Hereditary folate malabsorption
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Congenital folate malabsorption |
| Number of Symptoms | 58 |
| OrphanetNr: | 90045 |
| OMIM Id: |
229050
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| ICD-10: |
D52.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 30 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Constitutional megaloblastic anemia due to folate metabolism disorder
-Rare genetic disease -Rare hematologic disease Disorder of folate metabolism and transport -Rare genetic disease Intestinal disease due to vitamin absorption anomaly -Rare gastroenterologic disease -Rare genetic disease |
Symptom Information:
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(HPO:0000010) | Recurrent urinary tract infections | Occasional [Orphanet] | 56 / 7739 | |||
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(HPO:0000155) | Oral ulcer | 9 / 7739 | ||||
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(HPO:0100825) | Cheilitis | Very frequent [Orphanet] | 20 / 7739 | |||
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(HPO:0000206) | Glossitis | Very frequent [Orphanet] | 9 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0000708) | Behavioral abnormality | Frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0011442) | Abnormality of central motor function | Frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0000737) | Irritability | 93 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | Occasional [Orphanet] | 363 / 7739 | |||
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(HPO:0009830) | Peripheral neuropathy | Frequent [Orphanet] | 206 / 7739 | |||
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(HPO:0100660) | Dyskinesia | 19 / 7739 | ||||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002305) | Athetosis | 31 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0100022) | Abnormality of movement | Very frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0002514) | Cerebral calcification | Occasional [Orphanet] | 89 / 7739 | |||
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(HPO:0002135) | Basal ganglia calcification | 37 / 7739 | ||||
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(HPO:0008872) | Feeding difficulties in infancy | 153 / 7739 | ||||
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(HPO:0002014) | Diarrhea | 225 / 7739 | ||||
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(HPO:0002017) | Nausea and vomiting | Very frequent [Orphanet] | 134 / 7739 | |||
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(HPO:0002024) | Malabsorption | Very frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0002577) | Abnormality of the stomach | Frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0011968) | Feeding difficulties | 240 / 7739 | ||||
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(HPO:0002039) | Anorexia | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0000980) | Pallor | Very frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0001889) | Megaloblastic anemia | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0001873) | Thrombocytopenia | Occasional [Orphanet] | 224 / 7739 | |||
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(HPO:0001876) | Pancytopenia | Occasional [Orphanet] | 89 / 7739 | |||
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(HPO:0001882) | Leukopenia | 51 / 7739 | ||||
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(HPO:0004851) | Folate-responsive megaloblastic anemia | 1 / 7739 | ||||
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(HPO:0001875) | Neutropenia | 83 / 7739 | ||||
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(HPO:0001879) | Abnormality of eosinophils | Occasional [Orphanet] | 20 / 7739 | |||
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(HPO:0010701) | Abnormal immunoglobulin level | Very frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0002205) | Recurrent respiratory infections | Occasional [Orphanet] | 254 / 7739 | |||
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(HPO:0002715) | Abnormality of the immune system | Very frequent [Orphanet] | 46 / 7739 | |||
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(HPO:0010978) | Abnormality of immune system physiology | Occasional [Orphanet] | 148 / 7739 | |||
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(HPO:0002719) | Recurrent infections | 107 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(HPO:0003202) | Skeletal muscle atrophy | Occasional [Orphanet] | 281 / 7739 | |||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(OMIM) | Hypoimmunoglobulinemia | 1 / 7739 | ||||
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(OMIM) | Folate malabsorption | 1 / 7739 | ||||
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(OMIM) | Increased susceptibility to pneumocystis and cytomegalovirus infections | 1 / 7739 | ||||
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(OMIM) | Mental retardation if untreated | 5 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(MedDRA:10057870) | Head lag | 3 / 7739 | ||||
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(OMIM) | Decreased serum folate | 1 / 7739 | ||||
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(OMIM) | Delayed development if untreated | 1 / 7739 | ||||
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(OMIM) | Decreased CSF folate | 1 / 7739 | ||||
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(OMIM) | Increased urinary formiminoglutamic acid (FIGLU) | 1 / 7739 | ||||
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(OMIM) | Low plasma methionine | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
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 ... |
| Clinical Description OMIM |
Luhby et al. (1965) observed affected sisters, and Lanzkowsky (1970) described a sporadic case in a 20-year-old. The patients had an isolated defect in intestinal absorption of folic acid and a defect in transport of folic acid across ... |
| Molecular genetics OMIM |
In 2 sisters with hereditary folate malabsorption (Geller et al., 2002), Qiu et al. (2006) identified a homozygous mutation in the SLC46A1 gene (611672.0001). In 5 infants with hereditary folate malabsorption, Zhao et al. (2007) identified ... |