MRD56
MCID: MNT332
MIFTS: 35

Mental Retardation, Autosomal Dominant 56 (MRD56)

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 56

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 56:

Name: Mental Retardation, Autosomal Dominant 56 57 72 6
Autosomal Dominant Mental Retardation 56 12 15
Mrd56 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
de novo mutation
highly variable severity
onset in infancy or first years of life


HPO:

31
mental retardation, autosomal dominant 56:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 56

Disease Ontology : 12 A syndromic intellectual disability characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has material basis in heterozygous mutation in the CLTC gene on chromosome 17q23.

MalaCards based summary : Mental Retardation, Autosomal Dominant 56, also known as autosomal dominant mental retardation 56, is related to cataract 8, multiple types and parkinson disease, late-onset. An important gene associated with Mental Retardation, Autosomal Dominant 56 is CLTC (Clathrin Heavy Chain), and among its related pathways/superpathways are Vesicle-mediated transport and Delta508-CFTR traffic / ER-to-Golgi in CF. Affiliated tissues include brain, and related phenotypes are seizure and intellectual disability

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 56: 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.

More information from OMIM: 617854 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 56

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

Diseases related to Mental Retardation, Autosomal Dominant 56 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cataract 8, multiple types 9.2 HSPA8 HIP1R DNAJC6 CLTC
2 parkinson disease, late-onset 9.0 HTT HSPA8 HIP1R DNAJC6

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 56

Human phenotypes related to Mental Retardation, Autosomal Dominant 56:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 seizure 31 very rare (1%) HP:0001250
2 intellectual disability 31 HP:0001249
3 spasticity 31 HP:0001257
4 ataxia 31 HP:0001251
5 high palate 31 HP:0000218
6 global developmental delay 31 HP:0001263
7 attention deficit hyperactivity disorder 31 HP:0007018
8 open mouth 31 HP:0000194
9 upslanted palpebral fissure 31 HP:0000582
10 thin upper lip vermilion 31 HP:0000219
11 long philtrum 31 HP:0000343
12 protruding ear 31 HP:0000411
13 postnatal microcephaly 31 HP:0005484
14 generalized hypotonia 31 HP:0001290
15 impulsivity 31 HP:0100710
16 paraparesis 31 HP:0002385

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
spasticity
ataxia
global developmental delay
paraparesis
more
Head And Neck Face:
long philtrum
dysmorphic features, nonspecific, variable (in some patients)

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
upslanting palpebral fissures

Head And Neck Mouth:
open mouth
thin upper lip
high-arched palate
oral apraxia

Neurologic Behavioral Psychiatric Manifestations:
impulsivity
attention deficit

Head And Neck Ears:
prominent ears

Head And Neck Head:
microcephaly, acquired

Clinical features from OMIM®:

617854 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 56

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 56

Genetic Tests for Mental Retardation, Autosomal Dominant 56

Anatomical Context for Mental Retardation, Autosomal Dominant 56

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 56:

40
Brain

Publications for Mental Retardation, Autosomal Dominant 56

Articles related to Mental Retardation, Autosomal Dominant 56:

# Title Authors PMID Year
1
Tatton-Brown-Rahman syndrome: Six individuals with novel features. 6 57
31961069 2020
2
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 57 6
29100083 2017
3
CLTC as a clinically novel gene associated with multiple malformations and developmental delay. 6 57
26822784 2016

Variations for Mental Retardation, Autosomal Dominant 56

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 56:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLTC NM_004859.4(CLTC):c.4663C>T (p.Gln1555Ter) SNV Pathogenic 488420 rs1555607682 GRCh37: 17:57763005-57763005
GRCh38: 17:59685644-59685644
2 CLTC NM_004859.4(CLTC):c.977_980del (p.Ser326fs) Deletion Pathogenic 488417 rs1555604778 GRCh37: 17:57737757-57737760
GRCh38: 17:59660396-59660399
3 CLTC NM_004859.4(CLTC):c.4575dup (p.Glu1526fs) Duplication Pathogenic 488416 rs1555607621 GRCh37: 17:57762556-57762557
GRCh38: 17:59685195-59685196
4 CLTC NM_004859.4(CLTC):c.3140T>C (p.Leu1047Pro) SNV Pathogenic 488419 rs1555607159 GRCh37: 17:57758730-57758730
GRCh38: 17:59681369-59681369
5 CLTC NM_004859.4(CLTC):c.2827_2828del (p.Leu943fs) Deletion Pathogenic 973763 GRCh37: 17:57756787-57756788
GRCh38: 17:59679426-59679427
6 CLTC NM_004859.4(CLTC):c.187C>T (p.Arg63Ter) SNV Pathogenic 816974 rs1598211790 GRCh37: 17:57721781-57721781
GRCh38: 17:59644420-59644420
7 CLTC NM_004859.4(CLTC):c.4829_4830insAATGACTCTGT (p.Asp1611fs) Insertion Pathogenic 997549 GRCh37: 17:57767996-57767997
GRCh38: 17:59690635-59690636
8 CLTC NM_004859.4(CLTC):c.2325_2327del (p.Ile776del) Deletion Pathogenic 808303 rs1598233581 GRCh37: 17:57751038-57751040
GRCh38: 17:59673677-59673679
9 CLTC NM_004859.4(CLTC):c.2733_2734GA[4] (p.Asp913fs) Microsatellite Pathogenic 208688 rs797044884 GRCh37: 17:57754484-57754485
GRCh38: 17:59677123-59677124
10 CLTC NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu) SNV Pathogenic 488418 rs1555606635 GRCh37: 17:57754422-57754422
GRCh38: 17:59677061-59677061
11 CLTC NM_004859.4(CLTC):c.1873_1874del (p.Arg625fs) Deletion Pathogenic 984653 GRCh37: 17:57743930-57743931
GRCh38: 17:59666569-59666570
12 CLTC NM_004859.4(CLTC):c.4602C>G (p.Tyr1534Ter) SNV Pathogenic 1029302 GRCh37: 17:57762584-57762584
GRCh38: 17:59685223-59685223
13 CLTC NM_004859.4(CLTC):c.3611del (p.Arg1204fs) Deletion Likely pathogenic 988734 GRCh37: 17:57760000-57760000
GRCh38: 17:59682639-59682639
14 overlap with 2 genes Deletion Likely pathogenic 977742 GRCh37:
GRCh38: 17:59679324-59702065
15 CLTC NC_000017.11:g.59664787del Deletion Likely pathogenic 811442 rs1598226304 GRCh37: 17:57742147-57742147
GRCh38: 17:59664786-59664786
16 CLTC NM_004859.4(CLTC):c.1592A>T (p.Gln531Leu) SNV Uncertain significance 932132 GRCh37: 17:57742218-57742218
GRCh38: 17:59664857-59664857
17 CLTC NM_004859.4(CLTC):c.1180A>G (p.Thr394Ala) SNV Uncertain significance 1029301 GRCh37: 17:57738816-57738816
GRCh38: 17:59661455-59661455
18 MMP20 NM_004771.4(MMP20):c.1139G>A (p.Arg380Gln) SNV Uncertain significance 560224 rs767478911 GRCh37: 11:102464278-102464278
GRCh38: 11:102593547-102593547
19 CLTC NM_004859.4(CLTC):c.4386_4387TG[1] (p.Val1463fs) Microsatellite Uncertain significance 560225 rs1567971357 GRCh37: 17:57761298-57761299
GRCh38: 17:59683937-59683938
20 CLTC NM_004859.4(CLTC):c.1195C>T (p.Arg399Cys) SNV Uncertain significance 689651 rs954500638 GRCh37: 17:57738831-57738831
GRCh38: 17:59661470-59661470
21 CLTC NM_004859.4(CLTC):c.3386T>G (p.Ile1129Ser) SNV Uncertain significance 803445 rs1443421262 GRCh37: 17:57759144-57759144
GRCh38: 17:59681783-59681783

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 56:

72
# Symbol AA change Variation ID SNP ID
1 CLTC p.Pro890Leu VAR_080722 rs155560663

Expression for Mental Retardation, Autosomal Dominant 56

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 56.

Pathways for Mental Retardation, Autosomal Dominant 56

Pathways related to Mental Retardation, Autosomal Dominant 56 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 HSPA8 HIP1R DNAJC6 CLTC ARRB2 AP2B1
2
Show member pathways
12 HIP1R CLTC AP2B1
3
Show member pathways
11.94 HSPA8 HIP1R DNAJC6 CLTC
4 11.76 HSPA8 DNAJC6 CLTC ARRB2 AP2B1
5
Show member pathways
11.75 CLTC ARRB2 AP2B1
6
Show member pathways
11.59 HSPA8 CLTC AP2B1
7
Show member pathways
11.47 HSPA8 HIP1R DNAJC6 CLTC ARRB2 AP2B1
8
Show member pathways
11.37 CLTC AP2B1
9 11.31 CLTC AP2B1
10 11.16 CLTC AP2B1

GO Terms for Mental Retardation, Autosomal Dominant 56

Cellular components related to Mental Retardation, Autosomal Dominant 56 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.02 HTT HSPA8 HIP1R DNAJC6 CLTC ARRB2
2 cytoplasmic vesicle GO:0031410 9.73 HTT HIP1R CLTC ARRB2
3 postsynaptic density GO:0014069 9.63 HIP1R DNAJC6 ARRB2
4 melanosome GO:0042470 9.52 HSPA8 CLTC
5 autophagosome GO:0005776 9.51 HTT HSPA8
6 clathrin-coated vesicle GO:0030136 9.49 HIP1R CLTC
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.4 CLTC AP2B1
8 clathrin-coated endocytic vesicle GO:0045334 9.37 CLTC AP2B1
9 postsynaptic cytosol GO:0099524 9.32 HTT HSPA8
10 endolysosome membrane GO:0036020 9.26 CLTC AP2B1
11 presynaptic cytosol GO:0099523 9.16 HTT HSPA8
12 clathrin coat GO:0030118 8.96 CLTC AP2B1
13 clathrin-coated pit GO:0005905 8.92 HIP1R CLTC ARRB2 AP2B1

Biological processes related to Mental Retardation, Autosomal Dominant 56 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.65 HSPA8 CLTC AP2B1
2 endocytosis GO:0006897 9.63 HIP1R ARRB2 AP2B1
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.51 CLTC AP2B1
4 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.5 CLTC ARRB2 AP2B1
5 receptor internalization GO:0031623 9.49 CLTC ARRB2
6 low-density lipoprotein particle clearance GO:0034383 9.43 CLTC AP2B1
7 regulation of clathrin-dependent endocytosis GO:2000369 9.4 HIP1R DNAJC6
8 low-density lipoprotein particle receptor catabolic process GO:0032802 9.37 CLTC AP2B1
9 clathrin-dependent endocytosis GO:0072583 9.33 DNAJC6 CLTC AP2B1
10 clathrin coat disassembly GO:0072318 9.26 HSPA8 DNAJC6
11 clathrin coat assembly GO:0048268 9.13 HIP1R CLTC AP2B1
12 membrane organization GO:0061024 9.1 HSPA8 HIP1R DNAJC6 CLTC ARRB2 AP2B1

Molecular functions related to Mental Retardation, Autosomal Dominant 56 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heat shock protein binding GO:0031072 9.32 HTT HSPA8
2 G protein-coupled receptor binding GO:0001664 9.26 HSPA8 ARRB2
3 clathrin adaptor activity GO:0035615 9.16 HIP1R AP2B1
4 clathrin light chain binding GO:0032051 8.96 HIP1R CLTC
5 clathrin binding GO:0030276 8.8 HIP1R DNAJC6 AP2B1

Sources for Mental Retardation, Autosomal Dominant 56

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
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