MRX104
MCID: MNT267
MIFTS: 25

Mental Retardation, X-Linked 104 (MRX104)

Categories: Fetal diseases, 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 57 72 29 6
Mrx104 57 12 72
Non-Syndromic X-Linked Intellectual Disability 104 12
Mental Retardation, X-Linked, Type 104 39
X-Linked Mental Retardation 104 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
onset in infancy
variable features
carrier females may be mildly affected

Inheritance:
x-linked


HPO:

31
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 : 72 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 seizure and intellectual disability

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has material basis in hemizygous mutation in FRMPD4 on chromosome Xp22.2.

More information from OMIM: 300983 PS309530

Symptoms & Phenotypes for Mental Retardation, X-Linked 104

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

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 HP:0001249
3 spasticity 31 HP:0001257
4 hyperreflexia 31 HP:0001347
5 nystagmus 31 HP:0000639
6 ataxia 31 HP:0001251
7 tremor 31 HP:0001337
8 high palate 31 HP:0000218
9 global developmental delay 31 HP:0001263
10 wide nasal bridge 31 HP:0000431
11 optic atrophy 31 HP:0000648
12 strabismus 31 HP:0000486
13 absent speech 31 HP:0001344
14 retrognathia 31 HP:0000278
15 cerebral cortical atrophy 31 HP:0002120
16 high forehead 31 HP:0000348
17 hypoplasia of the corpus callosum 31 HP:0002079
18 poor eye contact 31 HP:0000817
19 aggressive behavior 31 HP:0000718
20 hyperactivity 31 HP:0000752
21 abnormality of the pinna 31 HP:0000377
22 delayed myelination 31 HP:0012448
23 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
spasticity
hyperreflexia
ataxia
tremor
more
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

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

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
behavioral abnormalities
autistic features
aggression

Head And Neck Ears:
dysplastic ears

Skin Nails Hair Hair:
frontal upsweep

Clinical features from OMIM®:

300983 (Updated 20-May-2021)

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 29 FRMPD4

Anatomical Context for Mental Retardation, X-Linked 104

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

40
Eye, Brain

Publications for Mental Retardation, X-Linked 104

Articles related to Mental Retardation, X-Linked 104:

# Title Authors PMID Year
1
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. 6 57
29267967 2018
2
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 57 6
25644381 2016

Variations for Mental Retardation, X-Linked 104

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

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FRMPD4 NM_014728.3(FRMPD4):c.1851del (p.Cys618fs) Deletion Pathogenic 254682 rs886038208 GRCh37: X:12734425-12734425
GRCh38: X:12716306-12716306
2 FRMPD4 NM_014728.3(FRMPD4):c.1657T>C (p.Cys553Arg) SNV Pathogenic 254683 rs886038209 GRCh37: X:12734235-12734235
GRCh38: X:12716116-12716116
3 FRMPD4 NC_000023.10:g.12515801_12581900del Deletion Pathogenic 599279 GRCh37: X:12515801-12581900
GRCh38:
4 FRMPD4 NM_014728.3(FRMPD4):c.856C>T (p.Arg286Ter) SNV Pathogenic 599280 rs1569057837 GRCh37: X:12712496-12712496
GRCh38: X:12694377-12694377
5 FRMPD4 NM_001368397.1(FRMPD4):c.1298del (p.Lys433fs) Deletion Likely pathogenic 976150 GRCh37: X:12725595-12725595
GRCh38: X:12707476-12707476
6 FRMPD4 NM_001368397.1(FRMPD4):c.1423G>A (p.Glu475Lys) SNV Uncertain significance 982668 GRCh37: X:12725723-12725723
GRCh38: X:12707604-12707604
7 FRMPD4 NM_001368397.1(FRMPD4):c.1925C>T (p.Ala642Val) SNV Uncertain significance 931648 GRCh37: X:12734503-12734503
GRCh38: X:12716384-12716384
8 FRMPD4 NM_001368397.1(FRMPD4):c.1288C>G (p.Gln430Glu) SNV Uncertain significance 800513 rs1602353928 GRCh37: X:12725588-12725588
GRCh38: X:12707469-12707469
9 FRMPD4 NM_001368397.1(FRMPD4):c.1472C>G (p.Pro491Arg) SNV Uncertain significance 1031296 GRCh37: X:12728519-12728519
GRCh38: X:12710400-12710400
10 FRMPD4 NM_001368397.1(FRMPD4):c.1937C>T (p.Pro646Leu) SNV Uncertain significance 1031297 GRCh37: X:12734515-12734515
GRCh38: X:12716396-12716396
11 FRMPD4 NM_001368397.1(FRMPD4):c.3281A>T (p.Tyr1094Phe) SNV Uncertain significance 1031298 GRCh37: X:12736226-12736226
GRCh38: X:12718107-12718107
12 FRMPD4 NM_001368397.1(FRMPD4):c.422+9C>T SNV Uncertain significance 1031299 GRCh37: X:12633009-12633009
GRCh38: X:12614890-12614890
13 FRMPD4 NM_001368397.1(FRMPD4):c.2183C>T (p.Ala728Val) SNV Uncertain significance 1032633 GRCh37: X:12734761-12734761
GRCh38: X:12716642-12716642
14 FRMPD4 NM_001368397.1(FRMPD4):c.3040C>A (p.Leu1014Met) SNV Uncertain significance 1032634 GRCh37: X:12735985-12735985
GRCh38: X:12717866-12717866
15 FRMPD4 NM_001368397.1(FRMPD4):c.3312A>G (p.Lys1104=) SNV Uncertain significance 1032635 GRCh37: X:12736257-12736257
GRCh38: X:12718138-12718138
16 FRMPD4 NM_001368397.1(FRMPD4):c.580G>A (p.Val194Ile) SNV Uncertain significance 915396 GRCh37: X:12704222-12704222
GRCh38: X:12686103-12686103

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

72
# Symbol AA change Variation ID SNP ID
1 FRMPD4 p.Cys553Arg VAR_077481 rs886038209

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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