Gräsbeck-Imerslund disease

General Information (adopted from Orphanet):

Synonyms, Signs: IMERSLUND-GRASBECK SYNDROME
ENTEROCYTE COBALAMIN MALABSORPTION
ENTEROCYTE INTRINSIC FACTOR RECEPTOR, DEFECT OF
PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA
MGA1
IGS
Selective cobalamin malabsorption with proteinuria
Familial megaloblastic anemia
Number of Symptoms 16
OrphanetNr: 35858
OMIM Id: 261100
ICD-10: D51.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 300 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
 -Rare genetic disease
 -Rare hematologic disease
Disorder of cobalamin metabolism and transport
 -Rare genetic disease
Intestinal disease due to vitamin absorption anomaly
 -Rare gastroenterologic disease
 -Rare genetic disease
Nephropathy secondary to a storage or other metabolic disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0000093) Proteinuria 169 / 7739
2
(HPO:0000726) Dementia 131 / 7739
3
(HPO:0003474) Sensory impairment 54 / 7739
4
(HPO:0009830) Peripheral neuropathy 206 / 7739
5
(HPO:0003401) Paresthesia 42 / 7739
6
(HPO:0001289) Confusion 36 / 7739
7
(HPO:0001889) Megaloblastic anemia 28 / 7739
8
(HPO:0200118) Malabsorption of Vitamin B12 3 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Pernicious anemia, not influenced by intrinsic factor 1 / 7739
11
(HPO:0011463) Childhood onset 65 / 7739
12
(OMIM) Normal intrinsic factor protein 1 / 7739
13
(OMIM) Megaloblastic anemia, chronic, relapsing 1 / 7739
14
(OMIM) Normal serum folate levels 1 / 7739
15
(OMIM) No antibodies to intrinsic factor 1 / 7739
16
(OMIM) Decreased levels of serum vitamin B12 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (261000). ...
Diagnosis OMIM In 7 families previously diagnosed with Imerslund-Grasbeck syndrome due to inconclusive results on radiocobalamin absorption tests, but who were negative for mutations in the CUBN or the AMN gene, Tanner et al. (2005) identified homozygosity for 6 different ...
Clinical Description OMIM Waters and Murphy (1963) reported 3 affected brothers. Both parents and 5 other sibs had subnormal or borderline vitamin B12 absorption. See also Lambert et al. (1961). Mollin et al. (1955) reported juvenile pernicious anemia in the offspring ...
Molecular genetics OMIM Tanner et al. (2003) identified 3 different mutations in the AMN gene in homozygosity among 11 affected individuals from 5 families, with heterozygosity found in the 5 parents available for study.

Tanner et al. (2004) studied ...