MRT38
MCID: MNT176
MIFTS: 24

Mental Retardation, Autosomal Recessive 38 (MRT38)

Categories: 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 38

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 38:

Name: Mental Retardation, Autosomal Recessive 38 56 73 29 6 71
Mrt38 56 73
Developmental Delay with Autism Spectrum Disorder and Gait Instability 58
Developmental Delay with Asd and Gait Instability 58
Mental Retardation, Autosomal Recessive, Type 38 39

Characteristics:

Orphanet epidemiological data:

58
developmental delay with autism spectrum disorder and gait instability
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
mental retardation, autosomal recessive 38:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 38

UniProtKB/Swiss-Prot : 73 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 seizure and intellectual disability

More information from OMIM: 615516 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 38

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 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 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 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 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 38

Human phenotypes related to Mental Retardation, Autosomal Recessive 38:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 very rare (1%) HP:0001249
3 global developmental delay 31 very rare (1%) HP:0001263
4 delayed speech and language development 31 very rare (1%) HP:0000750
5 neonatal hypotonia 31 very rare (1%) HP:0001319
6 autistic behavior 31 very rare (1%) HP:0000729
7 unsteady gait 31 very rare (1%) HP:0002317
8 self-mutilation 31 very rare (1%) HP:0000742
9 delayed ability to walk 31 very rare (1%) HP:0031936
10 febrile seizure (within the age range of 3 months to 6 years) 31 very rare (1%) HP:0002373
11 narrow palate 31 HP:0000189
12 mandibular prognathia 31 HP:0000303
13 strabismus 31 HP:0000486
14 blue irides 31 HP:0000635
15 sandal gap 31 HP:0001852
16 plagiocephaly 31 HP:0001357
17 aggressive behavior 31 HP:0000718
18 hyperactivity 31 HP:0000752
19 generalized hypotonia 31 HP:0001290
20 echolalia 31 HP:0010529
21 recurrent hand flapping 31 HP:0100023
22 diminished ability to concentrate 31 HP:0031987

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
narrow palate

Skeletal Feet:
sandal gap
pronation of the feet
elongated hallux

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

Head And Neck Eyes:
strabismus
blue irides

Head And Neck Head:
plagiocephaly

Muscle Soft Tissue:
hypotonia

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

Clinical features from OMIM:

615516

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

Articles related to Mental Retardation, Autosomal Recessive 38:

# Title Authors PMID Year
1
Mutation of HERC2 causes developmental delay with Angelman-like features. 6 56
23243086 2013
2
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. 6 56
23065719 2012

Variations for Mental Retardation, Autosomal Recessive 38

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

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HERC2 NM_004667.5(HERC2):c.9710T>A (p.Leu3237Ter)SNV Pathogenic 522952 rs1555415658 15:28420779-28420779 15:28175633-28175633
2 HERC2 GRCh37/hg19 15q12-13.1(chr15:27571956-28600013)copy number loss Pathogenic 813312 15:27571956-28600013
3 HERC2 NM_004667.6(HERC2):c.10855C>T (p.Pro3619Ser)SNV Pathogenic 870599 15:28397868-28397868 15:28152722-28152722
4 HERC2 NM_004667.5(HERC2):c.1781C>T (p.Pro594Leu)SNV Pathogenic 88738 rs397518474 15:28510853-28510853 15:28265707-28265707
5 HERC2 NM_004667.5(HERC2):c.7701_7702GA[5] (p.Asn2570fs)short repeat Likely pathogenic 638463 15:28446609-28446610 15:28201463-28201464
6 HERC2 NM_004667.6(HERC2):c.4126C>T (p.Arg1376Ter)SNV Likely pathogenic 803061 15:28479308-28479308 15:28234162-28234162
7 HERC2 NM_004667.6(HERC2):c.1442C>T (p.Thr481Met)SNV Likely pathogenic 803062 15:28514398-28514398 15:28269252-28269252
8 HERC2 NM_004667.6(HERC2):c.7768_7772dup (p.Gly2592fs)duplication Likely pathogenic 804471 15:28443859-28443860 15:28198713-28198714
9 HERC2 NM_004667.5(HERC2):c.6287T>C (p.Leu2096Pro)SNV Uncertain significance 638478 15:28459872-28459872 15:28214726-28214726
10 HERC2 NM_004667.5(HERC2):c.6262G>A (p.Glu2088Lys)SNV Uncertain significance 638477 15:28459897-28459897 15:28214751-28214751
11 HERC2 NM_004667.5(HERC2):c.6335C>T (p.Ser2112Phe)SNV Uncertain significance 523075 rs542163867 15:28459824-28459824 15:28214678-28214678
12 HERC2 NM_004667.5(HERC2):c.10840G>A (p.Val3614Met)SNV Uncertain significance 548008 rs1344102518 15:28397883-28397883 15:28152737-28152737
13 HERC2 NM_004667.5(HERC2):c.3421A>G (p.Ile1141Val)SNV Uncertain significance 562222 rs753743625 15:28491183-28491183 15:28246037-28246037
14 HERC2 NM_004667.5(HERC2):c.9638G>A (p.Gly3213Glu)SNV Uncertain significance 638516 15:28421622-28421622 15:28176476-28176476
15 HERC2 NM_004667.5(HERC2):c.13612G>A (p.Val4538Met)SNV Uncertain significance 392903 rs149338352 15:28360685-28360685 15:28115539-28115539
16 HERC2 NM_004667.5(HERC2):c.12801T>A (p.Asp4267Glu)SNV Benign 242878 rs373175587 15:28375310-28375310 15:28130164-28130164

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

73
# Symbol AA change Variation ID SNP ID
1 HERC2 p.Pro594Leu VAR_069282 rs397518474

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....