MCID: MNT279
MIFTS: 18

Mental Retardation, Autosomal Dominant 47

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 47

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 47:

Name: Mental Retardation, Autosomal Dominant 47 57 75 6
Mrd47 57 75
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome 59
Autosomal Dominant Mental Retardation 47 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in most patients)
one family with autosomal dominant transmission has been reported (last curated august 2017)


Classifications:



External Ids:

OMIM 57 617635
Disease Ontology 12 DOID:0080238
Orphanet 59 ORPHA502434
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Dominant 47

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 47: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD47 patients manifest developmental delay and mild to moderate intellectual disability, usually with delayed speech.

MalaCards based summary : Mental Retardation, Autosomal Dominant 47, is also known as mrd47. An important gene associated with Mental Retardation, Autosomal Dominant 47 is STAG1 (Stromal Antigen 1). Affiliated tissues include eye.

Description from OMIM: 617635

Related Diseases for Mental Retardation, Autosomal Dominant 47

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 47

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly, mild (in some patients)

Head And Neck Eyes:
deep-set eyes
thin eyebrows

Head And Neck Mouth:
wide mouth

Abdomen:
feeding difficulties
gastroesophageal reflux

Skeletal:
joint hyperlaxity

Neurologic Central Nervous System:
delayed psychomotor development
intellectual disability, mild to severe
speech delay
seizures (in some patients)
cerebral atrophy (in some patients)

Head And Neck Face:
variable dysmorphic features

Head And Neck Nose:
high nasal bridge

Head And Neck Teeth:
widely-spaced incisors

Genitourinary External Genitalia Male:
cryptorchidism

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features


Clinical features from OMIM:

617635

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 47

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 47

Genetic Tests for Mental Retardation, Autosomal Dominant 47

Anatomical Context for Mental Retardation, Autosomal Dominant 47

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 47:

41
Eye

Publications for Mental Retardation, Autosomal Dominant 47

Variations for Mental Retardation, Autosomal Dominant 47

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 47:

75
# Symbol AA change Variation ID SNP ID
1 STAG1 p.Gln214Arg VAR_079487
2 STAG1 p.Arg216Gly VAR_079488
3 STAG1 p.His220Arg VAR_079489 rs1057519153Mental
4 STAG1 p.Lys333Gln VAR_079490
5 STAG1 p.Leu351Trp VAR_079491
6 STAG1 p.Arg373Gln VAR_079492
7 STAG1 p.His478Pro VAR_079493
8 STAG1 p.Lys979Arg VAR_079494

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 47:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 STAG1 STAG1, 173-BP DEL deletion Pathogenic
2 STAG1 NM_005862.2(STAG1): c.1433A> C (p.His478Pro) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 3, 136162242: 136162242
3 STAG1 NM_005862.2(STAG1): c.1433A> C (p.His478Pro) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 3, 136443400: 136443400
4 STAG1 NM_005862.2(STAG1): c.646A> G (p.Arg216Gly) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 3, 136240085: 136240085
5 STAG1 NM_005862.2(STAG1): c.646A> G (p.Arg216Gly) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 3, 136521243: 136521243
6 STAG1 NM_005862.2(STAG1): c.1118G> A (p.Arg373Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 136473546: 136473546
7 STAG1 NM_005862.2(STAG1): c.1118G> A (p.Arg373Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 136192388: 136192388
8 STAG1 NM_005862.2(STAG1): c.1460_1464dup (p.Trp489Valfs) duplication Pathogenic/Likely pathogenic GRCh37 Chromosome 3, 136162211: 136162215
9 STAG1 NM_005862.2(STAG1): c.1460_1464dup (p.Trp489Valfs) duplication Pathogenic/Likely pathogenic GRCh38 Chromosome 3, 136443369: 136443373
10 STAG1 NM_005862.2(STAG1): c.1736dup (p.Ser580Valfs) duplication Pathogenic/Likely pathogenic GRCh37 Chromosome 3, 136141801: 136141801
11 STAG1 NM_005862.2(STAG1): c.1736dup (p.Ser580Valfs) duplication Pathogenic/Likely pathogenic GRCh38 Chromosome 3, 136422959: 136422959

Expression for Mental Retardation, Autosomal Dominant 47

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 47.

Pathways for Mental Retardation, Autosomal Dominant 47

GO Terms for Mental Retardation, Autosomal Dominant 47

Sources for Mental Retardation, Autosomal Dominant 47

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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