Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Acrocallosal Syndrom

Das acrocallosal Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen KIF7 hervorgerufen wird.

Gliederung

Ziliopathie
Acrocallosal Syndrom
KIF7
COACH-Syndrom
Geistige Retardierung, stammbetonte Adipositas, Netzhautdystrophie und Mikropenis
Joubert-Syndrom
Kranioektodermale Dysplasie
Lebersche kongenitale Amaurose
Malformationen der Rechts-Links-Achse
Meckel-Syndrom
Nephronophthise
Orofaciodigitales Syndrom
Primäre ziliäre Dyskinesie 3 mit oder ohne Situs inversus
Retinitis pigmentosa
SRTD-Syndrom (Short-rib thoracic dysplasia)
Senior-Loken-Syndrom
Simpson-Golabi-Behmel-Syndrom

Referenzen:

1.

Putoux A et. al. (2011) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

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2.

Dafinger C et. al. (2011) Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

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3.

Lee JE et. al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

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4.

None (1979) Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?

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5.

Brueton LA et. al. (1992) The acrocallosal syndrome and Greig syndrome are not allelic disorders.

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6.

Cataltepe S et. al. (1992) A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity.

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7.

Pfeiffer RA et. al. (1992) Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3.

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8.

Gelman-Kohan Z et. al. (1991) Further delineation of the acrocallosal syndrome.

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9.

Lungarotti MS et. al. (1991) Acrocallosal syndrome: a new case.

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10.

Fryns JP et. al. (1991) The variable clinical spectrum and mental prognosis of the acrocallosal syndrome.

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11.

Turolla L et. al. (1990) How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case.

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12.

Yüksel M et. al. (1990) The acrocallosal syndrome in a Turkish boy.

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13.

Hendriks HJ et. al. (1990) Acrocallosal syndrome.

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14.

Temtamy SA et. al. (1989) Hypogenitalism in the acrocallosal syndrome.

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15.

Casamassima AC et. al. (1989) Acrocallosal syndrome: additional manifestations.

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16.

Salgado LJ et. al. (1989) Acrocallosal syndrome in a girl born to consanguineous parents.

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17.

Moeschler JB et. al. (1989) Acrocallosal syndrome: new findings.

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18.

Philip N et. al. (1988) The acrocallosal syndrome.

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19.

None (1988) The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

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20.

Schinzel A et. al. (1986) The acrocallosal syndrome in sisters.

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21.

Legius E et. al. (1985) Schinzel acrocallosal syndrome: a variant example of the Greig syndrome?

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22.

Nelson MM et. al. (1982) The acrocallosal syndrome.

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23.

Schinzel A et. al. (1980) Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

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24.

Christianson AL et. al. (1994) Acrocallosal syndrome in two African brothers born to consanguineous parents.

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25.

Kedar I et. al. (1996) Recurrent anencephaly as a primary manifestation of the acrocallosal syndrome.

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26.

Koenig R et. al. (2002) Spectrum of the acrocallosal syndrome.

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27.

Elson E et. al. (2002) De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.

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28.

None (2008) The Greig cephalopolysyndactyly syndrome.

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29.

Aykut A et. al. (2008) An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia.

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Update: 26. September 2018