Sagliker Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Sagliker Syndrome

MalaCards integrated aliases for Sagliker Syndrome:

Name: Sagliker Syndrome ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

sagliker syndrome
Inheritance: Multigenic/multifactorial; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare bone diseases

External Ids:

Orphanet ⁵⁹ ORPHA300493

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Summaries for Sagliker Syndrome

MalaCards based summary : Sagliker Syndrome is related to secondary hyperparathyroidism and hyperparathyroidism. An important gene associated with Sagliker Syndrome is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and Parathyroid hormone synthesis, secretion and action. Affiliated tissues include kidney and bone, and related phenotypes are abnormality of the dentition and abnormal facial shape

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Related Diseases for Sagliker Syndrome

Diseases related to Sagliker Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)

#	Related Disease	Score	Top Affiliating Genes
1	secondary hyperparathyroidism	10.7
2	hyperparathyroidism	10.7
3	chronic kidney disease	10.6
4	kidney disease	10.6
5	end stage renal failure	10.3
6	bone disease	10.2
7	renal osteodystrophy	10.2
8	mccune-albright syndrome	10.1
9	microvascular complications of diabetes 3	10.1
10	microvascular complications of diabetes 4	10.1
11	microvascular complications of diabetes 6	10.1
12	microvascular complications of diabetes 7	10.1
13	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.1
14	polyneuropathy	10.1
15	glomerulonephritis	10.1
16	osteitis fibrosa	9.6	GNAS CASR
17	phosphorus metabolism disease	9.6	GNAS CASR
18	metal metabolism disorder	9.5	GNAS CASR
19	hypocalcemia, autosomal dominant 1	9.5	GNAS CASR
20	adenoma	9.5	GNAS CASR
21	hyperphosphatemia	9.4	GNAS CASR
22	multiple endocrine neoplasia, type i	9.2	GNAS CASR

Graphical network of the top 20 diseases related to Sagliker Syndrome:

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Symptoms & Phenotypes for Sagliker Syndrome

Human phenotypes related to Sagliker Syndrome:

⁵⁹ ³² (show all 13)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	abnormality of the dentition ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000164
2	abnormal facial shape ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001999
3	short stature ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004322
4	elevated circulating parathyroid hormone level ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003165
5	depressivity ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000716
6	waddling gait ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002515
7	abnormality of the lower limb ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002814
8	high-frequency hearing impairment ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0005101
9	frontal bossing ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002007
10	arthralgia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002829
11	anxiety ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000739
12	abnormality of finger ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001167
13	mouth neoplasm ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0012290

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Drugs & Therapeutics for Sagliker Syndrome

Search Clinical Trials , NIH Clinical Center for Sagliker Syndrome

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Genetic Tests for Sagliker Syndrome

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Anatomical Context for Sagliker Syndrome

MalaCards organs/tissues related to Sagliker Syndrome:

⁴¹

Kidney, Bone

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Publications for Sagliker Syndrome

Articles related to Sagliker Syndrome:

(show all 21)

#	Title	Authors	PMID	Year
1	Sagliker Syndrome in a Patient with Secondary Hyperparathyroidism and Chronic Renal Insufficiency: A Case Report. ³⁸	Shakeri S...Ayati N	29998151	2018
2	Oral and maxillofacial manifestations of chronic kidney disease-mineral and bone disorder: a multicenter retrospective study. ³⁸	Pontes FSC...Pontes HAR	29104033	2018
3	Chromosomal findings and sequence analysis of target exons of calcium-sensingreceptor (CaSR) gene in patients with Sagliker syndrome. ³⁸	Tunc E...Guzel AI	28263480	2017
4	Sagliker syndrome: first four cases in Bulgaria. ³⁸	Cholakova R...Kapon E	27545627	2016
5	Gene mutations in chronic kidney disease patients with secondary hyperparathyroidism and Sagliker syndrome. ³⁸	Demirhan O...Ozkaynak PS	25701941	2015
6	Sagliker syndrome in patients with secondary hyperparathyroidism and chronic renal failure: Case report. ³⁸	Mejia Pineda A...Penalonzo MA	25661637	2015
7	[A case of Sagliker syndrome and literature review]. ³⁸	Wu W...Ding B	25355264	2014
8	[A case of a 13-year old girl with Sagliker syndrome]. ³⁸	Liu J...Zhang H	25224245	2014
9	Clinical status of Sagliker syndrome: a case report and literature review. ³⁸	Chen XH...Nie Y	24575953	2014
10	Diagnosis and treatment of Sagliker syndrome: a case series from Iran. ³⁸	Mohebi-Nejad A...Mahdavi-Mazdeh M	24413727	2014
11	Severe renal osteodystrophy in a pediatric patient with end-stage renal disease: Sagliker syndrome? ³⁸	Yavascan O...Aksu N	23026501	2013
12	Symmetrical craniofacial hypertrophy in patients with tertiary hyperparathyroidism and high-dose cinacalcet exposure. ³⁸	Hamrahian M...Fulop T	23228066	2012
13	International evaluation of unrecognizably uglifying human faces in late and severe secondary hyperparathyroidism in chronic kidney disease. Sagliker syndrome. A unique catastrophic entity, cytogenetic studies for chromosomal abnormalities, calcium-sensing receptor gene and GNAS1 mutations. Striking and promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4. ³⁸	Yildiz I...Sekin O	22200434	2012
14	[Total parathyroidectomy in treatment of Sagliker syndrome in 10 cases of hemodialysing patients with secondary hyperparathyroidism]. ³⁸	Zhang L...Li WG	22041265	2011
15	Audiological findings in chronic kidney disease patients with Sagliker syndrome. ³⁸	Erkan AN...Ozluoglu L	20797572	2010
16	A controlled study of psychiatric manifestations and electroencephalography findings in chronic kidney disease patients with Sagliker syndrome. ³⁸	Ozenli Y...Adam SM	20797571	2010
17	Is survival enough for quality of life in Sagliker Syndrome-uglifying human face appearances in chronic kidney disease? ³⁸	Sagliker Y...Paylar N	18446747	2008
18	International study on Sagliker syndrome and uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic kidney disease patients. ³⁸	Sagliker Y...Kiralp N	18089456	2008
19	Cephalometric evaluation of patients with Sagliker syndrome: uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic renal failure patients. ³⁸	Uzel A...Kurt C	16825025	2006
20	Neurologic manifestations in Sagliker syndrome: uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic renal failure patients. ³⁸	Giray S...Kurt C	16825026	2006
21	Sagliker syndrome: uglifying human face appearance in late and severe secondary hyperparathyroidism in chronic renal failure. ³⁸	Sagliker Y...Chirik E	15490409	2004

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Genes for Sagliker Syndrome

Genes related to Sagliker Syndrome (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CASR	Calcium Sensing Receptor	Protein Coding	16.94	GeneCards inferred via : Publications (show sections)
2	GNAS	GNAS Complex Locus	Protein Coding	16.94	GeneCards inferred via : Publications (show sections)

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Variations for Sagliker Syndrome

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Expression for Sagliker Syndrome

Search GEO for disease gene expression data for Sagliker Syndrome.

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Pathways for Sagliker Syndrome

Pathways related to Sagliker Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Toll-like Receptor Signaling Pathway ³⁷ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁷ Hepatitis B ³⁷ Hepatitis C ³⁷ NOD-like Receptor Signaling Pathways ⁶⁵ Regulation of toll-like receptor signaling pathway ¹	12.09	GNAS CASR
2	Parathyroid hormone synthesis, secretion and action ³⁷	10.98	GNAS CASR
3	Proton Pump Inhibitor Pathway, Pharmacodynamics ⁶¹	10.29	GNAS CASR

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GO Terms for Sagliker Syndrome

Cellular components related to Sagliker Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	apical plasma membrane	GO:0016324	8.62	GNAS CASR

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Sources for Sagliker Syndrome

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