MCID: MNT176
MIFTS: 23

Mental Retardation, Autosomal Recessive 38

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

Aliases & Classifications for Mental Retardation, Autosomal Recessive 38

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 38:

Name: Mental Retardation, Autosomal Recessive 38 57 75 29 6 73
Mrt38 57 75
Developmental Delay with Autism Spectrum Disorder and Gait Instability 59
Developmental Delay with Asd and Gait Instability 59
Mental Retardation, Autosomal Recessive, Type 38 40

Characteristics:

Orphanet epidemiological data:

59
developmental delay with autism spectrum disorder and gait instability
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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 : 75 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 pronation of the feet An important gene associated with Mental Retardation, Autosomal Recessive 38 is HERC2 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2). Related phenotypes are narrow palate and mandibular prognathia

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 Autosomal Dominant Mental Retardation 55
Autosomal Dominant Mental Retardation 61

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 38

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
narrow palate

Skeletal Feet:
sandal gap
pronation of the feet
elongated hallux

Head And Neck Head:
plagiocephaly

Head And Neck Face:
prognathism

Head And Neck Eyes:
strabismus
blue irides

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:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 narrow palate 32 HP:0000189
2 mandibular prognathia 32 HP:0000303
3 strabismus 32 HP:0000486
4 blue irides 32 HP:0000635
5 aggressive behavior 32 HP:0000718
6 self-mutilation 32 HP:0000742
7 hyperactivity 32 HP:0000752
8 intellectual disability 32 HP:0001249
9 seizures 32 occasional (7.5%) HP:0001250
10 global developmental delay 32 HP:0001263
11 generalized hypotonia 32 HP:0001290
12 plagiocephaly 32 HP:0001357
13 sandal gap 32 HP:0001852
14 unsteady gait 32 HP:0002317

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 29 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:

75
# 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
2 HERC2 NM_004667.5(HERC2): c.1781C> T (p.Pro594Leu) single nucleotide variant Pathogenic rs397518474 GRCh38 Chromosome 15, 28265707: 28265707
3 HERC2 NM_004667.5(HERC2): c.12801T> A (p.Asp4267Glu) single nucleotide variant Benign rs373175587 GRCh37 Chromosome 15, 28375310: 28375310
4 HERC2 NM_004667.5(HERC2): c.12801T> A (p.Asp4267Glu) single nucleotide variant Benign rs373175587 GRCh38 Chromosome 15, 28130164: 28130164
5 HERC2 NM_004667.5(HERC2): c.9710T> A (p.Leu3237Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 28420779: 28420779
6 HERC2 NM_004667.5(HERC2): c.9710T> A (p.Leu3237Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 28175633: 28175633
7 HERC2 NM_004667.5(HERC2): c.6335C> T (p.Ser2112Phe) single nucleotide variant Uncertain significance rs542163867 GRCh38 Chromosome 15, 28214678: 28214678
8 HERC2 NM_004667.5(HERC2): c.6335C> T (p.Ser2112Phe) single nucleotide variant Uncertain significance rs542163867 GRCh37 Chromosome 15, 28459824: 28459824

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
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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