Congenital atransferrinemia

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOTRANSFERRINEMIA, FAMILIAL TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1, INCLUDED
TFQTL1, INCLUDED
Congenital hypotransferrinemia
Number of Symptoms 15
OrphanetNr: 1195
OMIM Id: 209300
ICD-10: D50.8
UMLs: C0521802
C1859593
MeSH: C538259
MedDRA:
Snomed: 111571009

Prevalence, inheritance and age of onset:

Prevalence: 12 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Constitutional anemia due to iron metabolism disorder
 -Rare genetic disease
 -Rare hematologic disease
Disorder of iron metabolism and transport
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
2
 (HPO:0100769) Synovitis Occasional [Orphanet] 86 / 7739
3
 (HPO:0006568) Increased hepatic glycogen content Frequent [Orphanet] 34 / 7739
4
 (HPO:0012090) Abnormality of pancreas morphology Occasional [Orphanet] 31 / 7739
5
 (HPO:0001392) Abnormality of the liver 28 / 7739
6
 (HPO:0001626) Abnormality of the cardiovascular system Occasional [Orphanet] 73 / 7739
7
 (HPO:0001635) Congestive heart failure 232 / 7739
8
 (HPO:0001931) Hypochromic anemia 5 / 7739
9
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
10
 (HPO:0003281) Increased serum ferritin 32 / 7739
11
 (HPO:0012239) Atransferrinemia 1 / 7739
12
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
13
 (OMIM) Transferrin absent 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Hemosiderosis, heart 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Atransferrinemia is characterized by microcytic anemia and by iron loading. It can be treated effectively by plasma infusions (summary by Beutler et al., 2000).
Clinical Description OMIM Heilmeyer et al. (1961) described total absence of transferrin in a 7-year-old girl whose presenting complaint was severe hypochromic anemia. Death occurred from heart failure. Severe hemosiderosis of the heart and liver was found at autopsy. About half-normal ...
Molecular genetics OMIM Beutler et al. (2000) stated that atransferrinemia had been reported in only 8 patients in 6 families. They reported the first known case in the United States and identified mutations in the TF gene (190000.0006-190000.0007). The patient was ...