Metachondromatosis has an autosomal dominant pattern of inheritance.
Metachondromatosis is an autosomal dominant[1]incompletely penetrant[2]skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas.[2] This tumor syndrome affects mainly tubular bones, though it can also involve the vertebrae, small joints, and flat bones.[3]
Contents
1Genetics
2Diagnosis
3Treatment
4References
5External links
Genetics
Metachondromatosis is inherited in an autosomal dominant manner.[2] This means that the defective gene responsible for a disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
^ abcdSobreira NL, Cirulli ET, Avramopoulos D, et al. (2010). "Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene". PLoS Genet. 6 (6): e1000991. doi:10.1371/journal.pgen.1000991. PMC 2887469. PMID 20577567.
^Hunter AG, Kozlowski K, Hochberger O (1995). "Metachondromatosis". Can Assoc Radiol J. 46 (3): 202–8. PMID 7538882.
External links
Classification
D
ICD-10: Q78.4
OMIM: 156250
DiseasesDB: 32116
External resources
Orphanet: 2499
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Deficiencies of intracellular signaling peptides and proteins
GTP-binding protein regulators
GTPase-activating protein
Neurofibromatosis type I
Watson syndrome
Tuberous sclerosis
Guanine nucleotide exchange factor
Marinesco–Sjögren syndrome
Aarskog–Scott syndrome
Juvenile primary lateral sclerosis
X-Linked mental retardation 1
G protein
Heterotrimeic
cAMP/GNAS1: Pseudopseudohypoparathyroidism
Progressive osseous heteroplasia
Pseudohypoparathyroidism
Albright's hereditary osteodystrophy
McCune–Albright syndrome
CGL 2
Monomeric
RAS: HRAS
Costello syndrome
KRAS
Noonan syndrome 3
KRAS Cardiofaciocutaneous syndrome
RAB: RAB7
Charcot–Marie–Tooth disease
RAB23
Carpenter syndrome
RAB27
Griscelli syndrome type 2
RHO: RAC2
Neutrophil immunodeficiency syndrome
ARF: SAR1B
Chylomicron retention disease
ARL13B
Joubert syndrome 8
ARL6
Bardet–Biedl syndrome 3
MAP kinase
Cardiofaciocutaneous syndrome
Other kinase/phosphatase
Tyrosine kinase
BTK
X-linked agammaglobulinemia
ZAP70
ZAP70 deficiency
Serine/threonine kinase
RPS6KA3
Coffin-Lowry syndrome
CHEK2
Li-Fraumeni syndrome 2
IKBKG
Incontinentia pigmenti
STK11
Peutz–Jeghers syndrome
DMPK
Myotonic dystrophy 1
ATR
Seckel syndrome 1
GRK1
Oguchi disease 2
WNK4/WNK1
Pseudohypoaldosteronism 2
Tyrosine phosphatase
PTEN
Bannayan–Riley–Ruvalcaba syndrome
Lhermitte–Duclos disease
Cowden syndrome
Proteus-like syndrome
MTM1
X-linked myotubular myopathy
PTPN11
Noonan syndrome 1
LEOPARD syndrome
Metachondromatosis
Signal transducing adaptor proteins
EDARADD
EDARADD Hypohidrotic ectodermal dysplasia
SH3BP2
Cherubism
LDB3
Zaspopathy
Other
NF2
Neurofibromatosis type II
NOTCH3
CADASIL
PRKAR1A
Carney complex
PRKAG2
Wolff–Parkinson–White syndrome
PRKCSH
PRKCSH Polycystic liver disease
XIAP
XIAP2
See also intracellular signaling peptides and proteins
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Chute spillway of Llyn Brianne dam in Wales A spillway is a structure used to provide the controlled release of flows from a dam or levee into a downstream area, typically the riverbed of the dammed river itself. In the United Kingdom, they may be known as overflow channels . Spillways ensure that the water does not overflow and damage or destroy the dam. Floodgates and fuse plugs may be designed into spillways to regulate water flow and reservoir level. Such a spillway can be used to regulate downstream flows – by releasing water in small amounts before the reservoir is full, operators can prevent sudden large releases that would happen if the dam were overtopped. Other uses of the term "spillway" include bypasses of dams or outlets of channels used during high water, and outlet channels carved through natural dams such as moraines. Water normally flows over a spillway only during flood periods – when the reservoir cannot hold the excess of water entering the reservoir ove...
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