Disease #01945 (UCMD-1 (dystrophy, muscular, congenital, Ullrich, type 1 (UCMD-1)), OMIM:254090)

Official abbreviation UCMD-1
Name dystrophy, muscular, congenital, Ullrich, type 1 (UCMD-1)
OMIM ID 254090
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 3 genes COL6A1, COL6A2, COL6A3
Associated tissues -
Disease features -
Remarks -


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00080859 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - UCMD-1 Ullrich congenital muscular dystrophy 1 (OMIM:254090) COL6A3 COL6A3 1 1 Daniel Trujillano
00080893 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - UCMD-1 Ullrich congenital muscular dystrophy 1 (OMIM:254090) COL6A2 COL6A2 1 1 Daniel Trujillano
00081094 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - UCMD-1 Ullrich congenital muscular dystrophy 1 (OMIM:254090) COL6A2 COL6A2 1 1 Daniel Trujillano
00109416 F2P Butterfield, submitted - M - ? (unknown) - - 0 - - UCMD-1 progressive weakness, distal finger hyperlaxity, contractures of elbows, knees/ankles, mild scoliosis, mild keratosis pilaris; wheelchair-bound teens; FVC 0.31 COL6A1 COL6A1 1 1 Sandra Donkervoort
00109417 F3P - - M - - - - 0 - - UCMD-1 delayed motor mile stones, proximal weakness, distal finger hyperlaxity with coexisting and long finger flexor contractures: limited shoulder abduction; rigid spine, keratosis pilaris, keloid scarring; FVC 0.83 COL6A1 COL6A1 1 1 Sandra Donkervoort
00109418 F4P - - M - - - - 0 - - UCMD-1 congenital arthrogryposis, bilateral hip dislocation; severe proximal weakness, distal finger hyperlaxity with long finger contractures; rigid spine; FVC 0.30 COL6A3 COL6A3 1 1 Sandra Donkervoort
00230584 Proband_01 - 2-generation family, 2 affecteds (2F), unaffected carrier parents and elder sibling F yes Sri Lanka Asian 11y 0 yes none UCMD-1 Motor delay (HP:0001270); Proximal muscle weakness (HP:0003701); Joint laxity (HP:0001388); Generalised hypotonia (HP:0001290); Hyperextensibility of wrists (HP:0005072); Elevated serum creatine kinase (HP:0003236); EMG:myopathic abnormalities (HP:0003458); Talipes equinovarus (HP:0001762); no follicular hyperkeratosis (-HP:0007502); no flexion contracture (-HP:0001371) COL16A1 COL6A1 1 2 Nirmala Sirisena
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