MCID: FLT009
MIFTS: 31

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 50 46 12 66
Hereditary Folate Malabsorption 22 46 23 24 52 68
Congenital Folate Malabsorption 22 46 23 24 52
 
Congenital Defect of Folate Absorption 46 24 25
Folic Acid Transport Defect 46 24
Hfm 68

Characteristics:

Orphanet epidemiological data:

52
hereditary folate malabsorption:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
folate malabsorption, hereditary:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 229050
Orphanet52 ORPHA90045
ICD10 via Orphanet29 D52.8
MedGen35 C0342705

Summaries for Folate Malabsorption, Hereditary

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UniProtKB/Swiss-Prot:68 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 glossitis, pallor and megaloblastic anemia. An important gene associated with Folate Malabsorption, Hereditary is SLC46A1 (Solute Carrier Family 46 Member 1). Affiliated tissues include skeletal muscle, bone and bone marrow.

Genetics Home Reference:24 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:50 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
3pancytopenia9.9
4cerebritis9.9
5cerebral folate deficiency9.9
6neurofibromatosis, type 19.5PRMT1, SLC46A1

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:

229050

Clinical features from OMIM:

229050

Symptoms:

 52 (show all 25)
  • recurrent urinary tract infections
  • glossitis
  • behavioral abnormality
  • pallor
  • seizures
  • global developmental delay
  • hyperreflexia
  • failure to thrive
  • thrombocytopenia
  • pancytopenia
  • eosinophilia
  • megaloblastic anemia
  • diarrhea
  • nausea and vomiting
  • gastroesophageal reflux
  • anorexia
  • recurrent respiratory infections
  • cerebral calcification
  • abnormality of the immune system
  • immunodeficiency
  • skeletal muscle atrophy
  • hypogammaglobulinemia
  • peripheral neuropathy
  • abnormality of movement
  • cheilitis

HPO human phenotypes related to Folate Malabsorption, Hereditary:

(show all 40)
id Description Frequency HPO Source Accession
1 glossitis hallmark (90%) HP:0000206
2 pallor hallmark (90%) HP:0000980
3 megaloblastic anemia hallmark (90%) HP:0001889
4 nausea and vomiting hallmark (90%) HP:0002017
5 malabsorption hallmark (90%) HP:0002024
6 anorexia hallmark (90%) HP:0002039
7 decreased antibody level in blood hallmark (90%) HP:0004313
8 cognitive impairment hallmark (90%) HP:0100543
9 cheilitis hallmark (90%) HP:0100825
10 behavioral abnormality typical (50%) HP:0000708
11 seizures typical (50%) HP:0001250
12 peripheral neuropathy typical (50%) HP:0009830
13 recurrent urinary tract infections occasional (7.5%) HP:0000010
14 hyperreflexia occasional (7.5%) HP:0001347
15 thrombocytopenia occasional (7.5%) HP:0001873
16 abnormality of eosinophils occasional (7.5%) HP:0001879
17 recurrent respiratory infections occasional (7.5%) HP:0002205
18 cerebral calcification occasional (7.5%) HP:0002514
19 skeletal muscle atrophy occasional (7.5%) HP:0003202
20 bone marrow hypocellularity occasional (7.5%) HP:0005528
21 oral ulcer HP:0000155
22 irritability HP:0000737
23 intellectual disability HP:0001249
24 seizures HP:0001250
25 ataxia HP:0001251
26 muscular hypotonia HP:0001252
27 global developmental delay HP:0001263
28 failure to thrive HP:0001508
29 thrombocytopenia HP:0001873
30 neutropenia HP:0001875
31 leukopenia HP:0001882
32 diarrhea HP:0002014
33 malabsorption HP:0002024
34 basal ganglia calcification HP:0002135
35 athetosis HP:0002305
36 recurrent infections HP:0002719
37 folate-responsive megaloblastic anemia HP:0004851
38 feeding difficulties in infancy HP:0008872
39 peripheral neuropathy HP:0009830
40 dyskinesia 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 Absorption25
2 Hereditary Folate Malabsorption23 SLC46A1

Anatomical Context for Folate Malabsorption, Hereditary

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MalaCards organs/tissues related to Folate Malabsorption, Hereditary:

34
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:

68
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
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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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet