MRXS35
MCID: MNT298
MIFTS: 29

Mental Retardation, X-Linked, Syndromic, 35 (MRXS35)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, 35

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, 35:

Name: Mental Retardation, X-Linked, Syndromic, 35 57 72 29 6
Mrxs35 57 72
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome 58
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome 58
Mental Retardation, X-Linked, Syndromic, Type 35 39
Syndromic X-Linked Mental Retardation 35 12

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
x-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

Miscellaneous:
variable extraneurologic features


HPO:

31
mental retardation, x-linked, syndromic, 35:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, X-Linked, Syndromic, 35

UniProtKB/Swiss-Prot : 72 Mental retardation, X-linked, syndromic, 35: A mental retardation syndrome characterized by intellectual deficit, delayed psychomotor development, poor speech, and dysmorphic features. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, 35, is also known as mrxs35. An important gene associated with Mental Retardation, X-Linked, Syndromic, 35 is RPL10 (Ribosomal Protein L10). Affiliated tissues include testes, and related phenotypes are mandibular prognathia and abnormal facial shape

Disease Ontology : 12 A syndromic X-linked intellectual disability that has material basis in mutation in the RPL10 gene on chromosome Xq28.

More information from OMIM: 300998 PS309510

Related Diseases for Mental Retardation, X-Linked, Syndromic, 35

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, 35

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, 35:

58 31 (show top 50) (show all 91)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mandibular prognathia 58 31 obligate (100%) Obligate (100%),Frequent (79-30%) HP:0000303
2 abnormal facial shape 58 31 obligate (100%) Obligate (100%),Very frequent (99-80%) HP:0001999
3 microcephaly 58 31 obligate (100%) Obligate (100%),Frequent (79-30%) HP:0000252
4 gastroesophageal reflux 58 31 obligate (100%) Obligate (100%),Frequent (79-30%) HP:0002020
5 cryptorchidism 58 31 obligate (100%) Obligate (100%),Frequent (79-30%) HP:0000028
6 severe postnatal growth retardation 58 31 obligate (100%) Obligate (100%) HP:0008850
7 recurrent infections 58 31 obligate (100%) Obligate (100%),Occasional (29-5%) HP:0002719
8 seizure 31 very rare (1%) HP:0001250
9 hypotonia 31 obligate (100%) HP:0001252
10 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
11 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
12 ataxia 58 31 very rare (1%) Frequent (79-30%) HP:0001251
13 self-injurious behavior 58 31 frequent (33%) Frequent (79-30%) HP:0100716
14 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
15 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000407
16 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
17 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
18 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
19 laryngomalacia 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001601
20 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000219
21 protruding ear 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000411
22 hypospadias 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000047
23 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
24 pulmonary artery stenosis 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0004415
25 cerebellar hypoplasia 58 31 very rare (1%) Frequent (79-30%) HP:0001321
26 tapered finger 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001182
27 branchial cyst 58 31 frequent (33%) Frequent (79-30%) HP:0009796
28 ankle flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0006466
29 single transverse palmar crease 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000954
30 knee flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0006380
31 camptodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0012385
32 sacral lipoma 58 31 frequent (33%) Frequent (79-30%) HP:0012033
33 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
34 spondyloepiphyseal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002655
35 anteverted ears 58 31 frequent (33%) Frequent (79-30%) HP:0040080
36 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
37 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
38 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
39 everted lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000232
40 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
41 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
42 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
43 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
44 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
45 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
46 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
47 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
48 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
49 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
50 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
seizures (in some patients)
delayed psychomotor development
cerebellar hypoplasia (in some patients)
delayed speech
more
Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
small testes

Head And Neck Eyes:
myopia
epicanthal folds

Skeletal Skull:
dolichocephaly

Head And Neck Face:
long philtrum
microretrognathia
prognathism
flat philtrum

Head And Neck Mouth:
thin upper lip
small mouth

Head And Neck Ears:
prominent ears
hearing loss (in some patients)

Head And Neck Head:
microcephaly, progressive (variable, -2 to -9 sd)

Prenatal Manifestations Delivery:
premature delivery (35 to 38 weeks)

Skeletal Spine:
scoliosis
spondyloepiphyseal dysplasia

Abdomen Gastrointestinal:
gastroesophageal reflux

Growth Other:
intrauterine growth retardation
poor growth

Head And Neck Teeth:
dental crowding

Skeletal Hands:
brachydactyly
camptodactyly
clinodactyly
tapered fingers
single palmar creases

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
broad nasal bridge

Prenatal Manifestations Amniotic Fluid:
increased amniotic fluid

Cardiovascular Heart:
septal defects (in some patients)

Clinical features from OMIM®:

300998 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, 35

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, 35

Genetic Tests for Mental Retardation, X-Linked, Syndromic, 35

Genetic tests related to Mental Retardation, X-Linked, Syndromic, 35:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic, 35 29 RPL10

Anatomical Context for Mental Retardation, X-Linked, Syndromic, 35

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, 35:

40
Testes

Publications for Mental Retardation, X-Linked, Syndromic, 35

Articles related to Mental Retardation, X-Linked, Syndromic, 35:

# Title Authors PMID Year
1
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. 57 6
26290468 2015
2
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability. 6 57
25846674 2015
3
A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. 57 6
25316788 2014

Variations for Mental Retardation, X-Linked, Syndromic, 35

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, 35:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPL10 NM_001256577.2(RPL10):c.330-87G>A SNV Pathogenic 430613 rs1131692041 GRCh37: X:153628956-153628956
GRCh38: X:154400615-154400615
2 RPL10 NM_006013.4(RPL10):c.191C>T (p.Ala64Val) SNV Pathogenic 430614 rs1131692042 GRCh37: X:153628144-153628144
GRCh38: X:154399803-154399803
3 RPL10 NM_006013.5(RPL10):c.565C>T (p.Arg189Trp) SNV Likely pathogenic 818225 rs1019534975 GRCh37: X:153629115-153629115
GRCh38: X:154400774-154400774
4 RPL10 NM_006013.4(RPL10):c.232A>G (p.Lys78Glu) SNV Conflicting interpretations of pathogenicity 430612 rs1131692040 GRCh37: X:153628185-153628185
GRCh38: X:154399844-154399844
5 RPL10 NM_006013.5(RPL10):c.236G>C (p.Ser79Thr) SNV Uncertain significance 931462 GRCh37: X:153628189-153628189
GRCh38: X:154399848-154399848
6 RPL10 NM_006013.5(RPL10):c.578A>G (p.Asp193Gly) SNV Uncertain significance 977077 GRCh37: X:153629128-153629128
GRCh38: X:154400787-154400787
7 RPL10 NM_006013.5(RPL10):c.191-5C>T SNV Uncertain significance 1028473 GRCh37: X:153628139-153628139
GRCh38: X:154399798-154399798
8 RPL10 NM_006013.5(RPL10):c.347G>A (p.Arg116Gln) SNV Uncertain significance 1031592 GRCh37: X:153628822-153628822
GRCh38: X:154400481-154400481

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, 35:

72
# Symbol AA change Variation ID SNP ID
1 RPL10 p.Ala64Val VAR_079288
2 RPL10 p.Lys78Glu VAR_079289 rs113169204

Expression for Mental Retardation, X-Linked, Syndromic, 35

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, 35.

Pathways for Mental Retardation, X-Linked, Syndromic, 35

GO Terms for Mental Retardation, X-Linked, Syndromic, 35

Sources for Mental Retardation, X-Linked, Syndromic, 35

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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