MRD29
MCID: MNT222
MIFTS: 33

Mental Retardation, Autosomal Dominant 29 (MRD29)

Categories: 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 29

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 29:

Name: Mental Retardation, Autosomal Dominant 29 56 73 29 6 71
Mrd29 56 12 73
Autosomal Dominant Non-Syndromic Intellectual Disability 29 12 15
Mental Retardation, Autosomal Dominant, Type 29 39
Autosomal Dominant Mental Retardation 29 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable dysmorphic features


HPO:

31
mental retardation, autosomal dominant 29:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 29

UniProtKB/Swiss-Prot : 73 Mental retardation, autosomal dominant 29: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD29 patients manifest severe intellectual disability, behavioral difficulties, speech and motor delays, and dysmorphic facial features.

MalaCards based summary : Mental Retardation, Autosomal Dominant 29, also known as mrd29, is related to setbp1 disorder and mixed phenotype acute leukemia. An important gene associated with Mental Retardation, Autosomal Dominant 29 is SETBP1 (SET Binding Protein 1). Related phenotypes are seizure and intellectual disability

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SETBP1 on chromosome 18q12.3.

More information from OMIM: 616078 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 29

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 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 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 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 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

Diseases related to Mental Retardation, Autosomal Dominant 29 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 setbp1 disorder 11.5
2 mixed phenotype acute leukemia 10.0 SETBP1 ABL1
3 myelodysplastic/myeloproliferative neoplasm 9.9 SETBP1 ABL1
4 chronic neutrophilic leukemia 9.9 SETBP1 ABL1
5 atypical chronic myeloid leukemia 9.9 SETBP1 ABL1
6 b-lymphoblastic leukemia/lymphoma with hypodiploidy 9.8 PBX1 ABL1
7 b-cell adult acute lymphocytic leukemia 9.8 PBX1 ABL1
8 adult acute lymphocytic leukemia 9.8 PBX1 ABL1
9 b-lymphoblastic leukemia/lymphoma with iamp21 9.8 PBX1 ABL1
10 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 9.8 PBX1 ABL1
11 chronic leukemia 9.7 SETBP1 ABL1
12 leukemia, acute lymphoblastic 3 9.7 PBX1 ABL1
13 childhood acute lymphocytic leukemia 9.6 PBX1 ABL1
14 childhood leukemia 9.4 PBX1 ABL1

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 29:



Diseases related to Mental Retardation, Autosomal Dominant 29

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 29

Human phenotypes related to Mental Retardation, Autosomal Dominant 29:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 HP:0001249
3 narrow palate 31 HP:0000189
4 hypertelorism 31 HP:0000316
5 brachycephaly 31 HP:0000248
6 absent speech 31 HP:0001344
7 attention deficit hyperactivity disorder 31 HP:0007018
8 high palate 31 HP:0000218
9 low-set ears 31 HP:0000369
10 ptosis 31 HP:0000508
11 motor delay 31 HP:0001270
12 dental crowding 31 HP:0000678
13 downslanted palpebral fissures 31 HP:0000494
14 thin upper lip vermilion 31 HP:0000219
15 long face 31 HP:0000276
16 pointed chin 31 HP:0000307
17 synophrys 31 HP:0000664

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
narrow palate
high palate
thin upper lip

Head And Neck Head:
brachycephaly
dolicocephaly

Neurologic Behavioral Psychiatric Manifestations:
attention deficit hyperactivity disorder

Head And Neck Face:
long face
pointed chin
dysmorphic facies, variable

Head And Neck Nose:
full nasal tip

Head And Neck Eyes:
hypertelorism
ptosis
synophrys
downslanting palpebral fissures

Neurologic Central Nervous System:
absent speech
delayed motor development
seizures (uncommon)
delayed speech
mental retardation, mild to moderate (iq 30-76)

Head And Neck Ears:
low-set ears

Head And Neck Teeth:
crowded teeth

Clinical features from OMIM:

616078

GenomeRNAi Phenotypes related to Mental Retardation, Autosomal Dominant 29 according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-10 9.92 IGLL1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.92 IGLL1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.92 SETBP1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.92 ABL1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.92 ABL1 SETBP1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.92 SETBP1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.92 IGLL1 SETBP1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.92 SETBP1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.92 SETBP1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.92 ABL1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.92 ABL1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.92 ABL1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-38 9.92 IGLL1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.92 ABL1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.92 ABL1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.92 SETBP1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.92 SETBP1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.92 ABL1

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 29

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 29

Genetic Tests for Mental Retardation, Autosomal Dominant 29

Genetic tests related to Mental Retardation, Autosomal Dominant 29:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 29 29 SETBP1

Anatomical Context for Mental Retardation, Autosomal Dominant 29

Publications for Mental Retardation, Autosomal Dominant 29

Articles related to Mental Retardation, Autosomal Dominant 29:

# Title Authors PMID Year
1
Refining analyses of copy number variation identifies specific genes associated with developmental delay. 6 56
25217958 2014
2
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 56
23020937 2012
3
372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment. 56
22333924 2012
4
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. 56
21037274 2011
5
The establishment and evaluation of a new model for the prediction of Children B-ALL based on TARGET: A SQUIRE-compliant study. 61
32384487 2020

Variations for Mental Retardation, Autosomal Dominant 29

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 29:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SETBP1 NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)SNV Pathogenic 1032 rs267607042 18:42531907-42531907 18:44951942-44951942
2 SETBP1 NM_015559.3(SETBP1):c.2464del (p.Ile822fs)deletion Pathogenic 157555 rs606231269 18:42531769-42531769 18:44951803-44951803
3 SETBP1 NM_015559.3(SETBP1):c.1596G>A (p.Trp532Ter)SNV Pathogenic 157556 rs672601342 18:42530901-42530901 18:44950936-44950936
4 SETBP1 NM_015559.3(SETBP1):c.3032C>G (p.Ser1011Ter)SNV Pathogenic 157557 rs606231270 18:42532337-42532337 18:44952372-44952372
5 SETBP1 NM_015559.3(SETBP1):c.427del (p.Arg143fs)deletion Pathogenic 157558 rs606231271 18:42281738-42281738 18:44701771-44701771
6 SETBP1 NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter)SNV Pathogenic 157559 rs606231272 18:42531178-42531178 18:44951213-44951213
7 SETBP1 NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)SNV Pathogenic 157560 rs606231273 18:42531181-42531181 18:44951216-44951216
8 SETBP1 NM_015559.3(SETBP1):c.2016_2017insT (p.Lys673Ter)insertion Pathogenic 375633 rs1057519594 18:42531321-42531322 18:44951356-44951357
9 SETBP1 NM_015559.3(SETBP1):c.2425C>T (p.Gln809Ter)SNV Pathogenic 807682 18:42531730-42531730 18:44951765-44951765
10 SETBP1 NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)SNV Conflicting interpretations of pathogenicity 1031 rs267607038 18:42531917-42531917 18:44951952-44951952
11 SETBP1 NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser)SNV Uncertain significance 548526 rs761385178 18:42529970-42529970 18:44950005-44950005
12 SETBP1 NM_015559.3(SETBP1):c.3055C>T (p.Arg1019Cys)SNV Uncertain significance 638458 18:42532360-42532360 18:44952395-44952395

Expression for Mental Retardation, Autosomal Dominant 29

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 29.

Pathways for Mental Retardation, Autosomal Dominant 29

GO Terms for Mental Retardation, Autosomal Dominant 29

Biological processes related to Mental Retardation, Autosomal Dominant 29 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 B cell receptor signaling pathway GO:0050853 9.26 IGLL1 ABL1
2 thymus development GO:0048538 9.16 PBX1 ABL1
3 endothelial cell migration GO:0043542 8.96 PTP4A3 ABL1
4 spleen development GO:0048536 8.62 PBX1 ABL1

Sources for Mental Retardation, Autosomal Dominant 29

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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