MCID: MNT238
MIFTS: 22

Mental Retardation, Autosomal Dominant 34

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 34

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 34:

Name: Mental Retardation, Autosomal Dominant 34 57 75 6
Mrd34 57 12 75
Autosomal Dominant Non-Syndromic Intellectual Disability 34 12
Mental Retardation, Autosomal Dominant, Type 34 40
Autosomal Dominant Mental Retardation 34 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotypic features
based on a report of 3 patients


HPO:

32
mental retardation, autosomal dominant 34:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 34

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 34: 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.

MalaCards based summary : Mental Retardation, Autosomal Dominant 34, is also known as mrd34. An important gene associated with Mental Retardation, Autosomal Dominant 34 is COL4A3BP (Collagen Type IV Alpha 3 Binding Protein). Related phenotypes are epicanthus and smooth philtrum

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of COL4A3BP on chromosome 5q13.3.

Description from OMIM: 616351

Related Diseases for Mental Retardation, Autosomal Dominant 34

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 34

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
epicanthus
synophrys
cortical vision impairment

Head And Neck Ears:
hearing impairment

Head And Neck Nose:
anteverted nares

Skeletal Feet:
2-3 toe syndactyly
small feet

Head And Neck Head:
microcephaly, postnatal

Neurologic Central Nervous System:
seizures
global developmental delay
broad-based gait
cortical vision impairment

Head And Neck Face:
smooth philtrum

Head And Neck Mouth:
drooling

Head And Neck Teeth:
bruxism
widely-spaced teeth

Neurologic Behavioral Psychiatric Manifestations:
stereotypic behaviors (in one patient)


Clinical features from OMIM:

616351

Human phenotypes related to Mental Retardation, Autosomal Dominant 34:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 epicanthus 32 HP:0000286
2 smooth philtrum 32 HP:0000319
3 hearing impairment 32 HP:0000365
4 anteverted nares 32 HP:0000463
5 upslanted palpebral fissure 32 HP:0000582
6 synophrys 32 HP:0000664
7 widely spaced teeth 32 HP:0000687
8 stereotypy 32 HP:0000733
9 intellectual disability 32 HP:0001249
10 global developmental delay 32 HP:0001263
11 bilateral ptosis 32 HP:0001488
12 oligohydramnios 32 HP:0001562
13 short foot 32 HP:0001773
14 myopathic facies 32 HP:0002058
15 generalized tonic-clonic seizures 32 HP:0002069
16 broad-based gait 32 HP:0002136
17 coarse hair 32 HP:0002208
18 curly hair 32 HP:0002212
19 drooling 32 HP:0002307
20 bruxism 32 HP:0003763
21 2-3 toe syndactyly 32 HP:0004691
22 postnatal microcephaly 32 HP:0005484
23 wide intermamillary distance 32 HP:0006610
24 muscular hypotonia of the trunk 32 HP:0008936
25 cortical visual impairment 32 HP:0100704

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 34

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 34

Genetic Tests for Mental Retardation, Autosomal Dominant 34

Anatomical Context for Mental Retardation, Autosomal Dominant 34

Publications for Mental Retardation, Autosomal Dominant 34

Variations for Mental Retardation, Autosomal Dominant 34

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 34:

75
# Symbol AA change Variation ID SNP ID
1 COL4A3BP p.Ser132Leu VAR_073721
2 COL4A3BP p.Gly243Arg VAR_078652

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 34:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL4A3BP COL4A3BP, SER132LEU single nucleotide variant Pathogenic

Expression for Mental Retardation, Autosomal Dominant 34

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 34.

Pathways for Mental Retardation, Autosomal Dominant 34

GO Terms for Mental Retardation, Autosomal Dominant 34

Sources for Mental Retardation, Autosomal Dominant 34

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
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44 MeSH
45 MESH via Orphanet
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49 NCI
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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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