| Worth syndrome |
|---|
 |
| Worth syndrome has an autosomal dominant pattern of inheritance. |
Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus platinus, autosomal dominant osteosclerosis, autosomal dominant endosteal hyperostosis or Worth disease,[1][2] is a rare autosomal dominant congenital disorder that is caused by a mutation in the LRP5 gene.[3] It is characterized by increased bone density and benign bony structures on the palate.[1][3][4][5]
Causes
Worth syndrome is caused by a mutation in the LRP5 gene, located on human chromosome 11q13.4.[3][6] The disorder is inherited in an autosomal dominant fashion.[1] This indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 11 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.[citation needed]
Diagnosis
Treatment
History
The condition was first reported by H. M. Worth in 1966. In 1977, two doctors, R.J. Gorlin and L. Glass, distinguished the syndrome from van Buchem disease. In 1987 a group of Spain doctors pointed out that the condition may not be benign, and may sometimes cause nerve damage.[1]
References
- ↑ 1.0 1.1 1.2 1.3 Online Mendelian Inheritance in Man (OMIM) 144750
- ↑ DDB 32107
- ↑ 3.0 3.1 3.2 "Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density" (Free full text). Am. J. Hum. Genet. 72 (3): 763–771. March 2003. doi:10.1086/368277. PMID 12579474.
- ↑ "Worth Syndrome". http://www.wrongdiagnosis.com/w/worth_syndrome/intro.htm.
- ↑ "Worth's Syndrome". Medcyclopedia. http://www.medcyclopaedia.com/library/topics/volume_iii_1/w/worths_syndrome.aspx.
- ↑ Online Mendelian Inheritance in Man (OMIM) 603506
External links
| Classification | D - ICD-10: Q78.2
- OMIM: 144750
- DiseasesDB: 32107
|
|---|
| External resources | |
|---|
Cell surface receptor deficiencies |
|---|
G protein-coupled receptor
(including hormone) | | Class A |
- TSHR (Congenital hypothyroidism 1)
- LHCGR (Luteinizing hormone insensitivity, [[Biology:Leydig cell hypoplLeydig cell hypoplasia, Male-limited precocious puberty]])
- FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis)
- GnRHR (Gonadotropin-releasing hormone insensitivity)
- EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2)
- AVPR2 (Nephrogenic diabetes insipidus 1)
- PTGER2 (Aspirin-induced asthma)
|
|---|
| Class B |
- PTH1R (Jansen's metaphyseal chondrodysplasia)
|
|---|
| Class C |
- CASR (Familial hypocalciuric hypercalcemia)
|
|---|
| Class F |
- FZD4 (Familial exudative vitreoretinopathy 1)
|
|---|
|
|---|
Enzyme-linked receptor
(including
growth factor) | | RTK |
- ROR2 (Robinow syndrome)
- FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome)
- FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome]], Jackson–Weiss syndrome)
- FGFR3 ([[Medicine:AchondropAchondroplasia, HypochondroplAsia|Hypochondroplasia, []][Thanatophoric dysplasia]], Muenke syndrome)
- INSR (Donohue syndrome
- Rabson–Mendenhall syndrome)
- NTRK1 (Congenital insensitivity to pain with anhidrosis)
- KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
|
|---|
| STPK |
- AMHR2 (Persistent Müllerian duct syndrome II)
- TGF beta receptors: Endoglin/Alk-1/Mothers against decapentaplegic homolog 4
|
|---|
| GC |
- GUCY2D (Leber's congenital amaurosis 1)
|
|---|
|
|---|
| JAK-STAT |
- Type I cytokine receptor: GH (Laron syndrome)
- CSF2RA (Surfactant metabolism dysfunction 4)
- MPL (Congenital amegakaryocytic thrombocytopenia)
|
|---|
| TNF receptor |
- TNFRSF1A (TNF receptor associated periodic syndrome)
- TNFRSF13B (Selective immunoglobulin A deficiency 2)
- TNFRSF5 (Hyper-IgM syndrome type 3)
- TNFRSF13C (CVID4)
- TNFRSF13B (CVID2)
- TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)
|
|---|
| Lipid receptor |
- LRP: LRP2 (Donnai–Barrow syndrome)
- LRP4 (Cenani–Lenz syndactylism)
- LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
- LDLR (LDLR Familial hypercholesterolemia)
|
|---|
| Other/ungrouped |
- Immunoglobulin superfamily: AGM3, 6
- Integrin: LAD1
- Glanzmann's thrombasthenia
- Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR hypohidrotic ectodermal dysplasia)
- PTCH1 (Nevoid basal-cell carcinoma syndrome)
- BMPR1A (BMPR1A juvenile polyposis syndrome)
- IL2RG (X-linked severe combined immunodeficiency)
- See also
- cell surface receptors
|
|---|
 | Original source: https://en.wikipedia.org/wiki/Worth syndrome. Read more |
From Handwiki 
KSF