MCID: MNT322
MIFTS: 25

Mental Retardation, Autosomal Dominant 27

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 27

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 27:

Name: Mental Retardation, Autosomal Dominant 27 57 75 29 6 73
Mrd27 57 12 75
Autosomal Dominant Non-Syndromic Intellectual Disability 27 12
Mental Retardation, Autosomal Dominant, Type 27 40
Autosomal Dominant Mental Retardation 27 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
two patients have been described (last curated june 2014)


HPO:

32
mental retardation, autosomal dominant 27:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 27

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 27: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD27 patients show dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability.

MalaCards based summary : Mental Retardation, Autosomal Dominant 27, is also known as mrd27. An important gene associated with Mental Retardation, Autosomal Dominant 27 is SOX11 (SRY-Box 11). Affiliated tissues include kidney, and related phenotypes are low-set ears and clinodactyly

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SOX11 on chromosome 2p25.2.

Description from OMIM: 615866

Related Diseases for Mental Retardation, Autosomal Dominant 27

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 Dominant 27

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Feet:
clinodactyly

Growth Height:
short stature

Growth Other:
intrauterine growth retardation

Neurologic Central Nervous System:
mental retardation, mild

Head And Neck Eyes:
arched eyebrows

Skin Nails Hair Nails:
absent/hypoplastic fifth toenails
absent/hypoplastic fifth fingernails

Skeletal Hands:
clinodactyly

Head And Neck Head:
microcephaly

Head And Neck Face:
full cheeks

Skin Nails Hair Hair:
hypertrichosis
arched eyebrows

Head And Neck Mouth:
everted lower lip

Genitourinary Kidneys:
small kidney
malrotated kidneys, bilateral


Clinical features from OMIM:

615866

Human phenotypes related to Mental Retardation, Autosomal Dominant 27:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 clinodactyly 32 HP:0030084
3 intellectual disability 32 HP:0001249
4 depressed nasal bridge 32 HP:0005280
5 abnormal facial shape 32 HP:0001999
6 short nose 32 HP:0003196
7 thick vermilion border 32 HP:0012471
8 microcephaly 32 HP:0000252
9 short stature 32 HP:0004322
10 intellectual disability, mild 32 HP:0001256
11 full cheeks 32 HP:0000293
12 everted lower lip vermilion 32 HP:0000232
13 growth delay 32 HP:0001510
14 intrauterine growth retardation 32 HP:0001511
15 underdeveloped nasal alae 32 HP:0000430
16 short philtrum 32 HP:0000322
17 open mouth 32 HP:0000194
18 midface retrusion 32 HP:0011800
19 highly arched eyebrow 32 HP:0002553
20 short distal phalanx of finger 32 HP:0009882
21 long eyelashes 32 HP:0000527
22 long nose 32 HP:0003189
23 underdeveloped supraorbital ridges 32 HP:0009891
24 hypoplastic fifth toenail 32 HP:0011937
25 short palpebral fissure 32 HP:0012745
26 abnormality of the nares 32 HP:0005288
27 posteriorly rotated ears 32 HP:0000358
28 hypertrichosis 32 HP:0000998
29 short chin 32 HP:0000331
30 abnormality of the columella 32 HP:0009929

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 27

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 27

Genetic Tests for Mental Retardation, Autosomal Dominant 27

Genetic tests related to Mental Retardation, Autosomal Dominant 27:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 27 29 SOX11

Anatomical Context for Mental Retardation, Autosomal Dominant 27

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 27:

41
Kidney

Publications for Mental Retardation, Autosomal Dominant 27

Variations for Mental Retardation, Autosomal Dominant 27

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 27:

75
# Symbol AA change Variation ID SNP ID
1 SOX11 p.Ser60Pro VAR_071461 rs587777480
2 SOX11 p.Tyr116Cys VAR_071462 rs587777479

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 27:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SOX11 NM_003108.3(SOX11): c.347A> G (p.Tyr116Cys) single nucleotide variant Pathogenic rs587777479 GRCh37 Chromosome 2, 5833200: 5833200
2 SOX11 NM_003108.3(SOX11): c.347A> G (p.Tyr116Cys) single nucleotide variant Pathogenic rs587777479 GRCh38 Chromosome 2, 5693068: 5693068
3 SOX11 NM_003108.3(SOX11): c.178T> C (p.Ser60Pro) single nucleotide variant Pathogenic rs587777480 GRCh38 Chromosome 2, 5692899: 5692899
4 SOX11 NM_003108.3(SOX11): c.178T> C (p.Ser60Pro) single nucleotide variant Pathogenic rs587777480 GRCh37 Chromosome 2, 5833031: 5833031
5 SOX11 NM_003108.3(SOX11): c.1286G> A (p.Trp429Ter) single nucleotide variant Pathogenic rs1057518672 GRCh38 Chromosome 2, 5694007: 5694007
6 SOX11 NM_003108.3(SOX11): c.1286G> A (p.Trp429Ter) single nucleotide variant Pathogenic rs1057518672 GRCh37 Chromosome 2, 5834139: 5834139

Expression for Mental Retardation, Autosomal Dominant 27

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 27.

Pathways for Mental Retardation, Autosomal Dominant 27

GO Terms for Mental Retardation, Autosomal Dominant 27

Sources for Mental Retardation, Autosomal Dominant 27

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....