Disease #00501 (SMA3 (atrophy, muscular, spinal, type III (SMA-3, juvenile, Wohlfart-Kugelberg-Welander disease)), OMIM:253400)

Official abbreviation SMA3
Name atrophy, muscular, spinal, type III (SMA-3, juvenile, Wohlfart-Kugelberg-Welander disease)
OMIM ID 253400
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 25
Phenotype entries for this disease 24
Associated with 2 genes SMN1, SMN2
Associated tissues -
Disease features -
Remarks -
Date created 2014-08-14 20:57:26 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

25 entries on 1 page. Showing entries 1 - 25.
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00116708 - PubMed: Parsons 1998 2 unrelated patients - - United States - - - - - SMA3 - SMN1 SMN1 3 2 Johan den Dunnen
00116709 - - - F no (China) chinese - - - - SMA3 - SMN1 SMN1 1 1 Fang Song
00116712 - PubMed: Gambardella 1998 del NAIP exon 5 M - Italy - - - - - SMA3 - SMN1 SMN1 2 1 Johan den Dunnen
00116715 - PubMed: Hahnen 1997 - - - Germany - - - - - SMA3 - SMN1 SMN1 2 2 Johan den Dunnen
00116716 - PubMed: Hahnen 1997 - - - Australia - - - - - SMA3 - SMN1 SMN1 2 1 Johan den Dunnen
00116718 - PubMed: Lorson 1999 - - - United States - - - - - SMA3 - SMN1 SMN1 2 1 Johan den Dunnen
00116721 - PubMed: Sossi 2001 - F - Italy - - - - - SMA3 WB smaller SMN1 SMN1 SMN1 2 1 Johan den Dunnen
00116724 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 8 patients (2 early onset) - - Spain - - - - - SMA3 - SMN1 SMN1 2 8 Johan den Dunnen
00116727 - PubMed: Sun 2005 - - - Germany - - - - - SMA3 - SMN1 SMN1 2 1 Johan den Dunnen
00116728 - PubMed: Sun 2005 - - - Germany - - - - - SMA3 - SMN1 SMN1 2 1 Johan den Dunnen
00116730 - PubMed: Sun 2005 - - - Germany - - - - - SMA3 - SMN1 SMN1 2 1 Johan den Dunnen
00116738 - PubMed: Wirth 1999 - - - - - - - - - SMA3 - SMN1 SMN1 2 1 Johan den Dunnen
00116739 - PubMed: Wirth 1999 - - - - - - - - - SMA3 - SMN1 SMN1 2 1 Johan den Dunnen
00116750 - PubMed: Rochette 1997 - - - - - - - - - SMA3 - SMN1 SMN1 2 1 Johan den Dunnen
00116751 - PubMed: Martin 2002 - - - - - - - - - SMA3 - SMN1 SMN1 2 1 Johan den Dunnen
00116753 - PubMed: McAndrew 1997 - - - - - - - - - SMA3 - SMN1 SMN1 2 1 Johan den Dunnen
00116757 - PubMed: Skordis 2001 - - - - - - - - - SMA3 - SMN1 SMN1 2 1 Johan den Dunnen
00116763 - PubMed: Bai 2014 - M - China - - - - - SMA3 - SMN1 SMN1 2 1 Johan den Dunnen
00116772 - PubMed: Yamamoto 2013 - M no Japan Japanese - - - - SMA3 11y-pain/heaviness in legs during exercise; later developed symptoms including waddling gait, muscle weakness and atrophy in quadriceps, attenuated patellar tendon reflex; able to walk SMN1 SMN1 2 1 Hisahide Nishio
00116777 - PubMed: Yamamoto 2013 - F - Japan - >19y - - - SMA3 13y-muscle weakness during swimming exercise; gradually lost running ability, could no longer run as fast as classmates in high school days SMN1 SMN1 2 1 Hisahide Nishio
00116778 - - - M - China chinese - - - - SMA3 - SMN1 SMN1 1 1 Fang Song
00116779 - - - F - China Chinese - - - - SMA3 - SMN1 SMN1 1 1 Fang Song
00150121 - - - M yes - - - - - - SMA3 - SMN1 - - 1 Laura Alías
00168073 - - - F no Greece - - - - - SMA3 - SMN1 SMN1 1 2 Kyriaki Kekou
00168074 - - - M no Greece - - - - - SMA3 8y deterioration in specific muscle groups SMN1 SMN1 1 1 Kyriaki Kekou
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