TRPS2
MCID: TRC091
MIFTS: 52

Trichorhinophalangeal Syndrome, Type Ii (TRPS2)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Trichorhinophalangeal Syndrome, Type Ii

MalaCards integrated aliases for Trichorhinophalangeal Syndrome, Type Ii:

Name: Trichorhinophalangeal Syndrome, Type Ii 58 13
Langer-Giedion Syndrome 58 12 77 26 60 30 56 6 45 74
Trichorhinophalangeal Syndrome Type Ii 12 54 26 15
Lgs 58 77 54 26
Trichorhinophalangeal Syndrome Type 2 12 54 60
Trps2 58 26 76
Chromosome 8q24.1 Deletion Syndrome 58 26
Giedion-Langer Syndrome 54 26
Deletion 8q24.1 54 60
Monosomy 8q24.1 54 60
Trichorhinophalangeal Syndrome with Exostosis 26
Trichorhinophalangeal Syndrome, Type Ii ) 41
Tricho-Rhino-Phalangeal Syndrome Type Ii 26
Trichorhinophalangeal Dysplasia Type Ii 12
Tricho-Rhino-Phalangeal Syndrome 2 76
Langer-Giedion Syndrome; Lgs 58
Langer Giedion Syndrome 54
Trps Ii 26
Trps 2 54

Characteristics:

Orphanet epidemiological data:

60
trichorhinophalangeal syndrome type 2
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
male predominance
majority of cases sporadic


HPO:

33
trichorhinophalangeal syndrome, type ii:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Trichorhinophalangeal Syndrome, Type Ii

NIH Rare Diseases : 54 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 lennox-gastaut 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). The drugs Aldesleukin and Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are delayed skeletal maturation and short stature

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 : 26 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 : 76 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 : 77 Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a... more...

Description from OMIM: 150230

Related Diseases for Trichorhinophalangeal Syndrome, Type Ii

Diseases in the Trichorhinophalangeal Syndrome family:

Trichorhinophalangeal Syndrome, Type Ii Trichorhinophalangeal Syndrome, Type I
Trichorhinophalangeal Syndrome, Type Iii Trichorhinophalangeal Syndrome Type 1 and 3

Diseases related to Trichorhinophalangeal Syndrome, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 trichorhinophalangeal syndrome 30.9 EXT1 TRPS1
2 lennox-gastaut syndrome 12.0
3 exostoses, multiple, type i 11.3
4 lymphomatoid granulomatosis 11.1
5 cornelia de lange syndrome 10.6
6 cleft palate, isolated 10.4
7 tibial hemimelia 10.4
8 cornelia de lange syndrome 4 10.4
9 nephrotic syndrome 10.4
10 total anomalous pulmonary venous return 1 10.3
11 cornelia de lange syndrome 1 10.3
12 autism 10.3
13 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
14 entropion 10.3
15 epilepsy 10.3
16 hereditary multiple exostoses 10.3
17 cystic kidney disease 10.3
18 growth hormone deficiency 10.3
19 osteochondroma 10.3
20 lesch-nyhan syndrome 10.1
21 gastric cancer 10.1
22 metachondromatosis 10.0
23 pancreas, annular 10.0
24 polyglucosan body myopathy 1 with or without immunodeficiency 10.0
25 hereditary multiple osteochondromas 10.0 EXT1 TRPS1
26 melanoma 10.0
27 breast cancer 9.9
28 retinitis pigmentosa 9.9
29 cerebral palsy 9.9
30 nephrolithiasis 9.9
31 spinal stenosis 9.9
32 spastic cerebral palsy 9.9
33 allergic conjunctivitis 9.9
34 cholecystitis 9.9
35 acalculous cholecystitis 9.9
36 pyoderma 9.9
37 essential tremor 9.9
38 conjunctivitis 9.9
39 muscular dystrophy 9.9
40 epilepsy with myoclonic-atonic seizures 9.9
41 depression 9.9
42 tremor 9.9
43 hypertrichosis 9.9 EXT1 TRPS1
44 malignant glioma 9.8
45 glioma 9.8
46 bone remodeling disease 9.7 EXT1 TNFRSF11B
47 trichorhinophalangeal syndrome, type i 9.0 EIF3H EXT1 RHNO1 TNFRSF11B TRPS1

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

Human phenotypes related to Trichorhinophalangeal Syndrome, Type Ii:

60 33 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
4 protruding ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000411
5 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
6 bulbous nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000414
7 thin upper lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000219
8 deep philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002002
9 sparse scalp hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002209
10 bone pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002653
11 multiple long-bone exostoses 60 33 hallmark (90%) Very frequent (99-80%) HP:0005039
12 cone-shaped epiphyses of the phalanges of the hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0010230
13 joint dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0001373
14 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
15 thick eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0000574
16 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
17 aplasia/hypoplasia of the mandible 60 33 frequent (33%) Frequent (79-30%) HP:0009118
18 redundant skin 60 33 frequent (33%) Frequent (79-30%) HP:0001582
19 genu valgum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002857
20 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
21 hip dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001385
22 wide nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000431
23 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
24 thick nasal alae 60 33 occasional (7.5%) Occasional (29-5%) HP:0009928
25 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
26 increased number of teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0011069
27 conductive hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000405
28 brachydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001156
29 bilateral single transverse palmar creases 60 33 occasional (7.5%) Occasional (29-5%) HP:0007598
30 vesicoureteral reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0000076
31 recurrent urinary tract infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0000010
32 talipes 60 33 occasional (7.5%) Occasional (29-5%) HP:0001883
33 avascular necrosis of the capital femoral epiphysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0005743
34 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
35 abnormal palate morphology 33 occasional (7.5%) HP:0000174
36 scoliosis 33 HP:0002650
37 hearing impairment 33 HP:0000365
38 macrotia 33 HP:0000400
39 abnormality of the dentition 60 Occasional (29-5%)
40 delayed speech and language development 33 HP:0000750
41 exostoses 60 Very frequent (99-80%)
42 malformation of the heart and great vessels 60 Occasional (29-5%)
43 recurrent upper respiratory tract infections 33 HP:0002788
44 growth delay 60 Occasional (29-5%)
45 nevus 33 HP:0003764
46 scapular winging 33 HP:0003691
47 deeply set eye 33 HP:0000490
48 joint hypermobility 33 HP:0001382
49 abnormality of the palate 60 Occasional (29-5%)
50 generalized hypotonia 33 HP:0001290

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis

Respiratory Airways:
recurrent upper respiratory tract infections

Skin Nails Hair Hair:
sparse scalp hair

Head And Neck Eyes:
exotropia
deep-set eyes

Genitourinary Ureters:
hydrometrocolpos
ureteral reflux

Head And Neck Ears:
hearing loss
large protruding ears

Skeletal Limbs:
multiple exostoses of long tubular bones
perthes-like femoral head changes
predisposition to fracture
hyperextensible joints

Skin Nails Hair Nails:
brittle nails

Head And Neck Head:
microcephaly

Head And Neck Nose:
bulbous nose
broad nasal bridge
prominent philtrum
tented, thickened alae nasi

Skeletal Hands:
syndactyly
cone-shaped epiphyses of phalanges

Chest Ribs Sternum Clavicles And Scapulae:
rib exostoses
scapulae exostoses
winged scapulae

Neurologic Central Nervous System:
hypotonia
mental retardation
delayed speech development

Growth Height:
postnatal onset of mild growth retardation

Skin Nails Hair Skin:
redundant skin in infancy
nevi

Laboratory Abnormalities:
chromosome deletion extending from 8q24.11 to 8q24.13

Clinical features from OMIM:

150230

Symptoms:

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

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

27
# 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:

47
# 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 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
2 Antiviral Agents Phase 2
3 Vaccines Phase 2,Phase 1
4 Anti-Infective Agents Phase 2
5 Adjuvants, Immunologic Phase 2
6 Immunologic Factors Phase 2,Phase 1
7 Anti-Retroviral Agents Phase 2
8 Interleukin-2 Phase 2
9 Anti-HIV Agents Phase 2
10 Freund's Adjuvant Phase 2
11
carbamide peroxide Approved Phase 1 124-43-6
12
Benzocaine Approved, Investigational Not Applicable 94-09-7, 1994-09-7 2337
13
tannic acid Approved Not Applicable 1401-55-4
14 Hemostatics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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 Not Applicable

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:

# Genetic test Affiliating Genes
1 Langer-Giedion Syndrome 30

Anatomical Context for Trichorhinophalangeal Syndrome, Type Ii

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

42
Skin, Bone, Eye, Pancreas

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

20
Epiphysis

Publications for Trichorhinophalangeal Syndrome, Type Ii

Articles related to Trichorhinophalangeal Syndrome, Type Ii:

(show top 50) (show all 78)
# Title Authors Year
1
Case of meningothelial hamartoma with dermal melanocytosis in a patient with trichorhinophalangeal syndrome type II. ( 29679406 )
2018
2
High-functioning autism in a Sri Lankan youth with Langer-Giedion syndrome. ( 29538090 )
2018
3
Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures. ( 28493010 )
2017
4
Trichorhinophalangeal syndrome type II presenting with short stature in a child. ( 27869420 )
2016
5
Langer-Giedion Syndrome: a Rare Case Report. ( 27602401 )
2016
6
An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4. ( 26269715 )
2015
7
Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion. ( 26673557 )
2015
8
Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1. ( 26522117 )
2015
9
Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4. ( 26430469 )
2015
10
Langer-Giedion syndrome associated with congenital dural arterio-venous fistula. ( 25293531 )
2015
11
Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis. ( 24909397 )
2014
12
Langer-Giedion syndrome: the evolving imaging features in hands and beyond. ( 24072254 )
2014
13
Prenatal diagnosis of Langer-Giedion Syndrome confirmed by BACs-on-Beads technique. ( 24505968 )
2014
14
Traumatic bone cyst of the mandible in Langer-Giedion syndrome: a case report. ( 25421062 )
2014
15
Langer-giedion syndrome: a distinct phenotype. ( 25793078 )
2014
16
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. ( 24357330 )
2013
17
An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family. ( 23832104 )
2013
18
Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. ( 23913778 )
2013
19
Unanticipated subglottic stenosis complicating airway management of a child with Langer-Giedion syndrome. ( 24004157 )
2013
20
An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy. ( 23933416 )
2013
21
Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion. ( 22315192 )
2012
22
Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion. ( 21948702 )
2011
23
Severe muscle weakness to necessitate rehabilitation in a case of trichorhinophalangeal syndrome type II. ( 18759793 )
2009
24
Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). ( 19012352 )
2008
25
Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis. ( 17688470 )
2007
26
Langer-Giedion Syndrome. ( 16528117 )
2006
27
Lower eyelid entropion in Langer-Giedion syndrome. ( 16418671 )
2006
28
Langer-giedion syndrome with renal cyst. ( 15758548 )
2005
29
Tetraparesis due to exostotic osteochondroma at upper cervical cord in a patient with multiple exostoses-mental retardation syndrome (Langer-Giedion syndrome). ( 15583707 )
2005
30
Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency. ( 15523607 )
2004
31
Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome). ( 12165224 )
2001
32
An integrated physical map of 8q22-q24: use in positional cloning and deletion analysis of Langer-Giedion syndrome. ( 11161813 )
2001
33
Trichorhinophalangeal syndrome type II: case report. ( 10944842 )
2000
34
Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q. ( 10398269 )
1999
35
The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 gene. ( 10647903 )
1999
36
Langer-Giedion syndrome associated with submucous cleft palate. ( 10190443 )
1999
37
Langer-Giedion syndrome associated with submucous cleft palate. ( 11149806 )
1999
38
Langer-Giedion syndrome. A patient without mental retardation and a large 8q23.2-q24.22 deletion. ( 10783592 )
1999
39
Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. ( 10647898 )
1999
40
Langer-Giedion syndrome associated with scimitar syndrome. ( 10201043 )
1999
41
Lunatomalacia associated with congenital shortening of the ulna in Langer-Giedion syndrome: a case report. ( 9195447 )
1997
42
Assignment of fragile site 8E (FRA8E) to human chromosome band 8q24.11 adjacent to the hereditary multiple exostoses 1 gene and two overlapping Langer-Giedion syndrome deletion endpoints. ( 9345908 )
1997
43
Conductive hearing loss in the tricho-rhino-phalangeal syndrome (TRP II) or in the Langer-Giedion syndrome. ( 9332674 )
1997
44
Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. ( 7711731 )
1995
45
A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1). ( 8530105 )
1995
46
Mapping of the bone morphogenetic protein 1 gene (BMP1) to 8p21: removal of BMP1 from candidacy for the bone disorder in Langer-Giedion syndrome. ( 8404039 )
1993
47
The orthopaedic manifestations of the Langer-Giedion syndrome. ( 1565510 )
1992
48
Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome. ( 1684953 )
1991
49
Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. ( 1836105 )
1991
50
Haematometra in the Langer-Giedion syndrome. ( 1956070 )
1991

Variations for Trichorhinophalangeal Syndrome, Type Ii

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome, Type Ii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EXT1 NM_000127.2(EXT1): c.1360G> A (p.Val454Ile) single nucleotide variant Likely benign rs201504622 GRCh37 Chromosome 8, 118834761: 118834761
2 EXT1 NM_000127.2(EXT1): c.1360G> A (p.Val454Ile) single nucleotide variant Likely benign rs201504622 GRCh38 Chromosome 8, 117822522: 117822522
3 EXT1 NM_000127.2(EXT1): c.-642G> A single nucleotide variant Likely benign rs534171475 GRCh37 Chromosome 8, 119123927: 119123927
4 EXT1 NM_000127.2(EXT1): c.-642G> A single nucleotide variant Likely benign rs534171475 GRCh38 Chromosome 8, 118111688: 118111688

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

7
# 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:

# 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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