OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOPETROSIS, INFANTILE MALIGNANT 3
OPTB5
Number of Symptoms 6
OrphanetNr:
OMIM Id: 259720
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
(OMIM) Osteoclasts markedly reduced (usually increased in severe recessive osteopetrosis, 259700) 1 / 7739
2
(OMIM) Severe osteopetrosis 1 / 7739
3
(OMIM) Severe histologic brain changes 1 / 7739
4
(HPO:0000238) Hydrocephalus 278 / 7739
5
(OMIM) In utero skeletal hyperdensity 1 / 7739
6
(OMIM) In utero fractures 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM El Khazen et al. (1986) reported severe osteopetrosis with in utero fractures in 2 successive offspring, a male and a female, born of first-cousin Moroccan parents. They suggested that this was a distinct entity because osteoclasts were markedly ...
Molecular genetics OMIM The spontaneous mouse 'grey-lethal' (gl) mutation is responsible for a coat color defect and for the development of the most severe autosomal recessive form of osteopetrosis. Using a positional cloning approach, Chalhoub et al. (2003) cloned the mouse ...