MRT61
MCID: MNT325
MIFTS: 26

Mental Retardation, Autosomal Recessive 61 (MRT61)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mental Retardation, Autosomal Recessive 61

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 61:

Name: Mental Retardation, Autosomal Recessive 61 57 75 6
Alwadei Syndrome 57 75
Mrt61 57 75
Autosomal Recessive Mental Retardation 61 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable dysmorphic features
two brothers and an unrelated girl from the middle east have been reported (last curated november 2017)


HPO:

32
mental retardation, autosomal recessive 61:
Onset and clinical course infantile onset


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 61

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal recessive 61: 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. MRT61 patients manifest delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. Refractory seizures and brain abnormalities are present in severely affected patients.

MalaCards based summary : Mental Retardation, Autosomal Recessive 61, is also known as alwadei syndrome. An important gene associated with Mental Retardation, Autosomal Recessive 61 is RUSC2 (RUN And SH3 Domain Containing 2). Affiliated tissues include brain, skin and bone, and related phenotypes are hypertelorism and low-set ears

Disease Ontology : 12 An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.

OMIM : 57 MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016). (617773)

Related Diseases for Mental Retardation, Autosomal Recessive 61

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Recessive 16 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Recessive 35
Mental Retardation, Autosomal Recessive 36 Mental Retardation, Autosomal Recessive 37
Mental Retardation, Autosomal Dominant 21 Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 39 Mental Retardation, Autosomal Recessive 40
Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Dominant 23
Mental Retardation, Autosomal Recessive 42 Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 27 Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Dominant 29
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Recessive 46
Mental Retardation, Autosomal Dominant 31 Mental Retardation, Autosomal Recessive 47
Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Dominant 33
Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 38
Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Dominant 39
Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Recessive 51
Mental Retardation, Autosomal Recessive 52 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 42
Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Recessive 56 Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Recessive 58 Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 48 Mental Retardation, Autosomal Dominant 49
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Autosomal Dominant Mental Retardation 55

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 61

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
long eyelashes
synophrys
thick eyebrows
arched eyebrows

Neurologic Central Nervous System:
spasticity
hyperreflexia
global developmental delay
extensor plantar responses
delayed walking
more
Muscle Soft Tissue:
decreased muscle mass
axial hypotonia

Head And Neck Nose:
bulbous nose
prominent nose

Head And Neck Face:
prognathism
long facies
dark infraorbital region

Head And Neck Teeth:
conical teeth

Skeletal Hands:
tapering fingers
prominent finger volar pads

Skin Nails Hair Hair:
dense hair

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Spine:
scoliosis

Skeletal Feet:
pes cavus
pes equinovarus
everted feet

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features
aggression
inattention

Head And Neck Mouth:
high-arched palate

Head And Neck Head:
dolicocephaly
microcephaly, postnatal, mild

Skeletal:
joint hyperlaxity (in some patients)


Clinical features from OMIM:

617773

Human phenotypes related to Mental Retardation, Autosomal Recessive 61:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 intellectual disability 32 HP:0001249
4 spasticity 32 HP:0001257
5 hyperreflexia 32 HP:0001347
6 eeg abnormality 32 very rare (1%) HP:0002353
7 mandibular prognathia 32 HP:0000303
8 global developmental delay 32 HP:0001263
9 delayed speech and language development 32 HP:0000750
10 thick eyebrow 32 HP:0000574
11 decreased muscle mass 32 HP:0003199
12 babinski sign 32 HP:0003487
13 pes cavus 32 HP:0001761
14 talipes equinovarus 32 HP:0001762
15 aggressive behavior 32 HP:0000718
16 long face 32 HP:0000276
17 bulbous nose 32 HP:0000414
18 highly arched eyebrow 32 HP:0002553
19 long eyelashes 32 HP:0000527
20 synophrys 32 HP:0000664
21 tapered finger 32 HP:0001182
22 hypoplasia of the corpus callosum 32 very rare (1%) HP:0002079
23 hyperactivity 32 HP:0000752
24 prominent nose 32 HP:0000448
25 postnatal microcephaly 32 HP:0005484
26 posteriorly rotated ears 32 HP:0000358
27 muscular hypotonia of the trunk 32 HP:0008936
28 delayed ability to walk 32 HP:0031936

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 61

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 61

Genetic Tests for Mental Retardation, Autosomal Recessive 61

Anatomical Context for Mental Retardation, Autosomal Recessive 61

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 61:

41
Brain, Skin, Bone, Eye

Publications for Mental Retardation, Autosomal Recessive 61

Variations for Mental Retardation, Autosomal Recessive 61

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 61:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RUSC2 NM_014806.4(RUSC2): c.2596C> T (p.Arg866Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 35555638: 35555638
2 RUSC2 NM_014806.4(RUSC2): c.2596C> T (p.Arg866Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 35555641: 35555641
3 RUSC2 NM_014806.4(RUSC2): c.3952C> T (p.Arg1318Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 35560592: 35560592
4 RUSC2 NM_014806.4(RUSC2): c.3952C> T (p.Arg1318Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 35560589: 35560589

Expression for Mental Retardation, Autosomal Recessive 61

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 61.

Pathways for Mental Retardation, Autosomal Recessive 61

GO Terms for Mental Retardation, Autosomal Recessive 61

Sources for Mental Retardation, Autosomal Recessive 61

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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49 NCI
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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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