MCID: XLN134
MIFTS: 19

X-Linked Intellectual Disability, Siderius Type

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare 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 25 56
Mental Retardation, X-Linked, Syndromic, Siderius Type 54 71
Siderius-Hamel Syndrome 25 71
Mrxssd 25 71
Syndromic X-Linked Mental Retardation, Siderius Type 25
Siderius X-Linked Mental Retardation Syndrome 69
X-Linked Mental Retardation Hamel Type 25

Characteristics:

Orphanet epidemiological data:

56
x-linked intellectual disability, siderius type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

54
Inheritance:
x-linked recessive

Miscellaneous:
common features are mental retardation and unilateral/bilateral cleft lip/palate


Classifications:



External Ids:

Orphanet 56 ORPHA85287
MESH via Orphanet 43 C537333
UMLS via Orphanet 70 C1846055
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1846055
MeSH 42 D038901

Summaries for X-Linked Intellectual Disability, Siderius Type

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.

MalaCards based summary : X-Linked Intellectual Disability, Siderius Type, also known as mental retardation, x-linked, syndromic, siderius type, 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). Affiliated tissues include testes.

UniProtKB/Swiss-Prot : 71 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:

id Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability siderius type 12.3

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

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Face:
long face
sloping forehead
prominent supraorbital ridges

Neurologic- Central Nervous System:
delayed speech development
mental retardation, mild to borderline
dysarthric, unclear speech

Skeletal- Feet:
long toes
pes planus
thin toes
short first toes

Skeletal- Spine:
thoracic kyphosis

Head And Neck- Mouth:
cleft lip, unilateral or bilateral
cleft palate, unilateral or bilateral

Voice:
nasal voice

Head And Neck- Nose:
broad nasal tip

Skin Nails & Hair- Hair:
synophrys
low posterior hairline

Head And Neck- Eyes:
upslanting palpebral fissures

Skeletal- Hands:
long hands
large hands
thin hands

Genitourinary- External Genitalia Male:
retractile testes

Neurologic- Behavioral Psychiatric Manifestations:
uncontrollable outbursts


Clinical features from OMIM:

300263

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

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
2 cleft upper lip 56 32 hallmark (90%) Very frequent (99-80%) HP:0000204
3 long face 56 32 hallmark (90%) Very frequent (99-80%) HP:0000276
4 broad nasal tip 56 32 hallmark (90%) Very frequent (99-80%) HP:0000455
5 synophrys 56 32 occasional (7.5%) Occasional (29-5%) HP:0000664
6 large hands 56 32 hallmark (90%) Very frequent (99-80%) HP:0001176
7 preaxial hand polydactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001177
8 intellectual disability, mild 56 32 hallmark (90%) Very frequent (99-80%) HP:0001256
9 low posterior hairline 56 32 occasional (7.5%) Occasional (29-5%) HP:0002162
10 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
11 decreased testicular size 56 32 frequent (33%) Frequent (79-30%) HP:0008734
12 oral cleft 56 Very frequent (99-80%)
13 intellectual disability 32 HP:0001249

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

MalaCards organs/tissues related to X-Linked Intellectual Disability, Siderius Type:

39
Testes

Publications for X-Linked Intellectual Disability, Siderius Type

Variations for X-Linked Intellectual Disability, Siderius Type

UniProtKB/Swiss-Prot genetic disease variations for X-Linked Intellectual Disability, Siderius Type:

71
id Symbol AA change Variation ID SNP ID
1 PHF8 p.Phe315Ser VAR_062250 rs121918524

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

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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