MCID: MNT176
MIFTS: 22

Mental Retardation, Autosomal Recessive 38

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Fetal diseases, Cardiovascular diseases, Bone diseases, Eye diseases

Aliases & Classifications for Mental Retardation, Autosomal Recessive 38

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 38:

Name: Mental Retardation, Autosomal Recessive 38 54 24 71 29 69
Developmental Delay with Autism Spectrum Disorder and Gait Instability 56
Developmental Delay with Asd and Gait Instability 56
Mrt38 71

Characteristics:

Orphanet epidemiological data:

56
developmental delay with autism spectrum disorder and gait instability
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
reported in individuals of amish or mennonite descent


HPO:

32
mental retardation, autosomal recessive 38:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 38

UniProtKB/Swiss-Prot : 71 Mental retardation, autosomal recessive 38: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT38 is characterized by global developmental delay affecting motor, speech, adaptive, and social development. Patients manifest autistic features, aggression, self-injury, impulsivity, and distractibility.

MalaCards based summary : Mental Retardation, Autosomal Recessive 38, is also known as developmental delay with autism spectrum disorder and gait instability, and has symptoms including strabismus, seizures and unsteady gait. An important gene associated with Mental Retardation, Autosomal Recessive 38 is HERC2 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2).

Description from OMIM: 615516

Related Diseases for Mental Retardation, Autosomal Recessive 38

Diseases in the Mental Retardation, Autosomal Dominant 22 family:

Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Dominant, 27
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Recessive, 52
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Dominant 23
Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 5 Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Dominant 8 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Recessive, 37
Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Dominant 6
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Dominant 7
Mental Retardation, Autosomal Dominant 10 Mental Retardation 105

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 38

Symptoms via clinical synopsis from OMIM:

54

Muscle Soft Tissue:
hypotonia

Head And Neck- Eyes:
strabismus
blue irides

Neurologic- Behavioral Psychiatric Manifestations:
hyperactivity
aggressive behavior
self-mutilation
autistic features
poor concentration
more
Head And Neck- Head:
plagiocephaly

Neurologic- Central Nervous System:
delayed psychomotor development
mental retardation
seizures (in some patients)
gait instability
delayed ambulation
more
Head And Neck- Mouth:
narrow palate

Head And Neck- Face:
prognathism

Skeletal- Feet:
sandal gap
pronation of the feet
elongated hallux


Clinical features from OMIM:

615516

Human phenotypes related to Mental Retardation, Autosomal Recessive 38:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 strabismus 32 HP:0000486
2 seizures 32 occasional (7.5%) HP:0001250
3 unsteady gait 32 HP:0002317
4 global developmental delay 32 HP:0001263
5 narrow palate 32 HP:0000189
6 intellectual disability 32 HP:0001249
7 hyperactivity 32 HP:0000752
8 aggressive behavior 32 HP:0000718
9 self-mutilation 32 HP:0000742
10 plagiocephaly 32 HP:0001357
11 sandal gap 32 HP:0001852
12 muscular hypotonia 32 HP:0001252
13 blue irides 32 HP:0000635
14 mandibular prognathia 32 HP:0000303

UMLS symptoms related to Mental Retardation, Autosomal Recessive 38:


pronation of the feet

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 38

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 38

Genetic Tests for Mental Retardation, Autosomal Recessive 38

Genetic tests related to Mental Retardation, Autosomal Recessive 38:

id Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 38 29 24 HERC2

Anatomical Context for Mental Retardation, Autosomal Recessive 38

Publications for Mental Retardation, Autosomal Recessive 38

Variations for Mental Retardation, Autosomal Recessive 38

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 38:

71
id Symbol AA change Variation ID SNP ID
1 HERC2 p.Pro594Leu VAR_069282 rs397518474

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 38:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HERC2 NM_004667.5(HERC2): c.1781C> T (p.Pro594Leu) single nucleotide variant Pathogenic rs397518474 GRCh37 Chromosome 15, 28510853: 28510853

Expression for Mental Retardation, Autosomal Recessive 38

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 38.

Pathways for Mental Retardation, Autosomal Recessive 38

GO Terms for Mental Retardation, Autosomal Recessive 38

Sources for Mental Retardation, Autosomal Recessive 38

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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