MCID: SYN079
MIFTS: 26

Syndromic X-Linked Intellectual Disability Siderius Type

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Syndromic X-Linked Intellectual Disability Siderius Type

MalaCards integrated aliases for Syndromic X-Linked Intellectual Disability Siderius Type:

Name: Syndromic X-Linked Intellectual Disability Siderius Type 12 29 6 15
Siderius X-Linked Mental Retardation Syndrome 70
Siderius-Hamel Syndrome 12
Mrxssd 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060812
MeSH 44 C537333
UMLS 70 C1846055

Summaries for Syndromic X-Linked Intellectual Disability Siderius Type

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has material basis in mutation in the PHF8 gene on chromosome Xp11.22.

MalaCards based summary : Syndromic X-Linked Intellectual Disability Siderius Type, also known as siderius x-linked mental retardation syndrome, is related to x-linked intellectual disability, siderius type and celiac disease 1. An important gene associated with Syndromic X-Linked Intellectual Disability Siderius Type is PHF8 (PHD Finger Protein 8), and among its related pathways/superpathways is Chromatin organization.

Related Diseases for Syndromic X-Linked Intellectual Disability Siderius Type

Graphical network of the top 20 diseases related to Syndromic X-Linked Intellectual Disability Siderius Type:



Diseases related to Syndromic X-Linked Intellectual Disability Siderius Type

Symptoms & Phenotypes for Syndromic X-Linked Intellectual Disability Siderius Type

Drugs & Therapeutics for Syndromic X-Linked Intellectual Disability Siderius Type

Search Clinical Trials , NIH Clinical Center for Syndromic X-Linked Intellectual Disability Siderius Type

Genetic Tests for Syndromic X-Linked Intellectual Disability Siderius Type

Genetic tests related to Syndromic X-Linked Intellectual Disability Siderius Type:

# Genetic test Affiliating Genes
1 Syndromic X-Linked Intellectual Disability Siderius Type 29 PHF8

Anatomical Context for Syndromic X-Linked Intellectual Disability Siderius Type

Publications for Syndromic X-Linked Intellectual Disability Siderius Type

Articles related to Syndromic X-Linked Intellectual Disability Siderius Type:

# Title Authors PMID Year
1
Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate. 6
17661819 2007
2
A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate. 6
17594395 2007
3
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. 6
16199551 2005
4
X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3. 6
10398231 1999
5
Triple Diagnosis of Crohn's Disease, Celiac Disease, and Eosinophilic Esophagitis in a Child With Siderius-Hamel Syndrome. 61
31682751 2019
6
Autism-associated familial microdeletion of Xp11.22. 61
18498374 2008

Variations for Syndromic X-Linked Intellectual Disability Siderius Type

ClinVar genetic disease variations for Syndromic X-Linked Intellectual Disability Siderius Type:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHF8 PHF8, 12-BP DEL Deletion Pathogenic 10797 GRCh37:
GRCh38:
2 PHF8 NM_015107.3(PHF8):c.631C>T (p.Arg211Ter) SNV Pathogenic 10798 rs121918522 GRCh37: X:54040962-54040962
GRCh38: X:54014529-54014529
3 PHF8 NM_015107.3(PHF8):c.529A>T (p.Lys177Ter) SNV Pathogenic 10799 rs121918523 GRCh37: X:54043095-54043095
GRCh38: X:54016662-54016662
4 PHF8 NM_015107.3(PHF8):c.836T>C (p.Phe279Ser) SNV Pathogenic 10800 rs121918524 GRCh37: X:54037665-54037665
GRCh38: X:54011232-54011232
5 PHF8 NM_015107.3(PHF8):c.377del (p.Leu126fs) Deletion Pathogenic 374402 rs1057518729 GRCh37: X:54044171-54044171
GRCh38: X:54017738-54017738
6 PHF8 NM_015107.3(PHF8):c.1880del (p.Lys627fs) Deletion Pathogenic 984633 GRCh37: X:54014228-54014228
GRCh38: X:53987795-53987795
7 PHF8 NM_015107.3(PHF8):c.2444-2A>G SNV Likely pathogenic 666346 rs1603305030 GRCh37: X:53989374-53989374
GRCh38: X:53962941-53962941
8 PHF8 NM_015107.3(PHF8):c.2455del (p.Leu819fs) Deletion Likely pathogenic 930732 GRCh37: X:53989361-53989361
GRCh38: X:53962928-53962928
9 PHF8 NM_015107.3(PHF8):c.-63C>A SNV Uncertain significance 931407 GRCh37: X:54069224-54069224
GRCh38: X:54042791-54042791
10 PHF8 NM_015107.3(PHF8):c.-56C>T SNV Uncertain significance 1030277 GRCh37: X:54069217-54069217
GRCh38: X:54042784-54042784
11 PHF8 NM_015107.3(PHF8):c.2129+39G>C SNV Uncertain significance 1030278 GRCh37: X:54012210-54012210
GRCh38: X:53985777-53985777
12 PHF8 NM_015107.3(PHF8):c.1185T>C (p.His395=) SNV Uncertain significance 1030412 GRCh37: X:54026351-54026351
GRCh38: X:53999918-53999918
13 PHF8 NM_015107.3(PHF8):c.1349A>G (p.Lys450Arg) SNV Uncertain significance 1030413 GRCh37: X:54020311-54020311
GRCh38: X:53993878-53993878
14 PHF8 NM_015107.3(PHF8):c.197G>A (p.Arg66His) SNV Uncertain significance 1030461 GRCh37: X:54048788-54048788
GRCh38: X:54022355-54022355
15 PHF8 NM_015107.3(PHF8):c.2345G>C (p.Arg782Pro) SNV Uncertain significance 1030462 GRCh37: X:54011445-54011445
GRCh38: X:53985012-53985012
16 PHF8 NM_015107.3(PHF8):c.2258G>A (p.Arg753Gln) SNV Uncertain significance 548534 rs1263803925 GRCh37: X:54011532-54011532
GRCh38: X:53985099-53985099
17 PHF8 NM_015107.3(PHF8):c.2720G>A (p.Arg907His) SNV Likely benign 211903 rs142630105 GRCh37: X:53966879-53966879
GRCh38: X:53940446-53940446
18 PHF8 NM_015107.3(PHF8):c.-60C>T SNV not provided 441029 rs1557116325 GRCh37: X:54069221-54069221
GRCh38: X:54042788-54042788

Expression for Syndromic X-Linked Intellectual Disability Siderius Type

Search GEO for disease gene expression data for Syndromic X-Linked Intellectual Disability Siderius Type.

Pathways for Syndromic X-Linked Intellectual Disability Siderius Type

Pathways related to Syndromic X-Linked Intellectual Disability Siderius Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.77 PHF8 KDM7A KDM5C KDM4C

GO Terms for Syndromic X-Linked Intellectual Disability Siderius Type

Cellular components related to Syndromic X-Linked Intellectual Disability Siderius Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.61 ZNF711 ZNF674 ZNF526 ZNF41 PHF8 KDM7A
2 histone methyltransferase complex GO:0035097 8.62 KDM5C KDM4C

Biological processes related to Syndromic X-Linked Intellectual Disability Siderius Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.88 ZNF674 ZNF526 ZNF41 PHF8 KDM7A KDM4C
2 oxidation-reduction process GO:0055114 9.73 PHF8 KDM7A KDM5C KDM4C
3 chromatin organization GO:0006325 9.67 PHF8 KDM7A KDM5C KDM4C
4 protein demethylation GO:0006482 9.32 PHF8 KDM7A
5 histone H3-K27 demethylation GO:0071557 9.26 PHF8 KDM7A
6 histone H4-K20 demethylation GO:0035574 9.16 PHF8 KDM7A
7 histone H3-K9 demethylation GO:0033169 9.13 PHF8 KDM7A KDM4C
8 histone H3-K36 demethylation GO:0070544 8.8 PHF8 KDM7A KDM4C

Molecular functions related to Syndromic X-Linked Intellectual Disability Siderius Type according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.03 ZNF711 ZNF674 ZNF526 ZNF41 PHF8 KDM7A
2 zinc ion binding GO:0008270 9.78 PHF8 KDM7A KDM5C KDM4C
3 oxidoreductase activity GO:0016491 9.76 PHF8 KDM7A KDM5C KDM4C
4 dioxygenase activity GO:0051213 9.56 PHF8 KDM7A KDM5C KDM4C
5 methylated histone binding GO:0035064 9.49 PHF8 KDM7A
6 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors GO:0016706 9.4 PHF8 KDM7A
7 histone demethylase activity (H3-K27 specific) GO:0071558 9.37 PHF8 KDM7A
8 histone demethylase activity (H3-K9 specific) GO:0032454 9.33 PHF8 KDM7A KDM4C
9 histone demethylase activity (H4-K20 specific) GO:0035575 9.32 PHF8 KDM7A
10 histone demethylase activity (H3-K36 specific) GO:0051864 9.13 PHF8 KDM7A KDM4C
11 histone demethylase activity GO:0032452 8.92 PHF8 KDM7A KDM5C KDM4C

Sources for Syndromic X-Linked Intellectual Disability Siderius Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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