What's New on Genetics Home Reference

May 9, 2008

• Condition: early-onset primary dystonia
• Condition: Lowe syndrome
• Condition: Milroy disease
• Gene: FLT4: fms-related tyrosine kinase 4
• Gene: OCRL: oculocerebrorenal syndrome of Lowe
• Gene: TOR1A: torsin family 1, member A (torsin A)

May 2, 2008

• Condition: aceruloplasminemia
• Condition: nail-patella syndrome
• Gene: CP: ceruloplasmin (ferroxidase)
• Gene: LMX1B: LIM homeobox transcription factor 1, beta

April 25, 2008

• Condition: 5-alpha reductase deficiency
• Condition: fumarase deficiency
• Condition: hereditary leiomyomatosis and renal cell cancer
• Gene: FH: fumarate hydratase
• Gene: SRD5A2: steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)

April 14, 2008

• Condition: ataxia with vitamin E deficiency
• Condition: autosomal recessive spastic ataxia of Charlevoix-Saguenay
• Condition: Beckwith-Wiedemann syndrome
• Condition: Camurati-Engelmann disease
• Condition: hand-foot-genital syndrome
• Condition: popliteal pterygium syndrome
• Condition: Russell-Silver syndrome
• Condition: van der Woude syndrome
• Gene: CDKN1C: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
• Gene: H19: H19, imprinted maternally expressed transcript
• Gene: HOXA13: homeobox A13
• Gene: IGF2: insulin-like growth factor 2 (somatomedin A)
• Gene: IRF6: interferon regulatory factor 6
• Gene: KCNQ1OT1: KCNQ1 overlapping transcript 1
• Gene: SACS: spastic ataxia of Charlevoix-Saguenay (sacsin)
• Gene: TGFB1: transforming growth factor, beta 1
• Gene: TTPA: tocopherol (alpha) transfer protein

More (the last 12 months)