic hernia upper limb defects10.4
24peroxisome disorders10.4
25heart defect, tongue hamartoma and polysyndactyly10.4
26hermansky pudlak syndrome 210.4
27heterotaxy10.4
28red cell phospholipid defect with hemolysis10.4
29hyperthermia induced defects10.4
30lateral body wall defect10.4
31laterality defects dominant10.4
32limb reduction defect10.4
33overgrowth radial ray defect arthrogryposis10.4
34paraomphalocele10.4
35reductional transverse limb defects10.4
36renal agenesis meningomyelocele mullerian defect10.4
37trigonomacrocephaly tibial defect polydactyly10.4
38thyroid hormonogenesis defect i10.4
39combined oxidative phosphorylation deficiency 210.4
40combined oxidative phosphorylation deficiency 510.4
41combined oxidative phosphorylation deficiency 410.4
42combined oxidative phosphorylation deficiency 710.4
43combined oxidative phosphorylation deficiency 810.4
44combined oxidative phosphorylation deficiency 1010.4
45abdominal wall defect10.4
46critical congenital heart disease10.4
47heart block, progressive, type ia10.4
48combined oxidative phosphorylation deficiency 910.4
49congenital heart defects, nonsyndromic, 210.4
50robinow syndrome, autosomal recessive10.4

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



Diseases related to hereditary folate malabsorption

Clinical Features for Hereditary Folate Malabsorption

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

229050

Clinical synopsis from OMIM:

229050

Symptoms:

49 (show all 27)
  • autosomal recessive inheritance
  • 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
  • movement disorder
  • peripheral neuropathy
  • oral mucosa disease/cheilitis
  • 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

Drugs & Therapeutics for Hereditary Folate Malabsorption

Sources:
5CenterWatch, 42NIH 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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Hereditary Folate Malabsorption:

33
Thyroid, B cells

Animal Models for Hereditary Folate Malabsorption or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hereditary Folate Malabsorption

Sources:
51PubMed
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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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Folate Malabsorption:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Folate Malabsorption

Search GEO for disease gene expression data for Hereditary Folate Malabsorption.

Pathways for genes affiliated with Hereditary Folate Malabsorption

Compounds for genes affiliated with Hereditary Folate Malabsorption

GO Terms for genes affiliated with Hereditary Folate Malabsorption

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Folate Malabsorption

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet