TRPS
MCID: TRC031
MIFTS: 40

Trichorhinophalangeal Syndrome (TRPS)

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

Aliases & Classifications for Trichorhinophalangeal Syndrome

MalaCards integrated aliases for Trichorhinophalangeal Syndrome:

Name: Trichorhinophalangeal Syndrome 24 58 36 6 71
Tricho-Rhino-Phalangeal Syndrome 24
Trps 24

Characteristics:

GeneReviews:

24
Penetrance No instances of reduced penetrance have been reported; thus, penetrance is believed to be 100% [lüdecke et al 2001].

Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

KEGG 36 H00977
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C0265255
Orphanet 58 ORPHA324764
UMLS 71 C0265255

Summaries for Trichorhinophalangeal Syndrome

KEGG : 36 Trichorhinophalangeal syndromes (TRPS) is a rare peripheral dysostosis with mainly autosomal dominant inheritance. Three different forms of TRPS are known: type I (TRPS1), type II (TRPS2) and type III (TRPS3). They are characterized by sparse hair, bulbous pear-shaped nose, long and flat philtrum, thin upper lip, and protruding ears. Skeletal abnormalities that are frequently observed include epiphyses of the middle phalanges with shortened metacarpals, hip malformations, and short stature. The causative gene is TRPS1 that was shown to be a regulator of the Wnt signaling pathway in mouse.

MalaCards based summary : Trichorhinophalangeal Syndrome, also known as tricho-rhino-phalangeal syndrome, is related to trichorhinophalangeal syndrome, type i and trichorhinophalangeal syndrome, type iii. An important gene associated with Trichorhinophalangeal Syndrome is TRPS1 (Transcriptional Repressor GATA Binding 1). The drugs Acetylcholine and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include breast, bone and skin, and related phenotype is Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation.

GeneReviews: NBK425926

Related Diseases for Trichorhinophalangeal Syndrome

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 395)
# Related Disease Score Top Affiliating Genes
1 trichorhinophalangeal syndrome, type i 33.4 TRPS1 EXT1
2 trichorhinophalangeal syndrome, type iii 33.3 TRPS1 EXT1
3 trichorhinophalangeal syndrome, type ii 32.8 TRPS1 RAD21 EXT1
4 cornelia de lange syndrome 29.8 TRPS1 RAD21
5 hereditary multiple exostoses 28.9 TRPS1 EXT1
6 cornelia de lange syndrome 4 with or without midline brain defects 28.9 TRPS1 RAD21 EXT1
7 trichorhinophalangeal syndrome type 1 and 3 12.3
8 exostoses, multiple, type i 11.6
9 triiodothyronine receptor auxiliary protein 10.7
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
11 helix syndrome 10.6
12 respiratory failure 10.5
13 alopecia 10.4
14 rapidly involuting congenital hemangioma 10.4
15 brachydactyly 10.4
16 coxa vara 10.4
17 marfan syndrome 10.4
18 osteoporosis 10.4
19 ruvalcaba syndrome 10.4
20 spondylolisthesis 10.4
21 odontochondrodysplasia 10.4
22 vesicoureteral reflux 1 10.4
23 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.4
24 brittle bone disorder 10.4
25 bone mineral density quantitative trait locus 8 10.4
26 pseudopseudohypoparathyroidism 10.4
27 bone mineral density quantitative trait locus 15 10.4
28 juvenile arthritis 10.4
29 fibroma 10.4
30 neonatal respiratory failure 10.4
31 nephrotic syndrome 10.4
32 gonadal dysgenesis 10.4
33 branchiootorenal syndrome 10.4
34 ossifying fibroma 10.4
35 dental caries 10.4
36 familial nephrotic syndrome 10.4
37 cystic kidney disease 10.4
38 turner syndrome 10.4
39 pseudohypoparathyroidism 10.4
40 kidney disease 10.4
41 nephrolithiasis 10.4
42 mitral valve disease 10.4
43 juvenile rheumatoid arthritis 10.4
44 osteochondrosis 10.4
45 osteochondritis dissecans 10.4
46 arthritis 10.4
47 hypoglycemia 10.4
48 aminoaciduria 10.4
49 dwarfism 10.4
50 partial deletion of the long arm of chromosome 8 10.4

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



Diseases related to Trichorhinophalangeal Syndrome

Symptoms & Phenotypes for Trichorhinophalangeal Syndrome

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.62 EXT1 RAD21

Drugs & Therapeutics for Trichorhinophalangeal Syndrome

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational 51-84-3 187
2
Ethanol Approved 64-17-5 702
3
Sulfamethazine Approved, Investigational, Vet_approved 57-68-1 5327
4
tannic acid Approved 1401-55-4
5
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
6 abobotulinumtoxinA
7 Cholinergic Agents
8 Botulinum Toxins, Type A
9 Botulinum Toxins
10 Neurotransmitter Agents

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Effects of Cervical and Thoracic Manipulative Techniques Combined With OnabotulinumtoxinA Prophylaxis in the Management of Chronic Migraine: a Pilot Single-blind Randomized Controlled Trial Unknown status NCT02953015 OnabotulinumtoxinA (Prophylaxis therapy)
2 Treatment of Chronic Myofascial Pain Syndrome Over Neck by Using Intravascular Laser Irradiation of Blood Unknown status NCT02470000
3 MANUAL TREATMENT OF ACTIVE TRIGGER POINTS IN THE STERNOCLEIDOMASTOID MUSCLE IN PATIENTS WITH CERVICOGENIC HEADACHE: A PILOT RANDOMIZED CLINICAL TRIAL Completed NCT01790074
4 Assessing the Impact of Medication Management Review Service for Females Diagnosed With Depression and Anxiety Completed NCT04082871
5 Clinical Outcomes After Dry Needling on Cervical Muscles, Quality of Life, Fatigue, Quality of Sleep, Anxiety and Depression in Patients With Fibromyalgia Syndrome. Completed NCT03015662
6 Cost-benefit Analysis of a Clinical Pharmacist Intervention in Preventing Adverse Drug Events in the General Chronic Diseases Outpatients Completed NCT03803033
7 EFFECTIVENESS OF THE INCLUSION OF TRIGGER POINT DRY NEEDLING INTO A MULTIMODAL PHYSICAL THERAPY PROGRAM FOR POST-OPERATIVE SHOULDER PAIN Completed NCT02122315
8 A Randomized Trial of Trigger Point Dry Needling Versus Sham Needling for Chronic Tension-Type Headache Completed NCT03500861
9 Effectiveness of Dry Needling and Eccentric Exercises in Unspecific Shoulder Pain Completed NCT02338908
10 Neurophysiological, Biomechanical and Clinical Effects of Dry Needling Versus Sham Needling When Applied to the Infraspinatus Muscle in People With Chronic Shoulder Pain: a Randomized Pilot Study Completed NCT04316793
11 Determining the Effect of a Combination of Muscle Energy Techniques and Trigger Point Therapy on Subjective and Objective Indicators Assessing the Condition of the Musculoskeletal System in Asymptomatic Persons With Latent Trigger Point Completed NCT04360668
12 Compare the Effects of Two Manual Treatment Regimens on Individuals With Upper Trapezius Trigger Points Completed NCT04157439
13 Electromyographic´s Differences Between Dry Needling in Latent Myofascial Trigger Point in Tonic or Phasic Skeletal Muscle Fibers of Trapezius Recruiting NCT03813485
14 Electromyographic Changes in the Cranio-Cervical Flexion Test After Dry Needling of the Upper Trapezius Muscle in Patients With Mechanical Neck Pain Recruiting NCT03787706
15 Evaluation of Text Neck Syndrome and Hand Grip Force in Smart Phone Addiction Among Students of Jazan University Recruiting NCT03757520

Search NIH Clinical Center for Trichorhinophalangeal Syndrome

Genetic Tests for Trichorhinophalangeal Syndrome

Anatomical Context for Trichorhinophalangeal Syndrome

MalaCards organs/tissues related to Trichorhinophalangeal Syndrome:

40
Breast, Bone, Skin, Brain, Testes, Skeletal Muscle, Kidney

Publications for Trichorhinophalangeal Syndrome

Articles related to Trichorhinophalangeal Syndrome:

(show top 50) (show all 1021)
# Title Authors PMID Year
1
Syndromes with supernumerary teeth. 24 61
27250821 2016
2
Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I. 24 61
27267340 2016
3
Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency? 24 61
26540763 2015
4
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 24 61
25792522 2015
5
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene. 61 24
24886451 2014
6
Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates. 24 61
24357341 2014
7
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling. 61 24
23572024 2014
8
Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features. 61 24
24448126 2014
9
Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression. 61 24
23835950 2013
10
An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy. 24 61
23933416 2013
11
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. 24 61
22964620 2012
12
Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I. 24 61
21524721 2011
13
A novel mutation in TPRS1 gene caused tricho-rhino-phalangeal syndrome in a Chinese patient with severe osteoporosis. 61 24
21740822 2011
14
Improved growth and bone mineral density in type I trichorhinophalangeal syndrome in response to growth hormone therapy. 24 61
20569260 2010
15
Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). 24 61
19012352 2008
16
Tricho-rhino-phalangeal syndrome with supernumerary teeth. 61 24
18946009 2008
17
Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome. 61 24
18478599 2008
18
Trichorhinophalangeal syndrome. 61 24
16243138 2005
19
[Surgical therapy of cone-shaped epiphyses of the proximal interphalangeal joints in tricho-rhino-phalangeal syndrome type I: a survey among three successive generations of a single family]. 24 61
15616909 2004
20
Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency. 61 24
15523607 2004
21
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 61 24
11112658 2001
22
Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. 61 24
10647898 1999
23
Management of nerve compression in multiple hereditary exostoses: a report of two cases and review of the literature. 24
27444292 2016
24
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. 24
25125236 2014
25
RAD21 mutations cause a human cohesinopathy. 24
22633399 2012
26
Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood. 24
20635356 2010
27
Hereditary multiple exostoses. 24
1856833 1991
28
Langer-Giedion syndrome. 24
4549298 1974
29
Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. 24
4723882 1973
30
Tricho-rhino-phalangeal syndrome. 24
5820605 1969
31
[Tricho-rhino-phalangeal syndrome]. 24
5991804 1966
32
The syndrome of brachymetacarpal dwarfism (pseudo-pseudohypoparathyroidism) with and without gonadal dysgenesis. 24
13621640 1959
33
Phylogenetics Identifies Two Eumetazoan TRPM Clades and an Eighth TRP Family, TRP Soromelastatin (TRPS). 61
32159767 2020
34
Thermo-TRPs and gut microbiota are involved in thermogenesis and energy metabolism during low temperature exposure of obese mice. 61
32341176 2020
35
Electromyographic Activity Evolution of Local Twitch Responses During Dry Needling of Latent Trigger Points in the Gastrocnemius Muscle: A Cross-Sectional Study. 61
31361323 2020
36
Neck associated factors related to migraine in adolescents with painful temporomandibular disorders. 61
32529877 2020
37
Myofascial pain, widespread pressure hypersensitivity, and hyperalgesia in the face, neck, and shoulder regions, in survivors of head and neck cancer. 61
31754834 2020
38
Post-needling soreness and trigger point dry needling for hemiplegic shoulder pain following stroke. 61
32009422 2020
39
A non-coding RNA controls transcription of a gene encoding a DNA binding protein that modulates biofilm development in Bartonella henselae. 61
32464301 2020
40
Polynuclear Ruthenium Amines Inhibit K2P Channels via a "Finger in the Dam" Mechanism. 61
32059793 2020
41
[Importance of Transient Receptor Potential Channels of the Ocular Surface: Insights and Outlook - from Laboratory Research to Clinical Practice]. 61
32289850 2020
42
Viscero-visceral hyperalgesia in dysmenorrhoea plus previous urinary calculosis: Role of myofascial trigger points and their injection treatment in the referred area. 61
32034979 2020
43
Active Muscle Trigger Points Are Associated with Pain and Related Disability in Patients with Plantar Heel Pain: A Case-Control Study. 61
30986304 2020
44
The effect of growth hormone treatment in a child with tricho-rhino-phalangeal syndrome: A case report and review of the literature. 61
31884116 2020
45
TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology. 61
32347565 2020
46
Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4. 61
32296131 2020
47
Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion. 61
31976145 2020
48
Tuberous Sclerosis Complex Axis Controls Renal Extracellular Vesicle Production and Protein Content. 61
32138326 2020
49
Carvacrol effectively protects demyelination by suppressing transient receptor potential melastatin 7 (TRPM7) in Schwann cells. 61
31848974 2020
50
Effects of dry needling of active trigger points in the scalene muscles in individuals with mechanical neck pain: a randomized clinical trial. 61
32228029 2020

Variations for Trichorhinophalangeal Syndrome

ClinVar genetic disease variations for Trichorhinophalangeal Syndrome:

6 (show top 50) (show all 139) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRPS1 NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe)SNV Conflicting interpretations of pathogenicity 286562 rs148023627 8:116426808-116426808 8:115414580-115414580
2 TRPS1 NM_014112.5(TRPS1):c.2976G>A (p.Pro992=)SNV Conflicting interpretations of pathogenicity 361609 rs201030937 8:116427160-116427160 8:115414932-115414932
3 TRPS1 NM_014112.5(TRPS1):c.*1843deldeletion Uncertain significance 361584 rs886062619 8:116424408-116424408 8:115412180-115412180
4 TRPS1 NM_014112.5(TRPS1):c.-237C>TSNV Uncertain significance 361638 rs886062627 8:116680887-116680887 8:115668660-115668660
5 TRPS1 NM_014112.5(TRPS1):c.-318_-317CT[9]short repeat Uncertain significance 361641 rs10546472 8:116680945-116680950 8:115668718-115668723
6 TRPS1 NM_014112.5(TRPS1):c.1687T>A (p.Tyr563Asn)SNV Uncertain significance 361622 rs886062623 8:116616509-116616509 8:115604282-115604282
7 TRPS1 NM_014112.5(TRPS1):c.422C>T (p.Pro141Leu)SNV Uncertain significance 361631 rs201699015 8:116631903-116631903 8:115619676-115619676
8 TRPS1 NM_014112.5(TRPS1):c.206A>G (p.His69Arg)SNV Uncertain significance 361632 rs886062624 8:116632119-116632119 8:115619892-115619892
9 TRPS1 NM_014112.5(TRPS1):c.-139T>ASNV Uncertain significance 361635 rs886062625 8:116680789-116680789 8:115668562-115668562
10 TRPS1 NM_014112.5(TRPS1):c.-306C>TSNV Uncertain significance 361643 rs886062630 8:116680956-116680956 8:115668729-115668729
11 TRPS1 NM_014112.5(TRPS1):c.-320T>CSNV Uncertain significance 361645 rs368254331 8:116680970-116680970 8:115668743-115668743
12 TRPS1 NM_014112.5(TRPS1):c.-382deldeletion Uncertain significance 361646 rs886062631 8:116681032-116681032 8:115668805-115668805
13 TRPS1 NM_014112.5(TRPS1):c.*4751T>GSNV Uncertain significance 361522 rs73705184 8:116421500-116421500 8:115409272-115409272
14 TRPS1 NM_014112.5(TRPS1):c.*2752_*2754deldeletion Uncertain significance 361562 rs886062612 8:116423497-116423499 8:115411269-115411271
15 TRPS1 NM_014112.5(TRPS1):c.*4741deldeletion Uncertain significance 361524 rs886062604 8:116421510-116421510 8:115409282-115409282
16 TRPS1 NM_014112.5(TRPS1):c.*1121G>TSNV Uncertain significance 361590 rs886062620 8:116425130-116425130 8:115412902-115412902
17 TRPS1 NM_014112.5(TRPS1):c.*3538deldeletion Uncertain significance 369687 rs547899966 8:116422713-116422713 8:115410485-115410485
18 TRPS1 NM_014112.5(TRPS1):c.*4105A>GSNV Uncertain significance 361542 rs886062606 8:116422146-116422146 8:115409918-115409918
19 TRPS1 NM_014112.5(TRPS1):c.*2882T>CSNV Uncertain significance 361556 rs886062611 8:116423369-116423369 8:115411141-115411141
20 TRPS1 NM_014112.5(TRPS1):c.*2317C>TSNV Uncertain significance 361572 rs886062616 8:116423934-116423934 8:115411706-115411706
21 TRPS1 NM_014112.5(TRPS1):c.*2405A>GSNV Uncertain significance 361569 rs886062614 8:116423846-116423846 8:115411618-115411618
22 TRPS1 NM_014112.5(TRPS1):c.*2378A>CSNV Uncertain significance 361570 rs771199526 8:116423873-116423873 8:115411645-115411645
23 TRPS1 NM_014112.5(TRPS1):c.*2329A>GSNV Uncertain significance 361571 rs886062615 8:116423922-116423922 8:115411694-115411694
24 TRPS1 NM_014112.5(TRPS1):c.*2290C>TSNV Uncertain significance 361573 rs371611414 8:116423961-116423961 8:115411733-115411733
25 TRPS1 NM_014112.5(TRPS1):c.*1983_*1984insGinsertion Uncertain significance 361581 rs886062618 8:116424267-116424268 8:115412039-115412040
26 TRPS1 NM_014112.5(TRPS1):c.603A>G (p.Gln201=)SNV Uncertain significance 361628 rs756604086 8:116631722-116631722 8:115619495-115619495
27 TRPS1 NM_014112.5(TRPS1):c.*3338C>TSNV Uncertain significance 361550 rs886062609 8:116422913-116422913 8:115410685-115410685
28 TRPS1 NM_014112.5(TRPS1):c.*2740deldeletion Uncertain significance 361563 rs879823190 8:116423511-116423511 8:115411283-115411283
29 TRPS1 NM_014112.5(TRPS1):c.*4845_*4847ATA[1]short repeat Uncertain significance 361517 rs775143556 8:116421401-116421403 8:115409173-115409175
30 TRPS1 NM_014112.5(TRPS1):c.*684T>CSNV Uncertain significance 361592 rs753393164 8:116425567-116425567 8:115413339-115413339
31 TRPS1 NM_014112.5(TRPS1):c.*522G>TSNV Uncertain significance 361595 rs886062621 8:116425729-116425729 8:115413501-115413501
32 TRPS1 NM_014112.5(TRPS1):c.2662G>A (p.Glu888Lys)SNV Uncertain significance 361612 rs886062622 8:116599266-116599266 8:115587039-115587039
33 TRPS1 NM_014112.5(TRPS1):c.1902C>G (p.Phe634Leu)SNV Uncertain significance 361619 rs770442142 8:116616294-116616294 8:115604067-115604067
34 TRPS1 NM_014112.5(TRPS1):c.-157G>CSNV Uncertain significance 361636 rs886062626 8:116680807-116680807 8:115668580-115668580
35 TRPS1 NM_014112.5(TRPS1):c.-258G>ASNV Uncertain significance 361639 rs886062628 8:116680908-116680908 8:115668681-115668681
36 TRPS1 NM_014112.5(TRPS1):c.-320_-319deldeletion Uncertain significance 361644 rs199575103 8:116680969-116680970 8:115668742-115668743
37 TRPS1 NM_014112.5(TRPS1):c.*4754_*4761dupduplication Uncertain significance 361520 rs755990611 8:116421489-116421490 8:115409261-115409262
38 TRPS1 NM_014112.5(TRPS1):c.*4741G>TSNV Uncertain significance 361526 rs796323588 8:116421510-116421510 8:115409282-115409282
39 TRPS1 NM_014112.5(TRPS1):c.*4628T>CSNV Uncertain significance 361532 rs886062605 8:116421623-116421623 8:115409395-115409395
40 TRPS1 NM_014112.5(TRPS1):c.*2229G>ASNV Uncertain significance 361575 rs886062617 8:116424022-116424022 8:115411794-115411794
41 TRPS1 NM_014112.5(TRPS1):c.*3268T>CSNV Uncertain significance 361551 rs886062610 8:116422983-116422983 8:115410755-115410755
42 TRPS1 NM_014112.5(TRPS1):c.*338deldeletion Uncertain significance 361603 rs530055629 8:116425913-116425913 8:115413685-115413685
43 TRPS1 NM_014112.5(TRPS1):c.*1501A>GSNV Uncertain significance 361586 rs763013243 8:116424750-116424750 8:115412522-115412522
44 TRPS1 NM_014112.5(TRPS1):c.-318_-317CT[13]short repeat Uncertain significance 361640 rs10546472 8:116680944-116680945 8:115668717-115668718
45 TRPS1 NM_014112.5(TRPS1):c.-393_-392dupduplication Uncertain significance 361647 rs759303878 8:116681041-116681042 8:115668814-115668815
46 TRPS1 NM_014112.5(TRPS1):c.-487A>CSNV Uncertain significance 361649 rs886062633 8:116681137-116681137 8:115668910-115668910
47 TRPS1 NM_014112.5(TRPS1):c.*4104G>ASNV Uncertain significance 361544 rs886062607 8:116422147-116422147 8:115409919-115409919
48 TRPS1 NM_014112.5(TRPS1):c.*4747T>GSNV Uncertain significance 361523 rs886062603 8:116421504-116421504 8:115409276-115409276
49 TRPS1 NM_014112.5(TRPS1):c.*4593_*4597AAAGG[1]short repeat Uncertain significance 361534 rs755682849 8:116421649-116421653 8:115409421-115409425
50 TRPS1 NM_014112.5(TRPS1):c.*3674T>CSNV Uncertain significance 361546 rs886062608 8:116422577-116422577 8:115410349-115410349

Expression for Trichorhinophalangeal Syndrome

Search GEO for disease gene expression data for Trichorhinophalangeal Syndrome.

Pathways for Trichorhinophalangeal Syndrome

GO Terms for Trichorhinophalangeal Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 8.62 TRPS1 EXT1

Sources for Trichorhinophalangeal Syndrome

3 CDC
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