MRD26
MCID: MNT212
MIFTS: 29

Mental Retardation, Autosomal Dominant 26 (MRD26)

Categories: Bone diseases, Cardiovascular diseases, 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 Dominant 26

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 26:

Name: Mental Retardation, Autosomal Dominant 26 57 75 29 6 73
Mrd26 57 12 75
Autosomal Dominant Non-Syndromic Intellectual Disability 26 12
Autism Spectrum Disorder Due to Auts2 Deficiency 59
Mental Retardation, Autosomal Dominant, Type 26 40
Autosomal Dominant Mental Retardation 26 12
Asd Due to Auts2 Deficiency 59
Auts2 Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
autism spectrum disorder due to auts2 deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable features
dysmorphic features may be subtle


HPO:

32
mental retardation, autosomal dominant 26:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 26

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 26: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD26 features include autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms.

MalaCards based summary : Mental Retardation, Autosomal Dominant 26, is also known as mrd26. An important gene associated with Mental Retardation, Autosomal Dominant 26 is AUTS2 (AUTS2, Activator Of Transcription And Developmental Regulator). Affiliated tissues include skin, bone and eye, and related phenotypes are hypertelorism and low-set ears

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of AUTS2 on chromosome 7q11.22.

Description from OMIM: 615834

Related Diseases for Mental Retardation, Autosomal Dominant 26

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 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
Autosomal Dominant Mental Retardation 55

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 26

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
downslanting palpebral fissures
high-arched eyebrows
more
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
speech delay
learning difficulties
hypertonia (in some patients)
more
Head And Neck Head:
microcephaly
brachycephaly

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Nose:
prominent nasal tip
broad nasal base
deep nasal bridge

Growth Weight:
low birth weight

Skeletal:
joint contractures (in some patients)

Skeletal Hands:
shallow palmar creases

Head And Neck Ears:
low-set ears

Skeletal Spine:
scoliosis
kyphosis

Growth Height:
short stature

Head And Neck Face:
short philtrum

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Skeletal Feet:
tight heel cords
arched feet
foot misalignment

Head And Neck Mouth:
wide mouth (in some patients)
thick lips (in some patients)
narrow mouth (in some patients)


Clinical features from OMIM:

615834

Human phenotypes related to Mental Retardation, Autosomal Dominant 26:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 ptosis 32 HP:0000508
4 intellectual disability 32 HP:0001249
5 scoliosis 32 HP:0002650
6 kyphosis 32 HP:0002808
7 global developmental delay 32 HP:0001263
8 delayed speech and language development 32 HP:0000750
9 abnormal facial shape 32 HP:0001999
10 thick vermilion border 32 occasional (7.5%) HP:0012471
11 microcephaly 32 HP:0000252
12 thick eyebrow 32 HP:0000574
13 short stature 32 HP:0004322
14 hypertonia 32 occasional (7.5%) HP:0001276
15 brachycephaly 32 HP:0000248
16 feeding difficulties 32 HP:0011968
17 strabismus 32 HP:0000486
18 autism 32 HP:0000717
19 arthrogryposis multiplex congenita 32 HP:0002804
20 wide mouth 32 occasional (7.5%) HP:0000154
21 short philtrum 32 HP:0000322
22 downslanted palpebral fissures 32 HP:0000494
23 narrow mouth 32 HP:0000160
24 highly arched eyebrow 32 HP:0002553
25 cerebral palsy 32 HP:0100021
26 short palpebral fissure 32 HP:0012745
27 prominent nasal tip 32 HP:0005274
28 wide nasal base 32 HP:0012810
29 small for gestational age 32 HP:0001518
30 decreased palmar creases 32 HP:0006184

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 26

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 26

Genetic Tests for Mental Retardation, Autosomal Dominant 26

Genetic tests related to Mental Retardation, Autosomal Dominant 26:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 26 29 AUTS2

Anatomical Context for Mental Retardation, Autosomal Dominant 26

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 26:

41
Skin, Bone, Eye

Publications for Mental Retardation, Autosomal Dominant 26

Articles related to Mental Retardation, Autosomal Dominant 26:

# Title Authors Year
1
AUTS2 Syndrome in a 68-year-old female: Natural history and further delineation of the phenotype. ( 27531620 )
2016
2
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. ( 27075013 )
2016
3
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome. ( 25205402 )
2015

Variations for Mental Retardation, Autosomal Dominant 26

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 26:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 AUTS2 NC_000007.14 deletion Pathogenic GRCh38 Chromosome 7, 69899499: 70435751
2 AUTS2 NC_000007.14 deletion Pathogenic GRCh38 Chromosome 7, 70435782: 70768023
3 AUTS2 NM_015570.3(AUTS2): c.857_858delAA (p.Lys286Argfs) deletion Pathogenic rs864321694 GRCh37 Chromosome 7, 70227970: 70227971
4 AUTS2 NM_015570.3(AUTS2): c.857_858delAA (p.Lys286Argfs) deletion Pathogenic rs864321694 GRCh38 Chromosome 7, 70762984: 70762985
5 AUTS2 NC_000007.14 deletion Pathogenic GRCh37 Chromosome 7, 69985843: 70228020
6 AUTS2 NC_000007.14 deletion Pathogenic GRCh38 Chromosome 7, 70520857: 70763034
7 AUTS2 NM_015570.3(AUTS2): c.1485_1486insC (p.Gln496Profs) insertion Likely pathogenic rs869312878 GRCh37 Chromosome 7, 70231117: 70231117
8 AUTS2 NM_015570.3(AUTS2): c.1485_1486insC (p.Gln496Profs) insertion Likely pathogenic rs869312878 GRCh38 Chromosome 7, 70766131: 70766131
9 AUTS2 NM_015570.3(AUTS2): c.1295C> A (p.Pro432His) single nucleotide variant Conflicting interpretations of pathogenicity rs767529359 GRCh37 Chromosome 7, 70229818: 70229818
10 AUTS2 NM_015570.3(AUTS2): c.1295C> A (p.Pro432His) single nucleotide variant Conflicting interpretations of pathogenicity rs767529359 GRCh38 Chromosome 7, 70764832: 70764832
11 AUTS2 NM_015570.3(AUTS2): c.946C> T (p.Arg316Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 70228059: 70228059
12 AUTS2 NM_015570.3(AUTS2): c.946C> T (p.Arg316Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 70763073: 70763073
13 AUTS2 NM_015570.3(AUTS2): c.1247A> G (p.Gln416Arg) single nucleotide variant Uncertain significance rs143679158 GRCh38 Chromosome 7, 70764784: 70764784
14 AUTS2 NM_015570.3(AUTS2): c.1247A> G (p.Gln416Arg) single nucleotide variant Uncertain significance rs143679158 GRCh37 Chromosome 7, 70229770: 70229770
15 AUTS2 NM_015570.3(AUTS2): c.357_361dup (p.Leu121Argfs) duplication Pathogenic GRCh38 Chromosome 7, 69899333: 69899337
16 AUTS2 NM_015570.3(AUTS2): c.357_361dup (p.Leu121Argfs) duplication Pathogenic GRCh37 Chromosome 7, 69364319: 69364323
17 AUTS2 NC_000007.13: g.69503431_69901030dup duplication Uncertain significance GRCh37 Chromosome 7, 69503431: 69901030
18 AUTS2 NM_015570.3(AUTS2): c.1603C> T (p.His535Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 70231234: 70231234
19 AUTS2 NM_015570.3(AUTS2): c.1603C> T (p.His535Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 70766248: 70766248

Expression for Mental Retardation, Autosomal Dominant 26

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 26.

Pathways for Mental Retardation, Autosomal Dominant 26

GO Terms for Mental Retardation, Autosomal Dominant 26

Sources for Mental Retardation, Autosomal Dominant 26

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
Content
Loading form....