MCID: XLN134
MIFTS: 19

X-Linked Intellectual Disability, Siderius Type

Categories: Rare diseases, Neuronal diseases, Fetal diseases, Mental 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 53 25 59
Mrxssd 53 25 75
X-Linked Mental Retardation Hamel Type 53 25
Siderius-Hamel Syndrome 25 75
Mental Retardation, X-Linked, Syndromic, Siderius Type 75
Syndromic X-Linked Mental Retardation, Siderius Type 25
Siderius X-Linked Mental Retardation Syndrome 73
Intellectual Deficit X-Linked Siderius Type 53
Siderius Hamel Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
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 59 ORPHA85287
MESH via Orphanet 45 C537333
UMLS via Orphanet 74 C1846055
ICD10 via Orphanet 34 Q87.8
MedGen 42 C1846055
MeSH 44 D038901

Summaries for X-Linked Intellectual Disability, Siderius Type

NIH Rare Diseases : 53 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.

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

Genetics Home Reference : 25 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:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
2 cleft upper lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000204
3 long face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000276
4 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
5 synophrys 59 32 occasional (7.5%) Occasional (29-5%) HP:0000664
6 large hands 59 32 hallmark (90%) Very frequent (99-80%) HP:0001176
7 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
8 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
9 low posterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0002162
10 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
11 decreased testicular size 59 32 frequent (33%) Frequent (79-30%) HP:0008734
12 oral cleft 59 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
(show all 15)
# 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 GRCh38 Chromosome X, 54042788: 54042788
15 PHF8 NM_001184896.1(PHF8): c.49C> T (p.Pro17Ser) single nucleotide variant not provided GRCh37 Chromosome X, 54069221: 54069221

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
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
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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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