MCID: XLN134
MIFTS: 19

X-Linked Intellectual Disability, Siderius Type

Categories: Rare diseases, Mental diseases, Neuronal diseases, Fetal diseases

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

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

Name: X-Linked Intellectual Disability, Siderius Type 49 24 55
Mrxssd 49 24 71
X-Linked Mental Retardation Hamel Type 49 24
Siderius-Hamel Syndrome 24 71
Mental Retardation, X-Linked, Syndromic, Siderius Type 71
Syndromic X-Linked Mental Retardation, Siderius Type 24
Siderius X-Linked Mental Retardation Syndrome 69
Intellectual Deficit X-Linked Siderius Type 49
Siderius Hamel Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
x-linked intellectual disability, siderius type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

Classifications:



External Ids:

Orphanet 55 ORPHA85287
MESH via Orphanet 42 C537333
UMLS via Orphanet 70 C1846055
ICD10 via Orphanet 33 Q87.8
MedGen 39 C1846055
MeSH 41 D038901

Summaries for X-Linked Intellectual Disability, Siderius Type

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85287Disease definitionThis syndrome is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.Visit the Orphanet disease page for more resources. Last updated: 2/1/2007

MalaCards based summary : X-Linked Intellectual Disability, Siderius Type, also known as mrxssd, is related to syndromic x-linked intellectual disability siderius type, and has symptoms including cryptorchidism, cleft upper lip and long face. An important gene associated with X-Linked Intellectual Disability, Siderius Type is PHF8 (PHD Finger Protein 8).

Genetics Home Reference : 24 X-linked intellectual disability, Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed.

Related Diseases for X-Linked Intellectual Disability, Siderius Type

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

# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability siderius type 12.4

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

Human phenotypes related to X-Linked Intellectual Disability, Siderius Type:

55 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
2 cleft upper lip 55 31 hallmark (90%) Very frequent (99-80%) HP:0000204
3 long face 55 31 hallmark (90%) Very frequent (99-80%) HP:0000276
4 broad nasal tip 55 31 hallmark (90%) Very frequent (99-80%) HP:0000455
5 synophrys 55 31 occasional (7.5%) Occasional (29-5%) HP:0000664
6 large hands 55 31 hallmark (90%) Very frequent (99-80%) HP:0001176
7 preaxial hand polydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001177
8 intellectual disability, mild 55 31 hallmark (90%) Very frequent (99-80%) HP:0001256
9 low posterior hairline 55 31 occasional (7.5%) Occasional (29-5%) HP:0002162
10 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
11 decreased testicular size 55 31 frequent (33%) Frequent (79-30%) HP:0008734
12 oral cleft 55 Very frequent (99-80%)

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

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

Genetic Tests for X-Linked Intellectual Disability, Siderius Type

Anatomical Context for X-Linked Intellectual Disability, Siderius Type

Publications for X-Linked Intellectual Disability, Siderius Type

Variations for X-Linked Intellectual Disability, Siderius Type

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

6
# 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.529A> T (p.Lys177Ter) single nucleotide variant Pathogenic rs121918523 GRCh37 Chromosome X, 54043095: 54043095
4 PHF8 NM_015107.2(PHF8): c.836T> C (p.Phe279Ser) single nucleotide variant Pathogenic rs121918524 GRCh37 Chromosome X, 54037665: 54037665
5 PHF8 NM_015107.2(PHF8): c.2210C> G (p.Ser737Ter) single nucleotide variant Likely pathogenic rs797044665 GRCh37 Chromosome X, 54011580: 54011580
6 PHF8 NM_015107.2(PHF8): c.377delT (p.Leu126Argfs) deletion Pathogenic rs1057518729 GRCh37 Chromosome X, 54044171: 54044171

Expression for X-Linked Intellectual Disability, Siderius Type

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

Pathways for X-Linked Intellectual Disability, Siderius Type

GO Terms for X-Linked Intellectual Disability, Siderius Type

Sources for X-Linked Intellectual Disability, Siderius Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....