MCID: SGL002
MIFTS: 25

Sagliker Syndrome

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Sagliker Syndrome

MalaCards integrated aliases for Sagliker Syndrome:

Name: Sagliker Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
sagliker syndrome
Inheritance: Multigenic/multifactorial; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

Orphanet: 60  
Rare bone diseases


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

Related Diseases for Sagliker Syndrome

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 secondary hyperparathyroidism 10.5
2 hyperparathyroidism 10.5
3 chronic kidney failure 10.4
4 kidney disease 10.4
5 end stage renal failure 10.0
6 renal osteodystrophy 10.0
7 osteitis fibrosa 9.8 CASR GNAS
8 phosphorus metabolism disease 9.7 CASR GNAS
9 metal metabolism disorder 9.7 CASR GNAS
10 hypocalcemia, autosomal dominant 1 9.7 CASR GNAS
11 adenoma 9.7 CASR GNAS
12 hyperphosphatemia 9.6 CASR GNAS
13 multiple endocrine neoplasia, type i 9.5 CASR GNAS

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



Diseases related to Sagliker Syndrome

Symptoms & Phenotypes for Sagliker Syndrome

Human phenotypes related to Sagliker Syndrome:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dentition 60 33 hallmark (90%) Very frequent (99-80%) HP:0000164
2 abnormal facial shape 60 33 hallmark (90%) Very frequent (99-80%) HP:0001999
3 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
4 elevated circulating parathyroid hormone level 60 33 hallmark (90%) Very frequent (99-80%) HP:0003165
5 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
6 waddling gait 60 33 frequent (33%) Frequent (79-30%) HP:0002515
7 abnormality of the lower limb 60 33 frequent (33%) Frequent (79-30%) HP:0002814
8 high-frequency hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0005101
9 frontal bossing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002007
10 arthralgia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002829
11 anxiety 60 33 occasional (7.5%) Occasional (29-5%) HP:0000739
12 abnormality of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0001167
13 mouth neoplasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0012290

Drugs & Therapeutics for Sagliker Syndrome

Search Clinical Trials , NIH Clinical Center for Sagliker Syndrome

Genetic Tests for Sagliker Syndrome

Anatomical Context for Sagliker Syndrome

MalaCards organs/tissues related to Sagliker Syndrome:

42
Kidney, Bone

Publications for Sagliker Syndrome

Articles related to Sagliker Syndrome:

(show all 16)
# Title Authors Year
1
Sagliker Syndrome in a Patient with Secondary Hyperparathyroidism and Chronic Renal Insufficiency: A Case Report. ( 29998151 )
2018
2
Chromosomal findings and sequence analysis of target exons of calcium-sensingreceptor (CaSR) gene in patients with Sagliker syndrome. ( 28263480 )
2017
3
Sagliker syndrome: first four cases in Bulgaria. ( 27545627 )
2016
4
Gene mutations in chronic kidney disease patients with secondary hyperparathyroidism and Sagliker syndrome. ( 25701941 )
2015
5
Sagliker syndrome in patients with secondary hyperparathyroidism and chronic renal failure: Case report. ( 25661637 )
2015
6
Diagnosis and treatment of Sagliker syndrome: a case series from Iran. ( 24413727 )
2014
7
Clinical status of Sagliker syndrome: a case report and literature review. ( 24575953 )
2014
8
Severe renal osteodystrophy in a pediatric patient with end-stage renal disease: Sagliker syndrome? ( 23026501 )
2013
9
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. ( 22200434 )
2012
10
A controlled study of psychiatric manifestations and electroencephalography findings in chronic kidney disease patients with Sagliker syndrome. ( 20797571 )
2010
11
Audiological findings in chronic kidney disease patients with Sagliker syndrome. ( 20797572 )
2010
12
International study on Sagliker syndrome and uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic kidney disease patients. ( 18089456 )
2008
13
Is survival enough for quality of life in Sagliker Syndrome-uglifying human face appearances in chronic kidney disease? ( 18446747 )
2008
14
Cephalometric evaluation of patients with Sagliker syndrome: uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic renal failure patients. ( 16825025 )
2006
15
Neurologic manifestations in Sagliker syndrome: uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic renal failure patients. ( 16825026 )
2006
16
Sagliker syndrome: uglifying human face appearance in late and severe secondary hyperparathyroidism in chronic renal failure. ( 15490409 )
2004

Variations for Sagliker Syndrome

Expression for Sagliker Syndrome

Search GEO for disease gene expression data for Sagliker Syndrome.

Pathways for Sagliker Syndrome

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 CASR GNAS

Sources for Sagliker Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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