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TRPS
MCID: TRC031
MIFTS: 37

Trichorhinophalangeal Syndrome (TRPS)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Trichorhinophalangeal Syndrome

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MalaCards integrated aliases for Trichorhinophalangeal Syndrome:

Name: Trichorhinophalangeal Syndrome 25 58 36 6 70
Tricho-Rhino-Phalangeal Syndrome 25
Trps 25

Characteristics:

GeneReviews:

25
Penetrance No instances of reduced penetrance have been reported; thus, penetrance is believed to be 100% [lüdecke et al 2001].

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Bone diseases Skin diseases Neuronal diseases Ear diseases Smell/Taste diseases
See all MalaCards categories (disease lists)
ICD10: 33
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 71 C0265255
Orphanet 58 ORPHA324764
UMLS 70 C0265255
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Summaries for Trichorhinophalangeal Syndrome

About this section
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 Magnesium Sulfate and Anti-Arrhythmia Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and kidney, and related phenotype is Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation.

GeneReviews: NBK425926
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Related Diseases for Trichorhinophalangeal Syndrome

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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 112)
# Related Disease Score Top Affiliating Genes
1 trichorhinophalangeal syndrome, type i 32.1 TRPS1 EXT1
2 trichorhinophalangeal syndrome, type iii 32.0 TRPS1 EXT1
3 trichorhinophalangeal syndrome, type ii 31.7 TRPS1 RAD21 EXT1
4 cornelia de lange syndrome 4 with or without midline brain defects 29.1 TRPS1 RAD21 EXT1
5 cornelia de lange syndrome 29.1 TRPS1 RAD21 EXT1
6 hereditary multiple exostoses 29.1 TRPS1 EXT1
7 trichorhinophalangeal syndrome type 1 and 3 11.1
8 exostoses, multiple, type i 11.1
9 alopecia 10.4
10 brachydactyly 10.3
11 growth hormone deficiency 10.2
12 coxa vara 10.2
13 marfan syndrome 10.2
14 osteoporosis 10.2
15 ruvalcaba syndrome 10.2
16 spondylolisthesis 10.2
17 vesicoureteral reflux 1 10.2
18 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.2
19 hydrocephalus, congenital, 1 10.2
20 brittle bone disorder 10.2
21 bone mineral density quantitative trait locus 8 10.2
22 pseudopseudohypoparathyroidism 10.2
23 bone mineral density quantitative trait locus 15 10.2
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
25 okur-chung neurodevelopmental syndrome 10.2
26 fibroma 10.2
27 parkinsonism 10.2
28 respiratory failure 10.2
29 nephrotic syndrome 10.2
30 gonadal dysgenesis 10.2
31 branchiootorenal syndrome 10.2
32 ossifying fibroma 10.2
33 dental caries 10.2
34 familial nephrotic syndrome 10.2
35 cystic kidney disease 10.2
36 turner syndrome 10.2
37 pseudohypoparathyroidism 10.2
38 kidney disease 10.2
39 nephrolithiasis 10.2
40 mitral valve disease 10.2
41 juvenile rheumatoid arthritis 10.2
42 osteochondrosis 10.2
43 osteochondritis dissecans 10.2
44 hypoglycemia 10.2
45 aminoaciduria 10.2
46 dwarfism 10.2
47 partial deletion of the long arm of chromosome 8 10.2
48 renal dysplasia 10.2
49 osteochondrodysplasia 10.2
50 legg-calve-perthes disease 10.1

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



Diseases related to Trichorhinophalangeal Syndrome
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Symptoms & Phenotypes for Trichorhinophalangeal Syndrome

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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
Sources

Drugs & Therapeutics for Trichorhinophalangeal Syndrome

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

(show top 50) (show all 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
2 Anti-Arrhythmia Agents Phase 4
3 Anesthetics Phase 4
4 Anticonvulsants Phase 4
5 Hormones Phase 4
6 Tocolytic Agents Phase 4
7 calcium channel blockers Phase 4
8 Calcium, Dietary Phase 4
9 Analgesics Phase 4
10
Calcium Nutraceutical Phase 4 7440-70-2 271
11
Aldesleukin Approved Phase 2 110942-02-4, 85898-30-2
12
Ranibizumab Approved Phase 2 347396-82-1 459903
13 Anti-Infective Agents Phase 2
14 Adjuvants, Immunologic Phase 2
15 Anti-Retroviral Agents Phase 2
16 Vaccines Phase 2
17 Anti-HIV Agents Phase 2
18 Freund's Adjuvant Phase 2
19 Antiviral Agents Phase 2
20 Immunologic Factors Phase 2
21 Interleukin-2 Phase 2
22 Angiogenesis Inhibitors Phase 2
23
Acetylcholine Approved, Investigational 51-84-3 187
24
carbamide peroxide Approved 124-43-6
25
Ethanol Approved 64-17-5 702
26
Sodium citrate Approved, Investigational 68-04-2
27
Zinc Approved, Investigational 7440-66-6 32051
28
Capsaicin Approved 404-86-4 1548943
29
Taurine Approved, Nutraceutical 107-35-7 1123
30
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
31
Glutamic acid Approved, Nutraceutical 56-86-0 33032
32
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
33
Tryptophan Approved, Nutraceutical, Withdrawn 73-22-3 6305
34
Piperine Investigational 94-62-2 638024
35 abobotulinumtoxinA
36 Cholinergic Agents
37 Botulinum Toxins, Type A
38 Neurotransmitter Agents
39 Botulinum Toxins
40 glutamine
41 Caproate
42 Pharmaceutical Solutions
43 Citrate
44 Cinnamic aldehyde
45 Chelating Agents
46 Protective Agents
47 Dermatologic Agents
48 Anticoagulants
49 Cytochrome P-450 Enzyme Inhibitors
50 Psychotropic Drugs

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Magnesium Sulphate Injection in Treatment of Myofascial Trigger Points in Masseter Muscle Recruiting NCT04742140 Phase 4 Magnesium sulfate;Saline
2 Robotic Brace Incorporating EMG for Moderate Affected Arm Impairment After Stroke Unknown status NCT01322997 Phase 1, Phase 2
3 A Randomized Trial to Compare Time to Common Toxicity Criteria for Adverse Effect (CTC AEC) 3.0 Grade. 3 Treatment Related Pneumonitis (TRP) in Patients With Locally Advanced Non-Small Cell Lung Carcinoma (NSCLC) Receiving Concurrent Chemoradiation Radiation Treated With 3-Dimensional Conformal Radiation Therapy (3D CRT, ARM 1) Versus Intensity Modulated Radiation Therapy (IMRT, ARM 2) Using 4-Dimensional CT Planning and Image Guided Adaptive Radiation Therapy (IGART) Completed NCT00520702 Phase 2
4 Immunization of HLA-0201 Positive Patients With Metastatic Melanoma Using a Peptide From Tyrosinase-related Protein 2 (TRP-2) Completed NCT00022438 Phase 2
5 A Randomized, Active-Controlled, Phase II Study of the Efficacy and Tolerability of Intravitreal Injections of Ranibizumab Compared to Intravitreal Injections of Ranibizumab Combined With Targeted Retinal Photocoagulation in Subjects With Radiation Retinopathy (RRR Study). Completed NCT02222610 Phase 2 0.5 mg ranibizumab
6 Electromyographic´s Differences Between Dry Needling in Latent Myofascial Trigger Point in Tonic or Phasic Skeletal Muscle Fibers of Trapezius Unknown status NCT03813485
7 Efficacy Study of the Medical Device TRP Snorless™ in the Treatment of Snoring Unknown status NCT03222193
8 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)
9 Study on Metabolic Processes and Cognitive Functions in Adults and Adolescents With Autism Spectrum Disorder Unknown status NCT02733120
10 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
11 Assessing the Impact of Medication Management Review Service for Females Diagnosed With Depression and Anxiety Completed NCT04082871
12 Cost-benefit Analysis of a Clinical Pharmacist Intervention in Preventing Adverse Drug Events in the General Chronic Diseases Outpatients Completed NCT03803033
13 MANUAL TREATMENT OF ACTIVE TRIGGER POINTS IN THE STERNOCLEIDOMASTOID MUSCLE IN PATIENTS WITH CERVICOGENIC HEADACHE: A PILOT RANDOMIZED CLINICAL TRIAL Completed NCT01790074
14 A Randomized Trial of Trigger Point Dry Needling Versus Sham Needling for Chronic Tension-Type Headache Completed NCT03500861
15 Effectiveness of Dry Needling and Eccentric Exercises in Unspecific Shoulder Pain Completed NCT02338908
16 Improving Syrian Refugees' Knowledge of Medications and Adherence Following a Randomized Control Trial Assessing the Effect of a Medication Management Review Service Completed NCT04554810
17 EFFECTIVENESS OF THE INCLUSION OF TRIGGER POINT DRY NEEDLING INTO A MULTIMODAL PHYSICAL THERAPY PROGRAM FOR POST-OPERATIVE SHOULDER PAIN Completed NCT02122315
18 Identification of Transient Receptor Potential (TRP) Channels as New Potential Therapeutic Targets in Primary and Secondary Raynaud's Phenomenon. Completed NCT03211325
19 Evaluation of Text Neck Syndrome and Hand Grip Force in Smart Phone Addiction Among Students of Jazan University Completed NCT03757520
20 Efficacy Of Different Types Of Physiotherapy Approaches In Temporomandibular Disorders Completed NCT04294602
21 Ischemic Compression Compared With Dry Needling as a Treatment of Myofascial Trigger Points in the Neck Region in Office Workers. Completed NCT02301468
22 Effect of High- Power Pain Threshold Ultrasound Versus Extracorporeal Shock Wave on Myoelectric Activity of Upper Trapezius Myofascial Trigger Point Recruiting NCT04778462
23 Effect of Acupuncture on Crohn's Disease Via the Regulation of Trp-kyn Metabolism in Brain-gut Axis Recruiting NCT04211129
24 Effect of Acupuncture on Crohn's Disease Via the Regulation of Trp-kyn Metabolism in Brain-gut Axis Recruiting NCT04187820
25 Subacute Effect of Pharmacological Sensory Stimulation of the Oropharynx by Agonists of TRP Receptors in Swallowing Neurophysiology in the Elderly With Oropharyngeal Dysphagia. Recruiting NCT04741620
26 Effect of the Quality of Dietary Proteins on the Sleep Young Elite Athletes and the Obese Adolescent Recruiting NCT04041934
27 Tryptophan Depletion in Parkinson's Disease Patients Treated With Deep Brain Stimulation of the Subthalamic Nucleus: Effects on Mood and Motor Functions Terminated NCT02632279

Search NIH Clinical Center for Trichorhinophalangeal Syndrome

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Genetic Tests for Trichorhinophalangeal Syndrome

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Anatomical Context for Trichorhinophalangeal Syndrome

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MalaCards organs/tissues related to Trichorhinophalangeal Syndrome:

40
Bone, Skeletal Muscle, Kidney, Subthalamic Nucleus, Smooth Muscle, Breast, Cervix
Sources

Publications for Trichorhinophalangeal Syndrome

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Articles related to Trichorhinophalangeal Syndrome:

(show top 50) (show all 1081)
# Title Authors PMID Year
1
Syndromes with supernumerary teeth. 25 61
27250821 2016
2
Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I. 61 25
27267340 2016
3
Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency? 61 25
26540763 2015
4
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25 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. 25 61
24886451 2014
6
Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates. 25 61
24357341 2014
7
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling. 61 25
23572024 2014
8
Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features. 25 61
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 25
23835950 2013
10
An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy. 61 25
23933416 2013
11
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. 61 25
22964620 2012
12
Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I. 25 61
21524721 2011
13
A novel mutation in TPRS1 gene caused tricho-rhino-phalangeal syndrome in a Chinese patient with severe osteoporosis. 25 61
21740822 2011
14
Improved growth and bone mineral density in type I trichorhinophalangeal syndrome in response to growth hormone therapy. 25 61
20569260 2010
15
Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). 25 61
19012352 2008
16
Tricho-rhino-phalangeal syndrome with supernumerary teeth. 61 25
18946009 2008
17
Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome. 25 61
18478599 2008
18
Trichorhinophalangeal syndrome. 25 61
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]. 25 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 25
15523607 2004
21
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 61 25
11112658 2001
22
Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. 61 25
10647898 1999
23
Management of nerve compression in multiple hereditary exostoses: a report of two cases and review of the literature. 25
27444292 2016
24
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. 25
25125236 2014
25
RAD21 mutations cause a human cohesinopathy. 25
22633399 2012
26
Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood. 25
20635356 2010
27
Hereditary multiple exostoses. 25
1856833 1991
28
Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. 25
4723882 1973
29
Tricho-rhino-phalangeal syndrome. 25
5820605 1969
30
[Tricho-rhino-phalangeal syndrome]. 25
5991804 1966
31
The syndrome of brachymetacarpal dwarfism (pseudo-pseudohypoparathyroidism) with and without gonadal dysgenesis. 25
13621640 1959
32
TRPS1: a highly sensitive and specific marker for breast carcinoma, especially for triple-negative breast cancer. 61
33011748 2021
33
Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study. 61
33662637 2021
34
Measuring particle size distribution and mass concentration of nanoplastics and microplastics: addressing some analytical challenges in the sub-micron size range. 61
33422789 2021
35
Electromyographic Analysis of Muscle Activation Patterns During Bovine Transrectal Palpation and the Development of the Bovine Pregnancy Diagnosis Improvement Exercise Program. 61
33657330 2021
36
Transient Receptor Potential (TRP) Channels in the Pacific Oyster (Crassostrea gigas): Genome-Wide Identification and Expression Profiling after Heat Stress between C. gigas and C. angulata. 61
33810107 2021
37
A possible role of tachykinin-related peptide on an immune system activity of mealworm beetle, Tenebrio molitor L. 61
33705792 2021
38
The mycoestrogen zeranol at high dosage antagonizes transient receptor potential channel activities in 3T3 L1 cells. 61
33689779 2021
39
Shell properties and concentration stability of acoustofluidic delivery agents. 61
33398637 2021
40
uPAR-expressing melanoma exosomes promote angiogenesis by VE-Cadherin, EGFR and uPAR overexpression and rise of ERK1,2 signaling in endothelial cells. 61
33237352 2021
41
Is Dry Needling Effective for the Management of Plantar Heel Pain or Plantar Fasciitis? An Updated Systematic Review and Meta-analysis. 61
33760098 2021
42
TRPS1 drives heterochromatic origin refiring and cancer genome evolution. 61
33691114 2021
43
Transient receptor potential (TRP) channels in human colorectal cancer: evidence and perspectives. 61
33528023 2021
44
Cardiac arrest in a patient with trichorhinophalangeal syndrome and dilated cardiomyopathy. 61
33542011 2021
45
Intrinsic sources of tachykinin-related peptide in the thoracic ganglion mass of the crab, Cancer borealis. 61
33275935 2021
46
Tryptophan Synthase: Biocatalyst Extraordinaire. 61
32677310 2021
47
Antinociceptive effect of triterpene acetyl aleuritolic acid isolated from Croton zehntneri in adult zebrafish (Danio rerio). 61
33261884 2021
48
Effects on Neuromuscular Function After Ischemic Compression in Latent Trigger Points in the Gastrocnemius Muscles: A Randomized Within-Participant Clinical Trial. 61
33431281 2021
49
Measuring particle concentration of multimodal synthetic reference materials and extracellular vesicles with orthogonal techniques: Who is up to the challenge? 61
33473263 2021
50
Systematic Design and Validation of Ion Channel Stabilization of Amphipathic α-Helical Peptides Incorporating Tryptophan Residues. 61
33553860 2021
Sources

Variations for Trichorhinophalangeal Syndrome

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ClinVar genetic disease variations for Trichorhinophalangeal Syndrome:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPS1 NM_014112.5(TRPS1):c.-318_-317CT[13] Microsatellite Uncertain significance 361640 rs10546472 GRCh37: 8:116680944-116680945
GRCh38: 8:115668717-115668718
2 TRPS1 NM_014112.5(TRPS1):c.*2752_*2754del Deletion Uncertain significance 361562 rs886062612 GRCh37: 8:116423497-116423499
GRCh38: 8:115411269-115411271
3 TRPS1 NM_014112.5(TRPS1):c.-382del Deletion Uncertain significance 361646 rs886062631 GRCh37: 8:116681032-116681032
GRCh38: 8:115668805-115668805
4 TRPS1 NM_014112.5(TRPS1):c.-487A>C SNV Uncertain significance 361649 rs886062633 GRCh37: 8:116681137-116681137
GRCh38: 8:115668910-115668910
5 TRPS1 NM_014112.5(TRPS1):c.*4741del Deletion Uncertain significance 361524 rs886062604 GRCh37: 8:116421510-116421510
GRCh38: 8:115409282-115409282
6 TRPS1 NM_014112.5(TRPS1):c.*4845_*4847ATA[1] Microsatellite Uncertain significance 361517 rs775143556 GRCh37: 8:116421401-116421403
GRCh38: 8:115409173-115409175
7 TRPS1 NM_014112.5(TRPS1):c.-318_-317CT[9] Microsatellite Uncertain significance 361641 rs10546472 GRCh37: 8:116680945-116680950
GRCh38: 8:115668718-115668723
8 TRPS1 NM_014112.5(TRPS1):c.*2740del Deletion Uncertain significance 361563 rs879823190 GRCh37: 8:116423511-116423511
GRCh38: 8:115411283-115411283
9 TRPS1 NM_014112.5(TRPS1):c.*338del Deletion Uncertain significance 361603 rs530055629 GRCh37: 8:116425913-116425913
GRCh38: 8:115413685-115413685
10 TRPS1 NM_014112.5(TRPS1):c.-320_-319del Deletion Uncertain significance 361644 rs199575103 GRCh37: 8:116680969-116680970
GRCh38: 8:115668742-115668743
11 TRPS1 NM_014112.5(TRPS1):c.-393_-392dup Duplication Uncertain significance 361647 rs759303878 GRCh37: 8:116681041-116681042
GRCh38: 8:115668814-115668815
12 TRPS1 NM_014112.5(TRPS1):c.*4593_*4597AAAGG[1] Microsatellite Uncertain significance 361534 rs755682849 GRCh37: 8:116421649-116421653
GRCh38: 8:115409421-115409425
13 TRPS1 NM_014112.5(TRPS1):c.*1983_*1984insG Insertion Uncertain significance 361581 rs886062618 GRCh37: 8:116424267-116424268
GRCh38: 8:115412039-115412040
14 TRPS1 NM_014112.5(TRPS1):c.*3538del Deletion Uncertain significance 369687 rs547899966 GRCh37: 8:116422713-116422713
GRCh38: 8:115410485-115410485
15 TRPS1 NM_014112.5(TRPS1):c.*4754_*4761dup Duplication Uncertain significance 361520 rs755990611 GRCh37: 8:116421489-116421490
GRCh38: 8:115409261-115409262
16 TRPS1 NM_014112.5(TRPS1):c.*1843del Deletion Uncertain significance 361584 rs886062619 GRCh37: 8:116424408-116424408
GRCh38: 8:115412180-115412180
17 TRPS1 NM_014112.5(TRPS1):c.*2537del Deletion Likely benign 361567 rs570702506 GRCh37: 8:116423714-116423714
GRCh38: 8:115411486-115411486
18 TRPS1 NM_014112.5(TRPS1):c.2701-9_2701-8del Deletion Likely benign 361611 rs368655299 GRCh37: 8:116430688-116430689
GRCh38: 8:115418460-115418461
19 TRPS1 NM_014112.5(TRPS1):c.-470T>C SNV Likely benign 361648 rs567007790 GRCh37: 8:116681120-116681120
GRCh38: 8:115668893-115668893
20 TRPS1 NM_014112.5(TRPS1):c.*5300_*5303del Deletion Likely benign 361510 rs564851438 GRCh37: 8:116420948-116420951
GRCh38: 8:115408720-115408723
Sources

Expression for Trichorhinophalangeal Syndrome

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Search GEO for disease gene expression data for Trichorhinophalangeal Syndrome.
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Pathways for Trichorhinophalangeal Syndrome

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GO Terms for Trichorhinophalangeal Syndrome

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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
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Sources for Trichorhinophalangeal Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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