MCID: FLT009
MIFTS: 35

Folate Malabsorption, Hereditary

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

Aliases & Classifications for Folate Malabsorption, Hereditary

MalaCards integrated aliases for Folate Malabsorption, Hereditary:

Name: Folate Malabsorption, Hereditary 57 53 13 40 73
Hereditary Folate Malabsorption 24 53 25 59 75 37
Congenital Defect of Folate Absorption 53 25 29 6
Congenital Folate Malabsorption 24 53 25 59
Folic Acid Transport Defect 53 25
Hfm 75

Characteristics:

Orphanet epidemiological data:

59
hereditary folate malabsorption
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae


HPO:

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


Classifications:



Summaries for Folate Malabsorption, Hereditary

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 90045Disease definitionHereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.EpidemiologyThe prevalence is unknown. Approximately 30 cases have been reported to date.Clinical descriptionDisease onset usually occurs a few months after birth. Manifestations include failure to thrive, diarrhea and/or mouth ulcers, various neurological manifestations (motor impairment, seizures, developmental delay, cognitive and behavioral disorders), megaloblastic anemia and hypoimmunoglobulinemia. Megaloblastic anemia is the primary manifestation of HFM and can be very severe if untreated. Hypoimmunoglobulinemia results in unusual infections with Pneumocystis jiroveccii, C. difficile and cytomegalovirus (CMV) which can be recurrent and life-threatening in undiagnosed infants. Neurological manifestations may be the presenting symptoms in some but are absent in others. Seizures, if present, begin in infancy or later in childhood. Intracranial calcifications have been observed in some.EtiologyHFM is caused by mutations in the SLC46A1 gene found on chromosome 17q11.2 which encodes the proton-coupled folate transporter (PCFT). PCFT is essential for intestinal folate absorption and transport of folates across the blood-cerebrospinal fluid (CSF) barrier. A defect in this protein leads to a systemic folate and CNS folate deficiency. Infants cannot absorb adequate folate from breast milk/formula and become deficient once their stores accumulated during gestation are exhausted.Diagnostic methodsDiagnosis is based on clinical and laboratory findings. It is confirmed by findings of an impaired absorption of an oral folate load (even after correction of serum folate concentration) and a low CSF folate concentration (0-1.5nM). Bone marrow biopsy confirms the presence of megaloblastic anemia. Sequence analysis of the SLC46A1 coding region can identify any mutations present in the gene, also confirming diagnosis of HFM.Differential diagnosisThe immunodeficiency seen in HFM may resemble severe combined immune deficiency (SCID; see this term). Other differential diagnoses include methionine synthase deficiency with megaloblastic anemia and developmental delay, formiminoglutamic aciduria, tyrosinemia type 1, methylenetetrahydrofolate reductase deficiency and erythroleukemia (see these terms).Antenatal diagnosisAntenatal diagnosis is possible via prenatal testing. Screening of newborns with a family history of HFM allows for early diagnosis and treatment with folate immediately after birth, before symptoms occur.Genetic counselingHFM is inherited autosomal recessively. Genetic counseling is possible.Management and treatmentHigh dose oral or parenteral 5-formyltetrahydrofolate (5-formylTHF) and oral L-5-methyltetrahydrofolate (L-5-methylTHF) are the two types of reduced folates used to treat HFM. Dosage is monitored and adjusted (individualized for each patient) so that the CSF folate levels remain within the normal range (around 100nM in infants-2 year olds). Folic acid should not be used as it binds to folate receptors and blocks folate transport. If anemia is severe, a transfusion may be necessary. Early treatment with reduced folates before the appearance of symptoms can prevent the metabolic consequences of HFM. Patients should have regular blood tests to monitor complete blood count, serum and CSF folate and homocysteine concentrations and serum immunoglobulin concentrations.PrognosisWith proper treatment the prognosis is good and reversal of most of the systemic consequences of the disease is usually achieved. Only when untreated is the prognosis poor.Visit the Orphanet disease page for more resources.

MalaCards based summary : Folate Malabsorption, Hereditary, also known as hereditary folate malabsorption, is related to hemifacial microsomia and epilepsy occipital calcifications, and has symptoms including ataxia, athetosis and diarrhea. An important gene associated with Folate Malabsorption, Hereditary is SLC46A1 (Solute Carrier Family 46 Member 1), and among its related pathways/superpathways are Vitamin digestion and absorption and Mineral absorption. Affiliated tissues include testes, bone marrow and brain, and related phenotypes are recurrent urinary tract infections and glossitis

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 : 57 Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system (summary by Qiu et al., 2006). (229050)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 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:

# Related Disease Score Top Affiliating Genes
1 hemifacial microsomia 11.7
2 epilepsy occipital calcifications 11.1
3 craniofacial microsomia 10.9
4 combined immunodeficiency, x-linked 9.9
5 pancytopenia 9.9
6 cerebritis 9.9
7 cerebral folate deficiency 9.9

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 via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
athetosis
hypotonia
head lag
more
Neurologic Behavioral Psychiatric Manifestations:
irritability

Hematology:
thrombocytopenia
neutropenia
leukopenia
megaloblastic anemia, folate-responsive

Abdomen Gastrointestinal:
diarrhea
poor feeding
folate malabsorption

Laboratory Abnormalities:
decreased serum folate
decreased csf folate
low plasma methionine
increased urinary formiminoglutamic acid (figlu)

Growth Other:
failure to thrive

Neurologic Peripheral Nervous System:
peripheral neuropathy

Immunology:
recurrent infections
increased susceptibility to pneumocystis and cytomegalovirus infections
hypoimmunoglobulinemia

Head And Neck Mouth:
oral ulcers


Clinical features from OMIM:

229050

Human phenotypes related to Folate Malabsorption, Hereditary:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent urinary tract infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0000010
2 glossitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000206
3 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
4 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
5 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
8 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
9 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
10 pancytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001876
11 eosinophilia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001880
12 megaloblastic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001889
13 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
14 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
15 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
16 anorexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002039
17 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
18 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
19 immunodeficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002721
20 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
21 decreased antibody level in blood 59 32 hallmark (90%) Very frequent (99-80%) HP:0004313
22 peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0009830
23 cheilitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100825
24 abnormality of the immune system 59 Very frequent (99-80%)
25 abnormality of movement 59 Very frequent (99-80%)
26 oral ulcer 32 HP:0000155
27 irritability 32 HP:0000737
28 intellectual disability 32 HP:0001249
29 ataxia 32 HP:0001251
30 muscular hypotonia 32 HP:0001252
31 generalized hypotonia 32 HP:0001290
32 neutropenia 32 HP:0001875
33 leukopenia 32 HP:0001882
34 malabsorption 32 HP:0002024
35 basal ganglia calcification 32 HP:0002135
36 athetosis 32 HP:0002305
37 recurrent infections 32 HP:0002719
38 folate-responsive megaloblastic anemia 32 HP:0004851
39 feeding difficulties in infancy 32 HP:0008872
40 dyskinesia 32 HP:0100660

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:

# Genetic test Affiliating Genes
1 Congenital Defect of Folate Absorption 29 SLC46A1

Anatomical Context for Folate Malabsorption, Hereditary

MalaCards organs/tissues related to Folate Malabsorption, Hereditary:

41
Testes, Bone Marrow, Brain, Bone, Skeletal Muscle

Publications for Folate Malabsorption, Hereditary

Articles related to Folate Malabsorption, Hereditary:

(show all 22)
# Title Authors Year
1
The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption. ( 27664775 )
2016
2
Hereditary folate malabsorption with extensive intracranial calcification. ( 25638192 )
2015
3
Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption. ( 25504888 )
2015
4
Impact of folate therapy on combined immunodeficiency secondary to hereditary folate malabsorption. ( 24691418 )
2014
5
The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1. ( 24534056 )
2014
6
A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption. ( 23816405 )
2013
7
A P425R mutation of the proton-coupled folate transporter causing hereditary folate malabsorption produces a highly selective alteration in folate binding. ( 22345511 )
2012
8
Functional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption. ( 22843796 )
2012
9
Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption. ( 21333572 )
2011
10
Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico. ( 21489556 )
2011
11
A mouse model of hereditary folate malabsorption: deletion of the PCFT gene leads to systemic folate deficiency. ( 21346251 )
2011
12
Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption. ( 20805364 )
2010
13
Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption. ( 20795774 )
2010
14
A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption. ( 20005757 )
2010
15
Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption. ( 20686069 )
2010
16
Hereditary folate malabsorption: a positively charged amino acid at position 113 of the proton-coupled folate transporter (PCFT/SLC46A1) is required for folic acid binding. ( 19508863 )
2009
17
A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function. ( 18559978 )
2008
18
The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption. ( 18718264 )
2008
19
The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. ( 17446347 )
2007
20
Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. ( 17129779 )
2006
21
Hereditary folate malabsorption: family report and review of the literature. ( 11807405 )
2002
22
Hereditary Folate Malabsorption ( 20301716 )
1993

Variations for Folate Malabsorption, Hereditary

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

75
# 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 top 50) (show all 195)
# 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.1082-1G> A single nucleotide variant Pathogenic rs80338775 GRCh38 Chromosome 17, 28402322: 28402322
3 SLC46A1 NM_080669.5(SLC46A1): c.194delG (p.Gly65Alafs) deletion Pathogenic rs80338769 GRCh37 Chromosome 17, 26732939: 26732939
4 SLC46A1 NM_080669.5(SLC46A1): c.194delG (p.Gly65Alafs) deletion Pathogenic rs80338769 GRCh38 Chromosome 17, 28405921: 28405921
5 SLC46A1 NM_080669.5(SLC46A1): c.337C> A (p.Arg113Ser) single nucleotide variant Pathogenic rs80338770 GRCh37 Chromosome 17, 26732378: 26732378
6 SLC46A1 NM_080669.5(SLC46A1): c.337C> A (p.Arg113Ser) single nucleotide variant Pathogenic rs80338770 GRCh38 Chromosome 17, 28405360: 28405360
7 SLC46A1 NM_080669.5(SLC46A1): c.954C> G (p.Ser318Arg) single nucleotide variant Pathogenic rs80338772 GRCh37 Chromosome 17, 26731761: 26731761
8 SLC46A1 NM_080669.5(SLC46A1): c.954C> G (p.Ser318Arg) single nucleotide variant Pathogenic rs80338772 GRCh38 Chromosome 17, 28404743: 28404743
9 SLC46A1 NM_080669.5(SLC46A1): c.1126C> T (p.Arg376Trp) single nucleotide variant Pathogenic rs80338773 GRCh37 Chromosome 17, 26729295: 26729295
10 SLC46A1 NM_080669.5(SLC46A1): c.1126C> T (p.Arg376Trp) single nucleotide variant Pathogenic rs80338773 GRCh38 Chromosome 17, 28402277: 28402277
11 SLC46A1 NM_080669.5(SLC46A1): c.337C> T (p.Arg113Cys) single nucleotide variant Pathogenic rs80338770 GRCh37 Chromosome 17, 26732378: 26732378
12 SLC46A1 NM_080669.5(SLC46A1): c.337C> T (p.Arg113Cys) single nucleotide variant Pathogenic rs80338770 GRCh38 Chromosome 17, 28405360: 28405360
13 SLC46A1 NM_080669.5(SLC46A1): c.1274C> G (p.Pro425Arg) single nucleotide variant Pathogenic rs80338774 GRCh37 Chromosome 17, 26727674: 26727674
14 SLC46A1 NM_080669.5(SLC46A1): c.1274C> G (p.Pro425Arg) single nucleotide variant Pathogenic rs80338774 GRCh38 Chromosome 17, 28400658: 28400658
15 SLC46A1 NM_080669.5(SLC46A1): c.197_198delGCinsAA (p.Cys66Ter) indel Pathogenic rs154623632 GRCh37 Chromosome 17, 26732935: 26732936
16 SLC46A1 NM_080669.5(SLC46A1): c.197_198delGCinsAA (p.Cys66Ter) indel Pathogenic rs154623632 GRCh38 Chromosome 17, 28405917: 28405918
17 SLC46A1 NM_080669.5(SLC46A1): c.439G> C (p.Gly147Arg) single nucleotide variant Pathogenic rs80338771 GRCh37 Chromosome 17, 26732276: 26732276
18 SLC46A1 NM_080669.5(SLC46A1): c.439G> C (p.Gly147Arg) single nucleotide variant Pathogenic rs80338771 GRCh38 Chromosome 17, 28405258: 28405258
19 SLC46A1 SLC46A1, 1-BP INS, 17C insertion Pathogenic
20 SLC46A1 NM_080669.5(SLC46A1): c.1004C> A (p.Ala335Asp) single nucleotide variant Pathogenic rs281875208 GRCh37 Chromosome 17, 26731711: 26731711
21 SLC46A1 NM_080669.5(SLC46A1): c.1004C> A (p.Ala335Asp) single nucleotide variant Pathogenic rs281875208 GRCh38 Chromosome 17, 28404693: 28404693
22 SLC46A1 NM_080669.5(SLC46A1): c.204_205delCC (p.Asn68Lysfs) deletion Pathogenic rs397515391 GRCh37 Chromosome 17, 26732928: 26732929
23 SLC46A1 NM_080669.5(SLC46A1): c.204_205delCC (p.Asn68Lysfs) deletion Pathogenic rs397515391 GRCh38 Chromosome 17, 28405910: 28405911
24 SLC46A1 NM_080669.5(SLC46A1): c.1012G> C (p.Gly338Arg) single nucleotide variant Pathogenic rs281875209 GRCh37 Chromosome 17, 26731703: 26731703
25 SLC46A1 NM_080669.5(SLC46A1): c.1012G> C (p.Gly338Arg) single nucleotide variant Pathogenic rs281875209 GRCh38 Chromosome 17, 28404685: 28404685
26 SLC46A1 NM_080669.5(SLC46A1): c.1127G> A (p.Arg376Gln) single nucleotide variant Pathogenic rs281875211 GRCh37 Chromosome 17, 26729294: 26729294
27 SLC46A1 NM_080669.5(SLC46A1): c.1127G> A (p.Arg376Gln) single nucleotide variant Pathogenic rs281875211 GRCh38 Chromosome 17, 28402276: 28402276
28 SLC46A1 NM_080669.5(SLC46A1): c.194dupG (p.Cys66Leufs) duplication Pathogenic rs397515573 GRCh37 Chromosome 17, 26732939: 26732939
29 SLC46A1 NM_080669.5(SLC46A1): c.194dupG (p.Cys66Leufs) duplication Pathogenic rs397515573 GRCh38 Chromosome 17, 28405921: 28405921
30 SLC46A1 NM_080669.5(SLC46A1): c.23_24insC (p.Glu9Glyfs) insertion Pathogenic rs397515574 GRCh37 Chromosome 17, 26733110: 26733110
31 SLC46A1 NM_080669.5(SLC46A1): c.23_24insC (p.Glu9Glyfs) insertion Pathogenic rs397515574 GRCh38 Chromosome 17, 28406092: 28406092
32 SLC46A1 NM_080669.5(SLC46A1): c.466G> T (p.Asp156Tyr) single nucleotide variant Pathogenic rs281875210 GRCh37 Chromosome 17, 26732249: 26732249
33 SLC46A1 NM_080669.5(SLC46A1): c.466G> T (p.Asp156Tyr) single nucleotide variant Pathogenic rs281875210 GRCh38 Chromosome 17, 28405231: 28405231
34 SLC46A1 NM_080669.5(SLC46A1): c.22C> T (p.Pro8Ser) single nucleotide variant Uncertain significance rs41297065 GRCh37 Chromosome 17, 26733111: 26733111
35 SLC46A1 NM_080669.5(SLC46A1): c.22C> T (p.Pro8Ser) single nucleotide variant Uncertain significance rs41297065 GRCh38 Chromosome 17, 28406093: 28406093
36 SLC46A1 NM_080669.5(SLC46A1): c.158C> T (p.Ala53Val) single nucleotide variant Uncertain significance rs41297069 GRCh37 Chromosome 17, 26732975: 26732975
37 SLC46A1 NM_080669.5(SLC46A1): c.158C> T (p.Ala53Val) single nucleotide variant Uncertain significance rs41297069 GRCh38 Chromosome 17, 28405957: 28405957
38 SLC46A1 NM_080669.5(SLC46A1): c.623A> T (p.Tyr208Phe) single nucleotide variant Uncertain significance rs201837257 GRCh37 Chromosome 17, 26732092: 26732092
39 SLC46A1 NM_080669.5(SLC46A1): c.623A> T (p.Tyr208Phe) single nucleotide variant Uncertain significance rs201837257 GRCh38 Chromosome 17, 28405074: 28405074
40 SLC46A1 NM_080669.5(SLC46A1): c.*4780C> T single nucleotide variant Benign rs1128161 GRCh38 Chromosome 17, 28394876: 28394876
41 SLC46A1 NM_080669.5(SLC46A1): c.*4780C> T single nucleotide variant Benign rs1128161 GRCh37 Chromosome 17, 26721895: 26721895
42 SLC46A1 NM_080669.5(SLC46A1): c.*4742A> G single nucleotide variant Uncertain significance rs886052736 GRCh38 Chromosome 17, 28394914: 28394914
43 SLC46A1 NM_080669.5(SLC46A1): c.*4742A> G single nucleotide variant Uncertain significance rs886052736 GRCh37 Chromosome 17, 26721933: 26721933
44 SLC46A1 NM_080669.5(SLC46A1): c.*4661G> A single nucleotide variant Uncertain significance rs575926704 GRCh38 Chromosome 17, 28394995: 28394995
45 SLC46A1 NM_080669.5(SLC46A1): c.*4661G> A single nucleotide variant Uncertain significance rs575926704 GRCh37 Chromosome 17, 26722014: 26722014
46 SLC46A1 NM_080669.5(SLC46A1): c.*4635dupT duplication Benign rs34879232 GRCh38 Chromosome 17, 28395021: 28395021
47 SLC46A1 NM_080669.5(SLC46A1): c.*4635dupT duplication Benign rs34879232 GRCh37 Chromosome 17, 26722040: 26722040
48 SLC46A1 NM_080669.5(SLC46A1): c.*3913A> T single nucleotide variant Uncertain significance rs886052739 GRCh38 Chromosome 17, 28395743: 28395743
49 SLC46A1 NM_080669.5(SLC46A1): c.*3913A> T single nucleotide variant Uncertain significance rs886052739 GRCh37 Chromosome 17, 26722762: 26722762
50 SLC46A1 NM_080669.5(SLC46A1): c.*3785T> C single nucleotide variant Likely benign rs117451747 GRCh38 Chromosome 17, 28395871: 28395871

Expression for Folate Malabsorption, Hereditary

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

Pathways for Folate Malabsorption, Hereditary

Pathways related to Folate Malabsorption, Hereditary according to KEGG:

37
# Name Kegg Source Accession
1 Vitamin digestion and absorption hsa04977
2 Mineral absorption hsa04978

GO Terms for Folate Malabsorption, Hereditary

Sources for Folate Malabsorption, Hereditary

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7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
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34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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