Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

X-chromosomale Charcot-Marie-Tooth-Krankheit Typ 5

Die Charcot-Marie-Tooth-Krankheit Typ 5 ist eine x-chromosomal rezessive Erkrankung, die durch Mutationen im PRPS1-Gen hervorgerufen wird.

Gliederung

Charcot-Marie-Tooth-Hoffmann-Krankheit
INF2
X-chromosomale Charcot-Marie-Tooth-Krankheit Typ 5
PRPS1

Referenzen:

1.

Synofzik M et al. (2014) X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

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2.

Almoguera B et al. (2014) Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

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3.

Kim HJ et al. (2007) Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).

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4.

Park J et al. (2013) Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

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5.

Robusto M et al. (2015) The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

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6.

Rosenberg RN et al. (1967) Familial opticoacoustic nerve degeneration and polyneuropathy.

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7.

None (1984) Sensorineural deafness and peripheral neuropathy.

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8.

Kim HJ et al. (2005) A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

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9.

OMIM.ORG article

Omim 311070 external link
10.

Orphanet article

Orphanet ID 99014 external link
Update: 14. August 2020
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