MRAMS
MCID: MNT118
MIFTS: 26

Mental Retardation, Anterior Maxillary Protrusion, and Strabismus (MRAMS)

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

Aliases & Classifications for Mental Retardation, Anterior Maxillary Protrusion, and...

MalaCards integrated aliases for Mental Retardation, Anterior Maxillary Protrusion, and Strabismus:

Name: Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 57 72 29 13 6 39 70
Mrams 57 72
Anterior Maxillary Protrusion-Strabismus-Intellectual Disability Syndrome 58
Mrams Syndrome 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous family has been reported (last curated december 2010)


HPO:

31
mental retardation, anterior maxillary protrusion, and strabismus:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Mental Retardation, Anterior Maxillary Protrusion, and...

UniProtKB/Swiss-Prot : 72 Mental retardation, anterior maxillary protrusion, and strabismus: A syndrome characterized by severe mental retardation, strabismus and dysmorphic features such as anterior maxillary protrusion with vertical maxillary excess, open bite and prominent crowded teeth. Some patients may lack dysmorphic features and manifest temporal lobe epilepsy and psychosis. Esotropia and amblyopia are present in some individuals.

MalaCards based summary : Mental Retardation, Anterior Maxillary Protrusion, and Strabismus, also known as mrams, is related to strabismus and autosomal recessive disease. An important gene associated with Mental Retardation, Anterior Maxillary Protrusion, and Strabismus is SOBP (Sine Oculis Binding Protein Homolog). Affiliated tissues include eye and temporal lobe, and related phenotypes are amblyopia and psychosis

More information from OMIM: 613671

Related Diseases for Mental Retardation, Anterior Maxillary Protrusion, and...

Diseases related to Mental Retardation, Anterior Maxillary Protrusion, and Strabismus via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 strabismus 9.9
2 autosomal recessive disease 9.9
3 autosomal recessive non-syndromic intellectual disability 9.9
4 mechanical strabismus 9.9

Symptoms & Phenotypes for Mental Retardation, Anterior Maxillary Protrusion, and...

Human phenotypes related to Mental Retardation, Anterior Maxillary Protrusion, and Strabismus:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 amblyopia 31 occasional (7.5%) HP:0000646
2 psychosis 31 occasional (7.5%) HP:0000709
3 hypermetropia 31 occasional (7.5%) HP:0000540
4 esotropia 31 occasional (7.5%) HP:0000565
5 global developmental delay 31 HP:0001263
6 open bite 31 HP:0010807
7 delayed speech and language development 31 HP:0000750
8 intellectual disability, severe 31 HP:0010864
9 joint laxity 31 HP:0001388
10 short attention span 31 HP:0000736
11 poor speech 31 HP:0002465

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Teeth:
open bite
prominent, crowded teeth

Neurologic Behavioral Psychiatric Manifestations:
short attention span
psychosis (1 patient)

Head And Neck Face:
anterior maxillary protrusion

Head And Neck Mouth:
vertical maxillary excess

Head And Neck Eyes:
strabismus
esotropia (1 patient)
poor vision (1 patient)
amblyopia (1 patient)
hypermetropia (1 patient)

Neurologic Central Nervous System:
poor speech
mental retardation, severe
delayed psychomotor development
delayed speech development
temporal lobe epilepsy (1 patient)

Head And Neck Ears:
mild cochlear hearing loss (1 patient)

Skeletal:
hyperlaxity

Clinical features from OMIM®:

613671 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Anterior Maxillary Protrusion, and...

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Anterior Maxillary Protrusion, and Strabismus

Genetic Tests for Mental Retardation, Anterior Maxillary Protrusion, and...

Genetic tests related to Mental Retardation, Anterior Maxillary Protrusion, and Strabismus:

# Genetic test Affiliating Genes
1 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 29 SOBP

Anatomical Context for Mental Retardation, Anterior Maxillary Protrusion, and...

MalaCards organs/tissues related to Mental Retardation, Anterior Maxillary Protrusion, and Strabismus:

40
Eye, Temporal Lobe

Publications for Mental Retardation, Anterior Maxillary Protrusion, and...

Articles related to Mental Retardation, Anterior Maxillary Protrusion, and Strabismus:

# Title Authors PMID Year
1
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system. 57 6 61
21035105 2010
2
Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome. 57 61 6
17618476 2007
3
High prevalence of coinfection of azithromycin-resistant Mycoplasma genitalium with other STIs: a prospective observational study of London-based symptomatic and STI-contact clinic attendees. 61
32393529 2021
4
Meteorological Predictions for Mars 2020 Perseverance Rover Landing Site at Jezero Crater. 61
33536691 2020
5
A highly thermally stable sub-20 nm magnetic random-access memory based on perpendicular shape anisotropy. 61
29923577 2018
6
The Decline in HIV-1 Drug Resistance in Heavily Antiretroviral-Experienced Patients Is Associated with Optimized Prescriptions in a Treatment Roll-Out Program in Mexico. 61
28094565 2017
7
High-density magnetoresistive random access memory operating at ultralow voltage at room temperature. 61
22109527 2011
8
Magnetic random access memory (MRAM). 61
17455479 2007
9
Improvement of motor performance of HIV-positive patients under AZT therapy. 61
1565249 1992

Variations for Mental Retardation, Anterior Maxillary Protrusion, and...

ClinVar genetic disease variations for Mental Retardation, Anterior Maxillary Protrusion, and Strabismus:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOBP NM_018013.4(SOBP):c.1981C>T (p.Arg661Ter) SNV Pathogenic 18392 rs267607078 GRCh37: 6:107956029-107956029
GRCh38: 6:107634825-107634825
2 SOBP NM_018013.4(SOBP):c.1321C>T (p.Pro441Ser) SNV Uncertain significance 212276 rs201319446 GRCh37: 6:107955369-107955369
GRCh38: 6:107634165-107634165
3 SOBP NM_018013.4(SOBP):c.1729C>T (p.Pro577Ser) SNV Uncertain significance 436829 rs200685194 GRCh37: 6:107955777-107955777
GRCh38: 6:107634573-107634573
4 SOBP NM_018013.4(SOBP):c.2163C>A (p.Asn721Lys) SNV Uncertain significance 996991 GRCh37: 6:107956211-107956211
GRCh38: 6:107635007-107635007
5 SOBP NM_018013.4(SOBP):c.1810C>A (p.Gln604Lys) SNV Uncertain significance 130358 rs368271940 GRCh37: 6:107955858-107955858
GRCh38: 6:107634654-107634654
6 SOBP NM_018013.4(SOBP):c.415C>T (p.Pro139Ser) SNV Uncertain significance 1032014 GRCh37: 6:107827625-107827625
GRCh38: 6:107506421-107506421
7 SOBP NM_018013.4(SOBP):c.574-3C>T SNV Uncertain significance 1032015 GRCh37: 6:107908281-107908281
GRCh38: 6:107587077-107587077

Expression for Mental Retardation, Anterior Maxillary Protrusion, and...

Search GEO for disease gene expression data for Mental Retardation, Anterior Maxillary Protrusion, and Strabismus.

Pathways for Mental Retardation, Anterior Maxillary Protrusion, and...

GO Terms for Mental Retardation, Anterior Maxillary Protrusion, and...

Sources for Mental Retardation, Anterior Maxillary Protrusion, and...

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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