HFM
MCID: FLT009
MIFTS: 28

Folate Malabsorption, Hereditary (HFM) malady

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

Aliases & Classifications for Folate Malabsorption, Hereditary

Aliases & Descriptions for Folate Malabsorption, Hereditary:

Name: Folate Malabsorption, Hereditary 54 50 13 69
Hereditary Folate Malabsorption 23 50 24 25 56 66
Congenital Folate Malabsorption 23 50 24 25 56
Congenital Defect of Folate Absorption 50 25 29
Folic Acid Transport Defect 50 25
Hfm 66

Characteristics:

Orphanet epidemiological data:

56
hereditary folate malabsorption
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
folate malabsorption, hereditary:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 229050
Orphanet 56 ORPHA90045
ICD10 via Orphanet 34 D52.8
MedGen 40 C0342705

Summaries for Folate Malabsorption, Hereditary

UniProtKB/Swiss-Prot : 66 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 seizures, diarrhea and nausea and vomiting. An important gene associated with Folate Malabsorption, Hereditary is SLC46A1 (Solute Carrier Family 46 Member 1). Affiliated tissues include brain and skeletal muscle.

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

Wikipedia : 71 Hereditary folate malabsorption (HFM - OMIM #229050) is a rare autosomal recessive disorder caused by... more...

GeneReviews: NBK1673

Related Diseases for Folate Malabsorption, Hereditary

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

id Related Disease Score Top Affiliating Genes
1 hemifacial microsomia 11.7
2 lateral facial dysplasia 11.0
3 craniofacial microsomia 10.8
4 cerebral folate deficiency 9.8
5 pancytopenia 9.8
6 cerebritis 9.8

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



Diseases related to Folate Malabsorption, Hereditary

Symptoms & Phenotypes for Folate Malabsorption, Hereditary

Symptoms by clinical synopsis from OMIM:

229050

Clinical features from OMIM:

229050

Human phenotypes related to Folate Malabsorption, Hereditary:

56 32 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 diarrhea 56 32 Very frequent (99-80%) HP:0002014
3 nausea and vomiting 56 32 Very frequent (99-80%) HP:0002017
4 hyperreflexia 56 32 Occasional (29-5%) HP:0001347
5 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
6 cerebral calcification 56 32 Occasional (29-5%) HP:0002514
7 behavioral abnormality 56 32 Frequent (79-30%) HP:0000708
8 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
9 recurrent respiratory infections 56 32 Occasional (29-5%) HP:0002205
10 gastroesophageal reflux 56 32 Frequent (79-30%) HP:0002020
11 immunodeficiency 56 32 Occasional (29-5%) HP:0002721
12 abnormality of movement 56 32 Very frequent (99-80%) HP:0100022
13 skeletal muscle atrophy 56 32 Occasional (29-5%) HP:0003202
14 pancytopenia 56 32 Occasional (29-5%) HP:0001876
15 pallor 56 32 Very frequent (99-80%) HP:0000980
16 peripheral neuropathy 56 32 Frequent (79-30%) HP:0009830
17 thrombocytopenia 56 32 Occasional (29-5%) HP:0001873
18 decreased antibody level in blood 56 32 Very frequent (99-80%) HP:0004313
19 anorexia 56 32 Very frequent (99-80%) HP:0002039
20 cheilitis 56 32 Very frequent (99-80%) HP:0100825
21 recurrent urinary tract infections 56 32 Occasional (29-5%) HP:0000010
22 eosinophilia 56 32 Occasional (29-5%) HP:0001880
23 glossitis 56 32 Very frequent (99-80%) HP:0000206
24 megaloblastic anemia 56 32 Very frequent (99-80%) HP:0001889
25 ataxia 32 HP:0001251
26 athetosis 32 HP:0002305
27 intellectual disability 32 HP:0001249
28 muscular hypotonia 32 HP:0001252
29 malabsorption 32 HP:0002024
30 dyskinesia 32 HP:0100660
31 feeding difficulties in infancy 32 HP:0008872
32 irritability 32 HP:0000737
33 abnormality of the immune system 56 Very frequent (99-80%)
34 recurrent infections 32 HP:0002719
35 neutropenia 32 HP:0001875
36 leukopenia 32 HP:0001882
37 oral ulcer 32 HP:0000155
38 basal ganglia calcification 32 HP:0002135
39 folate-responsive megaloblastic anemia 32 HP:0004851

UMLS symptoms related to Folate Malabsorption, Hereditary:


ataxia, athetosis, diarrhea, seizures

Drugs & Therapeutics for Folate Malabsorption, Hereditary

Search Clinical Trials , NIH Clinical Center for Folate Malabsorption, Hereditary

Genetic Tests for Folate Malabsorption, Hereditary

Genetic tests related to Folate Malabsorption, Hereditary:

id Genetic test Affiliating Genes
1 Congenital Defect of Folate Absorption 29
2 Hereditary Folate Malabsorption 24 SLC46A1

Anatomical Context for Folate Malabsorption, Hereditary

MalaCards organs/tissues related to Folate Malabsorption, Hereditary:

39
Brain, Skeletal Muscle

Publications for Folate Malabsorption, Hereditary

Variations for Folate Malabsorption, Hereditary

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

66
id Symbol AA change Variation ID SNP ID
1 SLC46A1 p.Arg113Ser VAR_032825 rs80338770
2 SLC46A1 p.Gly147Arg VAR_032826 rs80338771
3 SLC46A1 p.Ser318Arg VAR_032827 rs80338772
4 SLC46A1 p.Arg376Trp VAR_032828 rs80338773
5 SLC46A1 p.Pro425Arg VAR_032829 rs80338774
6 SLC46A1 p.Arg113Cys VAR_058210 rs80338770
7 SLC46A1 p.Asp156Tyr VAR_067960 rs281875210
8 SLC46A1 p.Ala335Asp VAR_067961 rs281875208
9 SLC46A1 p.Gly338Arg VAR_067962 rs281875209
10 SLC46A1 p.Arg376Gln VAR_067963 rs281875211

ClinVar genetic disease variations for Folate Malabsorption, Hereditary:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC46A1 NM_080669.5(SLC46A1): c.1082-1G> A single nucleotide variant Pathogenic rs80338775 GRCh37 Chromosome 17, 26729340: 26729340
2 SLC46A1 NM_080669.5(SLC46A1): c.194delG (p.Gly65Alafs) deletion Pathogenic rs80338769 GRCh37 Chromosome 17, 26732939: 26732939
3 SLC46A1 NM_080669.5(SLC46A1): c.337C> A (p.Arg113Ser) single nucleotide variant Pathogenic rs80338770 GRCh37 Chromosome 17, 26732378: 26732378
4 SLC46A1 NM_080669.5(SLC46A1): c.954C> G (p.Ser318Arg) single nucleotide variant Pathogenic rs80338772 GRCh37 Chromosome 17, 26731761: 26731761
5 SLC46A1 NM_080669.5(SLC46A1): c.1126C> T (p.Arg376Trp) single nucleotide variant Pathogenic rs80338773 GRCh37 Chromosome 17, 26729295: 26729295
6 SLC46A1 NM_080669.5(SLC46A1): c.337C> T (p.Arg113Cys) single nucleotide variant Pathogenic rs80338770 GRCh37 Chromosome 17, 26732378: 26732378
7 SLC46A1 NM_080669.5(SLC46A1): c.1274C> G (p.Pro425Arg) single nucleotide variant Pathogenic rs80338774 GRCh37 Chromosome 17, 26727674: 26727674
8 SLC46A1 NM_080669.5(SLC46A1): c.197_198delGCinsAA (p.Cys66Ter) indel Pathogenic rs154623632 GRCh37 Chromosome 17, 26732935: 26732936
9 SLC46A1 NM_080669.5(SLC46A1): c.439G> C (p.Gly147Arg) single nucleotide variant Pathogenic rs80338771 GRCh37 Chromosome 17, 26732276: 26732276
10 SLC46A1 SLC46A1, 1-BP INS, 17C insertion Pathogenic
11 SLC46A1 NM_080669.5(SLC46A1): c.1004C> A (p.Ala335Asp) single nucleotide variant Pathogenic rs281875208 GRCh37 Chromosome 17, 26731711: 26731711
12 SLC46A1 NM_080669.5(SLC46A1): c.204_205delCC (p.Asn68Lysfs) deletion Pathogenic rs397515391 GRCh37 Chromosome 17, 26732928: 26732929
13 SLC46A1 NM_080669.5(SLC46A1): c.1012G> C (p.Gly338Arg) single nucleotide variant Pathogenic rs281875209 GRCh37 Chromosome 17, 26731703: 26731703
14 SLC46A1 NM_080669.5(SLC46A1): c.1127G> A (p.Arg376Gln) single nucleotide variant Pathogenic rs281875211 GRCh37 Chromosome 17, 26729294: 26729294
15 SLC46A1 NM_080669.5(SLC46A1): c.194dupG (p.Cys66Leufs) duplication Pathogenic rs397515573 GRCh37 Chromosome 17, 26732939: 26732939
16 SLC46A1 NM_080669.5(SLC46A1): c.23dupC (p.Glu9Glyfs) duplication Pathogenic rs397515574 GRCh37 Chromosome 17, 26733110: 26733110
17 SLC46A1 NM_080669.5(SLC46A1): c.466G> T (p.Asp156Tyr) single nucleotide variant Pathogenic rs281875210 GRCh37 Chromosome 17, 26732249: 26732249

Expression for Folate Malabsorption, Hereditary

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

Pathways for Folate Malabsorption, Hereditary

GO Terms for Folate Malabsorption, Hereditary

Sources for Folate Malabsorption, Hereditary

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70 UMLS via Orphanet
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