MRXSSD
MCID: XLN134
MIFTS: 26

X-Linked Intellectual Disability, Siderius Type (MRXSSD)

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Rare 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 20 43 58
Mrxssd 20 43 72
Intellectual Deficit X-Linked Siderius Type 20 6
Siderius-Hamel Syndrome 43 72
Mental Retardation, X-Linked, Syndromic, Siderius Type 72
Syndromic X-Linked Mental Retardation, Siderius Type 43
Siderius X-Linked Mental Retardation Syndrome 70
X-Linked Mental Retardation Hamel Type 43
Siderius Hamel Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability, siderius type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

MeSH 44 D038901
MESH via Orphanet 45 C537333
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C1846055
Orphanet 58 ORPHA85287
MedGen 41 C1846055
UMLS 70 C1846055

Summaries for X-Linked Intellectual Disability, Siderius Type

MedlinePlus Genetics : 43 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.Individuals with X-linked intellectual disability, Siderius type frequently also have an opening in the lip (cleft lip) with an opening in the roof of the mouth (cleft palate). A cleft can occur on one or both sides of the upper lip.Some boys and men with this condition have distinctive facial features, including a long face, a sloping forehead, a broad nasal bridge, a prominent bone in the lower forehead (supraorbital ridge), and outside corners of the eyes that point upward (upslanting palpebral fissures). Affected individuals may also have low-set ears and large hands.

MalaCards based summary : X-Linked Intellectual Disability, Siderius Type, also known as mrxssd, is related to syndromic x-linked intellectual disability siderius type and celiac disease 1. An important gene associated with X-Linked Intellectual Disability, Siderius Type is PHF8 (PHD Finger Protein 8). Related phenotypes are intellectual disability, mild and cleft upper lip

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85287 Definition X-linked intellectual disability, Siderius type 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.

UniProtKB/Swiss-Prot : 72 Mental retardation, X-linked, syndromic, Siderius type: A syndrome characterized by mild to borderline mental retardation with or without cleft lip/cleft palate.

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 11.8
2 celiac disease 1 10.2
3 esophagitis, eosinophilic, 1 10.2
4 alacrima, achalasia, and mental retardation syndrome 10.2
5 esophagitis 10.2
6 crohn's disease 10.2

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



Diseases related to X-Linked Intellectual Disability, Siderius Type

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

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

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
2 cleft upper lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000204
3 long face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000276
4 large hands 58 31 hallmark (90%) Very frequent (99-80%) HP:0001176
5 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455
6 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
7 decreased testicular size 58 31 frequent (33%) Frequent (79-30%) HP:0008734
8 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
9 low posterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0002162
10 preaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001177
11 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
12 oral cleft 58 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

Articles related to 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 X-Linked Intellectual Disability, Siderius Type

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

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHF8 NM_015107.3(PHF8):c.377del (p.Leu126fs) Deletion Pathogenic 374402 rs1057518729 GRCh37: X:54044171-54044171
GRCh38: X:54017738-54017738
2 PHF8 NM_015107.3(PHF8):c.1880del (p.Lys627fs) Deletion Pathogenic 984633 GRCh37: X:54014228-54014228
GRCh38: X:53987795-53987795
3 PHF8 NM_015107.3(PHF8):c.836T>C (p.Phe279Ser) SNV Pathogenic 10800 rs121918524 GRCh37: X:54037665-54037665
GRCh38: X:54011232-54011232
4 PHF8 NM_015107.3(PHF8):c.529A>T (p.Lys177Ter) SNV Pathogenic 10799 rs121918523 GRCh37: X:54043095-54043095
GRCh38: X:54016662-54016662
5 PHF8 NM_015107.3(PHF8):c.631C>T (p.Arg211Ter) SNV Pathogenic 10798 rs121918522 GRCh37: X:54040962-54040962
GRCh38: X:54014529-54014529
6 PHF8 PHF8, 12-BP DEL Deletion Pathogenic 10797 GRCh37:
GRCh38:
7 PHF8 NM_015107.3(PHF8):c.2455del (p.Leu819fs) Deletion Likely pathogenic 930732 GRCh37: X:53989361-53989361
GRCh38: X:53962928-53962928
8 PHF8 NM_015107.3(PHF8):c.2444-2A>G SNV Likely pathogenic 666346 rs1603305030 GRCh37: X:53989374-53989374
GRCh38: X:53962941-53962941
9 PHF8 NM_015107.3(PHF8):c.-56C>T SNV Uncertain significance 1030277 GRCh37: X:54069217-54069217
GRCh38: X:54042784-54042784
10 PHF8 NM_015107.3(PHF8):c.2129+39G>C SNV Uncertain significance 1030278 GRCh37: X:54012210-54012210
GRCh38: X:53985777-53985777
11 PHF8 NM_015107.3(PHF8):c.1185T>C (p.His395=) SNV Uncertain significance 1030412 GRCh37: X:54026351-54026351
GRCh38: X:53999918-53999918
12 PHF8 NM_015107.3(PHF8):c.1349A>G (p.Lys450Arg) SNV Uncertain significance 1030413 GRCh37: X:54020311-54020311
GRCh38: X:53993878-53993878
13 PHF8 NM_015107.3(PHF8):c.197G>A (p.Arg66His) SNV Uncertain significance 1030461 GRCh37: X:54048788-54048788
GRCh38: X:54022355-54022355
14 PHF8 NM_015107.3(PHF8):c.2345G>C (p.Arg782Pro) SNV Uncertain significance 1030462 GRCh37: X:54011445-54011445
GRCh38: X:53985012-53985012
15 PHF8 NM_015107.3(PHF8):c.-63C>A SNV Uncertain significance 931407 GRCh37: X:54069224-54069224
GRCh38: X:54042791-54042791
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 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 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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