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Erbliche Erkrankungen mit heterotroper Knochenbildung

Erbliche Erkrankungen mit heterotroper Knochenbildung ist eine Gruppe von erkrankungen, wo sich normales Knowchengewebe außerhalb des Skelettes bildet. Meist ist zudem das Körperskelett deformiert.

Gliederung

Metabolische Knochenerkrankungen
Erbliche Erkrankungen mit heterotroper Knochenbildung
Familiäre Tumorcalcinose
Familiäre hyperphosphatämische tumorale Kalzinose
FGF23
GALNT3
KL
Familiäre normophosphatämische tumorale Kalzinose
SAMD9
Fibrodysplasia ossificans progressiva
ACVR1
Progressive knöcherne Heteroplasie
GNAS
Hereditäre Rachitis
Osteopetrose
Osteoporose
Pseudohypoparathyreoidismus

Referenzen:

1.

Shore EM et al. (2002) Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.

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2.

Rogers JG et al. (1979) Paternal age effect in fibrodysplasia ossificans progressiva.

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3.

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4.

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5.

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6.

Kaplan FS et al. (1993) The histopathology of fibrodysplasia ossificans progressiva. An endochondral process.

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7.

Kaplan FS et al. (1993) Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family.

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8.

Connor JM et al. (1993) A three generation family with fibrodysplasia ossificans progressiva.

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9.

Cohen RB et al. (1993) The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients.

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10.

Janoff HB et al. (1996) Fibrodysplasia ossificans progressiva in two half-sisters: evidence for maternal mosaicism.

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11.

Beratis NG et al. (1976) Alkaline phosphatase activity in cultured skin fibroblasts from fibrodysplasia ossificans progressiva.

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12.

Bastepe M et al. (2005) GNAS locus and pseudohypoparathyroidism.

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13.

Stoll C et al. () Progressive osseous heteroplasia: an uncommon cause of ossification of soft tissues.

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14.

Eddy MC et al. (2000) Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.

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20.

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22.

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23.

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25.

Kaplan FS et al. (1994) Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases.

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26.

Schmidt AH et al. (1994) Hemimelic progressive osseous heteroplasia. A case report.

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27.

Urtizberea JA et al. (1998) Progressive osseous heteroplasia. Report of a family.

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28.

Xu MQ et al. (2002) Reported noggin mutations are PCR errors.

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29.

Lin GT et al. (2006) De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva.

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30.

Nakajima M et al. (2007) The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.

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31.

Furuya H et al. (2008) A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H).

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32.

Bocciardi R et al. (2009) Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.

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33.

Kaplan FS et al. (2009) Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

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34.

Petrie KA et al. (2009) Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.

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35.

Barnett CP et al. (2011) Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis.

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36.

Smith R et al. (1976) Myositis ossificans progressiva. Clinical features of eight patients and their response to treatment.

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37.

Kan L et al. (2004) Transgenic mice overexpressing BMP4 develop a fibrodysplasia ossificans progressiva (FOP)-like phenotype.

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38.

Shafritz AB et al. (1996) Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva.

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39.

Lucotte G et al. (1999) A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient.

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40.

Xu MQ et al. (2000) Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP).

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41.

Sémonin O et al. (2001) Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva.

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42.

Shore EM et al. (2006) A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.

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43.

None (2002) Significant difference of opinion regarding the role of noggin in fibrodysplasia ossificans progressiva.

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44.

Fontaine K et al. (2005) A new mutation of the noggin gene in a French Fibrodysplasia ossificans progressiva (FOP) family.

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45.

Lucotte G et al. (2007) Mutations of the noggin and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP).

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46.

Feldman G et al. (2000) Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31.

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47.

Lucotte G et al. (2000) Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22.

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48.

Rogers JG et al. (1979) Fibrodysplasia ossificans progressiva. A survey of forty-two cases.

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49.

Maxwell WA et al. (1977) Histochemical and ultrastructural studies in fibrodysplasia ossificans progressiva (myositis ossificans progressiva).

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50.

Daltroff G et al. (1992) [Fibromatosis and fibrodysplasia ossificans progressiva. An avoidable diagnostic error].

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51.

de la Peña LS et al. (2005) Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA.

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52.

Kitterman JA et al. (2005) Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva.

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53.

Seemann P et al. (2008) The tale of FOP, NOGGIN and myristoylation: no data, no proof!

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54.

Kaplan FS et al. (2008) Response to "Mutations of the NOGGIN and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)" by Lucotte et al.

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Update: 14. August 2020
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