GARD Rare Disease Listings

Rare Disease Database

Rare Disease Database GARD Rare Diseases Database
GARD Summary
X-linked agammaglobulinemia

Also known as: Bruton type agammaglobulinemia Bruton's agammaglobulinemia XLA Agammaglobulinemia, BTK Agammaglobulinemia, Bruton tyrosine kinase BTK-deficiency

GARD Summary
X-linked cardiac valvular dysplasia

Also known as: CVD1 Valvular heart disease, congenital Myxomatous valvular dystrophy, X-linked XMVD FLNA-related X-linked myxomatous valvular dysplasia FLNA-related valvular dystrophy Filamin A-related X-linked myxomatous valvular dysplasia Dystrophie valvulaire associée à FLNA

GARD Summary
X-linked cerebral adrenoleukodystrophy

Also known as: Adrenoleukodystrophy childhood cerebral form ALD childhood cerebral form Childhood cerebral ALD Adrenoleukodystrophy X-linked cerebral form X-CALD

GARD Summary
X-linked Charcot-Marie-Tooth disease type 1

Also known as: CMTX CMTX 1 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked Hereditary motor and sensory neuropathy, X-linked HMSN, X-linked Charcot-Marie-Tooth disease, X-linked, 1 Charcot Marie Tooth disease X-linked 1 Charcot-Marie-Tooth neuropathy X type 1

GARD Summary
X-linked Charcot-Marie-Tooth disease type 2

Also known as: CMTX 2 Charcot-Marie-Tooth disease, X-linked recessive, 2 Charcot Marie Tooth disease X-linked recessive 2 CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 2

GARD Summary
X-linked Charcot-Marie-Tooth disease type 4

Also known as: CMTX 4 Neuropathy, axonal motor-sensory with deafness and mental retardation NAMSD NADMR Charcot-Marie-Tooth disease, X-linked recessive, 4 Charcot-Marie-Tooth disease with deafness and mental retardation Cowchock syndrome

GARD Summary
X-linked Charcot-Marie-Tooth disease type 5

Also known as: Charcot-Marie-Tooth Neuropathy X Type 5 CMTX5 Rosenberg-Chutorian syndrome Optic atrophy, polyneuropathy, and deafness Optic atrophy, sensorineural hearing loss and polyneuropathy Familial opticoacoustic nerve degeneration and polyneuropathy

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