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MRD29
MCID: MNT222
MIFTS: 27

Mental Retardation, Autosomal Dominant 29 (MRD29)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes
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Aliases & Classifications for Mental Retardation, Autosomal Dominant 29

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MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 29:

Name: Mental Retardation, Autosomal Dominant 29 57 75 29 6 73
Mrd29 57 12 75
Autosomal Dominant Non-Syndromic Intellectual Disability 29 12
Mental Retardation, Autosomal Dominant, Type 29 40
Autosomal Dominant Mental Retardation 29 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable dysmorphic features


HPO:

32
mental retardation, autosomal dominant 29:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Mental diseases Neuronal diseases Eye diseases Bone diseases Cardiovascular diseases Skin diseases Ear diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)


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Summaries for Mental Retardation, Autosomal Dominant 29

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UniProtKB/Swiss-Prot : 75 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. An important gene associated with Mental Retardation, Autosomal Dominant 29 is SETBP1 (SET Binding Protein 1). Affiliated tissues include skin, bone and eye, and related phenotypes are hypertelorism and low-set ears

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.

Description from OMIM: 616078
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Related Diseases for Mental Retardation, Autosomal Dominant 29

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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 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
Autosomal Dominant Mental Retardation 55

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

# Related Disease Score Top Affiliating Genes
1 setbp1 disorder 11.3

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Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 29

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
synophrys
downslanting palpebral fissures

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

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

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

Head And Neck Nose:
full nasal tip

Head And Neck Ears:
low-set ears

Head And Neck Head:
brachycephaly
dolicocephaly

Neurologic Behavioral Psychiatric Manifestations:
attention deficit hyperactivity disorder

Head And Neck Teeth:
crowded teeth


Clinical features from OMIM:

616078

Human phenotypes related to Mental Retardation, Autosomal Dominant 29:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 high palate 32 HP:0000218
4 ptosis 32 HP:0000508
5 intellectual disability 32 HP:0001249
6 seizures 32 occasional (7.5%) HP:0001250
7 narrow palate 32 HP:0000189
8 brachycephaly 32 HP:0000248
9 absent speech 32 HP:0001344
10 attention deficit hyperactivity disorder 32 HP:0007018
11 motor delay 32 HP:0001270
12 dental crowding 32 HP:0000678
13 downslanted palpebral fissures 32 HP:0000494
14 long face 32 HP:0000276
15 thin upper lip vermilion 32 HP:0000219
16 pointed chin 32 HP:0000307
17 synophrys 32 HP:0000664
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Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 29

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

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Genetic Tests for Mental Retardation, Autosomal Dominant 29

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Genetic tests related to Mental Retardation, Autosomal Dominant 29:

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

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MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 29:

41
Skin, Bone, Eye
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Publications for Mental Retardation, Autosomal Dominant 29

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Variations for Mental Retardation, Autosomal Dominant 29

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

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 SETBP1 NM_015559.2(SETBP1): c.2464delA (p.Ile822Tyrfs) deletion Pathogenic rs606231269 GRCh37 Chromosome 18, 42531769: 42531769
2 SETBP1 NM_015559.2(SETBP1): c.2464delA (p.Ile822Tyrfs) deletion Pathogenic rs606231269 GRCh38 Chromosome 18, 44951804: 44951804
3 SETBP1 NM_015559.2(SETBP1): c.1596G> A (p.Trp532Ter) single nucleotide variant Pathogenic rs672601342 GRCh38 Chromosome 18, 44950936: 44950936
4 SETBP1 NM_015559.2(SETBP1): c.1596G> A (p.Trp532Ter) single nucleotide variant Pathogenic rs672601342 GRCh37 Chromosome 18, 42530901: 42530901
5 SETBP1 NM_015559.2(SETBP1): c.3032C> G (p.Ser1011Ter) single nucleotide variant Pathogenic rs606231270 GRCh37 Chromosome 18, 42532337: 42532337
6 SETBP1 NM_015559.2(SETBP1): c.3032C> G (p.Ser1011Ter) single nucleotide variant Pathogenic rs606231270 GRCh38 Chromosome 18, 44952372: 44952372
7 SETBP1 NM_015559.2(SETBP1): c.427delC (p.Arg143Valfs) deletion Pathogenic rs606231271 GRCh37 Chromosome 18, 42281738: 42281738
8 SETBP1 NM_015559.2(SETBP1): c.427delC (p.Arg143Valfs) deletion Pathogenic rs606231271 GRCh38 Chromosome 18, 44701773: 44701773
9 SETBP1 NM_015559.2(SETBP1): c.1873C> T (p.Arg625Ter) single nucleotide variant Pathogenic rs606231272 GRCh38 Chromosome 18, 44951213: 44951213
10 SETBP1 NM_015559.2(SETBP1): c.1873C> T (p.Arg625Ter) single nucleotide variant Pathogenic rs606231272 GRCh37 Chromosome 18, 42531178: 42531178
11 SETBP1 NM_015559.2(SETBP1): c.1876C> T (p.Arg626Ter) single nucleotide variant Pathogenic rs606231273 GRCh37 Chromosome 18, 42531181: 42531181
12 SETBP1 NM_015559.2(SETBP1): c.1876C> T (p.Arg626Ter) single nucleotide variant Pathogenic rs606231273 GRCh38 Chromosome 18, 44951216: 44951216
13 SETBP1 NM_015559.2(SETBP1): c.2016_2017insT (p.Lys673Terfs) insertion Pathogenic rs1057519594 GRCh38 Chromosome 18, 44951356: 44951357
14 SETBP1 NM_015559.2(SETBP1): c.2016_2017insT (p.Lys673Terfs) insertion Pathogenic rs1057519594 GRCh37 Chromosome 18, 42531321: 42531322
15 SETBP1 NM_015559.3(SETBP1): c.665G> C (p.Trp222Ser) single nucleotide variant Uncertain significance rs761385178 GRCh37 Chromosome 18, 42529970: 42529970
16 SETBP1 NM_015559.3(SETBP1): c.665G> C (p.Trp222Ser) single nucleotide variant Uncertain significance rs761385178 GRCh38 Chromosome 18, 44950005: 44950005
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Expression for Mental Retardation, Autosomal Dominant 29

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

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GO Terms for Mental Retardation, Autosomal Dominant 29

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Sources for Mental Retardation, Autosomal Dominant 29

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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