OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOPETROSIS, INFANTILE MALIGNANT 2
OPTB4
Number of Symptoms 7
OrphanetNr:
OMIM Id: 611490
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:0010628) Facial palsy 146 / 7739
2
(HPO:0002757) Recurrent fractures 47 / 7739
3
(HPO:0011002) Osteopetrosis 19 / 7739
4
(HPO:0001433) Hepatosplenomegaly 78 / 7739
5
(HPO:0001923) Reticulocytosis 28 / 7739
6
(HPO:0001903) Anemia 289 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cleiren et al. (2001) reported a girl, born to second-cousin parents of Chinese ancestry, who presented at 3 months of age with Bell palsy. Radiographic skeletal survey revealed severe osteopetrosis and several nondisplaced oblique fractures. She had anemia, ...
Molecular genetics OMIM Based on the similarity between the phenotype of patients with infantile malignant osteopetrosis and that of mice with targeted disruption of the Clcn7 gene (see 602727), which develop severe osteopetrosis and retinal degeneration, Kornak et al. (2001) searched ...