MCID: MNT271
MIFTS: 18

Mental Retardation, X-Linked 61

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

Aliases & Classifications for Mental Retardation, X-Linked 61

MalaCards integrated aliases for Mental Retardation, X-Linked 61:

Name: Mental Retardation, X-Linked 61 57 75 6
Mrx61 57 75

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
four unrelated families have been reported (last curated august 2016)


HPO:

32
mental retardation, x-linked 61:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 61

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked 61: 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 61, is also known as mrx61. An important gene associated with Mental Retardation, X-Linked 61 is RLIM (Ring Finger Protein, LIM Domain Interacting). Related phenotypes are cryptorchidism and microcephaly

Description from OMIM: 300978

Symptoms & Phenotypes for Mental Retardation, X-Linked 61

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
poor speech
delayed psychomotor development
stiff gait (family a)

Head And Neck Head:
microcephaly (family b)

Head And Neck Eyes:
hypertelorism (family a)

Abdomen Gastrointestinal:
feeding difficulties (family a)

Skin Nails Hair Hair:
fine hair (family a)
receding hairline (family a)

Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral problems (family b)

Head And Neck Face:
broad forehead (family a)
micrognathia (family b)

Head And Neck Nose:
broad nasal bridge (family a)
large nose (family a)

GenitourinaryInternal GenitaliaMale:
cryptorchidism (family b)


Clinical features from OMIM:

300978

Human phenotypes related to Mental Retardation, X-Linked 61:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 microcephaly 32 HP:0000252
3 hypertelorism 32 HP:0000316
4 broad forehead 32 HP:0000337
5 micrognathia 32 HP:0000347
6 wide nasal bridge 32 HP:0000431
7 prominent nose 32 HP:0000448
8 behavioral abnormality 32 HP:0000708
9 intellectual disability 32 HP:0001249
10 global developmental delay 32 HP:0001263
11 fine hair 32 HP:0002213
12 poor speech 32 HP:0002465
13 feeding difficulties 32 HP:0011968

Drugs & Therapeutics for Mental Retardation, X-Linked 61

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 61

Genetic Tests for Mental Retardation, X-Linked 61

Anatomical Context for Mental Retardation, X-Linked 61

Publications for Mental Retardation, X-Linked 61

Variations for Mental Retardation, X-Linked 61

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked 61:

75
# Symbol AA change Variation ID SNP ID
1 RLIM p.Tyr356Cys VAR_077826 rs786205133
2 RLIM p.Arg387Cys VAR_077827
3 RLIM p.Pro587Arg VAR_077828
4 RLIM p.Arg599Cys VAR_077829

ClinVar genetic disease variations for Mental Retardation, X-Linked 61:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RLIM NM_183353.2(RLIM): c.1067A> G (p.Tyr356Cys) single nucleotide variant Pathogenic/Likely pathogenic rs786205133 GRCh37 Chromosome X, 73812083: 73812083
2 RLIM NM_183353.2(RLIM): c.1067A> G (p.Tyr356Cys) single nucleotide variant Pathogenic/Likely pathogenic rs786205133 GRCh38 Chromosome X, 74592248: 74592248
3 RLIM RLIM, PRO587ARG single nucleotide variant Pathogenic
4 RLIM RLIM, ARG387CYS single nucleotide variant Pathogenic
5 RLIM RLIM, ARG599CYS single nucleotide variant Pathogenic

Expression for Mental Retardation, X-Linked 61

Search GEO for disease gene expression data for Mental Retardation, X-Linked 61.

Pathways for Mental Retardation, X-Linked 61

GO Terms for Mental Retardation, X-Linked 61

Sources for Mental Retardation, X-Linked 61

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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