MCID: MNT212
MIFTS: 23

Mental Retardation, Autosomal Dominant 26

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 26

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 26:

Name: Mental Retardation, Autosomal Dominant 26 54 24 71 29 69
Auts2 Syndrome 24 56
Mrd26 24 71
Auts2-Related Intellectual Disability with or Without Autistic Spectrum Disorder 24
Autism Spectrum Disorder Due to Auts2 Deficiency 56
Asd Due to Auts2 Deficiency 56

Characteristics:

Orphanet epidemiological data:

56
autism spectrum disorder due to auts2 deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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 : 71 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 auts2 syndrome, and has symptoms including short stature, scoliosis and ptosis. An important gene associated with Mental Retardation, Autosomal Dominant 26 is AUTS2 (AUTS2, Activator Of Transcription And Developmental Regulator).

Description from OMIM: 615834

Related Diseases for Mental Retardation, Autosomal Dominant 26

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 Dominant 26

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Eyes:
thick eyebrows
strabismus
downslanting palpebral fissures
ptosis
hypertelorism
more
Head And Neck- Head:
microcephaly
brachycephaly

Head And Neck- Face:
short philtrum

Abdomen- Gastroin testinal:
feeding difficulties

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

Skeletal:
joint contractures (in some patients)

Skeletal- Feet:
tight heel cords
arched feet
foot misalignment

Skeletal- Spine:
scoliosis
kyphosis

Neurologic- Central Nervous System:
delayed psychomotor development
speech delay
intellectual disability
learning difficulties
hypertonia (in some patients)
more
Head And Neck- Ears:
low-set ears

Growth- Weight:
low birth weight

Neurologic- Behavioral Psychiatric Manifestations:
autistic features

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

Skeletal- Hands:
shallow palmar creases


Clinical features from OMIM:

615834

Human phenotypes related to Mental Retardation, Autosomal Dominant 26:

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 scoliosis 32 HP:0002650
3 ptosis 32 HP:0000508
4 microcephaly 32 HP:0000252
5 hypertelorism 32 HP:0000316
6 kyphosis 32 HP:0002808
7 arthrogryposis multiplex congenita 32 HP:0002804
8 short philtrum 32 HP:0000322
9 intellectual disability 32 HP:0001249
10 autism 32 HP:0000717
11 feeding difficulties 32 HP:0011968
12 prominent nasal tip 32 HP:0005274
13 cerebral palsy 32 HP:0100021
14 short palpebral fissure 32 HP:0012745
15 narrow mouth 32 HP:0000160
16 decreased palmar creases 32 HP:0006184
17 abnormal facial shape 32 HP:0001999

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 26

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

id Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 26 29 24 AUTS2

Anatomical Context for Mental Retardation, Autosomal Dominant 26

Publications for Mental Retardation, Autosomal Dominant 26

Variations for Mental Retardation, Autosomal Dominant 26

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

6
id 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 NC_000007.14 deletion Pathogenic GRCh37 Chromosome 7, 69985843: 70228020
5 AUTS2 NM_015570.3(AUTS2): c.1485_1486insC (p.Gln496Profs) insertion Likely pathogenic rs869312878 GRCh37 Chromosome 7, 70231117: 70231117

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
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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