MCID: MNT118
MIFTS: 17

Mental Retardation, Anterior Maxillary Protrusion, and Strabismus

Categories: Genetic diseases, Neuronal diseases, Mental 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 75 29 13 6 40 73
Mrams 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mental retardation, anterior maxillary protrusion, and strabismus:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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, is also known as mrams. An important gene associated with Mental Retardation, Anterior Maxillary Protrusion, and Strabismus is SOBP (Sine Oculis Binding Protein Homolog). Affiliated tissues include temporal lobe, and related phenotypes are visual impairment and hypermetropia

Description from OMIM: 613671

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
open bite
prominent, crowded teeth

Neurologic Central Nervous System:
poor speech
mental retardation, severe
delayed psychomotor development
delayed speech development
temporal lobe epilepsy (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 Behavioral Psychiatric Manifestations:
short attention span
psychosis (1 patient)

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

Skeletal:
hyperlaxity


Clinical features from OMIM:

613671

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 occasional (7.5%) HP:0000505
2 hypermetropia 32 occasional (7.5%) HP:0000540
3 esotropia 32 occasional (7.5%) HP:0000565
4 amblyopia 32 occasional (7.5%) HP:0000646
5 psychosis 32 occasional (7.5%) HP:0000709
6 short attention span 32 HP:0000736
7 delayed speech and language development 32 HP:0000750
8 global developmental delay 32 HP:0001263
9 poor speech 32 HP:0002465
10 open bite 32 HP:0010807
11 intellectual disability, severe 32 HP:0010864

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:

41
Temporal Lobe

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

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SOBP NM_018013.3(SOBP): c.1981C> T (p.Arg661Ter) single nucleotide variant Pathogenic rs267607078 GRCh37 Chromosome 6, 107956029: 107956029
2 SOBP NM_018013.3(SOBP): c.1981C> T (p.Arg661Ter) single nucleotide variant Pathogenic rs267607078 GRCh38 Chromosome 6, 107634825: 107634825

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 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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