Disease #02496 (DSMA-1 (atrophy, muscular, spinal, distal, type 1 (DSMA-1, alias SMARD-1)), OMIM:604320)

Official abbreviation DSMA-1
Name atrophy, muscular, spinal, distal, type 1 (DSMA-1, alias SMARD-1)
OMIM ID 604320
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 68
Phenotype entries for this disease 69
Associated with 1 gene IGHMBP2
Associated tissues -
Disease features -
Remarks -


Individuals

68 entries on 1 page. Showing entries 1 - 68.
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00029722 - - - M - - - - 0 - - DSMA-1 - - - 0 1 Claus Lenski
00080845 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - DSMA-1 Neuronopathy, distal hereditary motor, type VI (OMIM:604320) IGHMBP2 IGHMBP2 1 1 Daniel Trujillano
00081008 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - DSMA-1 Neuronopathy, distal hereditary motor, type VI (OMIM:604320) IGHMBP2 IGHMBP2 1 1 Daniel Trujillano
00210418 F4; 18; 7 PubMed: Grohmann, 2001 affected sibling F no Germany - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 3 2 Jorge Oliveira
00210419 F5; 19 PubMed: Grohmann, 2001 - M yes Lebanon - - 0 - - DSMA-1 Bilateral equinovarus foot IGHMBP2 IGHMBP2 4 1 Jorge Oliveira
00210420 F6; 25; 8 PubMed: Grohmann, 2001 - F yes Italy - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 3 1 Jorge Oliveira
00210421 F3; 7; 6 PubMed: Grohmann, 2001 - F yes Turkey - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 3 1 Jorge Oliveira
00210422 F2; 10 PubMed: Grohmann, 2001 Four affected siblings F yes Lebanon - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 5 5 Jorge Oliveira
00210423 F1; 4; 1 PubMed: Grohmann, 2001; PubMed: Grohmann, 2003; PubMed: Diers, 2005 - M no Italy - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210424 1 PubMed: Grohmann, 2003 - M - Australia - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210425 2 PubMed: Grohmann, 2003 - F - Israel - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210426 3 PubMed: Grohmann, 2003 - M - Bangladesh - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210427 5; 2 PubMed: Grohmann, 2003; PubMed: Diers, 2005 - F - Ghana - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210428 6 PubMed: Grohmann, 2003 - M - Ghana - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210429 8 PubMed: Grohmann, 2003 - M - Austria - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210430 9 PubMed: Grohmann, 2003 - M - Germany - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210431 11 PubMed: Grohmann, 2003 - M - Germany - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210432 12 PubMed: Grohmann, 2003 - F - Australia - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210433 13 PubMed: Grohmann, 2003 - M - Australia - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210434 14 PubMed: Grohmann, 2003 - F - Germany - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210435 15 PubMed: Grohmann, 2003 - F - Spain - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210436 16 PubMed: Grohmann, 2003 - M - Germany - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210437 17 PubMed: Grohmann, 2003 - M - United Kingdom (Great Britain) - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210438 20 PubMed: Grohmann, 2003 - F - Germany - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210439 21 PubMed: Grohmann, 2003 - F - Hungary - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210440 22; P2 PubMed: Grohmann, 2003; PubMed: Guenther, 2004 - F no Belgium - >9y 0 - - DSMA-1 - IGHMBP2 IGHMBP2 1 1 Jorge Oliveira
00210441 23 PubMed: Grohmann, 2003 - M - Morocco - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210442 24 PubMed: Grohmann, 2003 - M - Turkey - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210443 26 PubMed: Grohmann, 2003 - F - Germany - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210444 27 PubMed: Grohmann, 2003 - M - - African - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210445 28 PubMed: Grohmann, 2003 - F - Germany - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210446 29 PubMed: Grohmann, 2003 - M - Australia - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210447 1 PubMed: Pitt, 2003 - M - - - 4m 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210448 2 PubMed: Pitt, 2003 - - - - - 3m 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210449 6 PubMed: Pitt, 2003 - - - - - 3m 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210450 7 PubMed: Pitt, 2003 - - - Bahrain - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210451 8 PubMed: Pitt, 2003 - - - - - 6m15d 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210452 9 PubMed: Pitt, 2003 - - - - - 9m15d 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210453 12 PubMed: Pitt, 2003 - - - - - 3m 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210454 13 PubMed: Pitt, 2003 affected sister - - - - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210455 P5 PubMed: Maystadt, 2004 - - - - - 3m 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210456 P6 PubMed: Maystadt, 2004 - - - - - 5m15d 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210457 P11 PubMed: Maystadt, 2004 - - - - - 13m 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210458 P27 PubMed: Maystadt, 2004 - - - - - 6m 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210459 P28 PubMed: Maystadt, 2004 - - - - - >2y 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210460 623SMA - - F yes Portugal - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 17 1 Jorge Oliveira
00210461 P1 PubMed: Guenther, 2004 - M no Italy - >6y 0 - - DSMA-1 5y-FVC 62%; walk-17m; no walk-3y IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210462 1 PubMed: Guenther, 2007 - - - United Kingdom (Great Britain) - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210463 2 PubMed: Guenther, 2007 - - - Italy - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210464 3 PubMed: Guenther, 2007 - - - United Kingdom (Great Britain) - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210465 4 PubMed: Guenther, 2007 - - - Viet Nam - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210466 5 PubMed: Guenther, 2007 - - - South Africa - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210467 6 PubMed: Guenther, 2007 - - - United States - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210468 7 PubMed: Guenther, 2007 - - - United States - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210469 8 PubMed: Guenther, 2007 - - - Sweden - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210470 9 PubMed: Guenther, 2007 - - - Italy - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210471 10 PubMed: Guenther, 2007 - - - Croatia (Hrvatska) - - 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210472 Case 1 PubMed: Giannini, 2006 - M no (Italy) - 5m 0 - - DSMA-1 neonatal onset IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210473 case 2 PubMed: Giannini, 2006 - M - (Italy) - >20m 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210474 patient PubMed: Wong, 2006 - M no China - >3y 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210475 case 1 PubMed: Joseph, 2009 affected brother (patient 22939) F - (United Kingdom (Great Britain)) - >13y 0 - - DSMA-1 Atypical SMARD1 presentation; walk-27m IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210476 case 2 PubMed: Joseph, 2009 affected sister (patient 22938) M - (United Kingdom (Great Britain)) - 6m 0 - - DSMA-1 tongue fasciculation IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210477 patient PubMed: Fanos, 2010 clinically affected sister F - Italy Sardinian 6m 0 - - DSMA-1 Giant cell hepatitis; intrauterine growth retardation IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210478 patient PubMed: Pierson, 2011 - M no (United States) - >20y 0 - - DSMA-1 Mild facial diplegia; hypertension; cholelithiasis; excessive sweating; no motor ability IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210479 patient PubMed: AlSaman, 2010 - F yes Saudi Arabia - 2y 0 - - DSMA-1 Mild scoliosis and facial weakness, and minimal tongue fasciculation; bilateral equinovarus feet; excessive sweating; sit-7m IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210480 patient 1 PubMed: Guenther, 2009 - F no (Germany) white - 0 - - DSMA-1 infantile form, bilateral varus foot (at birth); 11y-FVC 47%; sit-12m,no walk-4y, no sit-10y IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00210481 patient 2 PubMed: Guenther, 2009 - M no (Germany) white >23m 0 - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Jorge Oliveira
00306144 80 - - M - China - - - - - DSMA-1 - IGHMBP2 IGHMBP2 2 1 Sha Hong
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