MCID: SGL002
MIFTS: 21

Sagliker Syndrome

Categories: Bone diseases, Rare diseases

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:

Orphanet: 59  
Rare bone diseases


Summaries for Sagliker Syndrome

MalaCards based summary : Sagliker Syndrome is related to secondary hyperparathyroidism of renal origin and hyperparathyroidism. An important gene associated with Sagliker Syndrome is GNAS (GNAS Complex Locus). Affiliated tissues include kidney and bone, and related phenotypes are frontal bossing and depressivity

Related Diseases for Sagliker Syndrome

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

# Related Disease Score Top Affiliating Genes
1 secondary hyperparathyroidism of renal origin 10.5
2 hyperparathyroidism 10.5
3 chronic kidney failure 10.4
4 kidney disease 10.4
5 renal osteodystrophy 10.0

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:

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

41
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
Sagliker syndrome in patients with secondary hyperparathyroidism and chronic renal failure: Case report. ( 25661637 )
2015
5
Gene mutations in chronic kidney disease patients with secondary hyperparathyroidism and Sagliker syndrome. ( 25701941 )
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
Audiological findings in chronic kidney disease patients with Sagliker syndrome. ( 20797572 )
2010
11
A controlled study of psychiatric manifestations and electroencephalography findings in chronic kidney disease patients with Sagliker syndrome. ( 20797571 )
2010
12
Is survival enough for quality of life in Sagliker Syndrome-uglifying human face appearances in chronic kidney disease? ( 18446747 )
2008
13
International study on Sagliker syndrome and uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic kidney disease patients. ( 18089456 )
2008
14
Neurologic manifestations in Sagliker syndrome: uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic renal failure patients. ( 16825026 )
2006
15
Cephalometric evaluation of patients with Sagliker syndrome: uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic renal failure patients. ( 16825025 )
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

Sources for Sagliker Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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