Folate Malabsorption, Hereditary malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Folate Malabsorption, Hereditary

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Aliases & Descriptions for Folate Malabsorption, Hereditary:

Name: Folate Malabsorption, Hereditary 49 11 45 65
Hereditary Folate Malabsorption 21 45 22 23 51 67
Congenital Folate Malabsorption 21 45 22 23 51
Congenital Defect of Folate Absorption 45 23 24
Folic Acid Transport Defect 45 23
Hfm 67


Orphanet epidemiological data:

hereditary folate malabsorption:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


folate malabsorption, hereditary:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


External Ids:

OMIM49 229050
Orphanet51 90045
ICD10 via Orphanet28 D52.8
MedGen34 C0342705

Summaries for Folate Malabsorption, Hereditary

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UniProtKB/Swiss-Prot:67 Hereditary folate malabsorption: Rare autosomal recessive disorder characterized by impaired intestinal folate absorption with folate deficiency resulting in anemia, hypoimmunoglobulinemia with recurrent infections, and recurrent or chronic diarrhea. In many patients, neurological abnormalities such as seizures or mental retardation become apparent during early childhood, attributed to impaired transport of folates into the central nervous system. When diagnosed early, the disorder can be treated by administration of folate. If untreated, it can be fatal and, if treatment is delayed, the neurological defects can become permanent.

MalaCards based summary: Folate Malabsorption, Hereditary, also known as hereditary folate malabsorption, is related to hemifacial microsomia and craniofacial microsomia, and has symptoms including cheilitis, cognitive impairment and decreased antibody level in blood. An important gene associated with Folate Malabsorption, Hereditary is SLC46A1 (Solute Carrier Family 46 Member 1). Affiliated tissues include bone, bone marrow and skeletal muscle.

Genetics Home Reference:23 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.

OMIM:49 Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate... (229050) more...

GeneReviews summary for NBK1673

Related Diseases for Folate Malabsorption, Hereditary

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Diseases related to Folate Malabsorption, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hemifacial microsomia11.2
2craniofacial microsomia11.0

Symptoms for Folate Malabsorption, Hereditary

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



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

HPO human phenotypes related to Folate Malabsorption, Hereditary:

(show all 40)
id Description Frequency HPO Source Accession
1 cheilitis hallmark (90%) HP:0100825
2 cognitive impairment hallmark (90%) HP:0100543
3 decreased antibody level in blood hallmark (90%) HP:0004313
4 anorexia hallmark (90%) HP:0002039
5 malabsorption hallmark (90%) HP:0002024
6 nausea and vomiting hallmark (90%) HP:0002017
7 megaloblastic anemia hallmark (90%) HP:0001889
8 pallor hallmark (90%) HP:0000980
9 glossitis hallmark (90%) HP:0000206
10 peripheral neuropathy typical (50%) HP:0009830
11 seizures typical (50%) HP:0001250
12 behavioral abnormality typical (50%) HP:0000708
13 bone marrow hypocellularity occasional (7.5%) HP:0005528
14 skeletal muscle atrophy occasional (7.5%) HP:0003202
15 cerebral calcification occasional (7.5%) HP:0002514
16 recurrent respiratory infections occasional (7.5%) HP:0002205
17 abnormality of eosinophils occasional (7.5%) HP:0001879
18 thrombocytopenia occasional (7.5%) HP:0001873
19 hyperreflexia occasional (7.5%) HP:0001347
20 recurrent urinary tract infections occasional (7.5%) HP:0000010
21 dyskinesia HP:0100660
22 peripheral neuropathy HP:0009830
23 feeding difficulties in infancy HP:0008872
24 folate-responsive megaloblastic anemia HP:0004851
25 recurrent infections HP:0002719
26 athetosis HP:0002305
27 basal ganglia calcification HP:0002135
28 malabsorption HP:0002024
29 diarrhea HP:0002014
30 leukopenia HP:0001882
31 neutropenia HP:0001875
32 thrombocytopenia HP:0001873
33 failure to thrive HP:0001508
34 global developmental delay HP:0001263
35 muscular hypotonia HP:0001252
36 ataxia HP:0001251
37 seizures HP:0001250
38 intellectual disability HP:0001249
39 irritability HP:0000737
40 oral ulcer HP:0000155

UMLS symptoms related to Folate Malabsorption, Hereditary:

seizures, diarrhea, athetosis, ataxia

Drugs & Therapeutics for Folate Malabsorption, Hereditary

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Folate Malabsorption, Hereditary

Genetic Tests for Folate Malabsorption, Hereditary

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Genetic tests related to Folate Malabsorption, Hereditary:

id Genetic test Affiliating Genes
1 Hereditary Folate Malabsorption22 SLC46A1

Anatomical Context for Folate Malabsorption, Hereditary

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MalaCards organs/tissues related to Folate Malabsorption, Hereditary:

Bone, Bone marrow, Skeletal muscle, B cells, Liver, Endothelial

Animal Models for Folate Malabsorption, Hereditary or affiliated genes

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Publications for Folate Malabsorption, Hereditary

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Variations for Folate Malabsorption, Hereditary

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UniProtKB/Swiss-Prot genetic disease variations for Folate Malabsorption, Hereditary:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Folate Malabsorption, Hereditary:

5 (show all 17)
id Gene Variation 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, 26733110: 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 Folate Malabsorption, Hereditary

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

Pathways for genes affiliated with Folate Malabsorption, Hereditary

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GO Terms for genes affiliated with Folate Malabsorption, Hereditary

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Sources for Folate Malabsorption, Hereditary

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet