LMBR1, limb development membrane protein 1, 64327

N. diseases: 98; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265559
Disease: Acheiropodia
Acheiropodia 		0.820 GeneticVariation disease BEFREE These include a patient with hypoplastic phalanges and absent hallux bilaterally with de novo deletion of 11.9 Mb on 7p21.1-22.1 spanning 63 genes including RAC1, another patient with severe Holt-Oram syndrome and a large de novo deletion 2.2 Mb on 12q24.13-24.21 spanning 20 genes including TBX3 and TBX5, and a third patient with acheiropodia who had a nullizygous deletion of 102 kb on 7q36.3 spanning LMBR1. 26749485 2016
CUI: C0265559
Disease: Acheiropodia
Acheiropodia 		0.820 GermlineCausalMutation disease ORPHANET Given the nature of the acheiropodia phenotype, it appears likely that the Lmbr1 gene plays an important role in limb development. 11090342 2001
CUI: C0265559
Disease: Acheiropodia
Acheiropodia 		0.820 Biomarker disease GENOMICS_ENGLAND Given the nature of the acheiropodia phenotype, it appears likely that the Lmbr1 gene plays an important role in limb development. 11090342 2001
CUI: C0265559
Disease: Acheiropodia
Acheiropodia 		0.820 GeneticVariation disease BEFREE Analysis of C7orf2, the human orthologue of the mouse Lmbr1 gene, identified a deletion in all five families, thus identifying a common acheiropodia mutation. 11090342 2001
CUI: C0265559
Disease: Acheiropodia
Acheiropodia 		0.820 Biomarker disease MGD Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. 11606546 2001
CUI: C0265559
Disease: Acheiropodia
Acheiropodia 		0.820 Biomarker disease CTD_human
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		0.730 GeneticVariation disease BEFREE Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). 28035386 2017
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		0.730 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2015 revision. 26394607 2015
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		0.730 GermlineCausalMutation disease ORPHANET A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb. 19847792 2010
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		0.730 GermlineCausalMutation disease ORPHANET A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. 18178630 2008
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		0.730 GeneticVariation disease BEFREE A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family. 17300748 2007
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		0.730 Biomarker disease GENOMICS_ENGLAND Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. 11090342 2001
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		0.730 GeneticVariation disease BEFREE A literature survey showed that there have been several families where THPTTS occurred with TPTPS or Haas-type syndactyly (and/or preaxial polydactyly type 2, PPD2). 10869115 2000
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		0.730 CausalMutation disease CLINVAR
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		0.730 Biomarker disease CTD_human
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME 		0.700 GermlineCausalMutation disease ORPHANET Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. 24456159 2014
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME 		0.700 Biomarker disease GENOMICS_ENGLAND Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. 11090342 2001
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME 		0.700 Biomarker disease HPO
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME 		0.700 Biomarker disease CTD_human
CUI: C1861355
Disease: Syndactyly, Type IV
Syndactyly, Type IV 		0.610 GermlineCausalMutation disease ORPHANET Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. 24456159 2014
CUI: C1861355
Disease: Syndactyly, Type IV
Syndactyly, Type IV 		0.610 Biomarker disease GENOMICS_ENGLAND Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. 11090342 2001
CUI: C1861355
Disease: Syndactyly, Type IV
Syndactyly, Type IV 		0.610 GeneticVariation disease BEFREE These findings support our conclusion that TPTPS, PPD2 (and/or PPD3), and Haas-type syndactyly are a single genetic en-tity (THPTTS). 10869115 2000
CUI: C1861355
Disease: Syndactyly, Type IV
Syndactyly, Type IV 		0.610 Biomarker disease CTD_human
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.440 Biomarker disease BEFREE Thus, we confirmed that LMBR1 was the causative gene of polydactyly in the Beijing fatty chicken by using GWAS with restriction-site associated DNA based markers and resequencing. 28489934 2017
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.440 AlteredExpression disease BEFREE Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). 28035386 2017