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

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Aliases & Descriptions for Folate Malabsorption, Hereditary:

Name: Folate Malabsorption, Hereditary 52 48 12 68
Hereditary Folate Malabsorption 23 48 24 25 54 70
Congenital Folate Malabsorption 23 48 24 25 54
 
Congenital Defect of Folate Absorption 48 25 27
Folic Acid Transport Defect 48 25
Hfm 70

Characteristics:

Orphanet epidemiological data:

54
hereditary folate malabsorption:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
folate malabsorption, hereditary:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 229050
Orphanet54 ORPHA90045
ICD10 via Orphanet31 D52.8
MedGen37 C0342705

Summaries for Folate Malabsorption, Hereditary

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UniProtKB/Swiss-Prot:70 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 ataxia, ataxia and athetosis. 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:52 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 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 microsomia11.7
2lateral facial dysplasia11.0
3craniofacial microsomia10.8
4pancytopenia9.8
5cerebritis9.8
6cerebral folate deficiency9.8

Graphical network of diseases related to Folate Malabsorption, Hereditary:



Diseases related to folate malabsorption, hereditary

Symptoms & Phenotypes for Folate Malabsorption, Hereditary

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Symptoms by clinical synopsis from OMIM:

229050

Clinical features from OMIM:

229050

Human phenotypes related to Folate Malabsorption, Hereditary:

 54 64 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent urinary tract infections64 54 Occasional (29-5%) HP:0000010
2 glossitis64 54 Very frequent (99-80%) HP:0000206
3 behavioral abnormality64 54 Frequent (79-30%) HP:0000708
4 pallor64 54 Very frequent (99-80%) HP:0000980
5 seizures64 54 Frequent (79-30%) HP:0001250
6 global developmental delay64 54 Very frequent (99-80%) HP:0001263
7 hyperreflexia64 54 Occasional (29-5%) HP:0001347
8 failure to thrive64 54 Very frequent (99-80%) HP:0001508
9 thrombocytopenia64 54 Occasional (29-5%) HP:0001873
10 pancytopenia64 54 Occasional (29-5%) HP:0001876
11 eosinophilia64 54 Occasional (29-5%) HP:0001880
12 megaloblastic anemia64 54 Very frequent (99-80%) HP:0001889
13 diarrhea64 54 Very frequent (99-80%) HP:0002014
14 nausea and vomiting64 54 Very frequent (99-80%) HP:0002017
15 gastroesophageal reflux64 54 Frequent (79-30%) HP:0002020
16 anorexia64 54 Very frequent (99-80%) HP:0002039
17 recurrent respiratory infections64 54 Occasional (29-5%) HP:0002205
18 cerebral calcification64 54 Occasional (29-5%) HP:0002514
19 abnormality of the immune system54 Very frequent (99-80%)
20 immunodeficiency64 54 Occasional (29-5%) HP:0002721
21 skeletal muscle atrophy64 54 Occasional (29-5%) HP:0003202
22 decreased antibody level in blood64 54 Very frequent (99-80%) HP:0004313
23 peripheral neuropathy64 54 Frequent (79-30%) HP:0009830
24 abnormality of movement64 54 Very frequent (99-80%) HP:0100022
25 cheilitis64 54 Very frequent (99-80%) HP:0100825
26 oral ulcer64 HP:0000155
27 irritability64 HP:0000737
28 intellectual disability64 HP:0001249
29 ataxia64 HP:0001251
30 muscular hypotonia64 HP:0001252
31 neutropenia64 HP:0001875
32 leukopenia64 HP:0001882
33 malabsorption64 HP:0002024
34 basal ganglia calcification64 HP:0002135
35 athetosis64 HP:0002305
36 recurrent infections64 HP:0002719
37 folate-responsive megaloblastic anemia64 HP:0004851
38 feeding difficulties in infancy64 HP:0008872
39 dyskinesia64 HP:0100660

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 Absorption27
2 Hereditary Folate Malabsorption24 SLC46A1

Anatomical Context for Folate Malabsorption, Hereditary

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MalaCards organs/tissues related to Folate Malabsorption, Hereditary:

36
Brain, Skeletal muscle

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:

70
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

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, 17CinsertionPathogenic
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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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet