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Precis Future Med > Volume 6(4); 2022 > Article |
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AUTHOR CONTRIBUTIONS
Conception or design: YMK.
Acquisition, analysis, or interpretation of data: YMK.
Drafting the work or revising: YMK.
Final approval of the manuscript: YMK.
Paracrine signal | Gene (locus) | Disorder | |
---|---|---|---|
Insulin-like growth factor (IGF2) | H19/IGF2 (pat transmission) | Silver-Russell syndrome (SRS) | |
IGF2 (pat) (11p15.5) | |||
CDKN1C (mat) (11p15.5) | |||
PLAG1 (8q12), HMGA2 (12q14) | |||
C-type natriuretic peptide (CNP) | NPR2 (9p13.3) | Isolated short stature (autosomal dominant, AD) | |
Epiphyseal chondrodysplasia, Miura type (AD) | |||
Acromesomelic dysplasia 1, Maroteaux type (autosomal recessive, AR) | |||
Fibroblast growth factor (FGF) | FGFR3 (4p16.3) | Achondroplasia or hypochondroplasia (AD) | |
Thanatophoric dysplasia I, II (AD) | |||
Idiopathic short stature (AD) | |||
Parathyroid hormone-related protein (PTHrP) and Indian hedgehog (IHH) signaling | PTH1R (3p21.31) | Blomstrand lethal chondrodysplasia (AR) | |
Jansen metaphyseal chondrodysplasia (AD) | |||
IHH (2q35) | Brachydactyly type A1 (AD) | ||
Short stature without skeletal abnormalities (AD) | |||
Bone morphogenic protein (BMP) signaling | BMPR1B (4q22.3) | Acromesomelic dysplasia 3 (AR) | |
Brachydactyly, type A1, D (AD) | |||
Brachydactyly, type A2 (AD) | |||
WNT signaling | ROR2 (9q22.31) | Robinow syndrome, AR1 | |
NXN (17p13.3) | Robinow syndrome, AR2 | ||
WNT5A (3p14.3) | Robinow syndrome, AD1 | ||
DVL1 (1p36.33) | Robinow syndrome, AD2 | ||
DVL3 (3q27.1) | Robinow syndrome, AD3 | ||
Extracellular matrix synthesis: collagen matrix protein | |||
Type II collagen | COL2A1 (12q13) | Achondrogenesis, type II, hypochondrogenesis (AD) | |
Spondyloperipheral dysplasia (AD) | |||
Spondyloepimetaphyseal dysplasia (AD) | |||
Type IX collagen | COL9A1 (6q13) | Multiple epiphyseal dysplasia (MED), type 6 (AD) | |
COL9A2 (1p34.2) | MED2 (AD) | ||
COL9A3 (20q13.33) | MED3, with or without myopathy (AD) | ||
Type X collagen | COL10A1 (6q22.1) | Metaphyseal chondrodysplasia, Schmid type (AD) | |
Type XI collagen | COL11A1 (1p21.1) | Marshall syndrome (AD), | |
COL11A2 (6p21.32) | Otospondylomegaepiphyseal dysplasia (AD, AR) | ||
Extracellular matrix synthesis: non-collagen matrix protein | |||
Aggrecan | ACAN (15q26.1) | Short stature and advanced bone age, with or without early onset osteoarthritis and/or osteochondritis dissecans (AD) | |
Spondyloepiphyseal dysplasia, Kimberley type (AD) | |||
Spondyloepimetaphyseal dysplasia, aggrecan type (AR) | |||
Cartilage oligomeric matrix protein (COMP) | COMP (19p13.11) | MED1 (AD) | |
Pseudoachondroplasia (AD) | |||
Matrilin-3 (MATN3) | MATN3 (2p24.1) | MED5 (AD) | |
Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (AR) | |||
Fibrillin 1 | FBN1 (15q21.1) | Acromicric dysplasia trait (AD), Geleophysic dysplasia 2 (AD) | |
Fundamental cellular disorder | |||
Transcriptional factor | SHOX (Xp22.33) | Langer mesomelic dysplasia (AD) | |
Léri-Weill dyschondrosteosis (AD) | |||
Short stature, idiopathic familial (AD) | |||
Rasopathies (disorder of Ras-MAPK pathway) | NF1 (17q11.2) | Neurofibromatosis 1 (AD) | |
SPRED (15q14) | Legius syndrome (AD) | ||
HRAS (11p15.5) | Costello syndrome (AD) | ||
PTPN11 (12q24.13)a), SOS1 (2p22.11), BRAF (7q34)a),b), KRAS (12p12.1)b), MAP2K1 (15q22.31)a),b), MRAS (3q22.3), NRAS (1p13.2), RAF1 (3p25.2)a), RASA2 (3q23), RIT1 (1q22), RRAS2 (11p15.2), SOS2 (14q21.3), LZTR1 (22q11.21) | Noonan syndrome (AD) | ||
Noonan syndrome with multiple lentigines (AD) | |||
Cardiofaciocutaneous syndrome (CFC) (AD) | |||
MAP2K2 (19p13.3)b),c) | |||
Microtubule stabilization and genome stability | CUL7 (6p21.1), OBSL1 (2q35), CCDC8 (19q13.32) | 3M syndrome (AR) | |
DNA damage repair syndrome | BLM (15q26.1) | Bloom syndrome (AR) | |
>20 genes | Fanconi anemia (AR, AD, XL) | ||
Regulator of a DNA damage response signaling cascade | ATR (3q23) | Seckel syndrome (AR) | |
snRNA function and splicing core centrosomal protein | RNU4ATAC (2q14.2) | Microcephalic osteodysplastic primordial dwarfism 1 (AR) | |
PCNT (21q22.3) | Microcephalic osteodysplastic primordial dwarfism 2 (AR) | ||
Prereplication complex | ORC1 (1p32.3) | Meier-Gorlin syndrome (MGOR) 1 (AR) | |
ORC4 (2q23.1) | MGORS2 (AR) | ||
ORC6 (16q11.2) | MGORS3 (AR) | ||
CDT1 (16q24.3) | MGORS4 (AR) | ||
CDC6 (17q21.2) | MGORS5 (AR) | ||
GMNN (6p22.3) | MGORS6 (AD) | ||
CDC45L (22q11.21) | MGORS7 (AR) | ||
MCM5 (22q12.3) | MGORS8 (AR) |