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 51 47 12 67
Hereditary Folate Malabsorption 23 47 24 25 53 69
Congenital Folate Malabsorption 23 47 24 25 53
Congenital Defect of Folate Absorption 47 25 26
Folic Acid Transport Defect 47 25
Hfm 69


Orphanet epidemiological data:

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


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


External Ids:

OMIM51 229050
Orphanet53 ORPHA90045
ICD10 via Orphanet30 D52.8
MedGen36 C0342705

Summaries for Folate Malabsorption, Hereditary

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UniProtKB/Swiss-Prot:69 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 lateral facial dysplasia, and has symptoms including glossitis, pallor and megaloblastic anemia. An important gene associated with Folate Malabsorption, Hereditary is SLC46A1 (Solute Carrier Family 46 Member 1). Affiliated tissues include brain, skeletal muscle and bone.

Genetics Home Reference:25 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:51 Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate... (229050) more...

Wikipedia:70 Hereditary folate malabsorption (HFM - OMIM #229050) is a rare autosomal recessive disorder caused by... more...

GeneReviews 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 microsomia11.6
2lateral facial dysplasia11.0
3craniofacial microsomia10.8
6cerebral folate deficiency9.8

Graphical network of diseases related to Folate Malabsorption, Hereditary:

Diseases related to folate malabsorption, hereditary

Symptoms for Folate Malabsorption, Hereditary

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Folate Malabsorption, Hereditary:

 63 53 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glossitis63 53 hallmark (90%) Very frequent (99-80%) HP:0000206
2 pallor63 53 hallmark (90%) Very frequent (99-80%) HP:0000980
3 megaloblastic anemia63 53 hallmark (90%) Very frequent (99-80%) HP:0001889
4 nausea and vomiting63 53 hallmark (90%) Very frequent (99-80%) HP:0002017
5 malabsorption63 hallmark (90%) HP:0002024
6 anorexia63 53 hallmark (90%) Very frequent (99-80%) HP:0002039
7 decreased antibody level in blood63 53 hallmark (90%) Very frequent (99-80%) HP:0004313
8 cognitive impairment63 hallmark (90%) HP:0100543
9 cheilitis63 53 hallmark (90%) Very frequent (99-80%) HP:0100825
10 behavioral abnormality63 53 typical (50%) Frequent (79-30%) HP:0000708
11 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
12 peripheral neuropathy63 53 typical (50%) Frequent (79-30%) HP:0009830
13 recurrent urinary tract infections63 53 occasional (7.5%) Occasional (29-5%) HP:0000010
14 hyperreflexia63 53 occasional (7.5%) Occasional (29-5%) HP:0001347
15 thrombocytopenia63 53 occasional (7.5%) Occasional (29-5%) HP:0001873
16 abnormality of eosinophils63 occasional (7.5%) HP:0001879
17 recurrent respiratory infections63 53 occasional (7.5%) Occasional (29-5%) HP:0002205
18 cerebral calcification63 53 occasional (7.5%) Occasional (29-5%) HP:0002514
19 skeletal muscle atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0003202
20 bone marrow hypocellularity63 occasional (7.5%) HP:0005528
21 oral ulcer63 HP:0000155
22 irritability63 HP:0000737
23 intellectual disability63 HP:0001249
24 ataxia63 HP:0001251
25 muscular hypotonia63 HP:0001252
26 global developmental delay63 53 Very frequent (99-80%) HP:0001263
27 failure to thrive63 53 Very frequent (99-80%) HP:0001508
28 neutropenia63 HP:0001875
29 leukopenia63 HP:0001882
30 diarrhea63 53 Very frequent (99-80%) HP:0002014
31 basal ganglia calcification63 HP:0002135
32 athetosis63 HP:0002305
33 recurrent infections63 HP:0002719
34 folate-responsive megaloblastic anemia63 HP:0004851
35 feeding difficulties in infancy63 HP:0008872
36 dyskinesia63 HP:0100660
37 pancytopenia53 Occasional (29-5%)
38 eosinophilia53 Occasional (29-5%)
39 gastroesophageal reflux53 Frequent (79-30%)
40 abnormality of the immune system53 Very frequent (99-80%)
41 immunodeficiency53 Occasional (29-5%)
42 abnormality of movement53 Very frequent (99-80%)

UMLS symptoms related to Folate Malabsorption, Hereditary:

ataxia, athetosis, diarrhea, seizures

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 Congenital Defect of Folate Absorption26
2 Hereditary Folate Malabsorption24 SLC46A1

Anatomical Context for Folate Malabsorption, Hereditary

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MalaCards organs/tissues related to Folate Malabsorption, Hereditary:

Brain, Skeletal muscle, Bone, Bone marrow

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
1SLC46A1NM_080669.5(SLC46A1): c.1274C> G (p.Pro425Arg)SNVPathogenicrs80338774GRCh37Chr 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)SNVPathogenicrs80338771GRCh37Chr 17, 26732276: 26732276
4SLC46A1SLC46A1, 1-BP INS, 17CinsertionPathogenicChr na, -1: -1
5SLC46A1NM_080669.5(SLC46A1): c.1004C> A (p.Ala335Asp)SNVPathogenicrs281875208GRCh37Chr 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)SNVPathogenicrs281875209GRCh37Chr 17, 26731703: 26731703
8SLC46A1NM_080669.5(SLC46A1): c.1127G> A (p.Arg376Gln)SNVPathogenicrs281875211GRCh37Chr 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)SNVPathogenicrs281875210GRCh37Chr 17, 26732249: 26732249
12SLC46A1NM_080669.5(SLC46A1): c.1082-1G> ASNVPathogenicrs80338775GRCh37Chr 17, 26729340: 26729340
13SLC46A1NM_080669.5(SLC46A1): c.194delG (p.Gly65Alafs)deletionPathogenicrs80338769GRCh37Chr 17, 26732939: 26732939
14SLC46A1NM_080669.5(SLC46A1): c.337C> A (p.Arg113Ser)SNVPathogenicrs80338770GRCh37Chr 17, 26732378: 26732378
15SLC46A1NM_080669.5(SLC46A1): c.954C> G (p.Ser318Arg)SNVPathogenicrs80338772GRCh37Chr 17, 26731761: 26731761
16SLC46A1NM_080669.5(SLC46A1): c.1126C> T (p.Arg376Trp)SNVPathogenicrs80338773GRCh37Chr 17, 26729295: 26729295
17SLC46A1NM_080669.5(SLC46A1): c.337C> T (p.Arg113Cys)SNVPathogenicrs80338770GRCh37Chr 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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30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet