MCID: MNT198
MIFTS: 23

Mental Retardation, X-Linked 98

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

Aliases & Classifications for Mental Retardation, X-Linked 98

MalaCards integrated aliases for Mental Retardation, X-Linked 98:

Name: Mental Retardation, X-Linked 98 57 75 29 6 73
Mrx98 57 75
X-Linked Intellectual Disability, Cantagrel Type 59
Mental Retardation, X-Linked, Type 98 40

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability, cantagrel type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
variable phenotype
incomplete penetrance
onset at birth
males are more severely affected than females
onset of seizures in first months or years of life
some carrier females are unaffected
de novo mutation (in affected females)

Inheritance:
x-linked dominant


HPO:

32
mental retardation, x-linked 98:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Mental Retardation, X-Linked 98

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked 98: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRX98 patients show delayed psychomotor development, absent or poor speech development, and postnatal growth retardation, often with microcephaly. Some patients show autistic behavioral features, such as stereotypic hand movements and repetitive behaviors. Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control.

MalaCards based summary : Mental Retardation, X-Linked 98, is also known as mrx98, and has symptoms including muscle spasticity and seizures. An important gene associated with Mental Retardation, X-Linked 98 is NEXMIF (Neurite Extension And Migration Factor). Affiliated tissues include eye, and related phenotypes are intellectual disability and seizures

OMIM : 57 X-linked mental retardation-98 is a neurodevelopmental disorder characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures. Some carrier females are unaffected, whereas other females with mutations are affected; males tend to be more severely affected than females. It is believed that the phenotypic variability and disease manifestations in female carriers results from skewed X-inactivation or cellular mosaicism (summary by de Lange et al., 2016). (300912)

Symptoms & Phenotypes for Mental Retardation, X-Linked 98

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
spasticity
generalized seizures
absence seizures
status epilepticus
more
Head And Neck Nose:
short nose
prominent nasal bridge
anteverted nostrils
hypoplastic nasal alae

Head And Neck Eyes:
strabismus
esotropia
poor eye contact
downslanting eyebrows

Head And Neck Mouth:
open mouth

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features
repetitive movements
stereotypical hand movements

Head And Neck Ears:
large ears

Growth Other:
failure to thrive
poor growth

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties
no sphincter control

Head And Neck Face:
short philtrum
round face
bitemporal narrowing
hypotonic face

Genitourinary Bladder:
urinary incontinence
no sphincter control

Head And Neck Head:
microcephaly, postnatal

Muscle Soft Tissue:
axial hypotonia


Clinical features from OMIM:

300912

Human phenotypes related to Mental Retardation, X-Linked 98:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
4 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
5 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
6 stereotypy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000733
7 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
8 absent speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001344
9 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
10 cerebral cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002120
11 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
12 tented upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0010804
13 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
14 autistic behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0000729
15 shawl scrotum 59 32 frequent (33%) Frequent (79-30%) HP:0000049
16 tetraparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002273
17 esotropia 59 32 frequent (33%) Frequent (79-30%) HP:0000565
18 spasticity 32 HP:0001257
19 failure to thrive 32 HP:0001508
20 global developmental delay 32 HP:0001263
21 growth delay 32 HP:0001510
22 abnormality of the musculature 59 Frequent (79-30%)
23 round face 32 HP:0000311
24 hyperactivity 32 HP:0000752
25 postnatal microcephaly 32 HP:0005484
26 hypsarrhythmia 32 occasional (7.5%) HP:0002521
27 muscular hypotonia of the trunk 32 HP:0008936
28 poor eye contact 32 HP:0000817

UMLS symptoms related to Mental Retardation, X-Linked 98:


muscle spasticity, seizures

Drugs & Therapeutics for Mental Retardation, X-Linked 98

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 98

Genetic Tests for Mental Retardation, X-Linked 98

Genetic tests related to Mental Retardation, X-Linked 98:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked 98 29 NEXMIF

Anatomical Context for Mental Retardation, X-Linked 98

MalaCards organs/tissues related to Mental Retardation, X-Linked 98:

41
Eye

Publications for Mental Retardation, X-Linked 98

Variations for Mental Retardation, X-Linked 98

ClinVar genetic disease variations for Mental Retardation, X-Linked 98:

6
(show top 50) (show all 127)
# Gene Variation Type Significance SNP ID Assembly Location
1 NEXMIF NM_001008537.2(NEXMIF): c.3597dupA (p.Ser1200Ilefs) duplication Pathogenic rs397518478 GRCh37 Chromosome X, 73960795: 73960795
2 NEXMIF NM_001008537.2(NEXMIF): c.3597dupA (p.Ser1200Ilefs) duplication Pathogenic rs397518478 GRCh38 Chromosome X, 74740960: 74740960
3 NEXMIF NEXMIF, 70-KB DUP duplication Pathogenic
4 NEXMIF NM_001008537.2(NEXMIF): c.183delC (p.Arg62Glufs) deletion Pathogenic rs397518479 GRCh37 Chromosome X, 73964209: 73964209
5 NEXMIF NM_001008537.2(NEXMIF): c.183delC (p.Arg62Glufs) deletion Pathogenic rs397518479 GRCh38 Chromosome X, 74744374: 74744374
6 NEXMIF NM_001008537.2(NEXMIF): c.1582delA (p.Arg528Glufs) deletion Pathogenic rs727503977 GRCh37 Chromosome X, 73962810: 73962810
7 NEXMIF NM_001008537.2(NEXMIF): c.1582delA (p.Arg528Glufs) deletion Pathogenic rs727503977 GRCh38 Chromosome X, 74742975: 74742975
8 NEXMIF NM_001008537.2(NEXMIF): c.1882C> T (p.Arg628Ter) single nucleotide variant Pathogenic rs786205208 GRCh38 Chromosome X, 74742675: 74742675
9 NEXMIF NM_001008537.2(NEXMIF): c.1882C> T (p.Arg628Ter) single nucleotide variant Pathogenic rs786205208 GRCh37 Chromosome X, 73962510: 73962510
10 NEXMIF NM_001008537.2(NEXMIF): c.4509T> C (p.Pro1503=) single nucleotide variant Benign/Likely benign rs41303725 GRCh38 Chromosome X, 74739447: 74739447
11 NEXMIF NM_001008537.2(NEXMIF): c.4509T> C (p.Pro1503=) single nucleotide variant Benign/Likely benign rs41303725 GRCh37 Chromosome X, 73959282: 73959282
12 NEXMIF NM_001008537.2(NEXMIF): c.4246C> T (p.Pro1416Ser) single nucleotide variant Benign/Likely benign rs143577015 GRCh38 Chromosome X, 74740311: 74740311
13 NEXMIF NM_001008537.2(NEXMIF): c.4246C> T (p.Pro1416Ser) single nucleotide variant Benign/Likely benign rs143577015 GRCh37 Chromosome X, 73960146: 73960146
14 NEXMIF NM_001008537.2(NEXMIF): c.3798C> T (p.Gly1266=) single nucleotide variant Benign rs149185175 GRCh38 Chromosome X, 74740759: 74740759
15 NEXMIF NM_001008537.2(NEXMIF): c.3798C> T (p.Gly1266=) single nucleotide variant Benign rs149185175 GRCh37 Chromosome X, 73960594: 73960594
16 NEXMIF NM_001008537.2(NEXMIF): c.2772_2773insTTTC (p.Glu925Phefs) insertion Pathogenic rs797045646 GRCh38 Chromosome X, 74741784: 74741785
17 NEXMIF NM_001008537.2(NEXMIF): c.2772_2773insTTTC (p.Glu925Phefs) insertion Pathogenic rs797045646 GRCh37 Chromosome X, 73961619: 73961620
18 NEXMIF NM_001008537.2(NEXMIF): c.2999_3000delCT (p.Ser1000Cysfs) deletion Pathogenic rs875989829 GRCh37 Chromosome X, 73961392: 73961393
19 NEXMIF NM_001008537.2(NEXMIF): c.2999_3000delCT (p.Ser1000Cysfs) deletion Pathogenic rs875989829 GRCh38 Chromosome X, 74741557: 74741558
20 NEXMIF NM_001008537.2(NEXMIF): c.1441C> T (p.Arg481Ter) single nucleotide variant Pathogenic rs886041701 GRCh37 Chromosome X, 73962951: 73962951
21 NEXMIF NM_001008537.2(NEXMIF): c.1441C> T (p.Arg481Ter) single nucleotide variant Pathogenic rs886041701 GRCh38 Chromosome X, 74743116: 74743116
22 NEXMIF NM_001008537.2(NEXMIF): c.640delG (p.Ala214Glnfs) deletion Pathogenic rs886042158 GRCh37 Chromosome X, 73963752: 73963752
23 NEXMIF NM_001008537.2(NEXMIF): c.640delG (p.Ala214Glnfs) deletion Pathogenic rs886042158 GRCh38 Chromosome X, 74743917: 74743917
24 NEXMIF NM_001008537.2(NEXMIF): c.133G> A (p.Ala45Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199960807 GRCh37 Chromosome X, 73964259: 73964259
25 NEXMIF NM_001008537.2(NEXMIF): c.133G> A (p.Ala45Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199960807 GRCh38 Chromosome X, 74744424: 74744424
26 NEXMIF NM_001008537.2(NEXMIF): c.4248dupT (p.Gly1417Trpfs) duplication Pathogenic rs1057518728 GRCh37 Chromosome X, 73960144: 73960144
27 NEXMIF NM_001008537.2(NEXMIF): c.4248dupT (p.Gly1417Trpfs) duplication Pathogenic rs1057518728 GRCh38 Chromosome X, 74740309: 74740309
28 NEXMIF NM_001008537.2(NEXMIF): c.1376_1377delGT (p.Cys459Terfs) deletion Pathogenic rs1057518730 GRCh37 Chromosome X, 73963015: 73963016
29 NEXMIF NM_001008537.2(NEXMIF): c.1376_1377delGT (p.Cys459Terfs) deletion Pathogenic rs1057518730 GRCh38 Chromosome X, 74743180: 74743181
30 NEXMIF NM_001008537.2(NEXMIF): c.3470C> A (p.Ser1157Ter) single nucleotide variant Pathogenic rs1060499652 GRCh38 Chromosome X, 74741087: 74741087
31 NEXMIF NM_001008537.2(NEXMIF): c.3470C> A (p.Ser1157Ter) single nucleotide variant Pathogenic rs1060499652 GRCh37 Chromosome X, 73960922: 73960922
32 NEXMIF NM_001008537.2(NEXMIF): c.4338G> A (p.Lys1446=) single nucleotide variant Likely benign rs200805356 GRCh37 Chromosome X, 73960054: 73960054
33 NEXMIF NM_001008537.2(NEXMIF): c.4338G> A (p.Lys1446=) single nucleotide variant Likely benign rs200805356 GRCh38 Chromosome X, 74740219: 74740219
34 NEXMIF NM_001008537.2(NEXMIF): c.2130G> A (p.Lys710=) single nucleotide variant Conflicting interpretations of pathogenicity rs749479992 GRCh38 Chromosome X, 74742427: 74742427
35 NEXMIF NM_001008537.2(NEXMIF): c.2130G> A (p.Lys710=) single nucleotide variant Conflicting interpretations of pathogenicity rs749479992 GRCh37 Chromosome X, 73962262: 73962262
36 NEXMIF NM_001008537.2(NEXMIF): c.2098G> C (p.Val700Leu) single nucleotide variant Benign/Likely benign rs141776597 GRCh38 Chromosome X, 74742459: 74742459
37 NEXMIF NM_001008537.2(NEXMIF): c.2098G> C (p.Val700Leu) single nucleotide variant Benign/Likely benign rs141776597 GRCh37 Chromosome X, 73962294: 73962294
38 NEXMIF NM_001008537.2(NEXMIF): c.1597delC (p.Arg533Valfs) deletion Pathogenic GRCh38 Chromosome X, 74742960: 74742960
39 NEXMIF NM_001008537.2(NEXMIF): c.1597delC (p.Arg533Valfs) deletion Pathogenic GRCh37 Chromosome X, 73962795: 73962795
40 NEXMIF NM_001008537.2(NEXMIF): c.206C> T (p.Ser69Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201351157 GRCh38 Chromosome X, 74744351: 74744351
41 NEXMIF NM_001008537.2(NEXMIF): c.206C> T (p.Ser69Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201351157 GRCh37 Chromosome X, 73964186: 73964186
42 NEXMIF NM_001008537.2(NEXMIF): c.438C> A (p.Cys146Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 74744119: 74744119
43 NEXMIF NM_001008537.2(NEXMIF): c.438C> A (p.Cys146Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 73963954: 73963954
44 NEXMIF NM_001008537.2(NEXMIF): c.964C> T (p.Arg322Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 74743593: 74743593
45 NEXMIF NM_001008537.2(NEXMIF): c.964C> T (p.Arg322Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 73963428: 73963428
46 NEXMIF NM_001008537.2(NEXMIF): c.2042delG (p.Gly681Valfs) deletion Pathogenic GRCh37 Chromosome X, 73962350: 73962350
47 NEXMIF NM_001008537.2(NEXMIF): c.2042delG (p.Gly681Valfs) deletion Pathogenic GRCh38 Chromosome X, 74742515: 74742515
48 NEXMIF NM_001008537.2(NEXMIF): c.4205A> G (p.Asn1402Ser) single nucleotide variant Likely benign rs140532942 GRCh38 Chromosome X, 74740352: 74740352
49 NEXMIF NM_001008537.2(NEXMIF): c.4205A> G (p.Asn1402Ser) single nucleotide variant Likely benign rs140532942 GRCh37 Chromosome X, 73960187: 73960187
50 NEXMIF NM_001008537.2(NEXMIF): c.3011_3014delGTAA (p.Ser1004Ilefs) deletion Pathogenic GRCh37 Chromosome X, 73961378: 73961381

Expression for Mental Retardation, X-Linked 98

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Pathways for Mental Retardation, X-Linked 98

GO Terms for Mental Retardation, X-Linked 98

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