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Juvenile type megaloblastic anemia

MedGen UID:
224934
Concept ID:
C1306856
Disease or Syndrome
Synonyms: Congenital pernicious anemia; Familial megaloblastic anemia; Gräsbeck-Imerslund disease; Megaloblastic anemia due to inborn errors of metabolism; Selective cobalamin malabsorption with proteinuria
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Familial megaloblastic anemia (360495000); Megaloblastic anemia due to inborn errors of metabolism (34925000); Congenital pernicious anemia (34925000); Juvenile type megaloblastic anemia (49284006)
 
Orphanet: ORPHA35858

Clinical features

Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Confusion
MedGen UID:
3587
Concept ID:
C0009676
Mental or Behavioral Dysfunction
A mental state characterized by a lack of clear and orderly thought and behavior.
Sensory impairment
MedGen UID:
6974
Concept ID:
C0020580
Finding
Absent or reduced sensitivity to cutaneous stimulation.
Paresthesia
MedGen UID:
14619
Concept ID:
C0030554
Disease or Syndrome
Abnormal cutaneous sensations of tingling, numbness, pressure, cold, and warmth that an individual experiences without the presence of a stimulus. It results from functional disturbances of sensory neurons. Causes include peripheral vascular disease, peripheral neuropathy, and nerve damage.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Megaloblastic anemia
MedGen UID:
1527
Concept ID:
C0002888
Disease or Syndrome
A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Malabsorption of Vitamin B12
MedGen UID:
852749
Concept ID:
C0750292
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVJuvenile type megaloblastic anemia
Follow this link to review classifications for Juvenile type megaloblastic anemia in Orphanet.

Recent clinical studies

Diagnosis

Storm T, Zeitz C, Cases O, Amsellem S, Verroust PJ, Madsen M, Benoist JF, Passemard S, Lebon S, Jønsson IM, Emma F, Koldsø H, Hertz JM, Nielsen R, Christensen EI, Kozyraki R
BMC Med Genet 2013 Oct 24;14:111. doi: 10.1186/1471-2350-14-111. PMID: 24156255Free PMC Article

Prognosis

Storm T, Zeitz C, Cases O, Amsellem S, Verroust PJ, Madsen M, Benoist JF, Passemard S, Lebon S, Jønsson IM, Emma F, Koldsø H, Hertz JM, Nielsen R, Christensen EI, Kozyraki R
BMC Med Genet 2013 Oct 24;14:111. doi: 10.1186/1471-2350-14-111. PMID: 24156255Free PMC Article

Clinical prediction guides

Storm T, Zeitz C, Cases O, Amsellem S, Verroust PJ, Madsen M, Benoist JF, Passemard S, Lebon S, Jønsson IM, Emma F, Koldsø H, Hertz JM, Nielsen R, Christensen EI, Kozyraki R
BMC Med Genet 2013 Oct 24;14:111. doi: 10.1186/1471-2350-14-111. PMID: 24156255Free PMC Article

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