Combined osteogenesis imperfecta and Ehlers-Danlos syndrome [DS:H02724]
Description
Osteogenesis imperfecta (OI) is characterized by an inherited bone fragility mainly caused by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in individuals with OI. Mutations in the other genes have been recently identified.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00506 Osteogenesis imperfecta
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06505 WNT signaling
H00506 Osteogenesis imperfecta
Cellular process
nt06539 Cytoskeleton in muscle cells
H00506 Osteogenesis imperfecta
Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C
Title
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bachinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B
Title
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH
Title
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
Barnes AM, Cabral WA, Weis M, Makareeva E, Mertz EL, Leikin S, Eyre D, Trujillo C, Marini JC
Title
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmuller J, Nurnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C
Title
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Osteoporosis, childhood- or juvenile-onset, with developmental delay (OPDD)
Description
Osteoporosis is a common disease characterised by a generalised reduction in bone mineral density (BMD), microarchitectural deterioration of bone tissue and an increased risk of fracture. Since BMD values fall progressively with age, the prevalence of osteoporosis increases with age. It has been estimated that approximately 50% of all women will have osteoporosis by the age of 80. Studies in twins and families indicate that genetic factors play an important role in the regulation of BMD and other determinants of osteoporotic fracture risk. Osteoporosis is a polygenic disorder, determined by the effects of several genes, each with relatively modest effects. Population-based studies and case-control studies have similarly identified polymorphisms in several candidate genes that have been associated with bone mass or osteoporotic fracture, including the vitamin D receptor, oestrogen receptor and collagen gene. Bisphosphonates, and in some patients denosumab, are first-line drugs for osteoporosis.
Category
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
15 Diseases of the musculoskeletal system or connective tissue
Osteopathies or chondropathies
FB83 Low bone mass disorders
H01593 Osteoporosis
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06505 WNT signaling
H01593 Osteoporosis
Cellular process
nt06539 Cytoskeleton in muscle cells
H01593 Osteoporosis
Omasu F, Ezura Y, Kajita M, Ishida R, Kodaira M, Yoshida H, Suzuki T, Hosoi T, Inoue S, Shiraki M, Orimo H, Emi M
Title
Association of genetic variation of the RIL gene, encoding a PDZ-LIM domain protein and localized in 5q31.1, with low bone mineral density in adult Japanese women.
Spotila LD, Constantinou CD, Sereda L, Ganguly A, Riggs BL, Prockop DJ
Title
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.
Yang TL, Chen XD, Guo Y, Lei SF, Wang JT, Zhou Q, Pan F, Chen Y, Zhang ZX, Dong SS, Xu XH, Yan H, Liu X, Qiu C, Zhu XZ, Chen T, Li M, Zhang H, Zhang L, Drees BM, Hamilton JJ, Papasian CJ, Recker RR, Song XP, Cheng J, Deng HW
Title
Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis.
Styrkarsdottir U, Thorleifsson G, Sulem P, Gudbjartsson DF, Sigurdsson A, Jonasdottir A, Jonasdottir A, Oddsson A, Helgason A, Magnusson OT, Walters GB, Frigge ML, Helgadottir HT, Johannsdottir H, Bergsteinsdottir K, Ogmundsdottir MH, Center JR, Nguyen TV, Eisman JA, Christiansen C, Steingrimsson E, Jonasson JG, Tryggvadottir L, Eyjolfsson GI, Theodors A, Jonsson T, Ingvarsson T, Olafsson I, Rafnar T, Kong A, Sigurdsson G, Masson G, Thorsteinsdottir U, Stefansson K
Title
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.
Ehlers-Danlos syndrome cardiac valvular type (EDSCV) is a rare autosomal recessive form of EDS. In addition to the usual skin and joint involvement, patients appear to be at increased risk for cardiac valvular dysfunction. Mutations in the COL1A2 gene that encodes type I collagen can give rise to EDSCV.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD28 Syndromes with connective tissue involvement as a major feature
H02241 Ehlers-Danlos syndrome cardiac valvular type
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H02241 Ehlers-Danlos syndrome cardiac valvular type
Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH
Title
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
Ehlers-Danlos syndrome arthrochalasia type (EDSARTH) is a rare autosomal dominant disorder that is characterized by severe generalized joint hypermobility, with recurrent joint subluxations and luxations. Congenital bilateral hip dislocation at birth and muscular hypotonia are common.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD28 Syndromes with connective tissue involvement as a major feature
H02243 Ehlers-Danlos syndrome arthrochalasia type
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H02243 Ehlers-Danlos syndrome arthrochalasia type
Weil D, D'Alessio M, Ramirez F, de Wet W, Cole WG, Chan D, Bateman JF
Title
A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII.
A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome (OIEDS) is a generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae, short stature) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility). Mutations in COL1A1 are involved in this syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD28 Syndromes with connective tissue involvement as a major feature
H02724 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H02724 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome
Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, Steplewski A, Keene DR, Persikov AV, Leikin S, Marini JC
Title
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, Lopez-Gonzalez V, Mortier G, Nampoothiri S, Petersen MB, De Paepe A
Title
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.