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MCID: SGL002
MIFTS: 24

Sagliker Syndrome

Categories: Bone diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Sagliker Syndrome

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MalaCards integrated aliases for Sagliker Syndrome:

Name: Sagliker Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
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: 58  
Rare bone diseases


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Summaries for Sagliker Syndrome

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

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Related Diseases for Sagliker Syndrome

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 chronic kidney disease 30.0 GNAS CASR
2 secondary hyperparathyroidism 10.7
3 hyperparathyroidism 10.7
4 kidney disease 10.6
5 end stage renal failure 10.4
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 overgrowth syndrome 10.1
17 thyroid carcinoma 10.1
18 osteitis fibrosa 9.7 GNAS CASR
19 metaphyseal chondrodysplasia, jansen type 9.7 GNAS CASR
20 chondrodysplasia, blomstrand type 9.7 GNAS CASR
21 phosphorus metabolism disease 9.7 GNAS CASR
22 metal metabolism disorder 9.7 GNAS CASR
23 hypocalcemia, autosomal dominant 1 9.6 GNAS CASR
24 hyperphosphatemia 9.6 GNAS CASR
25 parathyroid adenoma 9.6 GNAS CASR
26 adenoma 9.6 GNAS CASR
27 hypoparathyroidism 9.6 GNAS CASR
28 primary hyperparathyroidism 9.5 GNAS CASR
29 multiple endocrine neoplasia, type i 9.5 GNAS CASR
30 osteoporosis 9.2 GNAS CASR

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



Diseases related to Sagliker Syndrome
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Symptoms & Phenotypes for Sagliker Syndrome

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Human phenotypes related to Sagliker Syndrome:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dentition 58 31 hallmark (90%) Very frequent (99-80%) HP:0000164
2 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 elevated circulating parathyroid hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003165
5 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
6 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
7 abnormality of the lower limb 58 31 frequent (33%) Frequent (79-30%) HP:0002814
8 high-frequency hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0005101
9 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
10 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
11 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
12 abnormality of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001167
13 mouth neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0012290
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Drugs & Therapeutics for Sagliker Syndrome

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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

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MalaCards organs/tissues related to Sagliker Syndrome:

40
Kidney, Bone, Thyroid
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Publications for Sagliker Syndrome

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Articles related to Sagliker Syndrome:

(show all 25)
# Title Authors PMID Year
1
[Severe facial malformation caused by secondary hyperparathyroidism in uremia: report of 4 cases]. 61
31887819 2019
2
Sagliker Syndrome. 61
31836134 2019
3
Sagliker syndrome: A case report of a rare manifestation of uncontrolled secondary hyperparathyroidism in chronic renal failure. 61
31799306 2019
4
Sagliker syndrome in a patient with end-stage renal disease with secondary hyperparathyroidism. 61
31656444 2019
5
Sagliker Syndrome in a Patient with Secondary Hyperparathyroidism and Chronic Renal Insufficiency: A Case Report. 61
29998151 2018
6
Oral and maxillofacial manifestations of chronic kidney disease-mineral and bone disorder: a multicenter retrospective study. 61
29104033 2018
7
Chromosomal findings and sequence analysis of target exons of calcium-sensingreceptor (CaSR) gene in patients with Sagliker syndrome. 61
28263480 2017
8
Sagliker syndrome: first four cases in Bulgaria. 61
27545627 2016
9
Gene mutations in chronic kidney disease patients with secondary hyperparathyroidism and Sagliker syndrome. 61
25701941 2015
10
Sagliker syndrome in patients with secondary hyperparathyroidism and chronic renal failure: Case report. 61
25661637 2015
11
[A case of Sagliker syndrome and literature review]. 61
25355264 2014
12
[A case of a 13-year old girl with Sagliker syndrome]. 61
25224245 2014
13
Clinical status of Sagliker syndrome: a case report and literature review. 61
24575953 2014
14
Diagnosis and treatment of Sagliker syndrome: a case series from Iran. 61
24413727 2014
15
Severe renal osteodystrophy in a pediatric patient with end-stage renal disease: Sagliker syndrome? 61
23026501 2013
16
Symmetrical craniofacial hypertrophy in patients with tertiary hyperparathyroidism and high-dose cinacalcet exposure. 61
23228066 2012
17
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. 61
22200434 2012
18
[Total parathyroidectomy in treatment of Sagliker syndrome in 10 cases of hemodialysing patients with secondary hyperparathyroidism]. 61
22041265 2011
19
Audiological findings in chronic kidney disease patients with Sagliker syndrome. 61
20797572 2010
20
A controlled study of psychiatric manifestations and electroencephalography findings in chronic kidney disease patients with Sagliker syndrome. 61
20797571 2010
21
Is survival enough for quality of life in Sagliker Syndrome-uglifying human face appearances in chronic kidney disease? 61
18446747 2008
22
International study on Sagliker syndrome and uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic kidney disease patients. 61
18089456 2008
23
Neurologic manifestations in Sagliker syndrome: uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic renal failure patients. 61
16825026 2006
24
Cephalometric evaluation of patients with Sagliker syndrome: uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic renal failure patients. 61
16825025 2006
25
Sagliker syndrome: uglifying human face appearance in late and severe secondary hyperparathyroidism in chronic renal failure. 61
15490409 2004
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Variations for Sagliker Syndrome

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Expression for Sagliker Syndrome

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Search GEO for disease gene expression data for Sagliker Syndrome.
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Pathways for Sagliker Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Parathyroid hormone synthesis, secretion and action 36
10.98 GNAS CASR
2
Proton Pump Inhibitor Pathway, Pharmacodynamics 60
10.29 GNAS CASR
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GO Terms for Sagliker Syndrome

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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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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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