TPBS
MCID: TMT002
MIFTS: 50

Temtamy Preaxial Brachydactyly Syndrome (TPBS)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Temtamy Preaxial Brachydactyly Syndrome

MalaCards integrated aliases for Temtamy Preaxial Brachydactyly Syndrome:

Name: Temtamy Preaxial Brachydactyly Syndrome 56 12 52 58 73 36 29 13 6 43 15 71
Preaxial Brachydactyly Syndrome, Temtamy Type 56 12 52
Tpbs 56 73
Mental Retardation Syndrome with Preaxial Brachydactyly, Hyperphalangism, Deafness and Orodental Anomalies 52
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:

56
Inheritance:
autosomal recessive


HPO:

31
temtamy preaxial brachydactyly syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Temtamy Preaxial Brachydactyly Syndrome

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. Affiliated tissues include bone, eye and brain, 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

Related Diseases for Temtamy Preaxial Brachydactyly Syndrome

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 11.6
2 brachydactyly 10.6
3 branchiootic syndrome 1 10.4
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
5 sensorineural hearing loss 10.4
6 cervical cancer 10.4
7 triiodothyronine receptor auxiliary protein 10.2
8 trypanosomiasis 10.2
9 complex regional pain syndrome 10.2
10 breast pericanalicular fibroadenoma 10.0 CSGALNACT1 CHSY1 CHPF
11 saul-wilson syndrome 9.9 TGDS CHST3
12 coffin-siris syndrome 2 9.9 CSGALNACT1 CHPF2 CHPF
13 urofacial syndrome 1 9.9 EXTL1 CHPF2 CHPF
14 collagen disease 9.8 B4GALT7 B3GALT6
15 hereditary multiple exostoses 9.8 EXTL1 EXT1
16 radioulnar synostosis 9.7 B4GALT7 B3GAT3 B3GALT6
17 spondyloepimetaphyseal dysplasia, matrilin-3 related 9.7 CHST3 B3GALT6
18 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 9.6 CHST3 B4GALT7 B3GAT3
19 ehlers-danlos syndrome progeroid type 9.6 EXTL1 B4GALT7 B3GAT3 B3GALT6
20 coffin-siris syndrome 3 9.5 CSGALNACT1 CHSY1 CHPF2 CHPF B3GAT3
21 larsen-like syndrome b3gat3 type 9.5 XYLT1 B4GALT7 B3GAT3 B3GALT6
22 coffin-siris syndrome 1 9.5 CSGALNACT1 CHSY1 CHPF2 CHPF B3GAT3
23 autosomal dominant non-syndromic intellectual disability 9.4 CSGALNACT1 CHSY1 CHPF2 CHPF B3GAT3
24 exostosis 9.3 NDST1 EXTL1 EXT1
25 odontochondrodysplasia 9.2 XYLT1 CHST3 B4GALT7 B3GALT6
26 desbuquois dysplasia 8.9 XYLT1 CSGALNACT1 CHST3 B4GALT7 B3GAT3 B3GALT6
27 larsen syndrome 8.7 XYLT1 TGDS CHST3 CHPF2 B4GALT7 B3GAT3

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



Diseases related to Temtamy Preaxial Brachydactyly Syndrome

Symptoms & Phenotypes for Temtamy Preaxial Brachydactyly Syndrome

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 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
19 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
20 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
21 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
22 hypoplasia of the maxilla 58 31 occasional (7.5%) Occasional (29-5%) HP:0000327
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:

56
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

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 8.92 B3GAT3 B4GALT7 DSEL TGDS

MGI Mouse Phenotypes related to Temtamy Preaxial Brachydactyly Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.63 CHSY1 CSGALNACT1 EXT1 NDST1 TGDS XYLT1
2 limbs/digits/tail MP:0005371 9.35 CHPF CHSY1 CSGALNACT1 EXT1 XYLT1
3 skeleton MP:0005390 9.23 CHPF CHST3 CHSY1 CSGALNACT1 EXT1 NDST1

Drugs & Therapeutics for Temtamy Preaxial Brachydactyly Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Correlation Between 3 Phase Bone Scintigraphy and Pressure Pain Thresholds in Patients With CRPS Completed NCT01623141

Search NIH Clinical Center for Temtamy Preaxial Brachydactyly Syndrome

Cochrane evidence based reviews: temtamy preaxial brachydactyly syndrome

Genetic Tests for Temtamy Preaxial Brachydactyly Syndrome

Genetic tests related to Temtamy Preaxial Brachydactyly Syndrome:

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

Anatomical Context for Temtamy Preaxial Brachydactyly Syndrome

MalaCards organs/tissues related to Temtamy Preaxial Brachydactyly Syndrome:

40
Bone, Eye, Brain, Skin, Prostate, Salivary Gland, B Cells

Publications for Temtamy Preaxial Brachydactyly Syndrome

Articles related to Temtamy Preaxial Brachydactyly Syndrome:

(show top 50) (show all 95)
# 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 56 6
21129728 2010
2
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. 56 6
21129727 2010
3
A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism. 6 56
19952732 2010
4
A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies. 6 56
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? 56
15365460 2004
6
An Adjustable-Porosity Plastic Crystal Electrolyte Enables High-Performance All-Solid-State Lithium-Oxygen Batteries. 61
32175643 2020
7
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
8
Tetraphenylbenzosilole: An AIE Building Block for Deep-Blue Emitters with High Performance in Nondoped Spin-Coating OLEDs. 61
31711293 2020
9
Use of Oral Prednisolone and a 3-Phase Bone Scintigraphy in Patients with Complex Regional Pain Syndrome Type I. 61
31936474 2020
10
Transpancreatic biliary sphincterotomy for biliary access is safe also on a long-term scale. 61
31993817 2020
11
Formation of Nanocomposite Solid Oxide Fuel Cell Cathodes by Preferential Clustering of Cations from a Single Polymeric Precursor. 61
31790191 2019
12
Criteria for difficult biliary cannulation: start to count. 61
31464778 2019
13
Three-phase Technetium-99m bone scanning in patients with pain in the knee region after cemented total knee arthroplasty. 61
30888518 2019
14
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
15
Three-phase Bone Scintigraphy Can Predict the Analgesic Efficacy of Ketamine Therapy in CRPS. 61
29538095 2018
16
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
17
The value of 99mTc-MDP bone SPECT/CT in evaluation of patients with painful knee prosthesis. 61
29553970 2018
18
Dopant driven tuning of the hydrogen oxidation mechanism at the pore/nickel/zirconia triple phase boundary. 61
29691523 2018
19
Utility of Radionuclide Bone Scintigraphy in Complex Regional Pain Syndrome. 61
29388057 2018
20
A High-Performing Direct Carbon Fuel Cell with a 3D Architectured Anode Operated Below 600 °C. 61
29218736 2018
21
Accuracy of diagnostic imaging modalities for peripheral post-traumatic osteomyelitis - a systematic review of the recent literature. 61
28451827 2017
22
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus. 61
28422407 2017
23
Mechanism of Cathodic Performance Enhancement by a Few-Nanometer-Thick Oxide Overcoat on Porous Pt Cathodes of Solid Oxide Fuel Cells. 61
31457472 2017
24
Three-phase bone scintigraphy for diagnosis of Charcot neuropathic osteoarthropathy in the diabetic foot - does quantitative data improve diagnostic value? 61
26147681 2017
25
A novel approach of 67-Gallium-citrate three-phase bone scan to diagnose bone infection: A report of three cases. 61
27833310 2016
26
Higher reliability of triple-phase bone scintigraphy in cementless total hip arthroplasty compared to cementless bipolar hemiarthroplasty. 61
27508079 2016
27
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
28
Electrochemically Scavenging the Silica Impurities at the Ni-YSZ Triple Phase Boundary of Solid Oxide Cells. 61
27352122 2016
29
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
30
Helium stability and its interaction with H in α-Al2O3: a first-principles study. 61
26674752 2016
31
A FURTHER PATIENT OF PURE 15q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS. 61
27192887 2016
32
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
33
[Intrarectal povidone-iodine to reduce the risk of genitourinary infections after transrectal prostate biopsy]. 61
26506491 2015
34
Significant impact of transperineal template biopsy of the prostate at a single tertiary institution. 61
26692659 2015
35
Three phase bone scan interpretation based upon vascular endothelial response. 61
25829726 2015
36
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
37
Predictive value of sympathetic skin response in diagnosing complex regional pain syndrome: a case-control study. 61
25750880 2015
38
Prosthesis infection: diagnosis after total joint arthroplasty with three-phase bone scintigraphy. 61
25169788 2014
39
[Bone resorption in posttraumatic dystrophy. Root cause analysis based on the literature]. 61
25274392 2014
40
Osteoprotegerin: a new biomarker for impaired bone metabolism in complex regional pain syndrome? 61
24447513 2014
41
Water sorption, solubility, and resultant change in strength among three resin-based dental composites. 61
23188774 2014
42
Comparison of muscle and joint pressure-pain thresholds in patients with complex regional pain syndrome and upper limb pain of other origin. 61
24333949 2014
43
A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. 61
24269551 2014
44
Augmentation method of triple phase boundary in thin film solid oxide fuel cell via physical vapor deposition. 61
24266148 2013
45
The trigger-maintenance model of persistent mild to moderate hyperoxaluria induces oxalate accumulation in non-renal tissues. 61
23821183 2013
46
Enhancing the oxygen permeation rate of Zr(0.84)Y(0.16)O(1.92)-La(0.8)Sr(0.2)Cr(0.5)Fe(0.5)O(3-δ) dual-phase hollow fiber membrane by coating with Ce(0.8)Sm(0.2)O(1.9) nanoparticles. 61
24020639 2013
47
Skull base osteomyelitis in otitis externa: The utility of triphasic and single photon emission computed tomography/computed tomography bone scintigraphy. 61
24163508 2013
48
Usefulness of asymmetry score on quantitative three-phase bone scintigraphy in the evaluation of complex regional pain syndrome. 61
24019668 2013
49
Enhancing charge transfer kinetics by nanoscale catalytic cermet interlayer. 61
23151148 2012
50
Analysis of patterns of three-phase bone scintigraphy for patients with complex regional pain syndrome diagnosed using the proposed research criteria (the 'Budapest Criteria'). 61
22293544 2012

Variations for Temtamy Preaxial Brachydactyly Syndrome

ClinVar genetic disease variations for Temtamy Preaxial Brachydactyly Syndrome:

6 (show all 32) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHSY1 CHSY1, 30-BP DEL, NT55deletion 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>GSNV 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 15:101791566-101791566 15:101251361-101251361
7 CHSY1 NM_014918.5(CHSY1):c.39G>A (p.Leu13=)SNV Conflicting interpretations of pathogenicity 193376 rs764100516 15:101791623-101791623 15:101251418-101251418
8 CHSY1 NM_014918.5(CHSY1):c.1602A>T (p.Ile534=)SNV Conflicting interpretations of pathogenicity 288227 rs146586939 15:101718400-101718400 15:101178195-101178195
9 CHSY1 NM_014918.5(CHSY1):c.21C>T (p.Arg7=)SNV Conflicting interpretations of pathogenicity 594475 rs751409111 15:101791641-101791641 15:101251436-101251436
10 CHSY1 NM_014918.5(CHSY1):c.489G>A (p.Lys163=)SNV Conflicting interpretations of pathogenicity 597735 rs146047900 15:101775614-101775614 15:101235409-101235409
11 CHSY1 NM_014918.5(CHSY1):c.1312C>T (p.Arg438Trp)SNV Uncertain significance 646344 15:101718690-101718690 15:101178485-101178485
12 CHSY1 NM_014918.5(CHSY1):c.1111G>A (p.Glu371Lys)SNV Uncertain significance 640497 15:101718891-101718891 15:101178686-101178686
13 CHSY1 NM_014918.5(CHSY1):c.730C>T (p.Arg244Trp)SNV Uncertain significance 646047 15:101775373-101775373 15:101235168-101235168
14 CHSY1 NM_014918.5(CHSY1):c.535G>T (p.Asp179Tyr)SNV Uncertain significance 646602 15:101775568-101775568 15:101235363-101235363
15 CHSY1 NM_014918.5(CHSY1):c.179_190dup (p.Gly60_Gly63dup)duplication Uncertain significance 548538 rs1555437965 15:101791471-101791472 15:101251266-101251267
16 CHSY1 NM_014918.5(CHSY1):c.1006C>T (p.Arg336Cys)SNV Uncertain significance 522063 rs1320280755 15:101718996-101718996 15:101178791-101178791
17 CHSY1 NM_014918.5(CHSY1):c.1555C>A (p.Leu519Ile)SNV Likely benign 782891 15:101718447-101718447 15:101178242-101178242
18 CHSY1 NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr)SNV Benign/Likely benign 281557 rs148193087 15:101718677-101718677 15:101178472-101178472
19 CHSY1 NM_014918.5(CHSY1):c.666G>A (p.Gly222=)SNV Benign/Likely benign 282382 rs74545602 15:101775437-101775437 15:101235232-101235232
20 CHSY1 NM_014918.5(CHSY1):c.2088G>A (p.Thr696=)SNV Benign/Likely benign 283194 rs150245745 15:101717914-101717914 15:101177709-101177709
21 CHSY1 NM_014918.5(CHSY1):c.1218C>T (p.Asp406=)SNV Benign/Likely benign 284529 rs113219895 15:101718784-101718784 15:101178579-101178579
22 CHSY1 NM_014918.5(CHSY1):c.333G>A (p.Lys111=)SNV Benign 534523 rs117481449 15:101775770-101775770 15:101235565-101235565
23 CHSY1 NM_014918.5(CHSY1):c.1518T>C (p.Phe506=)SNV Benign 787189 15:101718484-101718484 15:101178279-101178279
24 CHSY1 NM_014918.5(CHSY1):c.534A>G (p.Gly178=)SNV Benign 779965 15:101775569-101775569 15:101235364-101235364
25 CHSY1 NM_014918.5(CHSY1):c.423C>T (p.Asp141=)SNV Benign 784536 15:101775680-101775680 15:101235475-101235475
26 CHSY1 NM_014918.5(CHSY1):c.114C>T (p.Gly38=)SNV Benign 784620 15:101791548-101791548 15:101251343-101251343
27 CHSY1 NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg)SNV Benign 466168 rs74752435 15:101718950-101718950 15:101178745-101178745
28 CHSY1 NM_014918.5(CHSY1):c.1812G>A (p.Val604=)SNV Benign 466170 rs3803422 15:101718190-101718190 15:101177985-101177985
29 CHSY1 NM_014918.5(CHSY1):c.1473A>G (p.Gln491=)SNV Benign 466169 rs76457230 15:101718529-101718529 15:101178324-101178324
30 CHSY1 NM_014918.5(CHSY1):c.1896C>T (p.Val632=)SNV Benign 466171 rs3803423 15:101718106-101718106 15:101177901-101177901
31 CHSY1 NM_014918.5(CHSY1):c.1725C>T (p.Asp575=)SNV Benign 788311 15:101718277-101718277 15:101178072-101178072
32 CHSY1 NM_014918.5(CHSY1):c.1566G>A (p.Ser522=)SNV Benign 786869 15:101718436-101718436 15:101178231-101178231

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

Expression for Temtamy Preaxial Brachydactyly Syndrome

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

Pathways for Temtamy Preaxial Brachydactyly Syndrome

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
Show member pathways
13.75 XYLT1 TGDS NDST1 EXTL1 EXT1 DSEL
2
Show member pathways
12.16 XYLT1 DSEL CSGALNACT1 CHSY1 CHST3 CHPF2
3
Show member pathways
12.15 XYLT1 NDST1 EXT1 DSEL CSGALNACT1 CHSY1
4
Show member pathways
11.53 XYLT1 NDST1 EXTL1 EXT1 B4GALT7 B3GAT3

GO Terms for Temtamy Preaxial Brachydactyly Syndrome

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 10.13 XYLT1 NDST1 EXTL1 EXT1 DSEL CSGALNACT1
2 integral component of membrane GO:0016021 10.07 XYLT1 NDST1 EXTL1 EXT1 DSEL CSGALNACT1
3 Golgi apparatus GO:0005794 9.73 XYLT1 NDST1 EXTL1 EXT1 CSGALNACT1 CHSY1
4 Golgi cisterna membrane GO:0032580 9.63 CSGALNACT1 CHSY1 CHPF2 CHPF B4GALT7 B3GALT6
5 Golgi membrane GO:0000139 9.4 XYLT1 NDST1 EXT1 DSEL CSGALNACT1 CHSY1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.8 EXTL1 EXT1 B4GALT7 B3GAT3 B3GALT6
2 carbohydrate metabolic process GO:0005975 9.7 CHST3 B4GALT7 B3GAT3
3 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.65 XYLT1 NDST1 EXT1 B3GAT3 B3GALT6
4 glycosaminoglycan metabolic process GO:0030203 9.55 XYLT1 NDST1 B4GALT7 B3GAT3 B3GALT6
5 chondroitin sulfate proteoglycan biosynthetic process GO:0050650 9.54 XYLT1 CSGALNACT1 B3GAT3
6 positive regulation of smoothened signaling pathway GO:0045880 9.51 NDST1 CHSY1
7 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.5 NDST1 EXT1 CSGALNACT1
8 proteoglycan biosynthetic process GO:0030166 9.49 XYLT1 CSGALNACT1
9 heparin biosynthetic process GO:0030210 9.48 NDST1 CSGALNACT1
10 chondroitin sulfate metabolic process GO:0030204 9.46 DSEL CSGALNACT1
11 dermatan sulfate proteoglycan biosynthetic process GO:0050651 9.43 CSGALNACT1 B3GAT3
12 glycosaminoglycan biosynthetic process GO:0006024 9.43 XYLT1 NDST1 EXT1 B4GALT7 B3GAT3 B3GALT6
13 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 acetylglucosaminyltransferase activity GO:0008375 9.71 XYLT1 EXTL1 EXT1 B3GALT6
2 transferase activity, transferring glycosyl groups GO:0016757 9.7 XYLT1 EXTL1 EXT1 CHSY1 CHPF B4GALT7
3 glucuronosyltransferase activity GO:0015020 9.67 EXTL1 EXT1 CSGALNACT1 B3GAT3
4 sulfotransferase activity GO:0008146 9.63 NDST1 DSEL CHST3
5 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity GO:0050510 9.5 CHSY1 CHPF2 CHPF
6 galactosyltransferase activity GO:0008378 9.49 B4GALT7 B3GALT6
7 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.48 NDST1 EXT1
8 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.43 EXTL1 EXT1
9 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity GO:0047238 9.43 CSGALNACT1 CHSY1 CHPF
10 transferase activity GO:0016740 9.4 XYLT1 NDST1 EXTL1 EXT1 CSGALNACT1 CHSY1
11 acetylgalactosaminyltransferase activity GO:0008376 9.35 CSGALNACT1 CHSY1 CHPF2 CHPF B3GALT6

Sources for Temtamy Preaxial Brachydactyly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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