MRT61
MCID: MNT325
MIFTS: 24

Mental Retardation, Autosomal Recessive 61 (MRT61)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare 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 72 6
Alwadei Syndrome 57 12 72
Mrt61 57 72
Autosomal Recessive Mental Retardation 61 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
mental retardation, autosomal recessive 61:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 61

UniProtKB/Swiss-Prot : 72 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). Related phenotypes are eeg abnormality and hypoplasia of the corpus callosum

Disease Ontology : 12 An autosomal recessive non-syndromic intellectual disability that has material basis in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) 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) (Updated 05-Apr-2021)

Wikipedia : 73 Alwadei Syndrome or Autosomal recessive mental retardation-61 (MRT61) is an autosomal recessive... more...

Related Diseases for Mental Retardation, Autosomal Recessive 61

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 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 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 26
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 Recessive 48
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 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 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
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 61

Human phenotypes related to Mental Retardation, Autosomal Recessive 61:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 eeg abnormality 31 very rare (1%) HP:0002353
2 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
3 intellectual disability 31 HP:0001249
4 spasticity 31 HP:0001257
5 hyperreflexia 31 HP:0001347
6 scoliosis 31 HP:0002650
7 high palate 31 HP:0000218
8 global developmental delay 31 HP:0001263
9 hypertelorism 31 HP:0000316
10 mandibular prognathia 31 HP:0000303
11 delayed speech and language development 31 HP:0000750
12 thick eyebrow 31 HP:0000574
13 decreased muscle mass 31 HP:0003199
14 low-set ears 31 HP:0000369
15 talipes equinovarus 31 HP:0001762
16 highly arched eyebrow 31 HP:0002553
17 long face 31 HP:0000276
18 bulbous nose 31 HP:0000414
19 pes cavus 31 HP:0001761
20 synophrys 31 HP:0000664
21 tapered finger 31 HP:0001182
22 babinski sign 31 HP:0003487
23 long eyelashes 31 HP:0000527
24 posteriorly rotated ears 31 HP:0000358
25 prominent nose 31 HP:0000448
26 postnatal microcephaly 31 HP:0005484
27 aggressive behavior 31 HP:0000718
28 hyperactivity 31 HP:0000752
29 muscular hypotonia of the trunk 31 HP:0008936
30 conical tooth 31 HP:0000698
31 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
global developmental delay
extensor plantar responses
delayed walking
more
Head And Neck Eyes:
hypertelorism
synophrys
long eyelashes
thick eyebrows
arched eyebrows

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

Skeletal Feet:
pes cavus
pes equinovarus
everted feet

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

Skeletal Spine:
scoliosis

Muscle Soft Tissue:
decreased muscle mass
axial hypotonia

Head And Neck Nose:
bulbous nose
prominent nose

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 (Updated 05-Apr-2021)

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

Publications for Mental Retardation, Autosomal Recessive 61

Articles related to Mental Retardation, Autosomal Recessive 61:

# Title Authors PMID Year
1
Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly. 6 57
27612186 2016

Variations for Mental Retardation, Autosomal Recessive 61

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

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RUSC2 NM_014806.5(RUSC2):c.2596C>T (p.Arg866Ter) SNV Pathogenic 446385 rs1402086660 GRCh37: 9:35555638-35555638
GRCh38: 9:35555641-35555641
2 RUSC2 NM_014806.5(RUSC2):c.3952C>T (p.Arg1318Ter) SNV Pathogenic 446386 rs1554645052 GRCh37: 9:35560589-35560589
GRCh38: 9:35560592-35560592
3 RUSC2 NM_014806.5(RUSC2):c.2773C>T (p.Arg925Ter) SNV Likely pathogenic 931076 GRCh37: 9:35556065-35556065
GRCh38: 9:35556068-35556068
4 RUSC2 NM_014806.5(RUSC2):c.119C>A (p.Thr40Lys) SNV Uncertain significance 1027718 GRCh37: 9:35546637-35546637
GRCh38: 9:35546640-35546640
5 RUSC2 NM_014806.5(RUSC2):c.2132G>A (p.Arg711Gln) SNV Uncertain significance 1027719 GRCh37: 9:35555174-35555174
GRCh38: 9:35555177-35555177
6 RUSC2 NM_014806.5(RUSC2):c.2959T>G (p.Ser987Ala) SNV Uncertain significance 1027720 GRCh37: 9:35556421-35556421
GRCh38: 9:35556424-35556424
7 RUSC2 NM_014806.5(RUSC2):c.3044G>A (p.Arg1015Gln) SNV Uncertain significance 1027721 GRCh37: 9:35557971-35557971
GRCh38: 9:35557974-35557974
8 RUSC2 NM_014806.5(RUSC2):c.380C>T (p.Thr127Ile) SNV Uncertain significance 1027722 GRCh37: 9:35546898-35546898
GRCh38: 9:35546901-35546901
9 RUSC2 NM_014806.5(RUSC2):c.61C>T (p.His21Tyr) SNV Uncertain significance 1027723 GRCh37: 9:35546579-35546579
GRCh38: 9:35546582-35546582
10 RUSC2 NM_014806.5(RUSC2):c.1418C>T (p.Pro473Leu) SNV Uncertain significance 787071 rs61740253 GRCh37: 9:35547936-35547936
GRCh38: 9:35547939-35547939
11 RUSC2 NM_014806.5(RUSC2):c.1568G>A (p.Arg523His) SNV Uncertain significance 1031865 GRCh37: 9:35548086-35548086
GRCh38: 9:35548089-35548089
12 RUSC2 NM_014806.5(RUSC2):c.1747C>T (p.Arg583Trp) SNV Uncertain significance 1031866 GRCh37: 9:35548265-35548265
GRCh38: 9:35548268-35548268
13 RUSC2 NM_014806.5(RUSC2):c.2324C>T (p.Ser775Leu) SNV Uncertain significance 1031867 GRCh37: 9:35555366-35555366
GRCh38: 9:35555369-35555369
14 RUSC2 NM_014806.5(RUSC2):c.2614C>T (p.Arg872Trp) SNV Uncertain significance 1031868 GRCh37: 9:35555656-35555656
GRCh38: 9:35555659-35555659
15 RUSC2 NM_014806.5(RUSC2):c.3557G>A (p.Arg1186Gln) SNV Uncertain significance 1031869 GRCh37: 9:35560194-35560194
GRCh38: 9:35560197-35560197
16 RUSC2 NM_014806.5(RUSC2):c.3877C>T (p.Arg1293Cys) SNV Uncertain significance 1031870 GRCh37: 9:35560514-35560514
GRCh38: 9:35560517-35560517
17 RUSC2 NM_014806.5(RUSC2):c.3908A>G (p.Lys1303Arg) SNV Uncertain significance 1031871 GRCh37: 9:35560545-35560545
GRCh38: 9:35560548-35560548
18 RUSC2 NM_014806.5(RUSC2):c.4078C>T (p.Arg1360Trp) SNV Uncertain significance 1031872 GRCh37: 9:35560715-35560715
GRCh38: 9:35560718-35560718
19 RUSC2 NM_014806.5(RUSC2):c.567C>A (p.His189Gln) SNV Uncertain significance 1031873 GRCh37: 9:35547085-35547085
GRCh38: 9:35547088-35547088

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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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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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