Disease #01448

Official abbreviation BTHLM-1
Name myopathy, Bethlem, type 1 (BTHLM-1)
OMIM ID 158810
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 168
Phenotype entries for this disease 168
Associated with 3 genes COL6A1, COL6A2, COL6A3
Associated tissues -
Disease features -
Remarks -


Individuals

168 entries on 2 pages. Showing entries 1 - 100.
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00102743 MYO-SEQ Pat1 MYO-SEQ project, UK - M no Germany - - 0 - - BTHLM-1 - - COL6A3 2 1 Alison Blain
00103084 MYO-SEQ Pat2 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - - COL6A2, COL6A3 3 1 Alison Blain
00108709 MYO-SEQ Pat10 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 1 Alison Blain
00108710 MYO-SEQ Pat11 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 1 Alison Blain
00108711 MYO-SEQ Pat12 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A1, COL6A2 COL6A1, COL6A2 3 1 Alison Blain
00108712 MYO-SEQ Pat13 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A2 COL6A2 3 1 Alison Blain
00108713 MYO-SEQ Pat14 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A2 COL6A2 2 1 Alison Blain
00108714 MYO-SEQ Pat15 MYO-SEQ project, UK - F no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 1 Alison Blain
00108715 MYO-SEQ Pat16 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 1 Alison Blain
00108716 MYO-SEQ Pat17 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A3 COL6A3 1 1 Alison Blain
00108717 MYO-SEQ Pat18 MYO-SEQ project, UK - F ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Alison Blain
00108718 MYO-SEQ Pat19 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A3 COL6A3 1 1 Alison Blain
00108720 MYO-SEQ Pat20 MYO-SEQ project, UK - F ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A3 COL6A3 2 1 Alison Blain
00108721 MYO-SEQ Pat21 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 1 Alison Blain
00108722 MYO-SEQ Pat22 MYO-SEQ project, UK - - no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A3 COL6A3 1 1 Alison Blain
00108723 MYO-SEQ Pat23 MYO-SEQ project, UK - F no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Alison Blain
00108724 MYO-SEQ Pat24 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 1 Alison Blain
00108725 MYO-SEQ Pat25 MYO-SEQ project, UK - F yes United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A3 COL6A3 1 1 Alison Blain
00108726 MYO-SEQ Pat26 MYO-SEQ project, UK - F no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Alison Blain
00108727 MYO-SEQ Pat27 MYO-SEQ project, UK - F ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 1 Alison Blain
00108728 MYO-SEQ Pat28 MYO-SEQ project, UK 2-generation family, affected mother/daughter F no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 2 Alison Blain
00108729 MYO-SEQ Pat29 MYO-SEQ project, UK - F yes United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 2 Alison Blain
00108730 MYO-SEQ Pat3 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 1 Alison Blain
00108731 MYO-SEQ Pat30 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A2 COL6A2 2 1 Alison Blain
00108732 MYO-SEQ Pat31 MYO-SEQ project, UK - F ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Alison Blain
00108733 MYO-SEQ Pat32 MYO-SEQ project, UK - F ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Alison Blain
00108734 MYO-SEQ Pat33 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A3 COL6A3 1 1 Alison Blain
00108735 MYO-SEQ Pat34 MYO-SEQ project, UK - F no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A3 COL6A3 1 1 Alison Blain
00108737 MYO-SEQ Pat36 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Alison Blain
00108738 MYO-SEQ Pat4 MYO-SEQ project, UK - F no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A3 COL6A3 1 1 Alison Blain
00108739 MYO-SEQ Pat5 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Alison Blain
00108740 MYO-SEQ Pat6 MYO-SEQ project, UK 2-generation family, affected father and 2 sons M ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 3 Alison Blain
00108741 MYO-SEQ Pat7 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A2 COL6A2 2 1 Alison Blain
00108742 MYO-SEQ Pat8 MYO-SEQ project, UK - M yes United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A3 COL6A3 1 1 Alison Blain
00108743 MYO-SEQ Pat9 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 1 Alison Blain
00108745 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Johan den Dunnen
00108747 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Johan den Dunnen
00108748 P13 PubMed: Lucioli 2005 - - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Anne Lampe
00108749 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Johan den Dunnen
00108750 ? PubMed: LamandÈ 1999 - M - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Johan den Dunnen
00108751 ? PubMed: Pan 2003 - M - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Johan den Dunnen
00108752 P10 PubMed: Lucioli 2005 unrelated patients - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Anne Lampe
00108753 ? PubMed: Pepe 1999 3 generation family, affected mother and grandfather - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 3 Johan den Dunnen
00108755 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - COL6A1, COL6A3 COL6A1, COL6A3 2 1 Johan den Dunnen
00108758 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 mild COL6A1 COL6A1 1 3 Johan den Dunnen
00108760 ? PubMed: Vanegas 2002 4 generation family - - Italy - - 0 - - BTHLM-1 mild COL6A1 COL6A1 1 1 Johan den Dunnen
00108761 P1 PubMed: Lucioli 2005 - - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Anne Lampe
00108762 P6 PubMed: Lucioli 2005 3 generation family - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Anne Lampe
00108763 P5 PubMed: Lucioli 2005 - - - - - - 0 - - BTHLM-1 prominent contractures COL6A1 COL6A1 1 1 Anne Lampe
00108765 B PubMed: Pepe 2005 - - - - - - 0 - - BTHLM-1 heterozygous, change in one individual COL6A1 COL6A1 1 1 Anne Lampe
00108767 P16 PubMed: Lucioli 2005 - - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Anne Lampe
00108768 Pat28, Pat29 PubMed: Lampe 2005 first degree relatives, no confirmatory data - - - - - 0 - - BTHLM-1 - COL6A1, COL6A3 COL6A1, COL6A3 2 1 Johan den Dunnen
00108769 P12 PubMed: Lucioli 2005 - - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Anne Lampe
00108774 Pat43 PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 severe COL6A1, COL6A3 COL6A1, COL6A3 2 1 Johan den Dunnen
00108776 P14 PubMed: Lucioli 2005 - - - - - - 0 - - BTHLM-1 severe COL6A1 COL6A1 1 1 Anne Lampe
00108777 ? PubMed: Jobsis 1996 3 generation family - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Johan den Dunnen
00108778 ? PubMed: LamandÈ 1998 large family, 9 affecteds - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 9 Johan den Dunnen
00108785 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 severe COL6A1 COL6A1 1 1 Johan den Dunnen
00108789 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 change in 1/78 individuals COL6A2 COL6A2 1 1 Johan den Dunnen
00108791 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 1 Johan den Dunnen
00108792 ? PubMed: Lampe 2005 3 first degree relatives - - - - - 0 - - BTHLM-1 1/3 severe COL6A2 COL6A2 1 3 Johan den Dunnen
00108798 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 1 Johan den Dunnen
00108800 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 1 Johan den Dunnen
00108802 - PubMed: Jobsis 1996 - - - - - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 1 Johan den Dunnen
00108807 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - COL6A3 COL6A3 1 1 Johan den Dunnen
00108809 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - COL6A3 COL6A3 1 1 Johan den Dunnen
00108810 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - COL6A3 COL6A3 1 1 Johan den Dunnen
00108811 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - COL6A3 COL6A3 1 1 Johan den Dunnen
00108812 - PubMed: Pan 1998, OMIM:var0001 large 3 generation family - - United States - - 0 - - BTHLM-1 - COL6A3 COL6A3 1 1 Johan den Dunnen
00108813 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 severe COL6A3 COL6A3 1 1 Johan den Dunnen
00108815 - PubMed: Pepe 1999 2 generation family - - - - - 0 - - BTHLM-1 - COL6A3 COL6A3 1 1 Johan den Dunnen
00108818 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 severe COL6A3 COL6A3 1 1 Johan den Dunnen
00108822 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - COL6A3 COL6A3 1 1 Johan den Dunnen
00108823 ? PubMed: Baker 2007 - M - Australia - - 0 - - BTHLM-1 - COL6A1, COL6A2, COL6A3 COL6A1, COL6A2, COL6A3 28 1 Johan den Dunnen
00108824 ? PubMed: Baker 2007 - M - United States - - 0 - - BTHLM-1 CPK normal COL6A1, COL6A2, COL6A3 COL6A1, COL6A2, COL6A3 34 1 Johan den Dunnen
00108825 ? PubMed: Baker 2007 - M - United States - - 0 - - BTHLM-1 CPK increased COL6A1, COL6A2, COL6A3 COL6A1, COL6A2, COL6A3 38 1 Johan den Dunnen
00108826 ? PubMed: Baker 2007 - F - Australia - - 0 - - BTHLM-1 CPK increased COL6A1, COL6A2, COL6A3 COL6A1, COL6A2, COL6A3 27 1 Johan den Dunnen
00108827 ? PubMed: Baker 2007 - M - New Zealand - - 0 - - BTHLM-1 CPK normal COL6A1, COL6A2, COL6A3 COL6A1, COL6A2, COL6A3 31 1 Johan den Dunnen
00108828 ? PubMed: Baker 2007 - M - Australia - - 0 - - BTHLM-1 - COL6A1, COL6A2, COL6A3 COL6A1, COL6A2, COL6A3 30 1 Johan den Dunnen
00108829 ? PubMed: Baker 2007 - M - United Kingdom (Great Britain) - - 0 - - BTHLM-1 CPK normal COL6A1, COL6A2, COL6A3 COL6A1, COL6A2, COL6A3 26 1 Johan den Dunnen
00108830 ? PubMed: Baker 2007 - M - Australia - - 0 - - BTHLM-1 - COL6A1, COL6A2, COL6A3 COL6A1, COL6A2, COL6A3 31 1 Johan den Dunnen
00108832 ? PubMed: Baker 2007 - M - Belgium - - 0 - - BTHLM-1 CPK normal COL6A1 COL6A1 1 1 Johan den Dunnen
00108833 ? PubMed: Lucioli 2005 unrelated patients - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Anne Lampe
00108834 ? PubMed: Lucioli 2005 unrelated patients - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Anne Lampe
00108835 P7 PubMed: Lucioli 2005 unrelated patients - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Anne Lampe
00108836 P8 PubMed: Lucioli 2005 unrelated patients - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Anne Lampe
00108837 P9 PubMed: Lucioli 2005 unrelated patients - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Anne Lampe
00108838 ? PubMed: Baker 2007 - M - United States - - 0 - - BTHLM-1 CPK increased COL6A1 COL6A1 1 1 Johan den Dunnen
00108839 ? PubMed: Baker 2007 - F - Belgium - - 0 - - BTHLM-1 CPK normal COL6A1 COL6A1 1 1 Johan den Dunnen
00108840 ? PubMed: Jobsis 1996 - - - - - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 1 Johan den Dunnen
00108844 P2 PubMed: Lucioli 2005 - - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Anne Lampe
00108845 P3 PubMed: Lucioli 2005 - - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Anne Lampe
00108846 P4 PubMed: Lucioli 2005 - - - - - - 0 - - BTHLM-1 prominent contractures COL6A1 COL6A1 1 1 Anne Lampe
00108847 ? PubMed: Lampe 2005 2 affecteds - - - - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 2 Johan den Dunnen
00108850 ? - - M - (United States) - - 0 - - BTHLM-1 - COL6A2 COL6A2 1 1 Tom Winder
00108853 ? - - F - (United States) - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Tom Winder
00108854 ? - - M - United States - - 0 - - BTHLM-1 - COL6A1 COL6A1 2 1 Tom Winder
00108855 ? - - M - Korea, South (Republic) - - 0 - - BTHLM-1 CPK 520 COL6A1 COL6A1 1 1 Tom Winder
00108858 ? - - - - (United States) - - 0 - - BTHLM-1 - COL6A1 COL6A1 1 1 Tom Winder
00108861 ? - - - - (United States) Asian Indian - 0 - - BTHLM-1 weakness, hypotonia; CPK 83 COL6A1 COL6A1 1 1 Tom Winder
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