OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8

General Information (adopted from Orphanet):

Synonyms, Signs: OPTB8
Number of Symptoms 22
OrphanetNr:
OMIM Id: 615085
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:0000256) Macrocephaly 298 / 7739
2
(HPO:0010628) Facial palsy 146 / 7739
3
(HPO:0002007) Frontal bossing 366 / 7739
4
(HPO:0000648) Optic atrophy 238 / 7739
5
(HPO:0000402) Stenosis of the external auditory canal 22 / 7739
6
(HPO:0011002) Osteopetrosis 19 / 7739
7
(HPO:0001744) Splenomegaly 337 / 7739
8
(HPO:0002240) Hepatomegaly 467 / 7739
9
(HPO:0011968) Feeding difficulties 240 / 7739
10
(HPO:0001508) Failure to thrive 454 / 7739
11
(HPO:0001903) Anemia 289 / 7739
12
(HPO:0001873) Thrombocytopenia 224 / 7739
13
(OMIM) Narrowed medullary space due to encroachment of cortical bone 1 / 7739
14
(OMIM) Vision loss, unilateral or bilateral 1 / 7739
15
(OMIM) Fully ossified sphenoid sinuses 1 / 7739
16
(OMIM) Fully ossified ethmoid air cells 1 / 7739
17
(OMIM) Narrow optic canal 1 / 7739
18
(OMIM) Dense bones 2 / 7739
19
(OMIM) Elevated lactate dehydrogenase 4 / 7739
20
(OMIM) Sclerosis of semicircular canals 1 / 7739
21
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
(OMIM) Open fontanel 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Aker et al. (2012) studied 4 affected children from 2 consanguineous Palestinian families with osteopetrosis (OPT). All 4 patients had older relatives with OPT, and were suspected of having OPT at 1 to 4 months of age because ...
Molecular genetics OMIM In affected children from 2 unrelated consanguineous Palestinian families segregating autosomal recessive osteopetrosis (OPT) mapping to chromosome 7p15, Aker et al. (2012) sequenced 5 candidate genes and identified homozygosity for a missense mutation in the SNX10 gene (R51Q; ...