Disease #02717 (MDC1A (dystrophy, muscular, congential, merosin deficient, type 1a (MDC-1A)), OMIM:607855)

Official abbreviation MDC1A
Name dystrophy, muscular, congential, merosin deficient, type 1a (MDC-1A)
OMIM ID 607855
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 29
Phenotype entries for this disease 25
Associated with 1 gene LAMA2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

29 entries on 1 page. Showing entries 1 - 29.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00303651 - Quijano-Roy et al, 2020 - F no Chile - - - - - MDC1A - LAMA2 LAMA2 2 1 Fabiana Fattori
00303652 - - - M no Chile - - - - - MDC1A - LAMA2 LAMA2 2 1 Fabiana Fattori
00303942 - - - M - Chile - - - - - MDC1A - LAMA2 LAMA2 1 2 Fabiana Fattori
00303943 - - - F ? Chile - - - - - MDC1A - LAMA2 LAMA2 1 1 Fabiana Fattori
00384562 - - - M no Russian Federation - - - - - MDC1A - LAMA2 LAMA2 2 3 Polina Chausova
00411284 - - - M no Thailand - - - - - MDC1A - - LAMA2 1 1 Ponghatai Damrongphol
00428469 212733 - - M no Germany - - - - - MDC1A Hypotonia, Elevated circulating creatine kinase concentration, Muscular dystrophy LAMA2 LAMA2 2 1 Andreas Laner
00433435 Pat1 - - M no Viet Nam Kinh >02y - yes no MDC1A Motor delay Elevated circulating creatine kinase concentration Proximal muscle weakness in lower limbs (HP:0008994) - LAMA2 2 1 Nguyen Hoang
00433436 Pat2 - - M no Viet Nam Kinh >03y - yes - MDC1A Muscle weakness (HP:0001324) Motor delay (HP:0001270) Elevated circulating creatine kinase concentration (HP:0003236) Hypotonia (HP:0001252) No-Seizure (HP:0001250) - LAMA2 1 1 Nguyen Hoang
00433437 Pat3 - - M no Viet Nam Kinh >05y - yes - MDC1A Proximal muscle weakness in upper and lower limbs (HP:0008997) Elevated circulating creatine kinase concentration (HP:0003236) Motor delay (HP:0001270) - LAMA2 1 1 Nguyen Hoang
00433438 Pat4 - - M no Viet Nam 1 - - - - MDC1A Proximal muscle weakness in upper limbs (HP:0008997) Proximal muscle weakness in lower limbs (HP:0008994) wheelchair-dependence - LAMA2 2 1 Nguyen Hoang
00433439 Pat5 - - M no Viet Nam Kinh >06y - yes - MDC1A Delayed ability to roll over (HP:0032989) wheelchair dependence - LAMA2 2 1 Nguyen Hoang
00445403 - - index case F no Argentina - - - - - MDC1A HP:0003577 Congenital onset HP:0030091 Absent muscle fiber merosin HP:0002540 Inability to walk HP:0007103 Hypointensity of cerebral white matter on MRI No Seizure - LAMA2 2 1 María Eugenia Foncuberta
00445446 - - index case F no Argentina - - - - - MDC1A HP:0003577 Congenital onset HP:0030091 Absent muscle fiber merosin HP:0002540 Inability to walk HP:0007103 Hypointensity of cerebral white matter on MRI No Seizure - LAMA2 2 1 María Eugenia Foncuberta
00445447 - - index case M no Argentina - - - - - MDC1A HP:0003577 Congenital onset HP:0002540 Inability to walk No Seizure - LAMA2 2 1 María Eugenia Foncuberta
00446365 - - index case M no Argentina - - - - - MDC1A HP:0003577 Congenital onset HP:0030091 Absent muscle fiber merosin HP:0002540 Inability to walk HP:0007103 Hypointensity of cerebral white matter on MRI No Seizure - LAMA2 1 1 María Eugenia Foncuberta
00446396 - - index case M no Argentina - - - - - MDC1A HP:0003577 Congenital onset HP:0030091 Absent muscle fiber merosin HP:0002540 Inability to walk No Seizure - LAMA2 1 1 María Eugenia Foncuberta
00446397 - - index case F no Argentina - - - - - MDC1A HP:0003577 Congenital onset HP:0002540 Inability to walk HP:0007103 Hypointensity of cerebral white matter on MRI No Seizure - LAMA2 2 1 María Eugenia Foncuberta
00446398 - - index case M no Argentina - - - - - MDC1A HP:0003577 Congenital onset HP:0002540 Inability to walk HP:0007103 Hypointensity of cerebral white matter on MRI No Seizure - LAMA2 1 1 María Eugenia Foncuberta
00446399 - - index case M no Argentina - - - - - MDC1A HP:0003577 Congenital onset HP:0030091 Absent muscle fiber merosin HP:0002540 Inability to walk HP:0007103 Hypointensity of cerebral white matter on MRI HP:0001250 Seizure - LAMA2 2 1 María Eugenia Foncuberta
00446402 - - index case F no Argentina - - - - - MDC1A HP:0003577 Congenital onset HP:0030091 Absent muscle fiber merosin HP:0002540 Inability to walk No Seizure - LAMA2 2 1 María Eugenia Foncuberta
00446403 - - index case M no Argentina - - - - - MDC1A HP:0003577 Congenital onset HP:0002540 Inability to walk No Seizure - LAMA2 2 1 María Eugenia Foncuberta
00446405 - - index case M no Argentina - - - - - MDC1A HP:0003577 Congenital onset HP:0002540 Inability to walk HP:0007103 Hypointensity of cerebral white matter on MRI No Seizure - LAMA2 2 2 María Eugenia Foncuberta
00446406 - - sibling of Individual 00446405 M no Argentina - - - - - MDC1A HP:0003577 Congenital onset HP:0002540 Inability to walk No Seizure - LAMA2 2 1 María Eugenia Foncuberta
00449567 - - index case M no Argentina - - - - - MDC1A Congenital onset (HP:0003577) Inability to walk (HP:0002540) Absent muscle fiber merosin (HP:0030091) - LAMA2 2 1 María Eugenia Foncuberta
00449569 - - index case F no Argentina - - - - - MDC1A Congenital onset (A phenotypic abnormality that is present at birth.) (HP:0003577) Inability to walk (HP:0002540) Absent muscle fiber merosin (HP:0030091) Hypointensity of cerebral white matter on MRI (HP:0007103) - LAMA2 2 1 María Eugenia Foncuberta
00452804 299822 - - M likely Iraq - - - - - MDC1A Abnormality of the nervous system, Myopathy, Multiple joint contractures, Elevated circulating creatine kinase concentration LAMA2 LAMA2 1 1 Andreas Laner
00452839 299822 - - M yes Iraq - - - - - MDC1A Abnormality of the nervous system, Myopathy, Multiple joint contractures, Elevated circulating creatine kinase concentration LAMA2 LAMA2 1 1 Andreas Laner
00466088 - - index case; 2-generation family, 1 affected, unaffected heterozygous carrier parents M no (Argentina) - - - - - MDC1A Talipes equinovarus (HP:0001762), Hamstring contractures (HP:0003089), Motor delay (HP:0001270), Highly elevated creatine kinase (HP:0030234), Abnormal brainstem MRI signal intensity (HP:0012747), Macroglossia (HP:0000158) - LAMA2 1 1 María Eugenia Foncuberta
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.