Disease #00499

Official abbreviation SMA-1
Name atrophy, muscular, spinal, type 1 (SMA-1, Werdnig-Hoffman disease, severe infantile acute)
OMIM ID 253300
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 31
Phenotype entries for this disease 30
Associated with 1 gene SMN1
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Disease features -
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Individuals

31 entries on 1 page. Showing entries 1 - 31.
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00116713 - PubMed: Parsons 1998 - - - United States - - 0 - - SMA-1 - SMN1 SMN1 2 1 Johan den Dunnen
00116717 - PubMed: Lefebvre 1995 - - - France - - 0 - - SMA-1 - SMN1 SMN1 2 1 Johan den Dunnen
00116719 - PubMed: Sossi 2001 - F - Italy - - 0 - - SMA-1 - SMN1 SMN1 2 1 Johan den Dunnen
00116722 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 - - - Spain - - 0 - - SMA-1 - SMN1 SMN1 2 1 Johan den Dunnen
00116731 - PubMed: Cusco 2004 - - - Spain - - 0 - - SMA-1 - SMN1 SMN1 2 1 Johan den Dunnen
00116732 - PubMed: Cusco 2004 - - - Spain - - 0 - - SMA-1 - SMN1 SMN1 2 1 Johan den Dunnen
00116742 - Clermont 1997, PubMed: Wirth 2000 - - - - - - 0 - - SMA-1 - SMN1 SMN1 2 1 Johan den Dunnen
00116743 - PubMed: Brahe 1996 - - - - - - 0 - - SMA-1 - SMN1 SMN1 2 1 Johan den Dunnen
00116747 - Clermont 1997, PubMed: Wirth 2000 - - - - - - 0 - - SMA-1 - SMN1 SMN1 2 1 Johan den Dunnen
00116748 - PubMed: Wirth 1999 2 unrelated cases - - - - - 0 - - SMA-1 - SMN1 SMN1 2 2 Johan den Dunnen
00116758 - PubMed: Martin 2002 - - - - - - 0 - - SMA-1 - SMN1 SMN1 2 1 Johan den Dunnen
00116759 - PubMed: Lefebvre 1995, PubMed: Wirth 2000 - - - - - - 0 - - SMA-1 - SMN1 SMN1 2 1 Johan den Dunnen
00116761 - PubMed: Talbot 1997 - - - United Kingdom (Great Britain) - - 0 - - SMA-1 - SMN1 SMN1 2 1 Johan den Dunnen
00116762 - PubMed: Wirth 1999 - - - - - - 0 - - SMA-1 - SMN1 SMN1 2 1 Johan den Dunnen
00116764 - PubMed: Bai 2014 - M - China - - 0 - - SMA-1 EMG nerve damage SMN1 SMN1 2 1 Johan den Dunnen
00116766 - PubMed: Bai 2014 - F - China - - 0 - - SMA-1 EMG nerve damage SMN1 SMN1 2 1 Johan den Dunnen
00116768 - PubMed: Bai 2014 - F - China - - 0 - - SMA-1 EMG nerve damage SMN1 SMN1 2 1 Johan den Dunnen
00116771 - PubMed: Bai 2014 - M - China - - 0 - - SMA-1 EMG nerve damage SMN1 SMN1 2 1 Johan den Dunnen
00116773 - PubMed: Kotani 2007, PubMed: Yamamoto 2013 - F - Japan - - 0 - - SMA-1 - SMN1 SMN1 2 1 Hisahide Nishio
00116774 - PubMed: Kotani 2007, PubMed: Yamamoto 2013 - M - Japan - - 0 - - SMA-1 - SMN1 SMN1 2 1 Hisahide Nishio
00116775 - PubMed: Yamamoto 2013 - M - Japan - >19y 0 - - SMA-1 referred for respiratory insufficiency and difficulties swallowing SMN1 SMN1 2 1 Hisahide Nishio
00116781 - - The proband has a heterozygous deletion of SMN1 inherited from his father. His single copy of SMN1 contains an inserted Alu element of the Yb8 family, inherited from his mother. M no United Arab Emirates - - 0 - - SMA-1 microcephaly, lagophthalmos, exposure keratopathy, optic disc pallor, cerebral atrophy, small optic nerves, progressive cerebral volume loss SMN1 SMN1 1 2 Kathleen Vinette
00116782 - - - F - China chinese <4m 0 - - SMA-1 - SMN1 SMN1 1 1 Fang Song
00116783 - - - F - Portugal - - 0 - - SMA-1 - SMN1 SMN1 2 1 Rosário dos Santos
00116784 - - - M no China chinese - 0 - - SMA-1 - SMN1 SMN1 1 1 Fang Song
00116786 - - - M - China chinese - 0 - - SMA-1 - SMN1 SMN1 1 1 Fang Song
00116790 - - - F no (China) - - 0 - - SMA-1 - SMN1 SMN1 1 1 Fang Song
00116791 - - - M no (China) - 20d 0 - - SMA-1 - SMN1 SMN1 1 1 Fang Song
00150116 - - - M - - - - 0 - - SMA-1 - SMN1 SMN1 1 1 Laura Alías
00168061 - - - F no Greece white 00y13m 0 - - SMA-1 - SMN1 SMN1 1 1 Kyriaki Kekou
00275685 WH1049 - - M no Serbia Serbian - 0 - - SMA-1 - SMN1 SMN1 1 1 Miloš Brkušanin
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