Temtamy Preaxial Brachydactyly Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

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

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly involving limbs

Orphanet: ⁵⁸

Rare neurological diseases

Rare otorhinolaryngological diseases

Rare bone diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

Rare odontological diseases

External Ids:

Disease Ontology ¹² DOID:0050814

OMIM ⁵⁶ 605282

KEGG ³⁶ H01497

MeSH ⁴³ C536958 D000015

SNOMED-CT ⁶⁷ 777998000

ICD10 via Orphanet ³³ Q87.2

UMLS via Orphanet ⁷² C1854466

Orphanet ⁵⁸ ORPHA363417

MedGen ⁴¹ C1854466

UMLS ⁷¹ C1854466

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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

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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:

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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

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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

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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

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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

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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	Li Y...Wollnik B	21129728	2010
2	Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. ⁵⁶ ⁶	Tian J...Reversade B	21129727	2010
3	A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism. ⁶ ⁵⁶	Race H...Wakeling EL	19952732	2010
4	A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies. ⁶ ⁵⁶	Temtamy SA...Ramzy MI	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	Clarkson JH...Moss AL	15365460	2004
6	An Adjustable-Porosity Plastic Crystal Electrolyte Enables High-Performance All-Solid-State Lithium-Oxygen Batteries. ⁶¹	Wang J...Zhang XB	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	Gabriel EH...Cramer RJ	32402758	2020
8	Tetraphenylbenzosilole: An AIE Building Block for Deep-Blue Emitters with High Performance in Nondoped Spin-Coating OLEDs. ⁶¹	Feng W...Tang BZ	31711293	2020
9	Use of Oral Prednisolone and a 3-Phase Bone Scintigraphy in Patients with Complex Regional Pain Syndrome Type I. ⁶¹	Park S...Kim TH	31936474	2020
10	Transpancreatic biliary sphincterotomy for biliary access is safe also on a long-term scale. ⁶¹	Koskensalo V...Kylanpaa L	31993817	2020
11	Formation of Nanocomposite Solid Oxide Fuel Cell Cathodes by Preferential Clustering of Cations from a Single Polymeric Precursor. ⁶¹	Eksioglu A...Buyukaksoy A	31790191	2019
12	Criteria for difficult biliary cannulation: start to count. ⁶¹	Ismail S...Kylanpaa L	31464778	2019
13	Three-phase Technetium-99m bone scanning in patients with pain in the knee region after cemented total knee arthroplasty. ⁶¹	Hill DS...Toms AD	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	Gabriel EH...Cramer RJ	30501955	2019
15	Three-phase Bone Scintigraphy Can Predict the Analgesic Efficacy of Ketamine Therapy in CRPS. ⁶¹	Sorel M...Lefaucheur JP	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	Hill DS...Howell J	29192730	2018
17	The value of 99mTc-MDP bone SPECT/CT in evaluation of patients with painful knee prosthesis. ⁶¹	Mandegaran R...Gnanasegaran G	29553970	2018
18	Dopant driven tuning of the hydrogen oxidation mechanism at the pore/nickel/zirconia triple phase boundary. ⁶¹	Iskandarov AM...Tada T	29691523	2018
19	Utility of Radionuclide Bone Scintigraphy in Complex Regional Pain Syndrome. ⁶¹	Howard BA...Pyati S	29388057	2018
20	A High-Performing Direct Carbon Fuel Cell with a 3D Architectured Anode Operated Below 600 °C. ⁶¹	Wu W...He T	29218736	2018
21	Accuracy of diagnostic imaging modalities for peripheral post-traumatic osteomyelitis - a systematic review of the recent literature. ⁶¹	Govaert GA...Glaudemans AW	28451827	2017
22	Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus. ⁶¹	Schoner K...Ehmke N	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	Karimaghaloo A...Lee MH	31457472	2017
24	Three-phase bone scintigraphy for diagnosis of Charcot neuropathic osteoarthropathy in the diabetic foot - does quantitative data improve diagnostic value? ⁶¹	Fosbol M...Zerahn B	26147681	2017
25	A novel approach of 67-Gallium-citrate three-phase bone scan to diagnose bone infection: A report of three cases. ⁶¹	Kumar K	27833310	2016
26	Higher reliability of triple-phase bone scintigraphy in cementless total hip arthroplasty compared to cementless bipolar hemiarthroplasty. ⁶¹	Yoldas B...Tabak Y	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	Kim YW...Kim HS	27495051	2016
28	Electrochemically Scavenging the Silica Impurities at the Ni-YSZ Triple Phase Boundary of Solid Oxide Cells. ⁶¹	Tao Y...Cheng S	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	Kumar R...Malhotra R	26850923	2016
30	Helium stability and its interaction with H in α-Al2O3: a first-principles study. ⁶¹	Zhang G...Wang X	26674752	2016
31	A FURTHER PATIENT OF PURE 15q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS. ⁶¹	Solmaz AE...Ozkinay F	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	Zhu YC...Luttrell R	27324587	2016
33	[Intrarectal povidone-iodine to reduce the risk of genitourinary infections after transrectal prostate biopsy]. ⁶¹	Moreno-Palacios J...Serrano-Brambila E	26506491	2015
34	Significant impact of transperineal template biopsy of the prostate at a single tertiary institution. ⁶¹	Huang S...Grummet JP	26692659	2015
35	Three phase bone scan interpretation based upon vascular endothelial response. ⁶¹	Kumar K	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	Shagos GS...Sarma M	25829725	2015
37	Predictive value of sympathetic skin response in diagnosing complex regional pain syndrome: a case-control study. ⁶¹	Kim HJ...Park YG	25750880	2015
38	Prosthesis infection: diagnosis after total joint arthroplasty with three-phase bone scintigraphy. ⁶¹	Ouyang Z...Li X	25169788	2014
39	[Bone resorption in posttraumatic dystrophy. Root cause analysis based on the literature]. ⁶¹	Scola A...Scola E	25274392	2014
40	Osteoprotegerin: a new biomarker for impaired bone metabolism in complex regional pain syndrome? ⁶¹	Kramer HH...Birklein F	24447513	2014
41	Water sorption, solubility, and resultant change in strength among three resin-based dental composites. ⁶¹	Kumar N...Sangi L	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	Mainka T...Maier C	24333949	2014
43	A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. ⁶¹	Sher G...Naeem M	24269551	2014
44	Augmentation method of triple phase boundary in thin film solid oxide fuel cell via physical vapor deposition. ⁶¹	Park T...Cha SW	24266148	2013
45	The trigger-maintenance model of persistent mild to moderate hyperoxaluria induces oxalate accumulation in non-renal tissues. ⁶¹	Marengo SR...Romani AM	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	Liu T...Bouwmeester HJ	24020639	2013
47	Skull base osteomyelitis in otitis externa: The utility of triphasic and single photon emission computed tomography/computed tomography bone scintigraphy. ⁶¹	Chakraborty D...Mittal BR	24163508	2013
48	Usefulness of asymmetry score on quantitative three-phase bone scintigraphy in the evaluation of complex regional pain syndrome. ⁶¹	Sampath S...Sharma A	24019668	2013
49	Enhancing charge transfer kinetics by nanoscale catalytic cermet interlayer. ⁶¹	An J...Prinz FB	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	Moon JY...Oh SW	22293544	2012

Sources

Genes for Temtamy Preaxial Brachydactyly Syndrome

Genes related to Temtamy Preaxial Brachydactyly Syndrome (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CHSY1	Chondroitin Sulfate Synthase 1	Protein Coding	1698.1	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	9823490 19952732 21129727 (more) 21129728
2	TGDS	TDP-Glucose 4,6-Dehydratase	Protein Coding	6.26	DISEASES inferred ¹⁵
3	B3GALT6	Beta-1,3-Galactosyltransferase 6	Protein Coding	6.26	DISEASES inferred ¹⁵
4	CSGALNACT1	Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1	Protein Coding	6.08	DISEASES inferred ¹⁵
5	CHPF2	Chondroitin Polymerizing Factor 2	Protein Coding	5.97	DISEASES inferred ¹⁵
6	EXTL1	Exostosin Like Glycosyltransferase 1	Protein Coding	5.94	DISEASES inferred ¹⁵
7	DSEL	Dermatan Sulfate Epimerase Like	Protein Coding	5.92	DISEASES inferred ¹⁵
8	B3GAT3	Beta-1,3-Glucuronyltransferase 3	Protein Coding	5.86	DISEASES inferred ¹⁵
9	CHPF	Chondroitin Polymerizing Factor	Protein Coding	5.84	DISEASES inferred ¹⁵
10	XYLT1	Xylosyltransferase 1	Protein Coding	5.77	DISEASES inferred ¹⁵
11	B4GALT7	Beta-1,4-Galactosyltransferase 7	Protein Coding	5.71	DISEASES inferred ¹⁵
12	EXT1	Exostosin Glycosyltransferase 1	Protein Coding	5.68	DISEASES inferred ¹⁵
13	NDST1	N-Deacetylase And N-Sulfotransferase 1	Protein Coding	5.67	DISEASES inferred ¹⁵
14	CHST3	Carbohydrate Sulfotransferase 3	Protein Coding	5.66	DISEASES inferred ¹⁵

Sources

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, 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		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

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Expression for Temtamy Preaxial Brachydactyly Syndrome

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

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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	Metabolism ⁶⁵ Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶⁵	13.75	XYLT1 TGDS NDST1 EXTL1 EXT1 DSEL
2	Chondroitin sulfate/dermatan sulfate metabolism ⁶⁵ Show member pathways A tetrasaccharide linker sequence is required for GAG synthesis ⁶⁵ chondroitin biosynthesis ¹ Chondroitin sulfate biosynthesis ⁶⁵ CS/DS degradation ⁶⁵ Defective B3GALT6 causes EDSP2 and SEMDJL1 ⁶⁵ Defective B3GAT3 causes JDSSDHD ⁶⁵ Defective B4GALT7 causes EDS, progeroid type ⁶⁵ Defective CHST14 causes EDS, musculocontractural type ⁶⁵ Defective CHST3 causes SEDCJD ⁶⁵ Defective CHSY1 causes TPBS ⁶⁵ Defective EXT1 causes exostoses 1, TRPS2 and CHDS ⁶⁵ Defective EXT2 causes exostoses 2 ⁶⁵ dermatan sulfate biosynthesis ¹ Dermatan sulfate biosynthesis ⁶⁵ dermatan sulfate biosynthesis (late stages) ¹ Diseases associated with glycosaminoglycan metabolism ⁶⁵ glycoaminoglycan-protein linkage region biosynthesis ¹ Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate ³⁶ Glypican pathway ¹ HS-GAG degradation ⁶⁵ Proteogylcan syndecan-mediated signaling events ¹	12.16	XYLT1 DSEL CSGALNACT1 CHSY1 CHST3 CHPF2
3	Glycosaminoglycan metabolism ⁶⁵ Show member pathways chondroitin sulfate biosynthesis ¹ chondroitin sulfate biosynthesis (late stages) ¹ Heparan sulfate/heparin (HS-GAG) metabolism ⁶⁵ HS-GAG biosynthesis ⁶⁵ Hyaluronan biosynthesis and export ⁶⁵ Hyaluronan metabolism ⁶⁵ Hyaluronan uptake and degradation ⁶⁵ Metabolism of carbohydrates ⁶⁵	12.15	XYLT1 NDST1 EXT1 DSEL CSGALNACT1 CHSY1
4	heparan sulfate biosynthesis ¹ Show member pathways Glycosaminoglycan biosynthesis - heparan sulfate / heparin ³⁶ heparan sulfate biosynthesis (late stages) ¹	11.53	XYLT1 NDST1 EXTL1 EXT1 B4GALT7 B3GAT3

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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

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Temtamy Preaxial Brachydactyly Syndrome (TPBS)

Aliases & Classifications for Temtamy Preaxial Brachydactyly Syndrome

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Expression for Temtamy Preaxial Brachydactyly Syndrome

Pathways for Temtamy Preaxial Brachydactyly Syndrome

Pathways related to Temtamy Preaxial Brachydactyly Syndrome according to KEGG:

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

GO Terms for Temtamy Preaxial Brachydactyly Syndrome

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

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

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

Sources for Temtamy Preaxial Brachydactyly Syndrome