MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Glycogen storage disease due to glucose-6-phosphatase deficiency

ORPHA:364Kr.
Autosomal recessive

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

ORPHA:79258Kl. subt.
Autosomal recessive

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

ORPHA:79259Kl. subt.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency

ORPHA:367Kr.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form

ORPHA:308712Kl. subt.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

ORPHA:308684Kl. subt.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

ORPHA:308698Kl. subt.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

ORPHA:308670Kl. subt.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

ORPHA:308655Kl. subt.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

ORPHA:308638Kl. subt.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

ORPHA:308621Kl. subt.
Autosomal recessive

Glycogen storage disease due to glycogen debranching enzyme deficiency

ORPHA:366Kr.
Autosomal recessive

Glycogen storage disease due to hepatic glycogen synthase deficiency

ORPHA:2089Kr.
Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

ORPHA:284435Kl. subt.
Autosomal dominant, Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

ORPHA:284426Kl. subt.
Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase deficiency

ORPHA:2364Kr.

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

ORPHA:79240Kr.
Autosomal recessive

Glycogen storage disease due to liver glycogen phosphorylase deficiency

ORPHA:369Kr.
Autosomal recessive

Glycogen storage disease due to liver phosphorylase kinase deficiency

ORPHA:264580Kr.
Autosomal recessive, X-linked recessive

Glycogen storage disease due to muscle and heart glycogen synthase deficiency

ORPHA:137625Kr.
Autosomal recessive

Glycogen storage disease due to muscle beta-enolase deficiency

ORPHA:99849Kr.
Autosomal recessive

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

ORPHA:368Kr.
Autosomal recessive

Glycogen storage disease due to muscle phosphofructokinase deficiency

ORPHA:371Kr.
Autosomal recessive

Glycogen storage disease due to muscle phosphorylase kinase deficiency

ORPHA:715Kr.
Autosomal recessive, X-linked recessive