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osteopetrosis
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osteopetrosis
osteopetrosis Path. (ɒstiːəʊpɛˈtrəʊsɪs) [f. osteo- + L. petra, Gr. πέτρα rock + -osis.] A rare hereditary disease in man in which there is excessive formation of dense trabecular bone with resulting brittleness; also, any similar disease of animals.1926 R. G. Karshner in Amer. Jrnl. Roentgenol. XVI....
Oxford English Dictionary
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Osteopetrosis
Autosomal recessive osteopetrosis (ARO), also known as malignant infantile osteopetrosis or infantile malignant osteopetrosis (IMO), is a rare type osteopetrosis, and all known cases of intermediate autosomal osteopetrosis.
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Malignant infantile osteopetrosis
Neuropathic infantile osteopetrosis
Infantile osteopetrosis with renal tubular acidosis
Infantile osteopetrosis with immunodeficiency
IO with leukocyte adhesion deficiency syndrome (LAD-III)
Intermediate osteopetrosis
Autosomal dominant osteopetrosis (Albers-Schonberg)
Pyknodysostosis (osteopetrosis
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Osteosclerosis
Hereditary osteosclerosis
Malignant infantile osteopetrosis
Neuropathic infantile osteopetrosis
Infantile osteopetrosis with renal tubular acidosis Infantile osteopetrosis with immunodeficiency
IO with leukocyte adhesion deficiency syndrome (LAD-III)
Intermediate osteopetrosis
Autosomal dominant
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OSTM1
Osteopetrosis-associated transmembrane protein 1 is a protein that in humans is encoded by the OSTM1 gene. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis.
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Albers-Schönberg
Albers-Schönberg, n. Path. (ˌɑːlbəz ˈʃɜːnbɛəg) Also -Schonberg. The name of H. E. Albers-Schönberg (1865–1921), German radiologist, used attrib. and in the possessive to designate osteopetrosis as it occurs in man (described by him in 1904), esp. the mild form.1922, etc. [see marble bone s.v. marble...
Oxford English Dictionary
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Pycnodysostosis
History
The disease was first described by Maroteaux and Lamy in 1962 at which time it was defined by the following characteristics: dwarfism; osteopetrosis Differences from osteopetrosis
Many of the radiological findings of PYCD are similar to those of osteopetrosis, a disease that causes bone density due
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CLCN7
Clinical significance
Mutations in the CLCN7 gene have been reported to be associated with autosomal dominant osteopetrosis type II, a rare disease of See also
Chloride channel
References
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on CLCN7-Related Osteopetrosis
Ion channels
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OSTM1
OSTM1 (Osteopetrosis associated transmembrane protein 1) هوَ بروتين يُشَفر بواسطة جين OSTM1 في الإنسان.
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Leucosis
sheep
Feline leucosis
Feline leukemia virus
Avian leucosis and related diseases
Avian sarcoma leukosis virus
Lymphoid leucosis
Erythroblastosis
Osteopetrosis
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Anemia & edar: Causes & Reasons - Symptoma
Anemia & edar Symptom Checker: Possible causes include Autosomal Recessive Osteopetrosis Type 7. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
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PLEKHM1
Clinical significance
Mutations in the PLEKHM1 gene are associated with osteopetrosis OPTB6.
References
Further reading
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en.wikipedia.org
List of diseases (O)
Osteopathia condensans disseminata with osteopoikilosis
Osteopathia striata cranial sclerosis
Osteopathia striata pigmentary dermopathy white forelock
Osteopetrosis autosomal dominant type 1
Osteopetrosis lethal
Osteopetrosis renal tubular acidosis
Osteopetrosis, (generic term)
Osteopetrosis, malignant
Osteopetrosis
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Hepatosplenomegaly
Common causes
Rare disorders
Lipoproteinlipase deficiency
Multiple sulfatase deficiency
Osteopetrosis
Adult-onset Still's disease (AOSD)
References
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en.wikipedia.org