Disease #05167

Official abbreviation HMLR-1
Name Heimler syndrome, type 1 (HMLR-1)
OMIM ID 234580
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 11
Phenotype entries for this disease 6
Associated with 1 gene PEX1
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Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00065231 26387595-Fam1PatII3 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F - Morocco - >16y 0 - - HMLR-1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), no retinal pigmentation (-HP:0007703), no macular dystrophy (-HP:0007754) PEX1 PEX1 1 2 Jamie Zeegers
00065261 26387595-Fam1PatII4 PubMed: Ratbi 2015, Journal: Ratbi 2015 - M - Morocco - >12y 0 - - HMLR-1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), no retinal pigmentation (-HP:0007703), no macular dystrophy (-HP:0007754) PEX1 PEX1 1 1 Jamie Zeegers
00065263 26387595-Fam2Pat1 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no United States - >31y 0 - - HMLR-1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), macular dystrophy (HP:0007754) PEX1 PEX1 2 2 Jamie Zeegers
00065265 26387595-Fam2PatII2 PubMed: Ratbi 2015, Journal: Ratbi 2015 - F no United States - >29y 0 - - HMLR-1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), macular dystrophy (HP:0007754) PEX1 PEX1 2 1 Jamie Zeegers
00065270 26387595-Fam3PatII1 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Ireland - >19y 0 - - HMLR-1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597) PEX1 PEX1 2 1 Jamie Zeegers
00065272 26387595-Fam4PatII1 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - >24y 0 - - HMLR-1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754) PEX1 PEX1 2 1 Jamie Zeegers
00065273 26387595-Fam5PatII2 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - >21y 0 - - HMLR-1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), onychoschizia (HP:?), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754) PEX6 PEX6 2 2 Jamie Zeegers
00065274 26387595-Fam5PatII3 PubMed: Ratbi 2015, Journal: Ratbi 2015 - F no United Kingdom (Great Britain) - >16y 0 - - HMLR-1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), severe sensorineural hearing impairment (HP:0008625), Beau’s lines (-HP:?), onychoschizia (HP:?), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754) PEX6 PEX6 2 1 Jamie Zeegers
00065275 26387595-Fam6PatII1 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, twin sisters, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - >21y 0 - - HMLR-1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), no macular dystrophy (HP:0007754) PEX6 PEX6 2 2 Jamie Zeegers
00065276 26387595-Fam6PatII2 PubMed: Ratbi 2015, Journal: Ratbi 2015 - F no United Kingdom (Great Britain) - >21y 0 - - HMLR-1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), no macular dystrophy (HP:0007754) PEX6 PEX6 2 1 Jamie Zeegers
00072286 - - - F yes Morocco - - 0 - - HMLR-1 Heimler Syndrome patient; sensorineural hearing loss (HP:0000407), amelogenesis imperfecta (HP:0000705), nail abnormalities (HP:0001597) PEX1 PEX1 1 1 Glenda Beaman
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