TRPS2
MCID: TRC091
MIFTS: 47

Trichorhinophalangeal Syndrome, Type Ii (TRPS2) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Trichorhinophalangeal Syndrome, Type Ii

Aliases & Descriptions for Trichorhinophalangeal Syndrome, Type Ii:

Name: Trichorhinophalangeal Syndrome, Type Ii 54 13
Langer-Giedion Syndrome 12 24 25 56 52 42 69
Trichorhinophalangeal Syndrome Type Ii 12 50 24 25 14
Trichorhinophalangeal Syndrome Type 2 50 56
Giedion-Langer Syndrome 50 25
Langer Giedion Syndrome 50 29
Deletion 8q24.1 50 56
Monosomy 8q24.1 50 56
Trps2 24 66
Lgs 50 24
Tricho-Rhino-Phalangeal Syndrome Type Ii 25
Trichorhinophalangeal Dysplasia Type Ii 12
Chromosome 8q24.1 Deletion Syndrome 24
Tricho-Rhino-Phalangeal Syndrome 2 66
Trps Ii 25
Trps 2 50

Characteristics:

Orphanet epidemiological data:

56
langer-giedion syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

HPO:

32
trichorhinophalangeal syndrome, type ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 150230
Disease Ontology 12 DOID:4998
MeSH 42 D015826
NCIt 47 C75118
SNOMED-CT 64 239017000 41069008
Orphanet 56 ORPHA502
MESH via Orphanet 43 C536555 D015826
UMLS via Orphanet 70 C0023003 C2931237
ICD10 via Orphanet 34 Q87.8
MedGen 40 C0023003
UMLS 69 C0023003

Summaries for Trichorhinophalangeal Syndrome, Type Ii

Genetics Home Reference : 25 Langer-Giedion syndrome is a condition that causes bone abnormalities and distinctive facial features. People with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. Multiple osteochondromas may result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the osteochondromas. Affected individuals also have short stature and cone-shaped ends of the long bones (epiphyses). The characteristic appearance of individuals with Langer-Giedion syndrome includes sparse scalp hair, a rounded nose, a long flat area between the nose and the upper lip (philtrum), and a thin upper lip. Some people with this condition have loose skin in childhood, which typically resolves with age. Affected individuals may have some intellectual disability.

MalaCards based summary : Trichorhinophalangeal Syndrome, Type Ii, also known as langer-giedion syndrome, is related to lennox-gastaut syndrome and exostoses, multiple, type 1, 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). The drugs Aldesleukin and Adjuvants, Immunologic have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and spinal cord, and related phenotypes are Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation and mortality/aging

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.

NIH Rare Diseases : 50 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. last updated: 5/17/2015

UniProtKB/Swiss-Prot : 66 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 : 71 Langer-Giedion Syndrome (LGS), also called trichorhinophalangeal syndrome type II (TRPS2) or LGCR (for... more...

Description from OMIM: 150230

Related Diseases for Trichorhinophalangeal Syndrome, Type Ii

Graphical network of the top 20 diseases related to Trichorhinophalangeal Syndrome, Type Ii:



Diseases related to Trichorhinophalangeal Syndrome, Type Ii

Symptoms & Phenotypes for Trichorhinophalangeal Syndrome, Type Ii

Symptoms by clinical synopsis from OMIM:

150230

Clinical features from OMIM:

150230

Symptoms:

12
  • sparse scalp hair
  • thin upper lip
  • rounded nose

Human phenotypes related to Trichorhinophalangeal Syndrome, Type Ii:

56 32 (show top 50) (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bone pain 56 32 Very frequent (99-80%) HP:0002653
2 joint dislocation 56 32 Frequent (79-30%) HP:0001373
3 genu valgum 56 32 Occasional (29-5%) HP:0002857
4 intellectual disability 56 32 Frequent (79-30%) HP:0001249
5 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
6 hip dysplasia 56 32 Occasional (29-5%) HP:0001385
7 delayed skeletal maturation 56 32 Very frequent (99-80%) HP:0002750
8 wide nasal bridge 56 32 Occasional (29-5%) HP:0000431
9 microcephaly 56 32 Occasional (29-5%) HP:0000252
10 thick eyebrow 56 32 Frequent (79-30%) HP:0000574
11 short stature 56 32 Very frequent (99-80%) HP:0004322
12 long philtrum 56 32 Very frequent (99-80%) HP:0000343
13 thick nasal alae 56 32 Occasional (29-5%) HP:0009928
14 joint hyperflexibility 56 32 Frequent (79-30%) HP:0005692
15 aplasia/hypoplasia of the mandible 56 32 Frequent (79-30%) HP:0009118
16 protruding ear 56 32 Very frequent (99-80%) HP:0000411
17 ventriculomegaly 56 32 Occasional (29-5%) HP:0002119
18 low-set, posteriorly rotated ears 56 32 Very frequent (99-80%) HP:0000368
19 increased number of teeth 56 32 Occasional (29-5%) HP:0011069
20 conductive hearing impairment 56 32 Occasional (29-5%) HP:0000405
21 brachydactyly syndrome 56 32 Occasional (29-5%) HP:0001156
22 bilateral single transverse palmar creases 56 32 Occasional (29-5%) HP:0007598
23 vesicoureteral reflux 56 32 Occasional (29-5%) HP:0000076
24 bulbous nose 56 32 Very frequent (99-80%) HP:0000414
25 thin upper lip vermilion 56 32 Very frequent (99-80%) HP:0000219
26 deep philtrum 56 32 Very frequent (99-80%) HP:0002002
27 sparse scalp hair 56 32 Very frequent (99-80%) HP:0002209
28 recurrent urinary tract infections 56 32 Occasional (29-5%) HP:0000010
29 redundant skin 56 32 Frequent (79-30%) HP:0001582
30 abnormality of the palate 56 32 Occasional (29-5%) HP:0000174
31 talipes 56 32 Occasional (29-5%) HP:0001883
32 multiple long-bone exostoses 56 32 Very frequent (99-80%) HP:0005039
33 avascular necrosis of the capital femoral epiphysis 56 32 Occasional (29-5%) HP:0005743
34 cone-shaped epiphyses of the phalanges of the hand 56 32 Very frequent (99-80%) HP:0010230
35 scoliosis 32 HP:0002650
36 hearing impairment 32 HP:0000365
37 macrotia 32 HP:0000400
38 abnormality of the teeth 56 Occasional (29-5%)
39 delayed speech and language development 32 HP:0000750
40 exostoses 56 Very frequent (99-80%)
41 malformation of the heart and great vessels 56 Occasional (29-5%)
42 recurrent upper respiratory tract infections 32 HP:0002788
43 growth delay 56 Occasional (29-5%)
44 nevus 32 HP:0003764
45 scapular winging 32 HP:0003691
46 deeply set eye 32 HP:0000490
47 joint hypermobility 32 HP:0001382
48 abnormality of cardiovascular system morphology 32 HP:0030680
49 fragile nails 32 HP:0001808
50 syndactyly 32 HP:0001159

GenomeRNAi Phenotypes related to Trichorhinophalangeal Syndrome, Type Ii according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.8 EXT1 KCNQ3 RAD21

MGI Mouse Phenotypes related to Trichorhinophalangeal Syndrome, Type Ii:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.5 BMP1 EIF3H EXT1 KCNQ3 RAD21 TNFRSF11B
2 craniofacial MP:0005382 9.46 BMP1 EXT1 TNFRSF11B TRPS1
3 skeleton MP:0005390 9.02 BMP1 EIF3H EXT1 TNFRSF11B TRPS1

Drugs & Therapeutics for Trichorhinophalangeal Syndrome, Type Ii

Drugs for Trichorhinophalangeal Syndrome, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
2 Adjuvants, Immunologic Phase 2
3 Anti-HIV Agents Phase 2
4 Anti-Infective Agents Phase 2
5 Anti-Retroviral Agents Phase 2
6 Antiviral Agents Phase 2
7 Freund's Adjuvant Phase 2
8 Interleukin-2 Phase 2
9 Vaccines Phase 2,Phase 1
10
Benzocaine Approved 1994-09-7, 94-09-7 2337
11
Menthol Approved 2216-51-5 16666
12 tannic acid Approved, Nutraceutical
13 Hemostatics

Interventional clinical trials:


id Name Status NCT ID Phase
1 Vaccine Therapy With or Without Interleukin-2 in Treating Patients With Metastatic Melanoma That Has Not Responded to Previous Treatment Completed NCT00022438 Phase 2
2 Immune Responses to Autologous Langerhans-type Dendritic Cells Electroporated With mRNA Encoding a Tumor-associated Antigen in Patients With Malignancy: A Single-arm Phase I Trial in Melanoma Active, not recruiting NCT01456104 Phase 1
3 Referred Pain Patterns Infraspinatus Muscle Completed NCT02817269

Search NIH Clinical Center for Trichorhinophalangeal Syndrome, Type Ii

Cochrane evidence based reviews: langer-giedion syndrome

Genetic Tests for Trichorhinophalangeal Syndrome, Type Ii

Genetic tests related to Trichorhinophalangeal Syndrome, Type Ii:

id Genetic test Affiliating Genes
1 Langer-Giedion Syndrome 29
2 Trichorhinophalangeal Syndrome Type Ii 24 TRPS1

Anatomical Context for Trichorhinophalangeal Syndrome, Type Ii

MalaCards organs/tissues related to Trichorhinophalangeal Syndrome, Type Ii:

39
Skin, Bone, Spinal Cord, Heart, Eye, Pancreas

The Foundational Model of Anatomy Ontology organs/tissues related to Trichorhinophalangeal Syndrome, Type Ii:

18
Epiphysis

Publications for Trichorhinophalangeal Syndrome, Type Ii

Articles related to Trichorhinophalangeal Syndrome, Type Ii:

id Title Authors Year
1
Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion. ( 26673557 )
2015
2
Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis. ( 24909397 )
2014
3
Severe muscle weakness to necessitate rehabilitation in a case of trichorhinophalangeal syndrome type II. ( 18759793 )
2009
4
Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis. ( 17688470 )
2007
5
Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome). ( 12165224 )
2001
6
Trichorhinophalangeal syndrome type II: case report. ( 10944842 )
2000

Variations for Trichorhinophalangeal Syndrome, Type Ii

Copy number variations for Trichorhinophalangeal Syndrome, Type Ii from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 232524 8 117700000 127300000 Copy number EXT1 Langer-Giedion syndrome
2 232528 8 117700000 127300000 Microdeletion Langer-Giedion syndrome
3 240057 8 45200000 146274826 Copy number EIF3S3 Langer-Giedion syndrome
4 240058 8 45200000 146274826 Copy number TRPS1 Langer-Giedion syndrome

Expression for Trichorhinophalangeal Syndrome, Type Ii

Search GEO for disease gene expression data for Trichorhinophalangeal Syndrome, Type Ii.

Pathways for Trichorhinophalangeal Syndrome, Type Ii

GO Terms for Trichorhinophalangeal Syndrome, Type Ii

Biological processes related to Trichorhinophalangeal Syndrome, Type Ii according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 8.96 BMP1 EXT1
2 skeletal system development GO:0001501 8.92 BMP1 EXT1 TNFRSF11B TRPS1

Sources for Trichorhinophalangeal Syndrome, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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