MCID: SYN079
MIFTS: 14

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 15
Siderius X-Linked Mental Retardation Syndrome 73
Siderius-Hamel Syndrome 12
Mrxssd 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060812
MeSH 44 C537333
UMLS 73 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 orofacial cleft. An important gene associated with Syndromic X-Linked Intellectual Disability Siderius Type is PHF8 (PHD Finger Protein 8).

Related Diseases for Syndromic X-Linked Intellectual Disability Siderius Type

Diseases related to Syndromic X-Linked Intellectual Disability Siderius Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 x-linked intellectual disability, siderius type 11.5
2 orofacial cleft 9.8 PHF8 SATB2

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

Anatomical Context for Syndromic X-Linked Intellectual Disability Siderius Type

Publications for Syndromic X-Linked Intellectual Disability Siderius Type

Variations for Syndromic X-Linked Intellectual Disability Siderius Type

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

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 PHF8 PHF8, 12-BP DEL deletion Pathogenic
2 PHF8 NM_015107.2(PHF8): c.631C> T (p.Arg211Ter) single nucleotide variant Pathogenic rs121918522 GRCh37 Chromosome X, 54040962: 54040962
3 PHF8 NM_015107.2(PHF8): c.631C> T (p.Arg211Ter) single nucleotide variant Pathogenic rs121918522 GRCh38 Chromosome X, 54014529: 54014529
4 PHF8 NM_015107.2(PHF8): c.529A> T (p.Lys177Ter) single nucleotide variant Pathogenic rs121918523 GRCh37 Chromosome X, 54043095: 54043095
5 PHF8 NM_015107.2(PHF8): c.529A> T (p.Lys177Ter) single nucleotide variant Pathogenic rs121918523 GRCh38 Chromosome X, 54016662: 54016662
6 PHF8 NM_015107.2(PHF8): c.836T> C (p.Phe279Ser) single nucleotide variant Pathogenic rs121918524 GRCh37 Chromosome X, 54037665: 54037665
7 PHF8 NM_015107.2(PHF8): c.836T> C (p.Phe279Ser) single nucleotide variant Pathogenic rs121918524 GRCh38 Chromosome X, 54011232: 54011232
8 PHF8 NM_015107.2(PHF8): c.1731-1G> A single nucleotide variant Uncertain significance rs797044651 GRCh37 Chromosome X, 54014378: 54014378
9 PHF8 NM_015107.2(PHF8): c.1731-1G> A single nucleotide variant Uncertain significance rs797044651 GRCh38 Chromosome X, 53987945: 53987945
10 PHF8 NM_015107.2(PHF8): c.2210C> G (p.Ser737Ter) single nucleotide variant Likely pathogenic rs797044665 GRCh37 Chromosome X, 54011580: 54011580
11 PHF8 NM_015107.2(PHF8): c.2210C> G (p.Ser737Ter) single nucleotide variant Likely pathogenic rs797044665 GRCh38 Chromosome X, 53985147: 53985147
12 PHF8 NM_015107.2(PHF8): c.377delT (p.Leu126Argfs) deletion Pathogenic rs1057518729 GRCh37 Chromosome X, 54044171: 54044171
13 PHF8 NM_015107.2(PHF8): c.377delT (p.Leu126Argfs) deletion Pathogenic rs1057518729 GRCh38 Chromosome X, 54017738: 54017738
14 PHF8 NM_001184896.1(PHF8): c.49C> T (p.Pro17Ser) single nucleotide variant not provided GRCh37 Chromosome X, 54069221: 54069221
15 PHF8 NM_001184896.1(PHF8): c.49C> T (p.Pro17Ser) single nucleotide variant not provided GRCh38 Chromosome X, 54042788: 54042788
16 PHF8 NM_001184898.1(PHF8): c.2207G> A (p.Arg736Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 54011532: 54011532
17 PHF8 NM_001184898.1(PHF8): c.2207G> A (p.Arg736Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 53985099: 53985099

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

GO Terms for Syndromic X-Linked Intellectual Disability Siderius Type

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 chromatin organization GO:0006325 8.62 PHF8 SATB2

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 8.62 PHF8 SATB2

Sources for Syndromic X-Linked Intellectual Disability Siderius Type

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
Content
Loading form....