Protein R deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: TCN1 DEFICIENCY
R BINDER DEFICIENCY WITH LACTOFERRIN DEFICIENCY, INCLUDED
COBALAMIN R BINDER PROTEIN DEFICIENCY TRANSCOBALAMIN I DEFICIENCY WITH LACTOFERRIN DEFICIENCY, INCLUDED
COBALAMIN PSEUDODEFICIENCY DUE TO TRANSCOBALAMIN DEFICIENCY
Number of Symptoms 9
OrphanetNr: 2967
OMIM Id: 193090
ICD-10: E53.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of cobalamin metabolism and transport
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003401) Paresthesia 42 / 7739
2
 (HPO:0001315) Reduced tendon reflexes 160 / 7739
3
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
4
 (OMIM) Decreased serum and salivary lactoferrin has been described in 1 family 1 / 7739
5
 (OMIM) Mean corpuscular volume may mildly increased or normal 1 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
 (OMIM) Decreased transcobalamin I in saliva, serum, gastric juice, and cerebrospinal fluid 1 / 7739
8
 (OMIM) Decreased serum cobalamin 1 / 7739
9
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Carmel and Herbert (1969) reported 2 adult brothers from a Puerto Rican-Corsican family with decreased serum cobalamin (vitamin B12) due to congenital absence of the R-type binders of cobalamin in serum, saliva, cerebrospinal fluid, gastric juice, and granulocytes. ...
Molecular genetics OMIM In 1 of the brothers with TCN1 deficiency originally reported by Carmel and Herbert (1969), Lin et al. (2001) did not identify any mutations in the promoter region of the initial coding sequence of the TCN1 gene (189905). ...