Mental Retardation, X-Linked 99, Syndromic, Female-Restricted disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MNT290 MIFTS: 24	Mental Retardation, X-Linked 99, Syndromic, Female-Restricted Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases
Genes Variations Tissues Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 300968

Orphanet ⁵⁹ ORPHA480880

MedGen ⁴² C4225416 CN235381

MeSH ⁴⁴ D038901

SNOMED-CT via HPO ⁶⁹ 204949001 43064006 422775003 more

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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)

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

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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

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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

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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

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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

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

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

Genes related to Mental Retardation, X-Linked 99, Syndromic, Female-Restricted (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	USP9X	Ubiquitin Specific Peptidase 9 X-Linked	Protein Coding	1369.35	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	26833328

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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

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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.

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

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

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