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

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
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 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:

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: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly involving limbs

Orphanet: ⁵⁹

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 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

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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

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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:

#	Related Disease	Score
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:

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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

Sources

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

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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:

⁴¹

Bone, Eye, Brain, Prostate, Skin, 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 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	Li Y...Wollnik B	21129728	2010
2	Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. ⁸ ⁷¹	Tian J...Reversade B	21129727	2010
3	A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism. ⁸ ⁷¹	Race H...Wakeling EL	19952732	2010
4	A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies. ⁸ ⁷¹	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? ⁸	Clarkson JH...Moss AL	15365460	2004
6	Three-phase Technetium-99m bone scanning in patients with pain in the knee region after cemented total knee arthroplasty. ³⁸	Hill DS...Toms AD	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	Gabriel EH...Cramer RJ	30501955	2019
8	Three-phase Bone Scintigraphy Can Predict the Analgesic Efficacy of Ketamine Therapy in CRPS. ³⁸	Sorel M...Lefaucheur JP	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	Hill DS...Howell J	29192730	2018
10	The value of 99mTc-MDP bone SPECT/CT in evaluation of patients with painful knee prosthesis. ³⁸	Mandegaran R...Gnanasegaran G	29553970	2018
11	Dopant driven tuning of the hydrogen oxidation mechanism at the pore/nickel/zirconia triple phase boundary. ³⁸	Iskandarov AM...Tada T	29691523	2018
12	Utility of Radionuclide Bone Scintigraphy in Complex Regional Pain Syndrome. ³⁸	Howard BA...Pyati S	29388057	2018
13	A High-Performing Direct Carbon Fuel Cell with a 3D Architectured Anode Operated Below 600 °C. ³⁸	Wu W...He T	29218736	2018
14	Accuracy of diagnostic imaging modalities for peripheral post-traumatic osteomyelitis - a systematic review of the recent literature. ³⁸	Govaert GA...Glaudemans AW	28451827	2017
15	Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus. ³⁸	Schoner K...Ehmke N	28422407	2017
16	Three-phase bone scintigraphy for diagnosis of Charcot neuropathic osteoarthropathy in the diabetic foot - does quantitative data improve diagnostic value? ³⁸	Fosbol M...Zerahn B	26147681	2017
17	A novel approach of 67-Gallium-citrate three-phase bone scan to diagnose bone infection: A report of three cases. ³⁸	Kumar K	27833310	2016
18	Higher reliability of triple-phase bone scintigraphy in cementless total hip arthroplasty compared to cementless bipolar hemiarthroplasty. ³⁸	Yoldas B...Tabak Y	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	Kim YW...Kim HS	27495051	2016
20	Electrochemically Scavenging the Silica Impurities at the Ni-YSZ Triple Phase Boundary of Solid Oxide Cells. ³⁸	Tao Y...Cheng S	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	Kumar R...Malhotra R	26850923	2016
22	Helium stability and its interaction with H in α-Al2O3: a first-principles study. ³⁸	Zhang G...Wang X	26674752	2016
23	A FURTHER PATIENT OF PURE 15q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS. ³⁸	Solmaz AE...Ozkinay F	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	Zhu YC...Luttrell R	27324587	2016
25	[Intrarectal povidone-iodine to reduce the risk of genitourinary infections after transrectal prostate biopsy]. ³⁸	Moreno-Palacios J...Serrano-Brambila E	26506491	2015
26	Significant impact of transperineal template biopsy of the prostate at a single tertiary institution. ³⁸	Huang S...Grummet JP	26692659	2015
27	Three phase bone scan interpretation based upon vascular endothelial response. ³⁸	Kumar K	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	Shagos GS...Sarma M	25829725	2015
29	Predictive value of sympathetic skin response in diagnosing complex regional pain syndrome: a case-control study. ³⁸	Kim HJ...Park YG	25750880	2015
30	Prosthesis infection: diagnosis after total joint arthroplasty with three-phase bone scintigraphy. ³⁸	Ouyang Z...Li X	25169788	2014
31	[Bone resorption in posttraumatic dystrophy. Root cause analysis based on the literature]. ³⁸	Scola A...Scola E	25274392	2014
32	Water sorption, solubility, and resultant change in strength among three resin-based dental composites. ³⁸	Kumar N...Sangi L	23188774	2014
33	Osteoprotegerin: a new biomarker for impaired bone metabolism in complex regional pain syndrome? ³⁸	Kramer HH...Birklein F	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	Mainka T...Maier C	24333949	2014
35	A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. ³⁸	Sher G...Naeem M	24269551	2014
36	Augmentation method of triple phase boundary in thin film solid oxide fuel cell via physical vapor deposition. ³⁸	Park T...Cha SW	24266148	2013
37	The trigger-maintenance model of persistent mild to moderate hyperoxaluria induces oxalate accumulation in non-renal tissues. ³⁸	Marengo SR...Romani AM	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	Liu T...Bouwmeester HJ	24020639	2013
39	Skull base osteomyelitis in otitis externa: The utility of triphasic and single photon emission computed tomography/computed tomography bone scintigraphy. ³⁸	Chakraborty D...Mittal BR	24163508	2013
40	Usefulness of asymmetry score on quantitative three-phase bone scintigraphy in the evaluation of complex regional pain syndrome. ³⁸	Sampath S...Sharma A	24019668	2013
41	Enhancing charge transfer kinetics by nanoscale catalytic cermet interlayer. ³⁸	An J...Prinz FB	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	Moon JY...Oh SW	22293544	2012
43	A luminescent affinity tag for proteins based on the terbium(III)-binding peptide. ³⁸	Sueda S...Komatsu H	22266297	2012
44	Diagnostic performance of three-phase bone scan for complex regional pain syndrome type 1 with optimally modified image criteria. ³⁸	Kwon HW...Lee DS	24900016	2011
45	[Bilateral metachronous complex regional pain syndrome (CRPS I) of the lands - diagnosis with quantitative TPBS (3 phase scintigraphy)]. ³⁸	Pennekamp W...Maier C	21246476	2011
46	Pilocytic astrocytomas have telomere-associated promyelocytic leukemia bodies without alternatively lengthened telomeres. ³⁸	Slatter T...Hung N	21037079	2010
47	Extent of thoracic aortic atheroma burden and long-term mortality after cardiothoracic surgery: a computed tomography study. ³⁸	Kurra V...Schoenhagen P	20947047	2010
48	Sensitivity and specificity of 3-phase bone scintigraphy in the diagnosis of complex regional pain syndrome of the upper extremity. ³⁸	Wuppenhorst N...Nicolas V	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	Park SA...Lee M	19851172	2009
50	FDG-PET in patients with painful hip and knee arthroplasty: technical breakthrough or just more of the same. ³⁸	Reinartz P	19182727	2009

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Genes for Temtamy Preaxial Brachydactyly Syndrome

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CHSY1	Chondroitin Sulfate Synthase 1	Protein Coding	1708.6	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁴ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	19952732 9823490 21129727 (more) 21129728
2	TGDS	TDP-Glucose 4,6-Dehydratase	Protein Coding	17.32	DISEASES inferred ¹⁵
3	BMP4	Bone Morphogenetic Protein 4	Protein Coding	14.95	DISEASES inferred ¹⁵

Sources

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

Sources

Expression for Temtamy Preaxial Brachydactyly Syndrome

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

Sources

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

Sources

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

Sources for Temtamy Preaxial Brachydactyly Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Temtamy Preaxial Brachydactyly Syndrome (TPBS)

Aliases & Classifications for Temtamy Preaxial Brachydactyly Syndrome

MalaCards integrated aliases for Temtamy Preaxial Brachydactyly Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Temtamy Preaxial Brachydactyly Syndrome

Related Diseases for Temtamy Preaxial Brachydactyly Syndrome

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

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

Symptoms & Phenotypes for Temtamy Preaxial Brachydactyly Syndrome

Human phenotypes related to Temtamy Preaxial Brachydactyly Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Temtamy Preaxial Brachydactyly Syndrome:

Drugs & Therapeutics for Temtamy Preaxial Brachydactyly Syndrome

Interventional clinical trials:

Genetic Tests for Temtamy Preaxial Brachydactyly Syndrome

Genetic tests related to Temtamy Preaxial Brachydactyly Syndrome:

Anatomical Context for Temtamy Preaxial Brachydactyly Syndrome

MalaCards organs/tissues related to Temtamy Preaxial Brachydactyly Syndrome:

Publications for Temtamy Preaxial Brachydactyly Syndrome

Articles related to Temtamy Preaxial Brachydactyly Syndrome:

Genes for Temtamy Preaxial Brachydactyly Syndrome

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

Variations for Temtamy Preaxial Brachydactyly Syndrome

ClinVar genetic disease variations for Temtamy Preaxial Brachydactyly Syndrome:

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

Expression for Temtamy Preaxial Brachydactyly Syndrome

Pathways for Temtamy Preaxial Brachydactyly Syndrome

Pathways related to Temtamy Preaxial Brachydactyly Syndrome according to KEGG:

GO Terms for Temtamy Preaxial Brachydactyly Syndrome

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

Sources for Temtamy Preaxial Brachydactyly Syndrome