TPBS
MCID: TMT002
MIFTS: 39

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 57 12 53 59 74 37 29 13 6 15 72
Preaxial Brachydactyly Syndrome, Temtamy Type 57 12 53
Tpbs 57 74
Mental Retardation Syndrome with Preaxial Brachydactyly, Hyperphalangism, Deafness and Orodental Anomalies 53
Preaxial Brachydactyly Syndrome Temtamy Type 74
Brachydactyly, Temtamy, Preaxial, Syndrome 40

Characteristics:

Orphanet epidemiological data:

59
temtamy preaxial brachydactyly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
temtamy preaxial brachydactyly syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050814
OMIM 57 605282
KEGG 37 H01497
MeSH 44 D000015
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 73 C1854466
Orphanet 59 ORPHA363417
MedGen 42 C1854466
UMLS 72 C1854466

Summaries for Temtamy Preaxial Brachydactyly Syndrome

KEGG : 37
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 is Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate. Affiliated tissues include bone, eye and brain, and related phenotypes are optic atrophy and cleft palate

Disease Ontology : 12 An autosomal recessive disease 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 : 74 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:

# 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 triiodothyronine receptor auxiliary protein 10.2
7 cervical cancer 10.2
8 trypanosomiasis 10.2
9 complex regional pain syndrome 10.2

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:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 32 occasional (7.5%) HP:0000648
2 cleft palate 32 occasional (7.5%) HP:0000175
3 radioulnar synostosis 32 occasional (7.5%) HP:0002974
4 blue sclerae 32 occasional (7.5%) HP:0000592
5 clinodactyly 32 very rare (1%) HP:0030084
6 global developmental delay 32 very rare (1%) HP:0001263
7 microdontia 32 very rare (1%) HP:0000691
8 syndactyly 32 very rare (1%) HP:0001159
9 talon cusp 32 very rare (1%) HP:0011087
10 hitchhiker thumb 32 very rare (1%) HP:0001234
11 hypertelorism 32 HP:0000316
12 highly arched eyebrow 32 HP:0002553
13 brachydactyly 32 HP:0001156
14 deep philtrum 32 HP:0002002
15 synophrys 32 HP:0000664
16 plagiocephaly 32 HP:0001357
17 short metacarpal 32 HP:0010049
18 tarsal synostosis 32 HP:0008368
19 short metatarsal 32 HP:0010743
20 bilateral sensorineural hearing impairment 32 HP:0008619
21 carpal synostosis 32 HP:0009702
22 diastema 32 HP:0000699

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Temtamy Preaxial Brachydactyly Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 BMP4 CHSY1 TGDS
2 skeleton MP:0005390 8.8 BMP4 CHSY1 TGDS

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

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:

41
Bone, Eye, Brain, Prostate, Skin, Salivary Gland, B Cells

Publications for Temtamy Preaxial Brachydactyly Syndrome

Articles related to Temtamy Preaxial Brachydactyly Syndrome:

(show top 50) (show all 87)
# 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. 38 8 71
21129728 2010
2
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. 8 71
21129727 2010
3
A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism. 8 71
19952732 2010
4
A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies. 8 71
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? 8
15365460 2004
6
Three-phase Technetium-99m bone scanning in patients with pain in the knee region after cemented total knee arthroplasty. 38
30888518 2019
7
Health Belief Model Scale and Theory of Planned Behavior Scale to assess attitudes and perceptions of injury prevention program participation: An exploratory factor analysis. 38
30501955 2019
8
Three-phase Bone Scintigraphy Can Predict the Analgesic Efficacy of Ketamine Therapy in CRPS. 38
29538095 2018
9
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. 38
29192730 2018
10
The value of 99mTc-MDP bone SPECT/CT in evaluation of patients with painful knee prosthesis. 38
29553970 2018
11
Dopant driven tuning of the hydrogen oxidation mechanism at the pore/nickel/zirconia triple phase boundary. 38
29691523 2018
12
Utility of Radionuclide Bone Scintigraphy in Complex Regional Pain Syndrome. 38
29388057 2018
13
A High-Performing Direct Carbon Fuel Cell with a 3D Architectured Anode Operated Below 600 °C. 38
29218736 2018
14
Accuracy of diagnostic imaging modalities for peripheral post-traumatic osteomyelitis - a systematic review of the recent literature. 38
28451827 2017
15
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus. 38
28422407 2017
16
Three-phase bone scintigraphy for diagnosis of Charcot neuropathic osteoarthropathy in the diabetic foot - does quantitative data improve diagnostic value? 38
26147681 2017
17
A novel approach of 67-Gallium-citrate three-phase bone scan to diagnose bone infection: A report of three cases. 38
27833310 2016
18
Higher reliability of triple-phase bone scintigraphy in cementless total hip arthroplasty compared to cementless bipolar hemiarthroplasty. 38
27508079 2016
19
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. 38
27495051 2016
20
Electrochemically Scavenging the Silica Impurities at the Ni-YSZ Triple Phase Boundary of Solid Oxide Cells. 38
27352122 2016
21
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. 38
26850923 2016
22
Helium stability and its interaction with H in α-Al2O3: a first-principles study. 38
26674752 2016
23
A FURTHER PATIENT OF PURE 15q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS. 38
27192887 2016
24
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. 38
27324587 2016
25
[Intrarectal povidone-iodine to reduce the risk of genitourinary infections after transrectal prostate biopsy]. 38
26506491 2015
26
Significant impact of transperineal template biopsy of the prostate at a single tertiary institution. 38
26692659 2015
27
Three phase bone scan interpretation based upon vascular endothelial response. 38
25829726 2015
28
18-F flourodeoxy glucose positron emission tomography-computed tomography imaging: A viable alternative to three phase bone scan in evaluating diabetic foot complications? 38
25829725 2015
29
Predictive value of sympathetic skin response in diagnosing complex regional pain syndrome: a case-control study. 38
25750880 2015
30
Prosthesis infection: diagnosis after total joint arthroplasty with three-phase bone scintigraphy. 38
25169788 2014
31
[Bone resorption in posttraumatic dystrophy. Root cause analysis based on the literature]. 38
25274392 2014
32
Water sorption, solubility, and resultant change in strength among three resin-based dental composites. 38
23188774 2014
33
Osteoprotegerin: a new biomarker for impaired bone metabolism in complex regional pain syndrome? 38
24447513 2014
34
Comparison of muscle and joint pressure-pain thresholds in patients with complex regional pain syndrome and upper limb pain of other origin. 38
24333949 2014
35
A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. 38
24269551 2014
36
Augmentation method of triple phase boundary in thin film solid oxide fuel cell via physical vapor deposition. 38
24266148 2013
37
The trigger-maintenance model of persistent mild to moderate hyperoxaluria induces oxalate accumulation in non-renal tissues. 38
23821183 2013
38
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. 38
24020639 2013
39
Skull base osteomyelitis in otitis externa: The utility of triphasic and single photon emission computed tomography/computed tomography bone scintigraphy. 38
24163508 2013
40
Usefulness of asymmetry score on quantitative three-phase bone scintigraphy in the evaluation of complex regional pain syndrome. 38
24019668 2013
41
Enhancing charge transfer kinetics by nanoscale catalytic cermet interlayer. 38
23151148 2012
42
Analysis of patterns of three-phase bone scintigraphy for patients with complex regional pain syndrome diagnosed using the proposed research criteria (the 'Budapest Criteria'). 38
22293544 2012
43
A luminescent affinity tag for proteins based on the terbium(III)-binding peptide. 38
22266297 2012
44
Diagnostic performance of three-phase bone scan for complex regional pain syndrome type 1 with optimally modified image criteria. 38
24900016 2011
45
[Bilateral metachronous complex regional pain syndrome (CRPS I) of the lands - diagnosis with quantitative TPBS (3 phase scintigraphy)]. 38
21246476 2011
46
Pilocytic astrocytomas have telomere-associated promyelocytic leukemia bodies without alternatively lengthened telomeres. 38
21037079 2010
47
Extent of thoracic aortic atheroma burden and long-term mortality after cardiothoracic surgery: a computed tomography study. 38
20947047 2010
48
Sensitivity and specificity of 3-phase bone scintigraphy in the diagnosis of complex regional pain syndrome of the upper extremity. 38
20173431 2010
49
Patterns of three-phase bone scintigraphy according to the time course of complex regional pain syndrome type I after a stroke or traumatic brain injury. 38
19851172 2009
50
FDG-PET in patients with painful hip and knee arthroplasty: technical breakthrough or just more of the same. 38
19182727 2009

Variations for Temtamy Preaxial Brachydactyly Syndrome

ClinVar genetic disease variations for Temtamy Preaxial Brachydactyly Syndrome:

6 (show all 18)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CHSY1 CHSY1, 30-BP DEL, NT55 deletion Pathogenic
2 CHSY1 NM_014918.5(CHSY1): c.14del (p.Gly5fs) deletion Pathogenic 15:101791648-101791648 15:101251443-101251443
3 CHSY1 NM_014918.5(CHSY1): c.205C> T (p.Gln69Ter) single nucleotide variant Pathogenic rs387906984 15:101791457-101791457 15:101251252-101251252
4 CHSY1 NM_014918.5(CHSY1): c.321-3C> G single nucleotide variant Pathogenic 15:101775785-101775785 15:101235580-101235580
5 CHSY1 NM_014918.5(CHSY1): c.1616C> G (p.Pro539Arg) single nucleotide variant Pathogenic rs387906985 15:101718386-101718386 15:101178181-101178181
6 CHSY1 CHSY1, 1-BP DEL, 96C deletion Pathogenic
7 CHSY1 NM_014918.5(CHSY1): c.1312C> T (p.Arg438Trp) single nucleotide variant Uncertain significance 15:101718690-101718690 15:101178485-101178485
8 CHSY1 NM_014918.5(CHSY1): c.1111G> A (p.Glu371Lys) single nucleotide variant Uncertain significance 15:101718891-101718891 15:101178686-101178686
9 CHSY1 NM_014918.5(CHSY1): c.730C> T (p.Arg244Trp) single nucleotide variant Uncertain significance 15:101775373-101775373 15:101235168-101235168
10 CHSY1 NM_014918.5(CHSY1): c.535G> T (p.Asp179Tyr) single nucleotide variant Uncertain significance 15:101775568-101775568 15:101235363-101235363
11 CHSY1 NM_014918.5(CHSY1): c.1006C> T (p.Arg336Cys) single nucleotide variant Uncertain significance rs1320280755 15:101718996-101718996 15:101178791-101178791
12 CHSY1 NM_014918.5(CHSY1): c.179_190dup (p.Gly60_Gly63dup) duplication Uncertain significance rs1555437965 15:101791472-101791483 15:101251267-101251278
13 CHSY1 NM_014918.5(CHSY1): c.1218C> T (p.Asp406=) single nucleotide variant Benign/Likely benign rs113219895 15:101718784-101718784 15:101178579-101178579
14 CHSY1 NM_014918.5(CHSY1): c.1052A> G (p.Lys351Arg) single nucleotide variant Benign rs74752435 15:101718950-101718950 15:101178745-101178745
15 CHSY1 NM_014918.5(CHSY1): c.1812G> A (p.Val604=) single nucleotide variant Benign rs3803422 15:101718190-101718190 15:101177985-101177985
16 CHSY1 NM_014918.5(CHSY1): c.1473A> G (p.Gln491=) single nucleotide variant Benign rs76457230 15:101718529-101718529 15:101178324-101178324
17 CHSY1 NM_014918.5(CHSY1): c.1896C> T (p.Val632=) single nucleotide variant Benign rs3803423 15:101718106-101718106 15:101177901-101177901
18 CHSY1 NM_014918.5(CHSY1): c.333G> A (p.Lys111=) single nucleotide variant Benign rs117481449 15:101775770-101775770 15:101235565-101235565

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

74
# 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:

37
# Name Kegg Source Accession
1 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate hsa00532

GO Terms for Temtamy Preaxial Brachydactyly Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cartilage development GO:0051216 8.62 CHSY1 BMP4

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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