MRD35
MCID: MNT239
MIFTS: 31

Mental Retardation, Autosomal Dominant 35 (MRD35)

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 35

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 35:

Name: Mental Retardation, Autosomal Dominant 35 57 72 29 6
Mrd35 57 12 72
Autosomal Dominant Non-Syndromic Intellectual Disability 35 12 15
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome 58
Mental Retardation, Autosomal Dominant, Type 35 39
Autosomal Dominant Mental Retardation 35 12

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
de novo mutation


HPO:

31
mental retardation, autosomal dominant 35:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, Autosomal Dominant 35

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 35: 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 35, also known as mrd35, is related to ppp2r5d-related intellectual disability and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Mental Retardation, Autosomal Dominant 35 is PPP2R5D (Protein Phosphatase 2 Regulatory Subunit B'Delta). Affiliated tissues include eye and heart, and related phenotypes are macrocephaly and global developmental delay

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1.

More information from OMIM: 616355 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 35

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 35 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ppp2r5d-related intellectual disability 11.4
2 alacrima, achalasia, and mental retardation syndrome 9.5 PPP2R5D MEA1

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 35

Human phenotypes related to Mental Retardation, Autosomal Dominant 35:

58 31 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
4 generalized hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001290
5 delayed ability to walk 58 31 hallmark (90%) Very frequent (99-80%) HP:0031936
6 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
7 stereotypy 58 31 frequent (33%) Frequent (79-30%) HP:0000733
8 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
9 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
10 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
11 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
12 abnormal temper tantrums 58 31 frequent (33%) Frequent (79-30%) HP:0025160
13 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
14 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
15 low frustration tolerance 58 31 frequent (33%) Frequent (79-30%) HP:0000744
16 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
17 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
18 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
19 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
20 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
21 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
22 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
23 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
24 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
25 triangular face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000325
26 arachnoid cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0100702
27 abnormal corpus callosum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001273
28 dilation of lateral ventricles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006956
29 cavum septum pellucidum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002389
30 frontal bossing 58 31 very rare (1%) Very rare (<4-1%) HP:0002007
31 high palate 58 31 very rare (1%) Very rare (<4-1%) HP:0000218
32 hypoglycemia 58 31 very rare (1%) Very rare (<4-1%) HP:0001943
33 bicuspid aortic valve 58 31 very rare (1%) Very rare (<4-1%) HP:0001647
34 congenital hip dislocation 58 31 very rare (1%) Very rare (<4-1%) HP:0001374
35 dolichocephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000268
36 facial asymmetry 58 31 very rare (1%) Very rare (<4-1%) HP:0000324
37 thin upper lip vermilion 58 31 very rare (1%) Very rare (<4-1%) HP:0000219
38 long philtrum 58 31 very rare (1%) Very rare (<4-1%) HP:0000343
39 areflexia 58 31 very rare (1%) Very rare (<4-1%) HP:0001284
40 chronic diarrhea 58 31 very rare (1%) Very rare (<4-1%) HP:0002028
41 pyloric stenosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002021
42 wide anterior fontanel 58 31 very rare (1%) Very rare (<4-1%) HP:0000260
43 plagiocephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0001357
44 congenital muscular torticollis 58 31 very rare (1%) Very rare (<4-1%) HP:0005988
45 astigmatism 58 31 very rare (1%) Very rare (<4-1%) HP:0000483
46 hypoplastic fifth toenail 58 31 very rare (1%) Very rare (<4-1%) HP:0011937
47 supernumerary nipple 58 31 very rare (1%) Very rare (<4-1%) HP:0002558
48 submucous cleft hard palate 58 31 very rare (1%) Very rare (<4-1%) HP:0000176
49 impaired mastication 58 31 very rare (1%) Very rare (<4-1%) HP:0005216
50 alternating esotropia 58 31 very rare (1%) Very rare (<4-1%) HP:0001137

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
open mouth
tented lip

Head And Neck Head:
macrocephaly (in some patients)

Head And Neck Face:
hypotonic facies
broad, tall forehead

Neurologic Central Nervous System:
seizures (in some patients)
hydrocephalus (in some patients)
poor or absent speech
delayed psychomotor development, moderate to severe

Head And Neck Eyes:
hypertelorism, mild

Growth Height:
increased height (in some patients)

Clinical features from OMIM®:

616355 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 35

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 35

Genetic Tests for Mental Retardation, Autosomal Dominant 35

Genetic tests related to Mental Retardation, Autosomal Dominant 35:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 35 29 PPP2R5D

Anatomical Context for Mental Retardation, Autosomal Dominant 35

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 35:

40
Eye, Heart

Publications for Mental Retardation, Autosomal Dominant 35

Articles related to Mental Retardation, Autosomal Dominant 35:

# Title Authors PMID Year
1
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. 6 57
25972378 2015
2
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 57 6
26168268 2015
3
Large-scale discovery of novel genetic causes of developmental disorders. 57 6
25533962 2015
4
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015

Variations for Mental Retardation, Autosomal Dominant 35

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 35:

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.758G>C (p.Arg253Pro) SNV Pathogenic 984827 GRCh37: 6:42975704-42975704
GRCh38: 6:43007966-43007966
2 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.253C>T (p.Arg85Ter) SNV Pathogenic 984893 GRCh37: 6:42974348-42974348
GRCh38: 6:43006610-43006610
3 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) SNV Pathogenic 190286 GRCh37: 6:42975003-42975003
GRCh38: 6:43007265-43007265
4 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.602C>G (p.Pro201Arg) SNV Pathogenic 190287 rs876657383 GRCh37: 6:42975013-42975013
GRCh38: 6:43007275-43007275
5 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) SNV Pathogenic 217456 rs863225079 GRCh37: 6:42975009-42975009
GRCh38: 6:43007271-43007271
6 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.619T>A (p.Trp207Arg) SNV Pathogenic 217457 rs869320691 GRCh37: 6:42975030-42975030
GRCh38: 6:43007292-43007292
7 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.157C>T (p.Pro53Ser) SNV Pathogenic 217455 rs757369209 GRCh37: 6:42974252-42974252
GRCh38: 6:43006514-43006514
8 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.752A>C (p.Asp251Ala) SNV Pathogenic 521616 rs1064794719 GRCh37: 6:42975698-42975698
GRCh38: 6:43007960-43007960
9 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys) SNV Pathogenic 217912 rs863225080 GRCh37: 6:42977066-42977066
GRCh38: 6:43009328-43009328
10 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) SNV Pathogenic 420814 rs1064794719 GRCh37: 6:42975698-42975698
GRCh38: 6:43007960-43007960
11 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg) SNV Pathogenic 280435 rs869320691 GRCh37: 6:42975030-42975030
GRCh38: 6:43007292-43007292
12 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro) SNV Pathogenic/Likely pathogenic 982374 GRCh37: 6:42975043-42975043
GRCh38: 6:43007305-43007305
13 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys) SNV Pathogenic/Likely pathogenic 217913 rs863225081 GRCh37: 6:42975000-42975000
GRCh38: 6:43007262-43007262
14 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.590A>G (p.Glu197Gly) SNV Likely pathogenic 984891 GRCh37: 6:42975001-42975001
GRCh38: 6:43007263-43007263
15 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.751G>C (p.Asp251His) SNV Likely pathogenic 984892 GRCh37: 6:42975697-42975697
GRCh38: 6:43007959-43007959
16 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.599_602delinsGGCA (p.Glu200_Pro201delinsGlyHis) Indel Likely pathogenic 984889 GRCh37: 6:42975010-42975013
GRCh38: 6:43007272-43007275
17 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.1419T>G (p.Phe473Leu) SNV Uncertain significance 984890 GRCh37: 6:42978245-42978245
GRCh38: 6:43010507-43010507
18 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.1574C>T (p.Pro525Leu) SNV Uncertain significance 802218 rs1581863343 GRCh37: 6:42978638-42978638
GRCh38: 6:43010900-43010900
19 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) SNV Uncertain significance 429222 rs1131691266 GRCh37: 6:42975704-42975704
GRCh38: 6:43007966-43007966
20 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.1762C>T (p.His588Tyr) SNV Uncertain significance 1028495 GRCh37: 6:42978977-42978977
GRCh38: 6:43011239-43011239
21 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.101A>C (p.Glu34Ala) SNV Uncertain significance 1034257 GRCh37: 6:42957422-42957422
GRCh38: 6:42989684-42989684
22 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.160T>C (p.Ser54Pro) SNV Uncertain significance 1034258 GRCh37: 6:42974255-42974255
GRCh38: 6:43006517-43006517
23 MEA1 , PPP2R5D NM_006245.4(PPP2R5D):c.793A>C (p.Ile265Leu) SNV Likely benign 802217 rs957822115 GRCh37: 6:42975739-42975739
GRCh38: 6:43008001-43008001

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 35:

72
# Symbol AA change Variation ID SNP ID
1 PPP2R5D p.Glu198Lys VAR_073708 rs863225082
2 PPP2R5D p.Pro201Arg VAR_073709 rs876657383
3 PPP2R5D p.Glu200Lys VAR_074491 rs863225079
4 PPP2R5D p.Trp207Arg VAR_074492 rs869320691

Expression for Mental Retardation, Autosomal Dominant 35

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 35.

Pathways for Mental Retardation, Autosomal Dominant 35

GO Terms for Mental Retardation, Autosomal Dominant 35

Sources for Mental Retardation, Autosomal Dominant 35

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....