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TRPS2
MCID: TRC091
MIFTS: 50
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Trichorhinophalangeal Syndrome, Type Ii (TRPS2)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases
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MalaCards integrated aliases for Trichorhinophalangeal Syndrome, Type Ii:
Characteristics:Orphanet epidemiological data:59
trichorhinophalangeal syndrome type 2
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
male predominance majority of cases sporadic HPO:32Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Neuronal diseases Bone diseases Skin diseases Ear diseases Smell/Taste diseases
ICD10:
34
Orphanet: 59
Rare neurological diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
External Ids:
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NIH Rare Diseases
:
53
Trichorhinophalangeal syndrome type 2 (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder. The condition is characterized by intellectual deficit and numerous other abnormalities including excess folds of skin, multiple bony growths (exostoses), characteristic facial features, and cone-shaped phalangeal epiphyses (the growing ends of the bones in the fingers). The range and severity of symptoms varies greatly from person to person. TRPS2 is transmitted in an autosomal dominant manner, but many sporadic cases have been reported. TRPS2 is due to the absence of genetic material (chromosomal deletions) on chromosome 8, which often includes the TRPS1 gene and EXT1 gene. The size of the deletion varies from person to person.
MalaCards based summary : Trichorhinophalangeal Syndrome, Type Ii, also known as langer-giedion syndrome, is related to trichorhinophalangeal syndrome and hereditary multiple exostoses, and has symptoms including sparse scalp hair, thin upper lip and rounded nose. An important gene associated with Trichorhinophalangeal Syndrome, Type Ii is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways is heparan sulfate biosynthesis. The drugs Aldesleukin and Interleukin-2 have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are joint dislocation and genu valgum Disease Ontology : 12 An autosomal dominant disease that has material basis in mutation of the EXT1 and TRPS1 gene which results in multiple exostosis along with short stature and cone-shaped ends located in epiphysis. The disease has symptom sparse scalp hair, has symptom thin upper lip, has symptom rounded nose. Genetics Home Reference : 25 Trichorhinophalangeal syndrome type II (TRPS II) is a condition that causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The name of the condition describes some of the areas of the body that are commonly affected: hair (tricho-), nose (rhino-), and fingers and toes (phalangeal). UniProtKB/Swiss-Prot : 75 Tricho-rhino-phalangeal syndrome 2: A syndrome that combines the clinical features of tricho-rhino- phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. Wikipedia : 76 Langer�??Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a... more...
Description from OMIM:
150230
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:150230Symptoms:12
Human phenotypes related to Trichorhinophalangeal Syndrome, Type Ii:59 32 (show top 50) (show all 58)
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Drugs for Trichorhinophalangeal Syndrome, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 13)
Interventional clinical trials:
Cochrane evidence based reviews: langer-giedion syndrome |
Genetic tests related to Trichorhinophalangeal Syndrome, Type Ii:
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MalaCards organs/tissues related to Trichorhinophalangeal Syndrome, Type Ii:41
Skin,
Bone,
Eye,
Heart,
Pancreas,
Kidney
The Foundational Model of Anatomy Ontology organs/tissues related to Trichorhinophalangeal Syndrome, Type Ii:19
Epiphysis
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Articles related to Trichorhinophalangeal Syndrome, Type Ii:(show top 50) (show all 78)
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Genes related to Trichorhinophalangeal Syndrome, Type Ii (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Trichorhinophalangeal Syndrome, Type Ii:6
Copy number variations for Trichorhinophalangeal Syndrome, Type Ii from CNVD:7
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Search
GEO
for disease gene expression data for Trichorhinophalangeal Syndrome, Type Ii.
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Biological processes related to Trichorhinophalangeal Syndrome, Type Ii according to GeneCards Suite gene sharing:
Molecular functions related to Trichorhinophalangeal Syndrome, Type Ii according to GeneCards Suite gene sharing:
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