Osteopetrosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 46
OrphanetNr: 2781
OMIM Id:
ICD-10: Q78.2
UMLs:
MeSH: D010022
MedDRA: 10031280
Snomed: 1926006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
X-linked recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with increased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000124) Renal tubular dysfunction Occasional [Orphanet] 46 / 7739
2
 (HPO:0000929) Abnormality of the skull Very frequent [Orphanet] 53 / 7739
3
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
4
 (HPO:0001363) Craniosynostosis Very frequent [Orphanet] 132 / 7739
5
 (HPO:0000303) Mandibular prognathia Occasional [Orphanet] 179 / 7739
6
 (HPO:0000670) Carious teeth Occasional [Orphanet] 145 / 7739
7
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
8
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
9
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
10
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
11
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
12
 (HPO:0006824) Cranial nerve paralysis Very frequent [Orphanet] 81 / 7739
13
 (HPO:0001291) Abnormality of the cranial nerves Very frequent [Orphanet] 27 / 7739
14
 (HPO:0009830) Peripheral neuropathy Very frequent [Orphanet] 206 / 7739
15
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
16
 (HPO:0003468) Abnormality of the vertebrae Very frequent [Orphanet] 77 / 7739
17
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
18
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
19
 (HPO:0100734) Abnormality of vertebral epiphysis morphology Very frequent [Orphanet] 4 / 7739
20
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
21
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
22
 (HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
23
 (HPO:0002754) Osteomyelitis Very frequent [Orphanet] 37 / 7739
24
 (HPO:0000765) Abnormality of the thorax Very frequent [Orphanet] 64 / 7739
25
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
26
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
27
 (HPO:0002758) Osteoarthritis Occasional [Orphanet] 78 / 7739
28
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
29
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
30
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
31
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
32
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
33
 (HPO:0001933) Subcutaneous hemorrhage Very frequent [Orphanet] 50 / 7739
34
 (HPO:0000978) Bruising susceptibility Frequent [Orphanet] 123 / 7739
35
 (HPO:0001641) Abnormality of the pulmonary valve Occasional [Orphanet] 27 / 7739
36
 (HPO:0001876) Pancytopenia Frequent [Orphanet] 89 / 7739
37
 (HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
38
 (HPO:0012145) Abnormality of multiple cell lineages in the bone marrow Occasional [Orphanet] 11 / 7739
39
 (HPO:0001882) Leukopenia Frequent [Orphanet] 51 / 7739
40
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
41
 (HPO:0002148) Hypophosphatemia Very frequent [Orphanet] 43 / 7739
42
 (HPO:0002901) Hypocalcemia Very frequent [Orphanet] 56 / 7739
43
 (HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
44
 (HPO:0002716) Lymphadenopathy Very frequent [Orphanet] 129 / 7739
45
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
46
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: