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Zentrum für Nephrologie und Stoffwechsel
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Synpolydaktylie Typ 1

Synpolydaktylie vom Typ Vordingborg ist eine autosomal dominante Erkrankung, die auf Mutationen im HOXD13-Gen zurückzuführen ist.

Gliederung

Angeborene Skelettfelbildungen
Al-Gazali-Bakalinova-Syndrom
Brachydaktylie
Branchio-okulo-faziales Syndrom
Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel
Hydrolethalus 2
Kongenitale Kontraktur-Arachnodaktylie
Lakrimo-aurikulo-dento-digitales Syndrom
Lippen-Kiefer-Gaumenspalte 11
Multiple Synostosen
Orofaciodigitales Syndrom
Parodontales Ehlers-Danlos-Syndrom
Proximaler Symphalangismus
Renale tubuläre Azidose mit Arthrogrypose
Simpson-Golabi-Behmel-Syndrom
Stapesankylose mit breiten Daumen und Zehen
Syndaktylie Typ 5
Syndrom der multiplen Synostosen 3
Synpolydaktylie Typ 1
HOXD13
Tarsal-Karpal-Fusions-Syndrom
Tatton-Brown-Rahman-Syndrom
Townes-Brocks-Syndrome
Trigonocephalie 2
Van Maldergem-Syndrom 2

Referenzen:

1.

Kjaer KW et al. (2005) A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.

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2.

Xin Q et al. (2012) Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly.

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3.

None (2012) Syndactyly: phenotypes, genetics and current classification.

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4.

PIPKIN SB et al. (1946) Variation of expression of polydactyly.

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5.

None (2011) Type II familial synpolydactyly: report on two families with an emphasis on variations of expression.

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6.

None (1947) Zygodactyly and associated variations in a Utah family.

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7.

Malik S et al. (2008) Synpolydactyly: clinical and molecular advances.

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8.

Kjaer KW et al. (2002) HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.

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9.

Goodman FR et al. (2002) A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.

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10.

Zákány J et al. (1996) Synpolydactyly in mice with a targeted deficiency in the HoxD complex.

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11.

Camera G et al. (1995) Synpolydactyly (type II syndactyly) with aplasia/hypoplasia of the middle phalanges of the toes: report on a family with eight affected members in four generations.

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12.

Akarsu AN et al. (1995) A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?

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13.

Sarfarazi M et al. (1995) Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker.

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14.

None (1971) Treatment of central polydactyly.

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15.

Cross HE et al. (1968) Type II syndactyly.

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16.

Merlob P et al. (1986) Type II syndactyly or synpolydactyly.

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17.

Shi X et al. (2013) A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning.

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18.

Zhao X et al. (2007) Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

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19.

Sayli BS et al. (1995) A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.

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20.

Muragaki Y et al. (1996) Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.

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21.

Akarsu AN et al. (1996) Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.

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22.

Goodman F et al. (1998) Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.

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23.

Debeer P et al. (2002) Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.

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24.

Kan SH et al. (2003) An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.

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25.

Fantini S et al. (2009) A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype.

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26.

Kurban M et al. (2011) A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.

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27.

Brison N et al. (2012) An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning.

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28.

Wang B et al. (2012) A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family.

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29.

Zhou X et al. (2013) A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family.

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30.

Brison N et al. (2014) Joining the fingers: a HOXD13 Story.

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31.

Dai L et al. (2014) Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.

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32.

Orphanet article

Orphanet ID 295195 external link
33.

OMIM.ORG article

Omim 186000 external link
Update: 14. August 2020
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