MCID: MNT290
MIFTS: 24

Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

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

Aliases & Classifications for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

MalaCards integrated aliases for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted:

Name: Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 57 75 29 6
Mrxs99f 57 75
X-Linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited to Females 59
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability 59

Characteristics:

OMIM:

57
Miscellaneous:
highly variable phenotype
mutations occur de novo

Inheritance:
x-linked dominant


HPO:

32
mental retardation, x-linked 99, syndromic, female-restricted:
Onset and clinical course phenotypic variability
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked 99, syndromic, female-restricted: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning, associated with impairments in adaptive behavior and manifested during the developmental period. MRXS99F affected females manifest intellectual disability, developmental delay, facial dysmorphism, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities. Inheritance is X-linked dominant.

MalaCards based summary : Mental Retardation, X-Linked 99, Syndromic, Female-Restricted, is also known as mrxs99f. An important gene associated with Mental Retardation, X-Linked 99, Syndromic, Female-Restricted is USP9X (Ubiquitin Specific Peptidase 9 X-Linked). Affiliated tissues include brain, heart and thyroid, and related phenotypes are low-set ears and intellectual disability

OMIM : 57 Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016). (300968)

Related Diseases for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

Symptoms & Phenotypes for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss

Skeletal Pelvis:
hip dysplasia
hip dislocation

Head And Neck Face:
smooth philtrum
prominent forehead
long philtrum
facial asymmetry
bitemporal narrowing
more
Head And Neck Head:
brachycephaly

Head And Neck Eyes:
strabismus
myopia
astigmatism
hypermetropia
cataracts
more
Cardiovascular Heart:
atrial septal defect
congenital heart malformations, mild

Neurologic Central Nervous System:
cerebellar hypoplasia
dandy-walker malformation
hypoplasia of the corpus callosum
enlarged ventricles
delayed psychomotor development
more
Head And Neck Nose:
bulbous nose
choanal atresia
prominent nose
broad nasal bridge
low nasal bridge
more
Genitourinary Kidneys:
hydronephrosis
renal dysplasia

Skeletal Hands:
postaxial polydactyly
small hands
tapering fingers

Head And Neck Teeth:
tooth abnormalities

Endocrine Features:
thyroid abnormalities

Skeletal Spine:
scoliosis

Respiratory:
recurrent respiratory infections
breathing difficulties, neonatal

Growth Height:
short stature

Abdomen Gastrointestinal:
feeding difficulties
anal atresia

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Feet:
pes cavus
small feet

Skeletal:
joint laxity

Skin Nails Hair Skin:
sacral dimple
pigmentary abnormalities along the lines of blaschko

Skin Nails Hair Hair:
hypertrichosis

Muscle Soft Tissue:
hypotonia

Chest Breasts:
hypomastia, asymmetric


Clinical features from OMIM:

300968

Human phenotypes related to Mental Retardation, X-Linked 99, Syndromic, Female-Restricted:

32 (show top 50) (show all 56)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 intellectual disability 32 HP:0001249
3 seizures 32 very rare (1%) HP:0001250
4 scoliosis 32 very rare (1%) HP:0002650
5 hearing impairment 32 very rare (1%) HP:0000365
6 cataract 32 HP:0000518
7 global developmental delay 32 very rare (1%) HP:0001263
8 hip dysplasia 32 very rare (1%) HP:0001385
9 recurrent respiratory infections 32 very rare (1%) HP:0002205
10 depressed nasal bridge 32 HP:0005280
11 abnormality of the dentition 32 HP:0000164
12 wide nasal bridge 32 HP:0000431
13 delayed speech and language development 32 HP:0000750
14 smooth philtrum 32 HP:0000319
15 short stature 32 HP:0004322
16 brachycephaly 32 HP:0000248
17 prominent forehead 32 HP:0011220
18 cleft palate 32 HP:0000175
19 long philtrum 32 HP:0000343
20 feeding difficulties 32 HP:0011968
21 strabismus 32 HP:0000486
22 patent ductus arteriosus 32 HP:0001643
23 respiratory distress 32 HP:0002098
24 short foot 32 HP:0001773
25 myopia 32 HP:0000545
26 atrial septal defect 32 HP:0001631
27 pes cavus 32 HP:0001761
28 hip dislocation 32 HP:0002827
29 cerebellar hypoplasia 32 very rare (1%) HP:0001321
30 small hand 32 HP:0200055
31 joint laxity 32 HP:0001388
32 anal atresia 32 very rare (1%) HP:0002023
33 bulbous nose 32 HP:0000414
34 choanal atresia 32 very rare (1%) HP:0000453
35 sacral dimple 32 very rare (1%) HP:0000960
36 hypotelorism 32 HP:0000601
37 facial asymmetry 32 HP:0000324
38 lower limb asymmetry 32 very rare (1%) HP:0100559
39 hydronephrosis 32 HP:0000126
40 tapered finger 32 HP:0001182
41 dandy-walker malformation 32 very rare (1%) HP:0001305
42 bifid uvula 32 very rare (1%) HP:0000193
43 astigmatism 32 HP:0000483
44 hypoplasia of the corpus callosum 32 very rare (1%) HP:0002079
45 prominent nose 32 HP:0000448
46 short palpebral fissure 32 HP:0012745
47 generalized hypotonia 32 very rare (1%) HP:0001290
48 posteriorly rotated ears 32 HP:0000358
49 renal dysplasia 32 HP:0000110
50 hypermetropia 32 HP:0000540

Drugs & Therapeutics for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

Genetic Tests for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

Genetic tests related to Mental Retardation, X-Linked 99, Syndromic, Female-Restricted:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 29 USP9X

Anatomical Context for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

MalaCards organs/tissues related to Mental Retardation, X-Linked 99, Syndromic, Female-Restricted:

41
Brain, Heart, Thyroid

Publications for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

Variations for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

ClinVar genetic disease variations for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 USP9X NM_001039590.2(USP9X): c.2554C> T (p.Arg852Ter) single nucleotide variant Pathogenic rs869025588 GRCh37 Chromosome X, 41027389: 41027389
2 USP9X NM_001039590.2(USP9X): c.2554C> T (p.Arg852Ter) single nucleotide variant Pathogenic rs869025588 GRCh38 Chromosome X, 41168136: 41168136
3 USP9X NM_001039590.2(USP9X): c.3028_3148del121 single nucleotide variant Pathogenic rs869025589 GRCh38 Chromosome X, 41171836: 41171836
4 USP9X NM_001039590.2(USP9X): c.3028_3148del121 single nucleotide variant Pathogenic rs869025589 GRCh37 Chromosome X, 41031089: 41031089
5 USP9X NM_001039590.2(USP9X): c.2644_2645insA (p.Arg882Glnfs) insertion Pathogenic rs869025590 GRCh37 Chromosome X, 41029255: 41029256
6 USP9X NM_001039590.2(USP9X): c.2644_2645insA (p.Arg882Glnfs) insertion Pathogenic rs869025590 GRCh38 Chromosome X, 41170002: 41170003
7 USP9X NM_001039590.2(USP9X): c.3763C> T (p.Gln1255Ter) single nucleotide variant Pathogenic rs869025591 GRCh37 Chromosome X, 41047323: 41047323
8 USP9X NM_001039590.2(USP9X): c.3763C> T (p.Gln1255Ter) single nucleotide variant Pathogenic rs869025591 GRCh38 Chromosome X, 41188070: 41188070
9 USP9X NM_001039590.2(USP9X): c.1111C> T (p.Arg371Ter) single nucleotide variant Pathogenic rs869025592 GRCh37 Chromosome X, 41000634: 41000634
10 USP9X NM_001039590.2(USP9X): c.1111C> T (p.Arg371Ter) single nucleotide variant Pathogenic rs869025592 GRCh38 Chromosome X, 41141381: 41141381
11 USP9X NM_001039590.2(USP9X): c.5047C> T (p.Gln1683Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 41210540: 41210540
12 USP9X NM_001039590.2(USP9X): c.5047C> T (p.Gln1683Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 41069793: 41069793
13 USP9X NM_001039590.2(USP9X): c.4756delC (p.Ala1587Profs) deletion Pathogenic GRCh37 Chromosome X, 41060465: 41060465
14 USP9X NM_001039590.2(USP9X): c.4756delC (p.Ala1587Profs) deletion Pathogenic GRCh38 Chromosome X, 41201212: 41201212

Expression for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

Search GEO for disease gene expression data for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted.

Pathways for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

GO Terms for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

Sources for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

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17 ExPASy
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