MCID: MNT229
MIFTS: 25

Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance

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

Aliases & Classifications for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and...

MalaCards integrated aliases for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance:

Name: Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 57 13
Mental Retardation X-Linked with Cerebellar Hypoplasia and Distinctive Facial Appearance 75 29 6
Mental Retardation, X-Linked, with Cerebellar Hypoplasia, Distinctive Facial Appearance 40
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome 59
Mental Retardation, X-Linked 60, Formerly; Mrx60, Formerly 57
Mental Retardation, X-Linked, Syndromic, Ophn1-Related 75
Mental Retardation, X-Linked 60, Formerly 57
Mental Retardation X-Linked 60 75
Oligophrenin-1 Syndrome 59
Mrx60, Formerly 57
Ophn1 Syndrome 59
Mrx60 75
Mrxso 75

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability-cerebellar hypoplasia syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
onset in infancy
most carrier females have mild mental retardation and subtle facial changes

Inheritance:
x-linked recessive


HPO:

32
mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance:
Onset and clinical course infantile onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and...

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked, syndromic, OPHN1-related: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSO patients manifest mental retardation associated with cerebellar hypoplasia and distinctive facial dysmorphism.

MalaCards based summary : Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance, also known as mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance, is related to ophn1 syndrome. An important gene associated with Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance is OPHN1 (Oligophrenin 1). Affiliated tissues include eye and brain, and related phenotypes are frontal bossing and intellectual disability

Description from OMIM: 300486

Related Diseases for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and...

Diseases related to Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ophn1 syndrome 11.4

Symptoms & Phenotypes for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
seizures
spasticity
cerebellar hypoplasia
retrocerebellar cyst
disorganization of the anterior cerebellar vermis
more
GenitourinaryInternal GenitaliaMale:
cryptorchidism

Head And Neck Mouth:
thin upper lip

Genitourinary External Genitalia Male:
hypoplastic scrotum
microphallus

Head And Neck Eyes:
nystagmus
strabismus
hypotelorism
deep-set eyes

Head And Neck Face:
prominent supraorbital ridges
prominent forehead
short philtrum
long face
prominent chin
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features

Head And Neck Ears:
large ears

Head And Neck Nose:
long, tubular nose


Clinical features from OMIM:

300486

Human phenotypes related to Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 Occasional (29-5%) HP:0002007
2 intellectual disability 59 32 Very frequent (99-80%) HP:0001249
3 seizures 59 32 Frequent (79-30%) HP:0001250
4 muscular hypotonia 59 32 Frequent (79-30%) HP:0001252
5 macrotia 59 32 Occasional (29-5%) HP:0000400
6 global developmental delay 59 32 Very frequent (99-80%) HP:0001263
7 prominent forehead 59 32 Occasional (29-5%) HP:0011220
8 strabismus 59 32 Frequent (79-30%) HP:0000486
9 cryptorchidism 59 32 Occasional (29-5%) HP:0000028
10 cerebellar hypoplasia 59 32 Very frequent (99-80%) HP:0001321
11 deeply set eye 59 32 Occasional (29-5%) HP:0000490
12 long face 59 32 Occasional (29-5%) HP:0000276
13 retrocerebellar cyst 59 32 Very frequent (99-80%) HP:0006951
14 disorganization of the anterior cerebellar vermis 59 32 Very frequent (99-80%) HP:0007065
15 macrocephaly 32 HP:0000256
16 nystagmus 32 HP:0000639
17 ataxia 59 Occasional (29-5%)
18 spasticity 32 HP:0001257
19 neurological speech impairment 59 Frequent (79-30%)
20 mandibular prognathia 32 HP:0000303
21 prominent supraorbital ridges 32 HP:0000336
22 delayed speech and language development 32 HP:0000750
23 abnormal facial shape 59 Very frequent (99-80%)
24 autism 59 Frequent (79-30%)
25 attention deficit hyperactivity disorder 59 Frequent (79-30%)
26 gait ataxia 32 HP:0002066
27 dysmetria 59 Very frequent (99-80%)
28 ventriculomegaly 59 Occasional (29-5%)
29 cerebral cortical atrophy 59 Occasional (29-5%)
30 short philtrum 32 HP:0000322
31 thin upper lip vermilion 32 HP:0000219
32 hypotelorism 32 HP:0000601
33 long nose 32 HP:0003189
34 scrotal hypoplasia 32 HP:0000046
35 micropenis 32 HP:0000054
36 hyperactivity 32 HP:0000752
37 abnormality of the philtrum 59 Occasional (29-5%)
38 generalized hypotonia 32 HP:0001290
39 enlarged cisterna magna 32 HP:0002280
40 microphallus 32 HP:0030260

Drugs & Therapeutics for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and...

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance

Genetic Tests for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and...

Genetic tests related to Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance:

# Genetic test Affiliating Genes
1 Mental Retardation X-Linked with Cerebellar Hypoplasia and Distinctive Facial Appearance 29 OPHN1

Anatomical Context for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and...

MalaCards organs/tissues related to Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance:

41
Eye, Brain

Publications for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and...

Variations for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and...

ClinVar genetic disease variations for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance:

6
(show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 OPHN1 OPHN1, 1-BP DEL, NT1578 deletion Pathogenic
2 OPHN1 OPHN1, 8-BP DUP duplication Pathogenic
3 OPHN1 NM_002547.2(OPHN1): c.184C> T (p.Gln62Ter) single nucleotide variant Pathogenic rs137854493 GRCh37 Chromosome X, 67518909: 67518909
4 OPHN1 NM_002547.2(OPHN1): c.184C> T (p.Gln62Ter) single nucleotide variant Pathogenic rs137854493 GRCh38 Chromosome X, 68299067: 68299067
5 OPHN1 OPHN1, 17.6-KB DEL deletion Pathogenic
6 OPHN1 OPHN1, 2-BP DEL, NT642 deletion Pathogenic
7 OPHN1 NG_008960.1: g.224486-?_245539+?del deletion Pathogenic
8 OPHN1 NM_002547.2(OPHN1): c.2159-4C> T single nucleotide variant Uncertain significance rs587784233 GRCh37 Chromosome X, 67273656: 67273656
9 OPHN1 NM_002547.2(OPHN1): c.2159-4C> T single nucleotide variant Uncertain significance rs587784233 GRCh38 Chromosome X, 68053814: 68053814
10 OPHN1 NM_002547.2(OPHN1): c.902C> T (p.Thr301Met) single nucleotide variant Benign rs138108344 GRCh37 Chromosome X, 67426446: 67426446
11 OPHN1 NM_002547.2(OPHN1): c.902C> T (p.Thr301Met) single nucleotide variant Benign rs138108344 GRCh38 Chromosome X, 68206604: 68206604
12 OPHN1 NM_002547.2(OPHN1): c.702+11A> C single nucleotide variant Conflicting interpretations of pathogenicity rs375325266 GRCh37 Chromosome X, 67431939: 67431939
13 OPHN1 NM_002547.2(OPHN1): c.702+11A> C single nucleotide variant Conflicting interpretations of pathogenicity rs375325266 GRCh38 Chromosome X, 68212097: 68212097
14 OPHN1 NM_002547.2(OPHN1): c.496C> T (p.Gln166Ter) single nucleotide variant Pathogenic rs587784234 GRCh37 Chromosome X, 67433805: 67433805
15 OPHN1 NM_002547.2(OPHN1): c.496C> T (p.Gln166Ter) single nucleotide variant Pathogenic rs587784234 GRCh38 Chromosome X, 68213963: 68213963
16 OPHN1 NM_002547.2(OPHN1): c.2035G> A (p.Asp679Asn) single nucleotide variant Likely pathogenic rs869312676 GRCh37 Chromosome X, 67283819: 67283819
17 OPHN1 NM_002547.2(OPHN1): c.2035G> A (p.Asp679Asn) single nucleotide variant Likely pathogenic rs869312676 GRCh38 Chromosome X, 68063977: 68063977
18 OPHN1 NM_002547.2(OPHN1): c.772delC (p.Gln258Argfs) deletion Pathogenic rs886044499 GRCh37 Chromosome X, 67430055: 67430055
19 OPHN1 NM_002547.2(OPHN1): c.772delC (p.Gln258Argfs) deletion Pathogenic rs886044499 GRCh38 Chromosome X, 68210213: 68210213
20 OPHN1 NM_002547.2(OPHN1): c.2168A> G (p.Asp723Gly) single nucleotide variant Likely pathogenic rs374431961 GRCh38 Chromosome X, 68053801: 68053801
21 OPHN1 NM_002547.2(OPHN1): c.2168A> G (p.Asp723Gly) single nucleotide variant Likely pathogenic rs374431961 GRCh37 Chromosome X, 67273643: 67273643
22 OPHN1 NM_002547.2(OPHN1): c.215T> C (p.Ile72Thr) single nucleotide variant Likely pathogenic rs763066236 GRCh38 Chromosome X, 68299036: 68299036
23 OPHN1 NM_002547.2(OPHN1): c.215T> C (p.Ile72Thr) single nucleotide variant Likely pathogenic rs763066236 GRCh37 Chromosome X, 67518878: 67518878

Expression for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and...

Search GEO for disease gene expression data for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance.

Pathways for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and...

GO Terms for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and...

Sources for Mental Retardation, X-Linked, with Cerebellar Hypoplasia and...

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