HYPOPROTEINEMIA, HYPERCATABOLIC

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 241600
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003022) Hypoplasia of the ulna 40 / 7739
2
(HPO:0002986) Radial bowing 27 / 7739
3
(HPO:0009821) Forearm undergrowth 8 / 7739
4
(HPO:0004315) IgG deficiency 38 / 7739
5
(HPO:0003075) Hypoproteinemia 27 / 7739
6
(HPO:0003073) Hypoalbuminemia 40 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Bowing of the radii 3 / 7739
9
(OMIM) Hypoproteinemia due to hypercatabolism 1 / 7739
10
(OMIM) Decreased serum albumin 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Waldmann et al. (1968), Waldmann (1969), and Waldmann and Terry (1990) investigated a 34-year-old woman and her 17-year-old brother, products of a first-cousin marriage, who had marked reduction in serum concentrations of immunoglobulin and albumin (ALB; 103600). The ...
Molecular genetics OMIM In the 2 sibs reported by Waldmann (1969), Wani et al. (2006) identified a homozygous mutation in the B2M gene (109700.0001). Both sibs had B2M serum levels that were less than 1.0% of normal as well as soluble ...