TRPS2
MCID: TRC091
MIFTS: 52
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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:Inheritance:
Trichorhinophalangeal Syndrome, Type Ii:
Autosomal dominant 57
Trichorhinophalangeal Syndrome Type 2:
Autosomal dominant 58
Prevelance:
Trichorhinophalangeal Syndrome Type 2:
<1/1000000 (Worldwide) 58
Age Of Onset:
Trichorhinophalangeal Syndrome Type 2:
Childhood,Infancy,Neonatal 58
Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Neuronal diseases Bone diseases Skin diseases Ear diseases Smell/Taste diseases
ICD10:
32
ICD11:
33
Orphanet: 58
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MedlinePlus Genetics: 42 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).People with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. Affected individuals may develop a few to several hundred osteochondromas. These bone growths typically begin in infancy to early childhood and stop forming around adolescence. Depending on the location of the osteochondromas, they can cause pain, limited range of joint movement, or damage to blood vessels or the spinal cord. Individuals with TRPS II may have reduced bone mineral density (osteopenia). Affected individuals often have slow growth before and after birth resulting in short stature. In TRPS II, the ends (epiphyses) of one or more bones in the fingers or toes are abnormally cone-shaped. Additionally, the fingernails and toenails are typically thin and abnormally formed.Children with TRPS II often have an unusually large range of joint movement (hypermobility). However, as osteochondromas begin to develop, typically starting between infancy and mid-childhood, the joints begin to stiffen, leading to decreased mobility. Individuals with TRPS II may also have a misalignment of the hip joints (hip dysplasia), which often develops in early adulthood but can occur in infancy or childhood.The characteristic appearance of individuals with TRPS II involves thick eyebrows; a broad nose with a rounded tip; a long, smooth area between the nose and the upper lip (philtrum); a thin upper lip; and small teeth that are either decreased (oligodontia) or increased (supernumerary) in number. Almost all affected individuals have sparse scalp hair. Males are particularly affected by hair loss, with many being nearly or completely bald soon after puberty. Some children with this condition have loose skin, but the skin becomes tighter over time. Individuals with TRPS II may experience excessive sweating (hyperhidrosis).Most individuals with TRPS II have mild intellectual disability. MalaCards based summary: Trichorhinophalangeal Syndrome, Type Ii, also known as langer-giedion syndrome, is related to exostoses, multiple, type i and trichorhinophalangeal syndrome, 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 are Mitotic Telophase/Cytokinesis and Proteoglycan biosynthesis. Affiliated tissues include epiphysis, skin and bone, and related phenotypes are delayed skeletal maturation and short stature GARD: 19 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. OMIM®: 57 Trichorhinophalangeal syndrome type II (TRPS2), or Langer-Giedion syndrome (LGS), is a contiguous gene deletion syndrome characterized by cone-shaped epiphyses, multiple cartilaginous exostoses, and facial dysmorphism including bulbous nose, elongated upper lip with flat philtrum, and large protruding ears. Scalp hair is usually sparse, with thin and brittle hair shafts. Intellectual development is mildly to moderately impaired. Seizures have occasionally been reported. Other skeletal or orthopedic, urogenital, and endocrine anomalies may be present (summary by Schinzel et al., 2013). (150230) (Updated 08-Dec-2022) UniProtKB/Swiss-Prot: 73 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 intellectual disability. Disease Ontology: 11 A syndrome 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. Orphanet: 58 A rare multiple congenital anomalies syndrome characterized by the association of intellectual disability and numerous other anomalies including redundant skin, multiple cartilaginous exostoses, characteristic facies and cone-shaped phalangeal epiphyses. Wikipedia 75 Langer-giedion syndrome: Langer-Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a... more... Lgs: Leaky gut syndrome is a hypothetical, medically unrecognized... more... |
Human phenotypes related to Trichorhinophalangeal Syndrome, Type Ii:58 30 (show top 50) (show all 107)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:150230 (Updated 08-Dec-2022)MGI Mouse Phenotypes related to Trichorhinophalangeal Syndrome, Type Ii:45
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Cochrane evidence based reviews: langer-giedion syndrome |
Genetic tests related to Trichorhinophalangeal Syndrome, Type Ii:
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Organs/tissues related to Trichorhinophalangeal Syndrome, Type Ii:
MalaCards :
Skin,
Bone,
Spinal Cord,
Heart,
Eye,
Pancreas,
Brain
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Articles related to Trichorhinophalangeal Syndrome, Type Ii:(show top 50) (show all 155)
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ClinVar genetic disease variations for Trichorhinophalangeal Syndrome, Type Ii:5
Copy number variations for Trichorhinophalangeal Syndrome, Type Ii from CNVD:6
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for disease gene expression data for Trichorhinophalangeal Syndrome, Type Ii.
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Cellular components related to Trichorhinophalangeal Syndrome, Type Ii according to GeneCards Suite gene sharing:
Biological processes related to Trichorhinophalangeal Syndrome, Type Ii according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Trichorhinophalangeal Syndrome, Type Ii according to GeneCards Suite gene sharing:
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