Disease #00499 (SMA1 (atrophy, muscular, spinal, type 1 (SMA-1, Werdnig-Hoffman disease, severe infantile acute)), OMIM:253300)

Official abbreviation SMA1
Name atrophy, muscular, spinal, type 1 (SMA-1, Werdnig-Hoffman disease, severe infantile acute)
OMIM ID 253300
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 34
Phenotype entries for this disease 33
Associated with 1 gene SMN1
Associated tissues -
Disease features -
Remarks -
Date created 2014-08-14 20:55:29 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

34 entries on 1 page. Showing entries 1 - 34.
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00116713 - PubMed: Parsons 1998 - - - United States - - - - - SMA1 - SMN1 SMN1 2 1 Johan den Dunnen
00116717 - PubMed: Lefebvre 1995 - - - France - - - - - SMA1 - SMN1 SMN1 2 1 Johan den Dunnen
00116719 - PubMed: Sossi 2001 - F - Italy - - - - - SMA1 - SMN1 SMN1 2 1 Johan den Dunnen
00116722 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 - - - Spain - - - - - SMA1 - SMN1 SMN1 2 1 Johan den Dunnen
00116731 - PubMed: Cusco 2004 - - - Spain - - - - - SMA1 - SMN1 SMN1 2 1 Johan den Dunnen
00116732 - PubMed: Cusco 2004 - - - Spain - - - - - SMA1 - SMN1 SMN1 2 1 Johan den Dunnen
00116742 - Clermont 1997, PubMed: Wirth 2000 - - - - - - - - - SMA1 - SMN1 SMN1 2 1 Johan den Dunnen
00116743 - PubMed: Brahe 1996 - - - - - - - - - SMA1 - SMN1 SMN1 2 1 Johan den Dunnen
00116747 - Clermont 1997, PubMed: Wirth 2000 - - - - - - - - - SMA1 - SMN1 SMN1 2 1 Johan den Dunnen
00116748 - PubMed: Wirth 1999 2 unrelated cases - - - - - - - - SMA1 - SMN1 SMN1 2 2 Johan den Dunnen
00116758 - PubMed: Martin 2002 - - - - - - - - - SMA1 - SMN1 SMN1 2 1 Johan den Dunnen
00116759 - PubMed: Lefebvre 1995, PubMed: Wirth 2000 - - - - - - - - - SMA1 - SMN1 SMN1 2 1 Johan den Dunnen
00116761 - PubMed: Talbot 1997 - - - United Kingdom (Great Britain) - - - - - SMA1 - SMN1 SMN1 2 1 Johan den Dunnen
00116762 - PubMed: Wirth 1999 - - - - - - - - - SMA1 - SMN1 SMN1 2 1 Johan den Dunnen
00116764 - PubMed: Bai 2014 - M - China - - - - - SMA1 EMG nerve damage SMN1 SMN1 2 1 Johan den Dunnen
00116766 - PubMed: Bai 2014 - F - China - - - - - SMA1 EMG nerve damage SMN1 SMN1 2 1 Johan den Dunnen
00116768 - PubMed: Bai 2014 - F - China - - - - - SMA1 EMG nerve damage SMN1 SMN1 2 1 Johan den Dunnen
00116771 - PubMed: Bai 2014 - M - China - - - - - SMA1 EMG nerve damage SMN1 SMN1 2 1 Johan den Dunnen
00116773 - PubMed: Kotani 2007, PubMed: Yamamoto 2013 - F - Japan - - - - - SMA1 - SMN1 SMN1 2 1 Hisahide Nishio
00116774 - PubMed: Kotani 2007, PubMed: Yamamoto 2013 - M - Japan - - - - - SMA1 - SMN1 SMN1 2 1 Hisahide Nishio
00116775 - PubMed: Yamamoto 2013 - M - Japan - >19y - - - SMA1 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 - - - - - SMA1 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 - - - SMA1 - SMN1 SMN1 1 1 Fang Song
00116783 - - - F - Portugal - - - - - SMA1 - SMN1 SMN1 2 1 Rosário dos Santos
00116784 - - - M no China chinese - - - - SMA1 - SMN1 SMN1 1 1 Fang Song
00116786 - - - M - China chinese - - - - SMA1 - SMN1 SMN1 1 1 Fang Song
00116790 - - - F no (China) - - - - - SMA1 - SMN1 SMN1 1 1 Fang Song
00116791 - - - M no (China) - 20d - - - SMA1 - SMN1 SMN1 1 1 Fang Song
00150116 - - - M - - - - - - - SMA1 - SMN1 SMN1 1 1 Laura Alías
00168061 - - - F no Greece white 00y13m - - - cancer, lung, SMA1 - SMN1 SMN1 1 1 Kyriaki Kekou
00275685 WH1049 - - M no Serbia Serbian - - - - SMA1 - SMN1 SMN1 1 1 Miloš Brkušanin
00305907 23 - - F - China - - - - - SMA1 - SMN1 SMN1 1 1 Sha Hong
00306199 97 - - M - China - - - - - SMA1 - SMN1 - - 1 Sha Hong
00417844 206520 - - F no Italy - - - - - SMA1 Generalized hypotonia, Respiratory insufficiency, Increased variability in muscle fiber diameter, Abnormal muscle fiber protein expression SMN1 SMN1 2 1 Andreas Laner
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