Autosomal recessive malignant osteopetrosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Infantile malignant osteopetrosis |
| Number of Symptoms | 63 |
| OrphanetNr: | 667 |
| OMIM Id: |
259700
259710 611490 615085 |
| ICD-10: |
Q78.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 0.75 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive syndromic optic atrophy
-Rare eye disease -Rare genetic disease Osteopetrosis -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000246) | Sinusitis | Very frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0010628) | Facial palsy | 146 / 7739 | ||||
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(HPO:0000256) | Macrocephaly | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0002007) | Frontal bossing | 366 / 7739 | ||||
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(HPO:0007209) | Facial paralysis | 8 / 7739 | ||||
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(HPO:0000684) | Delayed eruption of teeth | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0001363) | Craniosynostosis | Very frequent [Orphanet] | 132 / 7739 | |||
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(HPO:0006323) | Premature loss of primary teeth | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0000670) | Carious teeth | 145 / 7739 | ||||
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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(HPO:0000639) | Nystagmus | Very frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0000618) | Blindness | 124 / 7739 | ||||
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(HPO:0000597) | Ophthalmoparesis | 71 / 7739 | ||||
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(HPO:0000572) | Visual loss | Very frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0000649) | Abnormality of visual evoked potentials | Very frequent [Orphanet] | 34 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Very frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0001337) | Tremor | Very frequent [Orphanet] | 200 / 7739 | |||
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(HPO:0006824) | Cranial nerve paralysis | Occasional [Orphanet] | 81 / 7739 | |||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0100022) | Abnormality of movement | Very frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0002812) | Coxa vara | 58 / 7739 | ||||
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(HPO:0002653) | Bone pain | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0002754) | Osteomyelitis | 37 / 7739 | ||||
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(HPO:0000772) | Abnormality of the ribs | Very frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0011002) | Osteopetrosis | 19 / 7739 | ||||
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(HPO:0004618) | Sandwich appearance of vertebral bodies | 2 / 7739 | ||||
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(HPO:0003015) | Flared metaphysis | 44 / 7739 | ||||
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(HPO:0002756) | Pathologic fracture | 30 / 7739 | ||||
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(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0000774) | Narrow chest | Very frequent [Orphanet] | 167 / 7739 | |||
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(HPO:0011001) | Increased bone mineral density | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0002659) | Increased susceptibility to fractures | Very frequent [Orphanet] | 110 / 7739 | |||
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(HPO:0004349) | Reduced bone mineral density | Very frequent [Orphanet] | 165 / 7739 | |||
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(HPO:0006487) | Bowing of the long bones | Very frequent [Orphanet] | 95 / 7739 | |||
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(HPO:0005930) | Abnormality of epiphysis morphology | Very frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0001744) | Splenomegaly | Very frequent [Orphanet] | 337 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Very frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0000978) | Bruising susceptibility | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0001933) | Subcutaneous hemorrhage | Very frequent [Orphanet] | 50 / 7739 | |||
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(HPO:0000980) | Pallor | Very frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0010719) | Abnormality of hair texture | Very frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0001641) | Abnormality of the pulmonary valve | Occasional [Orphanet] | 27 / 7739 | |||
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(HPO:0004414) | Abnormality of the pulmonary artery | Occasional [Orphanet] | 50 / 7739 | |||
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(HPO:0002092) | Pulmonary hypertension | Occasional [Orphanet] | 109 / 7739 | |||
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(HPO:0001876) | Pancytopenia | 89 / 7739 | ||||
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(HPO:0003010) | Prolonged bleeding time | Occasional [Orphanet] | 88 / 7739 | |||
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(HPO:0001903) | Anemia | Very frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0003155) | Elevated alkaline phosphatase | 52 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0002901) | Hypocalcemia | Occasional [Orphanet] | 56 / 7739 | |||
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(HPO:0001945) | Fever | Very frequent [Orphanet] | 218 / 7739 | |||
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(HPO:0002148) | Hypophosphatemia | Occasional [Orphanet] | 43 / 7739 | |||
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(HPO:0002205) | Recurrent respiratory infections | Very frequent [Orphanet] | 254 / 7739 | |||
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(HPO:0002104) | Apnea | Occasional [Orphanet] | 106 / 7739 | |||
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(HPO:0002716) | Lymphadenopathy | Very frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0003202) | Skeletal muscle atrophy | Frequent [Orphanet] | 281 / 7739 | |||
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(HPO:0001281) | Tetany | 20 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Very frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0000238) | Hydrocephalus | Very frequent [Orphanet] | 278 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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