MRX104
MCID: MNT267
MIFTS: 21

Mental Retardation, X-Linked 104 (MRX104)

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

Aliases & Classifications for Mental Retardation, X-Linked 104

MalaCards integrated aliases for Mental Retardation, X-Linked 104:

Name: Mental Retardation, X-Linked 104 58 76 30 6
Mrx104 58 76

Characteristics:

OMIM:

58
Miscellaneous:
onset in infancy
variable features
carrier females may be mildly affected

Inheritance:
x-linked


HPO:

33
mental retardation, x-linked 104:
Onset and clinical course infantile onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 104

UniProtKB/Swiss-Prot : 76 Mental retardation, X-linked 104: 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. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.

MalaCards based summary : Mental Retardation, X-Linked 104, is also known as mrx104. An important gene associated with Mental Retardation, X-Linked 104 is FRMPD4 (FERM And PDZ Domain Containing 4). Affiliated tissues include eye and brain, and related phenotypes are seizures and nystagmus

Description from OMIM: 300983

Symptoms & Phenotypes for Mental Retardation, X-Linked 104

Human phenotypes related to Mental Retardation, X-Linked 104:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 nystagmus 33 HP:0000639
3 intellectual disability 33 HP:0001249
4 ataxia 33 HP:0001251
5 spasticity 33 HP:0001257
6 tremor 33 HP:0001337
7 hyperreflexia 33 HP:0001347
8 global developmental delay 33 HP:0001263
9 optic atrophy 33 HP:0000648
10 retrognathia 33 HP:0000278
11 strabismus 33 HP:0000486
12 absent speech 33 HP:0001344
13 cerebral cortical atrophy 33 HP:0002120
14 aggressive behavior 33 HP:0000718
15 high forehead 33 HP:0000348
16 hypoplasia of the corpus callosum 33 HP:0002079
17 hyperactivity 33 HP:0000752
18 poor eye contact 33 HP:0000817
19 delayed myelination 33 HP:0012448
20 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
optic atrophy
strabismus
poor eye contact
ophthalmic abnormalities (in some patients)

Head And Neck Face:
retrognathia
high forehead
dysmorphic features, nonspecific (in some patients)

Head And Neck Nose:
broad nasal bridge

Head And Neck Mouth:
high-arched palate

Neurologic Central Nervous System:
intellectual disability
ataxia
spasticity
tremor
hyperreflexia
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features
aggression
behavioral abnormalities

Head And Neck Ears:
dysplastic ears

Skin Nails Hair Hair:
frontal upsweep

Clinical features from OMIM:

300983

Drugs & Therapeutics for Mental Retardation, X-Linked 104

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 104

Genetic Tests for Mental Retardation, X-Linked 104

Genetic tests related to Mental Retardation, X-Linked 104:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked 104 30 FRMPD4

Anatomical Context for Mental Retardation, X-Linked 104

MalaCards organs/tissues related to Mental Retardation, X-Linked 104:

42
Eye, Brain

Publications for Mental Retardation, X-Linked 104

Articles related to Mental Retardation, X-Linked 104:

# Title Authors Year
1
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. ( 29267967 )
2018
2
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. ( 25644381 )
2016

Variations for Mental Retardation, X-Linked 104

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked 104:

76
# Symbol AA change Variation ID SNP ID
1 FRMPD4 p.Cys553Arg VAR_077481 rs886038209

ClinVar genetic disease variations for Mental Retardation, X-Linked 104:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FRMPD4 NM_014728.3(FRMPD4): c.1847delC (p.Cys618Valfs) deletion Pathogenic rs886038208 GRCh37 Chromosome X, 12734425: 12734425
2 FRMPD4 NM_014728.3(FRMPD4): c.1847delC (p.Cys618Valfs) deletion Pathogenic rs886038208 GRCh38 Chromosome X, 12716306: 12716306
3 FRMPD4 NM_014728.3(FRMPD4): c.1657T> C (p.Cys553Arg) single nucleotide variant Pathogenic rs886038209 GRCh37 Chromosome X, 12734235: 12734235
4 FRMPD4 NM_014728.3(FRMPD4): c.1657T> C (p.Cys553Arg) single nucleotide variant Pathogenic rs886038209 GRCh38 Chromosome X, 12716116: 12716116
5 FRMPD4 NC_000023.10: g.12515801_12581900del66100 deletion Pathogenic GRCh37 Chromosome X, 12515801: 12581900
6 FRMPD4 NM_014728.3(FRMPD4): c.856C> T (p.Arg286Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 12712496: 12712496
7 FRMPD4 NM_014728.3(FRMPD4): c.856C> T (p.Arg286Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 12694377: 12694377

Expression for Mental Retardation, X-Linked 104

Search GEO for disease gene expression data for Mental Retardation, X-Linked 104.

Pathways for Mental Retardation, X-Linked 104

GO Terms for Mental Retardation, X-Linked 104

Sources for Mental Retardation, X-Linked 104

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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