Osteopetrosis - hypogammaglobulinemia

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOPETROSIS, OSTEOCLAST-POOR, WITH HYPOGAMMAGLOBULINEMIA
OPTB7
Autosomal recessive osteopetrosis type 7
Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
Number of Symptoms 10
OrphanetNr: 178389
OMIM Id: 612301
ICD-10: Q78.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 8 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Osteopetrosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Other immunodeficiency syndrome with predominantly antibody defects
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0007807) Optic nerve compression 18606301 IBIS 6 / 7739
2
 (HPO:0000639) Nystagmus 18606301 IBIS 555 / 7739
3
 (HPO:0000529) Progressive visual loss 18606301 IBIS 54 / 7739
4
 (HPO:0001263) Global developmental delay 18606301 IBIS 853 / 7739
5
 (HPO:0100671) Abnormal trabecular bone morphology 18606301 IBIS 1 / 7739
6
 (HPO:0011002) Osteopetrosis 18606301 IBIS 19 / 7739
7
 (HPO:0001903) Anemia 18606301 IBIS 289 / 7739
8
 (HPO:0004313) Decreased antibody level in blood 3/4 [HPO:probinson] 18606301 IBIS 47 / 7739
9
 (HPO:0006532) Recurrent pneumonia 18606301 IBIS 48 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Guerrini et al. (2008) described 8 patients from 7 unrelated families with severe osteoclast-poor osteopetrosis. Serum immunoglobulin levels were found to be reduced in 3 of 4 patients who underwent assessment; 2 of the 3 hypogammaglobulinemic patients failed ...
Molecular genetics OMIM In 8 patients with osteoclast-poor osteopetrosis from 7 unrelated families, who were known to lack mutations in genes associated with autosomal recessive osteopetrosis, Guerrini et al. (2008) identified homozygosity or compound heterozygosity for 7 different mutations in the ...