MCID: MNT176
MIFTS: 22

Mental Retardation, Autosomal Recessive 38

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

Aliases & Classifications for Mental Retardation, Autosomal Recessive 38

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 38:

Name: Mental Retardation, Autosomal Recessive 38 53 71 28 69
Mrt38 53 71
Developmental Delay with Autism Spectrum Disorder and Gait Instability 55
Developmental Delay with Asd and Gait Instability 55

Characteristics:

Orphanet epidemiological data:

55
developmental delay with autism spectrum disorder and gait instability
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
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 mrt38, and has symptoms including seizures, intellectual disability and narrow palate. 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 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

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 38

Symptoms via clinical synopsis from OMIM:

53
Skeletal Feet:
pronation of the feet
sandal gap
elongated hallux

Head And Neck Eyes:
strabismus
blue irides

Head And Neck Head:
plagiocephaly

Head And Neck Face:
prognathism

Head And Neck Mouth:
narrow palate

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
hyperactivity
self-mutilation
autistic features
poor concentration
more
Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
mental retardation
delayed psychomotor development
seizures (in some patients)
gait instability
delayed ambulation
more

Clinical features from OMIM:

615516

Human phenotypes related to Mental Retardation, Autosomal Recessive 38:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 HP:0001249
3 narrow palate 31 HP:0000189
4 mandibular prognathia 31 HP:0000303
5 global developmental delay 31 HP:0001263
6 strabismus 31 HP:0000486
7 blue irides 31 HP:0000635
8 sandal gap 31 HP:0001852
9 aggressive behavior 31 HP:0000718
10 plagiocephaly 31 HP:0001357
11 hyperactivity 31 HP:0000752
12 generalized hypotonia 31 HP:0001290
13 unsteady gait 31 HP:0002317
14 self-mutilation 31 HP:0000742

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:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 38 28 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
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....