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TPBS
MCID: TMT002
MIFTS: 54

Temtamy Preaxial Brachydactyly Syndrome (TPBS)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Temtamy Preaxial Brachydactyly Syndrome

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MalaCards integrated aliases for Temtamy Preaxial Brachydactyly Syndrome:

Name: Temtamy Preaxial Brachydactyly Syndrome 57 12 20 58 73 36 29 13 6 44 15 71
Preaxial Brachydactyly Syndrome, Temtamy Type 57 12 20
Tpbs 57 73
Mental Retardation Syndrome with Preaxial Brachydactyly, Hyperphalangism, Deafness and Orodental Anomalies 20
Preaxial Brachydactyly Syndrome Temtamy Type 73
Brachydactyly, Temtamy, Preaxial, Syndrome 39

Characteristics:

Orphanet epidemiological data:

58
temtamy preaxial brachydactyly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
temtamy preaxial brachydactyly syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Ear diseases Bone diseases Oral diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Rare odontological diseases


Sources

Summaries for Temtamy Preaxial Brachydactyly Syndrome

About this section
KEGG : 36 Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder that is caused by the mutations in the CHSY1 gene. CHSY1 encodes chondroitin synthase 1 involving in the biosynthesis of chondroitin sulfate and perhaps affecting bone morphogenetic protein (BMP) signaling. The loss-of-function mutations in the protein cause defects in multiple development processes. The major features include limb malformations, short stature, hearing loss, delayed motor and mental development, facial dysmorphism and dental anomalies.

MalaCards based summary : Temtamy Preaxial Brachydactyly Syndrome, also known as preaxial brachydactyly syndrome, temtamy type, is related to catel-manzke syndrome and brachydactyly. An important gene associated with Temtamy Preaxial Brachydactyly Syndrome is CHSY1 (Chondroitin Sulfate Synthase 1), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate and Metabolism. The drugs Ethanol and Travoprost have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and prostate, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.

UniProtKB/Swiss-Prot : 73 Temtamy preaxial brachydactyly syndrome: A syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism.

More information from OMIM: 605282
Sources

Related Diseases for Temtamy Preaxial Brachydactyly Syndrome

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Diseases related to Temtamy Preaxial Brachydactyly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 catel-manzke syndrome 11.3
2 brachydactyly 10.4
3 branchiootic syndrome 1 10.3
4 sensorineural hearing loss 10.3
5 macular dystrophy, corneal 10.1 CHST3 CHST14
6 saul-wilson syndrome 10.0 TGDS CHST3 CHST14
7 ehlers-danlos syndrome, musculocontractural type, 1 10.0 CHST3 CHST14 CHPF2
8 breast pericanalicular fibroadenoma 10.0 CSGALNACT1 CHSY1 CHPF
9 complex regional pain syndrome 10.0
10 ehlers-danlos syndrome, musculocontractural type, 2 9.9 DSEL CHST14 CHPF2
11 meester-loeys syndrome 9.8 CHST14 B3GAT3
12 hereditary multiple exostoses 9.8 EXTL1 EXT1
13 collagen disease 9.8 CHST14 B3GALT6
14 exostosis 9.8 EXTL1 EXT1
15 coffin-siris syndrome 2 9.7 CSGALNACT1 CHSY1 CHPF2 CHPF
16 geroderma osteodysplasticum 9.7 B3GAT3 B3GALT6
17 radioulnar synostosis 9.7 B3GAT3 B3GALT6
18 urofacial syndrome 1 9.7 EXTL1 CHSY1 CHPF2 CHPF
19 ehlers-danlos syndrome, spondylodysplastic type, 2 9.6 EXTL1 B3GAT3 B3GALT6
20 spondyloepiphyseal dysplasia with congenital joint dislocations 9.4 CHSY1 CHST3 CHST14 B3GAT3 B3GALT6
21 larsen-like syndrome b3gat3 type 9.4 XYLT1 CHST3 CHST14 B3GAT3 B3GALT6
22 desbuquois dysplasia 9.4 XYLT1 CHST3 CHST14 B3GAT3 B3GALT6
23 coffin-siris syndrome 3 9.3 CSGALNACT1 CHSY1 CHPF2 CHPF B3GAT3
24 coffin-siris syndrome 1 9.3 CSGALNACT1 CHSY1 CHPF2 CHPF B3GAT3
25 autosomal dominant non-syndromic intellectual disability 9.3 CSGALNACT1 CHSY1 CHPF2 CHPF B3GAT3
26 larsen syndrome 9.2 XYLT1 TGDS CHST3 CHST14 B3GAT3 B3GALT6
27 odontochondrodysplasia 9.1 XYLT1 EXT1 CHST3 B3GAT3 B3GALT6

Graphical network of the top 20 diseases related to Temtamy Preaxial Brachydactyly Syndrome:



Diseases related to Temtamy Preaxial Brachydactyly Syndrome
Sources

Symptoms & Phenotypes for Temtamy Preaxial Brachydactyly Syndrome

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Human phenotypes related to Temtamy Preaxial Brachydactyly Syndrome:

58 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 global developmental delay 58 31 very rare (1%) Frequent (79-30%) HP:0001263
3 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
4 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
5 partial duplication of thumb phalanx 58 31 frequent (33%) Frequent (79-30%) HP:0009944
6 severe sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008625
7 abnormally large globe 58 31 frequent (33%) Frequent (79-30%) HP:0001090
8 talon cusp 58 31 very rare (1%) Frequent (79-30%) HP:0011087
9 widely-spaced maxillary central incisors 58 31 frequent (33%) Frequent (79-30%) HP:0001566
10 proximal symphalangism of hands 58 31 frequent (33%) Frequent (79-30%) HP:0006152
11 complete duplication of proximal phalanx of the thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009608
12 complete duplication of the middle phalanx of the 3rd finger 58 31 frequent (33%) Frequent (79-30%) HP:0009966
13 partial duplication of the proximal phalanx of the 3rd finger 58 31 frequent (33%) Frequent (79-30%) HP:0009970
14 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
15 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
16 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
17 microdontia 58 31 very rare (1%) Occasional (29-5%) HP:0000691
18 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
19 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
20 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
21 hypoplasia of the maxilla 58 31 occasional (7.5%) Occasional (29-5%) HP:0000327
22 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
23 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
24 short hallux 58 31 occasional (7.5%) Occasional (29-5%) HP:0010109
25 round face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000311
26 blue sclerae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000592
27 cutaneous finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0010554
28 proximal radio-ulnar synostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005037
29 short foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001773
30 tarsal synostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008368
31 short palm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004279
32 radial deviation of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009466
33 oligodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000677
34 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
35 abnormality of canine 58 31 occasional (7.5%) Occasional (29-5%) HP:0011078
36 clinodactyly of the 2nd finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0040022
37 abnormality of the lens 58 31 occasional (7.5%) Occasional (29-5%) HP:0000517
38 tibial deviation of the 2nd toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0100345
39 tibial deviation of the 5th toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0100347
40 cleft palate 31 occasional (7.5%) HP:0000175
41 radioulnar synostosis 31 occasional (7.5%) HP:0002974
42 clinodactyly 31 very rare (1%) HP:0030084
43 syndactyly 31 very rare (1%) HP:0001159
44 hitchhiker thumb 31 very rare (1%) HP:0001234
45 hypertelorism 31 HP:0000316
46 abnormality of the dentition 58 Frequent (79-30%)
47 abnormal facial shape 58 Frequent (79-30%)
48 growth delay 58 Frequent (79-30%)
49 highly arched eyebrow 31 HP:0002553
50 deep philtrum 31 HP:0002002

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Teeth:
microdontia
talon cusps
midline diastema
narrow lower alveolar ridge
lobulated anterior palatine rugae (rare)

Skeletal Hands:
short metacarpals
carpal fusion
short, abducted thumbs
radioulnar synostosis (rare)
soft tissue syndactyly
more
Head And Neck Mouth:
prominent philtrum
cleft palate (rare)

Head And Neck Eyes:
synophrys
arched eyebrows
optic atrophy (rare)
blue sclerae (in some patients)
wide-eye appearance
more
Skeletal Feet:
short metatarsals
tarsal fusion
lateral deviation of the halluces

Head And Neck Ears:
bilateral sensorineural deafness

Clinical features from OMIM®:

605282 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Temtamy Preaxial Brachydactyly Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased hepcidin::fluc mRNA expression GR00253-A 8.8 B3GAT3 DSEL TGDS

MGI Mouse Phenotypes related to Temtamy Preaxial Brachydactyly Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.63 CHST14 CHSY1 CSGALNACT1 EXT1 TGDS XYLT1
2 limbs/digits/tail MP:0005371 9.5 CHPF CHST14 CHSY1 CSGALNACT1 EXT1 KIAA1217
3 skeleton MP:0005390 9.28 CHPF CHST14 CHST3 CHSY1 CSGALNACT1 EXT1
Sources

Drugs & Therapeutics for Temtamy Preaxial Brachydactyly Syndrome

About this section

Drugs for Temtamy Preaxial Brachydactyly Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 2 64-17-5 702
2
Travoprost Approved Phase 1 157283-68-6 5282226
3
Timolol Approved Phase 1 26839-75-8 33624 5478
4
Maleic acid Experimental Phase 1 110-16-7 444266
5 Pharmaceutical Solutions Phase 1
6 Adrenergic Antagonists Phase 1
7 Adrenergic beta-Antagonists Phase 1
8 Antihypertensive Agents Phase 1
9 Neurotransmitter Agents Phase 1
10 Tissue Plasminogen Activator Phase 1
11 Ophthalmic Solutions Phase 1
12 Adrenergic Agents Phase 1
13 Anti-Arrhythmia Agents Phase 1
14 Contraceptive Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Testing Stage Tailored vs. Non-stage Tailored Interventions Among Job-seekers With Risky Drinking Completed NCT01311245 Phase 2
2 A Prospective, Multicenter, Randomized, Double-Masked, Multi-Arm Feasibility Study Evaluating the Safety and Efficacy of OTX-TP Compared to Timolol Drops in the Treatment of Subjects With Open Angle Glaucoma or Ocular Hypertension Completed NCT01845038 Phase 1 OTX-TPa ~4µg/day over 2 mos. with natural tears drops;OTX-TPb ~3µg/day over 3 months with natural tears drops;Timolol Maleate (0.5%) dosed twice daily with punctum plug without drug
3 Assessing the Effect of Education Based on Theory of Planned Behavior (TPB) on Delivery Type Selection in Pregnant Women Referring to Kermanshah Health Centers at 1393 Completed NCT02929875
4 Community-embedded Reproductive Health Care for Adolescents in Latin America (CERCA). Completed NCT01722084
5 A Randomised Controlled Trial of a Program Based on the Theory of Planned Behaviour to Promote Fruit and Vegetables Intake Among Children. PROFRUVE Study Protocol. Completed NCT03400891
6 Effects of Nutrition Counselling on Old Age People's Nutritional Status and Quality of Life in Bahir Dar City, North West Ethiopia Not yet recruiting NCT04746664

Search NIH Clinical Center for Temtamy Preaxial Brachydactyly Syndrome

Cochrane evidence based reviews: temtamy preaxial brachydactyly syndrome

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Genetic Tests for Temtamy Preaxial Brachydactyly Syndrome

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Genetic tests related to Temtamy Preaxial Brachydactyly Syndrome:

# Genetic test Affiliating Genes
1 Temtamy Preaxial Brachydactyly Syndrome 29 CHSY1
Sources

Anatomical Context for Temtamy Preaxial Brachydactyly Syndrome

About this section

MalaCards organs/tissues related to Temtamy Preaxial Brachydactyly Syndrome:

40
Bone, Eye, Prostate, Brain, Skin, Endothelial
Sources

Publications for Temtamy Preaxial Brachydactyly Syndrome

About this section

Articles related to Temtamy Preaxial Brachydactyly Syndrome:

(show top 50) (show all 104)
# Title Authors PMID Year
1
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. 61 6 57
21129728 2010
2
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. 6 57
21129727 2010
3
A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism. 57 6
19952732 2010
4
A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies. 6 57
9823490 1998
5
Catel-Manzke syndrome: a case report of a female with severely malformed hands and feet. An extension of the phenotype or a new syndrome? 57
15365460 2004
6
Systematic and MRI-Cognitive Targeted Transperineal Prostate Biopsy Accuracy in Detecting Clinically Significant Prostate Cancer after Previous Negative Biopsy and Persisting Suspicion of Malignancy. 61
33435132 2021
7
Transpancreatic biliary sphincterotomy for biliary access is safe also on a long-term scale. 61
31993817 2021
8
Partial hardware removal in guided growth surgery: A convenient strategy? 61
33419673 2021
9
Transpancreatic biliary sphincterotomy versus double guidewire in difficult biliary cannulation: a randomized controlled trial. 61
33440441 2021
10
Early-Phase SPECT/CT for Diagnosing Osteomyelitis: A Retrospective Pilot Study. 61
33289359 2020
11
The shape and dynamics of deformations of viscoelastic fluids by water droplets. 61
32717444 2020
12
Aggregation-Induced Electrochemiluminescence of Tetraphenylbenzosilole Derivatives in an Aqueous Phase System for Ultrasensitive Detection of Hexavalent Chromium. 61
33085461 2020
13
An intervention based on the health belief model led to improvements in self-efficacy towards ERIPP participation and functional performance in club sport athletes: a pilot study. 61
32402758 2020
14
Validity of thoracic ultrasonography to rule out iatrogenic pneumothorax performed by pulmonologists without experience in this procedure. 61
32943217 2020
15
Ecological risk assessment of an antifouling biocide triphenyl (octadecylamine) boron in the Seto Inland Sea, Japan. 61
32658685 2020
16
An Adjustable-Porosity Plastic Crystal Electrolyte Enables High-Performance All-Solid-State Lithium-Oxygen Batteries. 61
32175643 2020
17
Tetraphenylbenzosilole: An AIE Building Block for Deep-Blue Emitters with High Performance in Nondoped Spin-Coating OLEDs. 61
31711293 2020
18
Use of Oral Prednisolone and a 3-Phase Bone Scintigraphy in Patients with Complex Regional Pain Syndrome Type I. 61
31936474 2020
19
Engagement in Tobacco Use Prompting During Childhood or Adolescence and Its Association with Tobacco Use in Adulthood among Colombian Women. 61
32874094 2020
20
Formation of Nanocomposite Solid Oxide Fuel Cell Cathodes by Preferential Clustering of Cations from a Single Polymeric Precursor. 61
31790191 2019
21
Criteria for difficult biliary cannulation: start to count. 61
31464778 2019
22
Three-phase Technetium-99m bone scanning in patients with pain in the knee region after cemented total knee arthroplasty. 61
30888518 2019
23
Health Belief Model Scale and Theory of Planned Behavior Scale to assess attitudes and perceptions of injury prevention program participation: An exploratory factor analysis. 61
30501955 2019
24
Three-phase Bone Scintigraphy Can Predict the Analgesic Efficacy of Ketamine Therapy in CRPS. 61
29538095 2018
25
The value of 99mTc-MDP bone SPECT/CT in evaluation of patients with painful knee prosthesis. 61
29553970 2018
26
Dopant driven tuning of the hydrogen oxidation mechanism at the pore/nickel/zirconia triple phase boundary. 61
29691523 2018
27
3-phase Technicium-99m bone scanning in patients with pain in the hip region after cemented total hip replacement: a multicentre series of 100 cases. 61
29192730 2018
28
Utility of Radionuclide Bone Scintigraphy in Complex Regional Pain Syndrome. 61
29388057 2018
29
A High-Performing Direct Carbon Fuel Cell with a 3D Architectured Anode Operated Below 600 °C. 61
29218736 2018
30
Accuracy of diagnostic imaging modalities for peripheral post-traumatic osteomyelitis - a systematic review of the recent literature. 61
28451827 2017
31
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus. 61
28422407 2017
32
Mechanism of Cathodic Performance Enhancement by a Few-Nanometer-Thick Oxide Overcoat on Porous Pt Cathodes of Solid Oxide Fuel Cells. 61
31457472 2017
33
Three-phase bone scintigraphy for diagnosis of Charcot neuropathic osteoarthropathy in the diabetic foot - does quantitative data improve diagnostic value? 61
26147681 2017
34
A novel approach of 67-Gallium-citrate three-phase bone scan to diagnose bone infection: A report of three cases. 61
27833310 2016
35
Higher reliability of triple-phase bone scintigraphy in cementless total hip arthroplasty compared to cementless bipolar hemiarthroplasty. 61
27508079 2016
36
Is poststroke complex regional pain syndrome the combination of shoulder pain and soft tissue injury of the wrist?: A prospective observational study: STROBE of ultrasonographic findings in complex regional pain syndrome. 61
27495051 2016
37
Electrochemically Scavenging the Silica Impurities at the Ni-YSZ Triple Phase Boundary of Solid Oxide Cells. 61
27352122 2016
38
Comparative analysis of dual-phase 18F-fluoride PET/CT and three phase bone scintigraphy in the evaluation of septic (or painful) hip prostheses: A prospective study. 61
26850923 2016
39
Identification of Genes Potentially Responsible for extra-Oral Digestion and Overcoming Plant Defense from Salivary Glands of the Tarnished Plant Bug (Hemiptera: Miridae) Using cDNA Sequencing. 61
27324587 2016
40
Helium stability and its interaction with H in α-Al2O3: a first-principles study. 61
26674752 2016
41
A FURTHER PATIENT OF PURE 15q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS. 61
27192887 2016
42
[Intrarectal povidone-iodine to reduce the risk of genitourinary infections after transrectal prostate biopsy]. 61
26506491 2015
43
Significant impact of transperineal template biopsy of the prostate at a single tertiary institution. 61
26692659 2015
44
Three phase bone scan interpretation based upon vascular endothelial response. 61
25829726 2015
45
18-F flourodeoxy glucose positron emission tomography-computed tomography imaging: A viable alternative to three phase bone scan in evaluating diabetic foot complications? 61
25829725 2015
46
Predictive value of sympathetic skin response in diagnosing complex regional pain syndrome: a case-control study. 61
25750880 2015
47
Prosthesis infection: diagnosis after total joint arthroplasty with three-phase bone scintigraphy. 61
25169788 2014
48
[Bone resorption in posttraumatic dystrophy. Root cause analysis based on the literature]. 61
25274392 2014
49
Water sorption, solubility, and resultant change in strength among three resin-based dental composites. 61
23188774 2014
50
Osteoprotegerin: a new biomarker for impaired bone metabolism in complex regional pain syndrome? 61
24447513 2014
Sources

Variations for Temtamy Preaxial Brachydactyly Syndrome

About this section

ClinVar genetic disease variations for Temtamy Preaxial Brachydactyly Syndrome:

6 (show all 38)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHSY1 CHSY1, 30-BP DEL, NT55 Deletion Pathogenic 30710
2 CHSY1 NM_014918.5(CHSY1):c.14del (p.Gly5fs) Deletion Pathogenic 30711 rs1567112402 15:101791648-101791648 15:101251443-101251443
3 CHSY1 NM_014918.5(CHSY1):c.205C>T (p.Gln69Ter) SNV Pathogenic 30712 rs387906984 15:101791457-101791457 15:101251252-101251252
4 CHSY1 NM_014918.5(CHSY1):c.321-3C>G SNV Pathogenic 30713 rs1567106459 15:101775785-101775785 15:101235580-101235580
5 CHSY1 NM_014918.5(CHSY1):c.1616C>G (p.Pro539Arg) SNV Pathogenic 30714 rs387906985 15:101718386-101718386 15:101178181-101178181
6 CHSY1 NM_014918.5(CHSY1):c.96del (p.Glu33fs) Deletion Pathogenic 30715 rs1596459125 15:101791566-101791566 15:101251361-101251361
7 CHSY1 NM_014918.5(CHSY1):c.2335G>A (p.Glu779Lys) SNV Uncertain significance 946798 15:101717667-101717667 15:101177462-101177462
8 CHSY1 NM_014918.5(CHSY1):c.1600A>T (p.Ile534Leu) SNV Uncertain significance 947829 15:101718402-101718402 15:101178197-101178197
9 CHSY1 NM_014918.5(CHSY1):c.209T>G (p.Leu70Arg) SNV Uncertain significance 950051 15:101791453-101791453 15:101251248-101251248
10 CHSY1 NM_014918.5(CHSY1):c.787G>T (p.Ala263Ser) SNV Uncertain significance 960564 15:101775316-101775316 15:101235111-101235111
11 CHSY1 NM_014918.5(CHSY1):c.479A>T (p.Tyr160Phe) SNV Uncertain significance 966703 15:101775624-101775624 15:101235419-101235419
12 CHSY1 NM_014918.5(CHSY1):c.2320A>G (p.Thr774Ala) SNV Uncertain significance 966757 15:101717682-101717682 15:101177477-101177477
13 CHSY1 NM_014918.5(CHSY1):c.1006C>T (p.Arg336Cys) SNV Uncertain significance 522063 rs1320280755 15:101718996-101718996 15:101178791-101178791
14 CHSY1 NM_014918.5(CHSY1):c.179_190dup (p.Gly60_Gly63dup) Duplication Uncertain significance 548538 rs1555437965 15:101791471-101791472 15:101251266-101251267
15 CHSY1 NM_014918.5(CHSY1):c.1111G>A (p.Glu371Lys) SNV Uncertain significance 640497 rs1596419433 15:101718891-101718891 15:101178686-101178686
16 CHSY1 NM_014918.5(CHSY1):c.730C>T (p.Arg244Trp) SNV Uncertain significance 646047 rs74040399 15:101775373-101775373 15:101235168-101235168
17 CHSY1 NM_014918.5(CHSY1):c.1312C>T (p.Arg438Trp) SNV Uncertain significance 646344 rs773396835 15:101718690-101718690 15:101178485-101178485
18 CHSY1 NM_014918.5(CHSY1):c.535G>T (p.Asp179Tyr) SNV Uncertain significance 646602 rs138311444 15:101775568-101775568 15:101235363-101235363
19 CHSY1 NM_014918.5(CHSY1):c.21C>T (p.Arg7=) SNV Likely benign 594475 rs751409111 15:101791641-101791641 15:101251436-101251436
20 CHSY1 NM_014918.5(CHSY1):c.489G>A (p.Lys163=) SNV Likely benign 597735 rs146047900 15:101775614-101775614 15:101235409-101235409
21 CHSY1 NM_014918.5(CHSY1):c.1555C>A (p.Leu519Ile) SNV Likely benign 782891 rs754947736 15:101718447-101718447 15:101178242-101178242
22 CHSY1 NM_014918.5(CHSY1):c.423C>T (p.Asp141=) SNV Benign 784536 rs115447262 15:101775680-101775680 15:101235475-101235475
23 CHSY1 NM_014918.5(CHSY1):c.114C>T (p.Gly38=) SNV Benign 784620 rs773533401 15:101791548-101791548 15:101251343-101251343
24 CHSY1 NM_014918.5(CHSY1):c.2088G>A (p.Thr696=) SNV Benign 283194 rs150245745 15:101717914-101717914 15:101177709-101177709
25 CHSY1 NM_014918.5(CHSY1):c.1566G>A (p.Ser522=) SNV Benign 786869 rs74784454 15:101718436-101718436 15:101178231-101178231
26 CHSY1 NM_014918.5(CHSY1):c.1518T>C (p.Phe506=) SNV Benign 787189 rs145002451 15:101718484-101718484 15:101178279-101178279
27 CHSY1 NM_014918.5(CHSY1):c.1725C>T (p.Asp575=) SNV Benign 788311 rs151237975 15:101718277-101718277 15:101178072-101178072
28 CHSY1 NM_014918.5(CHSY1):c.1602A>T (p.Ile534=) SNV Benign 288227 rs146586939 15:101718400-101718400 15:101178195-101178195
29 CHSY1 NM_014918.5(CHSY1):c.39G>A (p.Leu13=) SNV Benign 193376 rs764100516 15:101791623-101791623 15:101251418-101251418
30 CHSY1 NM_014918.5(CHSY1):c.333G>A (p.Lys111=) SNV Benign 534523 rs117481449 15:101775770-101775770 15:101235565-101235565
31 CHSY1 NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg) SNV Benign 466168 rs74752435 15:101718950-101718950 15:101178745-101178745
32 CHSY1 NM_014918.5(CHSY1):c.1896C>T (p.Val632=) SNV Benign 466171 rs3803423 15:101718106-101718106 15:101177901-101177901
33 CHSY1 NM_014918.5(CHSY1):c.1473A>G (p.Gln491=) SNV Benign 466169 rs76457230 15:101718529-101718529 15:101178324-101178324
34 CHSY1 NM_014918.5(CHSY1):c.1812G>A (p.Val604=) SNV Benign 466170 rs3803422 15:101718190-101718190 15:101177985-101177985
35 CHSY1 NM_014918.5(CHSY1):c.1218C>T (p.Asp406=) SNV Benign 284529 rs113219895 15:101718784-101718784 15:101178579-101178579
36 CHSY1 NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) SNV Benign 281557 rs148193087 15:101718677-101718677 15:101178472-101178472
37 CHSY1 NM_014918.5(CHSY1):c.666G>A (p.Gly222=) SNV Benign 282382 rs74545602 15:101775437-101775437 15:101235232-101235232
38 CHSY1 NM_014918.5(CHSY1):c.534A>G (p.Gly178=) SNV Benign 779965 rs3743192 15:101775569-101775569 15:101235364-101235364

UniProtKB/Swiss-Prot genetic disease variations for Temtamy Preaxial Brachydactyly Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 CHSY1 p.Pro539Arg VAR_065822 rs387906985

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Expression for Temtamy Preaxial Brachydactyly Syndrome

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Search GEO for disease gene expression data for Temtamy Preaxial Brachydactyly Syndrome.
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Pathways for Temtamy Preaxial Brachydactyly Syndrome

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Pathways related to Temtamy Preaxial Brachydactyly Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate hsa00532

Pathways related to Temtamy Preaxial Brachydactyly Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.72 XYLT1 TGDS EXTL1 EXT1 DSEL CSGALNACT1
2
Chondroitin sulfate/dermatan sulfate metabolism 65
Show member pathways
 12.16 XYLT1 DSEL CSGALNACT1 CHSY1 CHST3 CHST14
3
Glycosaminoglycan metabolism 65
Show member pathways
 12.11 XYLT1 EXT1 DSEL CSGALNACT1 CHSY1 CHST3
4
heparan sulfate biosynthesis 1
Show member pathways
 11.39 XYLT1 EXTL1 EXT1 B3GAT3 B3GALT6
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GO Terms for Temtamy Preaxial Brachydactyly Syndrome

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Cellular components related to Temtamy Preaxial Brachydactyly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.1 XYLT1 EXTL1 EXT1 DSEL CSGALNACT1 CHSY1
2 integral component of membrane GO:0016021 10.03 XYLT1 EXTL1 EXT1 DSEL CSGALNACT1 CHSY1
3 Golgi apparatus GO:0005794 9.7 XYLT1 EXTL1 EXT1 CSGALNACT1 CHSY1 CHST3
4 Golgi cisterna membrane GO:0032580 9.55 CSGALNACT1 CHSY1 CHPF2 CHPF B3GALT6
5 Golgi membrane GO:0000139 9.36 XYLT1 EXT1 DSEL CSGALNACT1 CHSY1 CHST3

Biological processes related to Temtamy Preaxial Brachydactyly Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.74 CHST3 CHST14 B3GAT3
2 protein glycosylation GO:0006486 9.73 EXTL1 EXT1 B3GAT3 B3GALT6
3 embryonic skeletal system development GO:0048706 9.56 XYLT1 KIAA1217
4 glycosaminoglycan biosynthetic process GO:0006024 9.56 XYLT1 EXT1 B3GAT3 B3GALT6
5 bone morphogenesis GO:0060349 9.55 EXT1 CHSY1
6 endochondral ossification GO:0001958 9.54 EXT1 CSGALNACT1
7 glycosaminoglycan metabolic process GO:0030203 9.54 XYLT1 B3GAT3 B3GALT6
8 sulfation GO:0051923 9.52 EXT1 CHSY1
9 heparin biosynthetic process GO:0030210 9.51 EXT1 CSGALNACT1
10 chondroitin sulfate proteoglycan biosynthetic process GO:0050650 9.5 XYLT1 CSGALNACT1 B3GAT3
11 dermatan sulfate biosynthetic process GO:0030208 9.49 DSEL CHST14
12 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.48 EXT1 CSGALNACT1
13 chondroitin sulfate metabolic process GO:0030204 9.46 DSEL CSGALNACT1
14 proteoglycan biosynthetic process GO:0030166 9.46 XYLT1 EXT1 CSGALNACT1 B3GALT6
15 dermatan sulfate proteoglycan biosynthetic process GO:0050651 9.4 CSGALNACT1 B3GAT3
16 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.26 XYLT1 EXT1 B3GAT3 B3GALT6
17 chondroitin sulfate biosynthetic process GO:0030206 9.17 XYLT1 CSGALNACT1 CHSY1 CHST3 CHPF2 CHPF

Molecular functions related to Temtamy Preaxial Brachydactyly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.85 XYLT1 EXTL1 EXT1 CHSY1 CHPF B3GALT6
2 transferase activity GO:0016740 9.7 XYLT1 EXTL1 EXT1 CSGALNACT1 CHSY1 CHST3
3 glucuronosyltransferase activity GO:0015020 9.62 EXTL1 EXT1 CSGALNACT1 B3GAT3
4 sulfotransferase activity GO:0008146 9.61 DSEL CHST3 CHST14
5 acetylglucosaminyltransferase activity GO:0008375 9.46 EXTL1 EXT1
6 acetylgalactosaminyltransferase activity GO:0008376 9.46 CSGALNACT1 CHSY1 CHPF2 CHPF
7 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity GO:0050510 9.43 CHSY1 CHPF2 CHPF
8 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.4 EXTL1 EXT1
9 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity GO:0047238 8.92 CSGALNACT1 CHSY1 CHPF2 CHPF
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Sources for Temtamy Preaxial Brachydactyly 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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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