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Hajdu-Cheney-Syndrom

Das Hajdu-Cheney-Syndrom ist eine autosomal dominante Erkrankung, die auf Mutationen des NOTCH2-Gens beruht. Klinisch ist sie charakteriziert durch Skelettfehlbildungen und polyzystischen Nieren.

Gliederung

Zystische Nierenerkrankungen
Alagille-Syndrom 2
Autosomal dominante polyzystische Nierenerkrankung
Autosomal rezessive polyzystische Nieren und Lebererkrankung
Branchio-oto-renale Dysplasie
Glomerulozystische Nierenerkrankung mit Hyperurikämie und Isosthenurie
Hajdu-Cheney-Syndrom
NOTCH2
Komplex medullärer Zystennierenerkrankungen
Nierenzysten und Diabetes (RCAD)
Polyzystische Nierenerkrankung mit hyperinsulinämischer Hypoglycämie

Referenzen:

1.

Rosser EM et al. (1996) Serpentine fibula syndrome: expansion of the phenotype with three affected siblings.

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2.

HAJDU N et al. (1948) Cranio-skeletal dysplasia.

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3.

Maas SM et al. (2004) Further delineation of Frank-ter Haar syndrome.

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4.

None (1965) ACRO-OSTEOLYSIS.

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5.

Brennan AM et al. (2001) Hajdu--Cheney syndrome: evolution of phenotype and clinical problems.

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6.

None (1997) Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome?

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7.

Fryns JP et al. (1997) Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome.

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8.

Adès LC et al. (1993) Hydrocephalus in Hajdu-Cheney syndrome.

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9.

Majewski F et al. (1993) Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders.

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10.

O'Reilly MA et al. (1994) Hajdu-Cheney syndrome.

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11.

Hamel BC et al. (1995) Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report.

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12.

ter Haar B et al. (1982) Melnick-Needles syndrome: indication for an autosomal recessive form.

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13.

Matisonn A et al. (1973) Familial acro-osteolysis.

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14.

Herrmann J et al. (1973) Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome). Review of a genetic "acro-osteolysis" syndrome.

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15.

Dereymaeker AM et al. (1986) Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity.

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16.

None (1988) Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity?

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17.

Kaplan P et al. (1995) Cystic kidney disease in Hajdu-Cheney syndrome.

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18.

Ramos FJ et al. (1998) Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.

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19.

Albano LM et al. (2007) Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.

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20.

Simpson MA et al. (2011) Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.

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21.

Isidor B et al. (2011) Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

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22.

Majewski J et al. (2011) Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

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23.

Gray MJ et al. (2012) Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.

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24.

Elias AN et al. (1978) Hereditary osteodysplasia with acro-osteolysis. (The Hajdu-Cheney syndrome).

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25.

Gilula LA et al. (1976) Idiopathic nonfamilial acro-osteolysis with cortical defects and mandibular ramus osteolysis.

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26.

Weleber RG et al. (1976) The Hajdu-Cheney syndrome. Report of two cases and review of the literature.

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27.

Brown DM et al. (1976) The acro-osteolysis syndrome: Morphologic and biochemical studies.

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28.

Kawamura J et al. (1991) Hajdu-Cheney syndrome: MR imaging.

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29.

Udell J et al. (1986) Idiopathic familial acroosteolysis: histomorphometric study of bone and literature review of the Hajdu-Cheney syndrome.

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30.

OMIM.ORG article

Omim 102500 external link
31.

Orphanet article

Orphanet ID 955 external link
32.

Wikipedia Artikel

Wikipedia DE (Hajdu-Cheney-Syndrom) external link
Update: 14. August 2020
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