MRD34
MCID: MNT238
MIFTS: 22

Mental Retardation, Autosomal Dominant 34 (MRD34)

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 34

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 34:

Name: Mental Retardation, Autosomal Dominant 34 57 72 29 6
Mrd34 57 12 72
Autosomal Dominant Non-Syndromic Intellectual Disability 34 12
Mental Retardation, Autosomal Dominant, Type 34 39
Autosomal Dominant Mental Retardation 34 12

Characteristics:

OMIM®:

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

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


HPO:

31
mental retardation, autosomal dominant 34:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 34

UniProtKB/Swiss-Prot : 72 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 CERT1 (Ceramide Transporter 1). Related phenotypes are intellectual disability and hearing impairment

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.

More information from OMIM: 616351 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 34

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 34

Human phenotypes related to Mental Retardation, Autosomal Dominant 34:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hearing impairment 31 HP:0000365
3 global developmental delay 31 HP:0001263
4 widely spaced teeth 31 HP:0000687
5 smooth philtrum 31 HP:0000319
6 anteverted nares 31 HP:0000463
7 coarse hair 31 HP:0002208
8 stereotypy 31 HP:0000733
9 wide intermamillary distance 31 HP:0006610
10 epicanthus 31 HP:0000286
11 upslanted palpebral fissure 31 HP:0000582
12 synophrys 31 HP:0000664
13 broad-based gait 31 HP:0002136
14 short foot 31 HP:0001773
15 oligohydramnios 31 HP:0001562
16 postnatal microcephaly 31 HP:0005484
17 muscular hypotonia of the trunk 31 HP:0008936
18 cerebral visual impairment 31 HP:0100704
19 2-3 toe syndactyly 31 HP:0004691
20 curly hair 31 HP:0002212
21 drooling 31 HP:0002307
22 bruxism 31 HP:0003763
23 myopathic facies 31 HP:0002058
24 bilateral ptosis 31 HP:0001488
25 bilateral tonic-clonic seizure 31 HP:0002069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
global developmental delay
broad-based gait
cortical vision impairment

Head And Neck Ears:
hearing impairment

Head And Neck Nose:
anteverted nares

Head And Neck Mouth:
drooling

Head And Neck Head:
microcephaly, postnatal

Head And Neck Eyes:
ptosis
epicanthus
synophrys
cortical vision impairment

Head And Neck Face:
smooth philtrum

Skeletal Feet:
2-3 toe syndactyly
small feet

Head And Neck Teeth:
bruxism
widely-spaced teeth

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

Clinical features from OMIM®:

616351 (Updated 05-Apr-2021)

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

Genetic tests related to Mental Retardation, Autosomal Dominant 34:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 34 29 CERT1

Anatomical Context for Mental Retardation, Autosomal Dominant 34

Publications for Mental Retardation, Autosomal Dominant 34

Articles related to Mental Retardation, Autosomal Dominant 34:

# Title Authors PMID Year
1
Large-scale discovery of novel genetic causes of developmental disorders. 57 6
25533962 2015

Variations for Mental Retardation, Autosomal Dominant 34

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CERT1 NM_001130105.1(CERT1):c.271G>T (p.Glu91Ter) SNV Pathogenic 548566 rs1554048616 GRCh37: 5:74807146-74807146
GRCh38: 5:75511321-75511321
2 CERT1 NM_001130105.1(CERT1):c.1719del (p.Ala574fs) Deletion Uncertain significance 592133 rs1561223965 GRCh37: 5:74681809-74681809
GRCh38: 5:75385984-75385984
3 CERT1 NM_001130105.1(CERT1):c.1685T>G (p.Val562Gly) SNV Uncertain significance 634569 rs375406284 GRCh37: 5:74681843-74681843
GRCh38: 5:75386018-75386018
4 CERT1 NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu) SNV Uncertain significance 419654 rs1064794019 GRCh37: 5:74722257-74722257
GRCh38: 5:75426432-75426432
5 CERT1 NM_001379029.1(CERT1):c.-121del Deletion Uncertain significance 996843 GRCh37: 5:74807153-74807153
GRCh38: 5:75511328-75511328
6 CERT1 NM_001130105.1(CERT1):c.733-12dup Duplication Likely benign 801357 rs540751366 GRCh37: 5:74722305-74722306
GRCh38: 5:75426480-75426481

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

72
# Symbol AA change Variation ID SNP ID
1 CERT1 p.Ser132Leu VAR_073721 rs106479401
2 CERT1 p.Gly243Arg VAR_078652

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 EFO
18 ExPASy
19 FMA
20 GARD
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
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
Content
Loading form....