MRD47
MCID: MNT279
MIFTS: 27

Mental Retardation, Autosomal Dominant 47 (MRD47)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare 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 72 6
Mrd47 57 72
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome 58
Autosomal Dominant Mental Retardation 47 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
mental retardation, autosomal dominant 47:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, Autosomal Dominant 47

UniProtKB/Swiss-Prot : 72 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, brain and kidney, and related phenotypes are global developmental delay and deeply set eye

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in heterozygous mutation in the STAG1 gene on chromosome 3q22.

More information from OMIM: 617635 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 47

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 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 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 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 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 Dominant 47

Human phenotypes related to Mental Retardation, Autosomal Dominant 47:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
3 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
4 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
5 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
6 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
7 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
8 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
9 thin eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0045074
10 seizure 31 very rare (1%) HP:0001250
11 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
12 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
13 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
14 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
15 microcephaly 58 31 very rare (1%) Occasional (29-5%) HP:0000252
16 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
17 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
18 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
19 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
20 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
21 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
22 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
23 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
24 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
25 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
26 cutis marmorata 58 31 occasional (7.5%) Occasional (29-5%) HP:0000965
27 long eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000527
28 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
29 single transverse palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0000954
30 brain atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012444
31 hypoplastic male external genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000050
32 2-3 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0004691
33 limited elbow extension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001377
34 epileptic encephalopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0200134
35 widely-spaced maxillary central incisors 58 31 occasional (7.5%) Occasional (29-5%) HP:0001566
36 hypotonia 31 occasional (7.5%) HP:0001252
37 cerebral atrophy 31 very rare (1%) HP:0002059
38 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
39 seizures 58 Frequent (79-30%)
40 muscular hypotonia 58 Occasional (29-5%)
41 delayed speech and language development 31 HP:0000750
42 abnormality of the upper limb 58 Occasional (29-5%)
43 generalized hypotonia 31 HP:0001290
44 widely-spaced incisors 31 HP:0006304

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen:
gastroesophageal reflux
feeding difficulties

Head And Neck Mouth:
wide mouth

Head And Neck Teeth:
widely-spaced incisors

Head And Neck Nose:
high nasal bridge

Skeletal:
joint hyperlaxity

Head And Neck Face:
variable dysmorphic features

Genitourinary External Genitalia Male:
cryptorchidism

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Head And Neck Eyes:
deep-set eyes
thin eyebrows

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

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

Clinical features from OMIM®:

617635 (Updated 05-Apr-2021)

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:

40
Eye, Brain, Kidney

Publications for Mental Retardation, Autosomal Dominant 47

Articles related to Mental Retardation, Autosomal Dominant 47:

# Title Authors PMID Year
1
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. 6 57
28119487 2017
2
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 6
30158690 2019

Variations for Mental Retardation, Autosomal Dominant 47

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

6 (show all 27)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAG1 STAG1, 173-BP DEL Deletion Pathogenic 437896 GRCh37:
GRCh38:
2 STAG1 NM_005862.3(STAG1):c.1433A>C (p.His478Pro) SNV Pathogenic 437897 rs1553722309 GRCh37: 3:136162242-136162242
GRCh38: 3:136443400-136443400
3 STAG1 NM_005862.3(STAG1):c.1460_1464dup (p.Trp489fs) Duplication Pathogenic 437900 rs1553722294 GRCh37: 3:136162210-136162211
GRCh38: 3:136443368-136443369
4 STAG1 NM_005862.3(STAG1):c.1736dup (p.Ser580fs) Duplication Pathogenic 437901 rs1553718528 GRCh37: 3:136141800-136141801
GRCh38: 3:136422958-136422959
5 STAG1 NM_005862.3(STAG1):c.646A>G (p.Arg216Gly) SNV Pathogenic 437898 rs1553738686 GRCh37: 3:136240085-136240085
GRCh38: 3:136521243-136521243
6 STAG1 NM_005862.3(STAG1):c.260del (p.Leu87fs) Deletion Pathogenic 802013 rs1576656734 GRCh37: 3:136323188-136323188
GRCh38: 3:136604346-136604346
7 STAG1 NM_005862.3(STAG1):c.391C>T (p.Arg131Ter) SNV Pathogenic 995415 GRCh37: 3:136287610-136287610
GRCh38: 3:136568768-136568768
8 STAG1 NM_005862.3(STAG1):c.2557dup (p.Glu853fs) Duplication Likely pathogenic 633008 rs1560062082 GRCh37: 3:136085912-136085913
GRCh38: 3:136367070-136367071
9 overlap with 5 genes GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1 copy number loss Likely pathogenic 523197 GRCh37: 3:135062410-136360844
GRCh38: 3:135343568-136642002
10 overlap with 10 genes GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1 copy number loss Likely pathogenic 523198 GRCh37: 3:135142319-136679992
GRCh38: 3:135423479-136961152
11 overlap with 19 genes GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1 copy number loss Likely pathogenic 523199 GRCh37: 3:132642704-136360844
GRCh38:
12 STAG1 NM_005862.3(STAG1):c.3261del (p.Lys1087fs) Deletion Likely pathogenic 559649 rs1553789166 GRCh37: 3:136068010-136068010
GRCh38: 3:136349168-136349168
13 STAG1 NM_005862.3(STAG1):c.2009_2012del (p.Asn670fs) Deletion Likely pathogenic 523186 rs1559791842 GRCh37: 3:136141277-136141280
GRCh38: 3:136422435-136422438
14 STAG1 NM_005862.3(STAG1):c.1129C>T (p.Arg377Cys) SNV Likely pathogenic 523187 rs1559824939 GRCh37: 3:136191331-136191331
GRCh38: 3:136472489-136472489
15 STAG1 NM_005862.3(STAG1):c.2936A>G (p.Lys979Arg) SNV Likely pathogenic 440451 rs1471479119 GRCh37: 3:136077990-136077990
GRCh38: 3:136359148-136359148
16 STAG1 NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) SNV Likely pathogenic 437899 rs1376334317 GRCh37: 3:136192388-136192388
GRCh38: 3:136473546-136473546
17 STAG1 NM_005862.3(STAG1):c.1442C>A (p.Ala481Glu) SNV Uncertain significance 1028431 GRCh37: 3:136162233-136162233
GRCh38: 3:136443391-136443391
18 STAG1 NM_005862.3(STAG1):c.2077T>C (p.Ser693Pro) SNV Uncertain significance 1028432 GRCh37: 3:136139966-136139966
GRCh38: 3:136421124-136421124
19 STAG1 NM_005862.3(STAG1):c.2285T>C (p.Leu762Ser) SNV Uncertain significance 1028433 GRCh37: 3:136096587-136096587
GRCh38: 3:136377745-136377745
20 STAG1 NM_005862.3(STAG1):c.2306T>C (p.Val769Ala) SNV Uncertain significance 1028434 GRCh37: 3:136096566-136096566
GRCh38: 3:136377724-136377724
21 STAG1 NM_005862.3(STAG1):c.42_44dup (p.Glu15_Thr16insAsp) Duplication Uncertain significance 1028435 GRCh37: 3:136342075-136342076
GRCh38: 3:136623233-136623234
22 STAG1 NM_005862.3(STAG1):c.1919A>G (p.Tyr640Cys) SNV Uncertain significance 1032365 GRCh37: 3:136141370-136141370
GRCh38: 3:136422528-136422528
23 STAG1 NM_005862.3(STAG1):c.2254A>C (p.Ile752Leu) SNV Uncertain significance 1032366 GRCh37: 3:136117614-136117614
GRCh38: 3:136398772-136398772
24 STAG1 NM_005862.3(STAG1):c.471+4T>G SNV Uncertain significance 1032367 GRCh37: 3:136260957-136260957
GRCh38: 3:136542115-136542115
25 STAG1 NM_005862.3(STAG1):c.253G>A (p.Val85Ile) SNV Uncertain significance 523188 rs1559904167 GRCh37: 3:136323195-136323195
GRCh38: 3:136604353-136604353
26 STAG1 NM_005862.3(STAG1):c.2647A>T (p.Met883Leu) SNV Uncertain significance 982954 GRCh37: 3:136085823-136085823
GRCh38: 3:136366981-136366981
27 STAG1 NM_005862.3(STAG1):c.3104T>C (p.Met1035Thr) SNV Uncertain significance 996953 GRCh37: 3:136068167-136068167
GRCh38: 3:136349325-136349325

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

72
# Symbol AA change Variation ID SNP ID
1 STAG1 p.Gln214Arg VAR_079487 rs155373869
2 STAG1 p.Arg216Gly VAR_079488 rs155373868
3 STAG1 p.His220Arg VAR_079489 rs105751915
4 STAG1 p.Lys333Gln VAR_079490 rs155372863
5 STAG1 p.Leu351Trp VAR_079491 rs155372786
6 STAG1 p.Arg373Gln VAR_079492 rs137633431
7 STAG1 p.His478Pro VAR_079493 rs155372230
8 STAG1 p.Lys979Arg VAR_079494 rs147147911

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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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