MRT41
MCID: MNT216
MIFTS: 26

Mental Retardation, Autosomal Recessive 41 (MRT41)

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 Recessive 41

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 41:

Name: Mental Retardation, Autosomal Recessive 41 57 72 29 6 70
Mrt41 57 72
Mental Retardation, Autosomal Recessive, Type 41 39
Macrocephaly-Developmental Delay Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
macrocephaly-developmental delay syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

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

Miscellaneous:
onset at birth
reported in the ohio amish anabaptist community
other populations may be affected


HPO:

31
mental retardation, autosomal recessive 41:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, Autosomal Recessive 41

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 41: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT41 most consistent features are global developmental delay, macrocephaly with frontal bossing, high levels of anxiety, and some features suggestive of a pervasive developmental disorder. Less common features include fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

MalaCards based summary : Mental Retardation, Autosomal Recessive 41, is also known as mrt41. An important gene associated with Mental Retardation, Autosomal Recessive 41 is KPTN (Kaptin, Actin Binding Protein). Related phenotypes are macrocephaly and intellectual disability

More information from OMIM: 615637 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 41

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 Recessive 41

Human phenotypes related to Mental Retardation, Autosomal Recessive 41:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
4 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
5 stereotypy 58 31 frequent (33%) Frequent (79-30%) HP:0000733
6 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
7 delayed ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0031936
8 abnormal speech discrimination 58 31 frequent (33%) Frequent (79-30%) HP:0001963
9 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
10 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
11 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
12 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
13 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
14 palpebral edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0100540
15 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
16 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
17 recurrent pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006532
18 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
19 microretrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000308
20 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
21 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
22 narrow palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0045025
23 eeg with generalized slow activity 58 31 occasional (7.5%) Occasional (29-5%) HP:0010845
24 scaphocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0030799
25 seizure 31 occasional (7.5%) HP:0001250
26 hypotonia 31 occasional (7.5%) HP:0001252
27 seizures 58 Occasional (29-5%)
28 muscular hypotonia 58 Occasional (29-5%)
29 global developmental delay 31 HP:0001263
30 retrognathia 31 HP:0000278
31 broad nasal tip 31 HP:0000455
32 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
frontal bossing
retrognathia
prominent chin

Head And Neck Nose:
broad nasal tip

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
fifth finger clinodactyly

Head And Neck Head:
macrocephaly (+3-5 sd)

Neurologic Behavioral Psychiatric Manifestations:
anxiety
stereotyped behaviors
repetitive speech

Skeletal Skull:
scaphocephaly

Head And Neck Eyes:
downslanting palpebral fissures
hooded eyelids

Neurologic Central Nervous System:
seizures (in some patients)
delayed psychomotor development
mental retardation, mild to severe
speech deficits

Clinical features from OMIM®:

615637 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 41

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 41

Genetic Tests for Mental Retardation, Autosomal Recessive 41

Genetic tests related to Mental Retardation, Autosomal Recessive 41:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 41 29 KPTN

Anatomical Context for Mental Retardation, Autosomal Recessive 41

Publications for Mental Retardation, Autosomal Recessive 41

Articles related to Mental Retardation, Autosomal Recessive 41:

# Title Authors PMID Year
1
Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome. 6 57
25847626 2015
2
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. 57 6
24239382 2014
3
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020

Variations for Mental Retardation, Autosomal Recessive 41

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 41:

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KPTN NM_007059.4(KPTN):c.665dup (p.Ser223fs) Duplication Pathogenic 504486 rs1295123083 GRCh37: 19:47983598-47983599
GRCh38: 19:47480341-47480342
2 KPTN NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup) Duplication Pathogenic 100680 rs587777148 GRCh37: 19:47983175-47983176
GRCh38: 19:47479918-47479919
3 KPTN NM_007059.4(KPTN):c.394+1G>A SNV Pathogenic 499654 rs373139784 GRCh37: 19:47986551-47986551
GRCh38: 19:47483294-47483294
4 KPTN NM_007059.4(KPTN):c.776C>A (p.Ser259Ter) SNV Pathogenic 100679 rs374298314 GRCh37: 19:47983131-47983131
GRCh38: 19:47479874-47479874
5 KPTN NM_007059.4(KPTN):c.597_598dup (p.Ser200fs) Duplication Pathogenic 279826 rs766372684 GRCh37: 19:47984017-47984018
GRCh38: 19:47480760-47480761
6 KPTN NM_007059.4(KPTN):c.754C>T (p.Arg252Ter) SNV Likely pathogenic 1030189 GRCh37: 19:47983153-47983153
GRCh38: 19:47479896-47479896
7 KPTN NM_007059.4(KPTN):c.428C>T (p.Pro143Leu) SNV Conflicting interpretations of pathogenicity 803569 rs372955218 GRCh37: 19:47986439-47986439
GRCh38: 19:47483182-47483182
8 KPTN NM_007059.4(KPTN):c.1234G>A (p.Val412Met) SNV Uncertain significance 1030188 GRCh37: 19:47978750-47978750
GRCh38: 19:47475493-47475493
9 KPTN NM_007059.4(KPTN):c.227-3C>T SNV Uncertain significance 955543 GRCh37: 19:47986844-47986844
GRCh38: 19:47483587-47483587
10 KPTN NM_007059.4(KPTN):c.460G>A (p.Gly154Arg) SNV Uncertain significance 435680 rs377316863 GRCh37: 19:47984280-47984280
GRCh38: 19:47481023-47481023
11 KPTN NM_007059.4(KPTN):c.188G>A (p.Arg63Gln) SNV Uncertain significance 252672 rs142867197 GRCh37: 19:47987230-47987230
GRCh38: 19:47483973-47483973
12 KPTN NM_007059.4(KPTN):c.1167C>T (p.Gly389=) SNV Uncertain significance 444477 rs562237338 GRCh37: 19:47979804-47979804
GRCh38: 19:47476547-47476547
13 KPTN NM_007059.4(KPTN):c.709+6G>A SNV Uncertain significance 836803 GRCh37: 19:47983549-47983549
GRCh38: 19:47480292-47480292
14 KPTN NM_007059.4(KPTN):c.1292C>A (p.Ala431Asp) SNV Uncertain significance 1018762 GRCh37: 19:47978692-47978692
GRCh38: 19:47475435-47475435
15 KPTN NM_007059.4(KPTN):c.1250G>A (p.Arg417His) SNV Uncertain significance 582228 rs372235519 GRCh37: 19:47978734-47978734
GRCh38: 19:47475477-47475477
16 KPTN NM_007059.4(KPTN):c.1225C>T (p.Arg409Ter) SNV Uncertain significance 620486 rs761616995 GRCh37: 19:47978759-47978759
GRCh38: 19:47475502-47475502
17 KPTN NM_007059.4(KPTN):c.102C>T (p.Gly34=) SNV Uncertain significance 935798 GRCh37: 19:47987316-47987316
GRCh38: 19:47484059-47484059
18 KPTN NM_007059.4(KPTN):c.229G>T (p.Asp77Tyr) SNV Uncertain significance 943726 GRCh37: 19:47986839-47986839
GRCh38: 19:47483582-47483582
19 KPTN NM_007059.4(KPTN):c.423C>A (p.Phe141Leu) SNV Uncertain significance 953682 GRCh37: 19:47986444-47986444
GRCh38: 19:47483187-47483187
20 KPTN NM_007059.4(KPTN):c.7G>A (p.Gly3Arg) SNV Uncertain significance 499656 rs549545571 GRCh37: 19:47987411-47987411
GRCh38: 19:47484154-47484154
21 KPTN NM_007059.4(KPTN):c.949G>A (p.Asp317Asn) SNV Uncertain significance 945175 GRCh37: 19:47980110-47980110
GRCh38: 19:47476853-47476853
22 KPTN NM_007059.4(KPTN):c.152T>A (p.Leu51His) SNV Uncertain significance 951626 GRCh37: 19:47987266-47987266
GRCh38: 19:47484009-47484009
23 KPTN NM_007059.4(KPTN):c.786G>A (p.Lys262=) SNV Uncertain significance 581046 rs371354579 GRCh37: 19:47983121-47983121
GRCh38: 19:47479864-47479864
24 KPTN NM_007059.4(KPTN):c.968G>A (p.Arg323Gln) SNV Uncertain significance 474858 rs199648809 GRCh37: 19:47980091-47980091
GRCh38: 19:47476834-47476834
25 KPTN NM_007059.4(KPTN):c.1000G>A (p.Glu334Lys) SNV Uncertain significance 846171 GRCh37: 19:47979971-47979971
GRCh38: 19:47476714-47476714
26 KPTN NM_007059.4(KPTN):c.1021C>T (p.Arg341Trp) SNV Uncertain significance 635753 rs755446490 GRCh37: 19:47979950-47979950
GRCh38: 19:47476693-47476693
27 KPTN NM_007059.4(KPTN):c.423C>G (p.Phe141Leu) SNV Uncertain significance 638333 rs927688047 GRCh37: 19:47986444-47986444
GRCh38: 19:47483187-47483187
28 KPTN NM_007059.4(KPTN):c.511C>A (p.His171Asn) SNV Uncertain significance 1034347 GRCh37: 19:47984229-47984229
GRCh38: 19:47480972-47480972
29 KPTN NM_007059.4(KPTN):c.779C>A (p.Ala260Asp) SNV Uncertain significance 1034348 GRCh37: 19:47983128-47983128
GRCh38: 19:47479871-47479871
30 KPTN NM_007059.4(KPTN):c.447G>A (p.Ala149=) SNV Likely benign 789496 rs138039511 GRCh37: 19:47986420-47986420
GRCh38: 19:47483163-47483163
31 KPTN NM_007059.4(KPTN):c.1305C>T (p.Ala435=) SNV Likely benign 715187 rs759041364 GRCh37: 19:47978679-47978679
GRCh38: 19:47475422-47475422
32 KPTN NM_007059.4(KPTN):c.227-6T>C SNV Likely benign 764985 rs755333130 GRCh37: 19:47986847-47986847
GRCh38: 19:47483590-47483590
33 KPTN NM_007059.4(KPTN):c.761T>C (p.Ile254Thr) SNV Likely benign 435676 rs200513352 GRCh37: 19:47983146-47983146
GRCh38: 19:47479889-47479889
34 KPTN NM_007059.4(KPTN):c.1035G>A (p.Ser345=) SNV Likely benign 435674 rs201351395 GRCh37: 19:47979936-47979936
GRCh38: 19:47476679-47476679
35 KPTN NM_007059.4(KPTN):c.631G>C (p.Gly211Arg) SNV Benign 435678 rs182019900 GRCh37: 19:47983633-47983633
GRCh38: 19:47480376-47480376
36 KPTN NM_007059.4(KPTN):c.600-6C>T SNV Benign 772059 rs114452119 GRCh37: 19:47983670-47983670
GRCh38: 19:47480413-47480413
37 KPTN NM_007059.4(KPTN):c.452T>C (p.Val151Ala) SNV Benign 750754 rs201572880 GRCh37: 19:47984288-47984288
GRCh38: 19:47481031-47481031
38 KPTN NM_007059.4(KPTN):c.733C>G (p.Leu245Val) SNV Benign 714401 rs201474471 GRCh37: 19:47983174-47983174
GRCh38: 19:47479917-47479917
39 KPTN NM_007059.4(KPTN):c.1245G>A (p.Arg415=) SNV Benign 474856 rs1046273 GRCh37: 19:47978739-47978739
GRCh38: 19:47475482-47475482
40 KPTN NM_007059.4(KPTN):c.504G>A (p.Pro168=) SNV Benign 474857 rs61743291 GRCh37: 19:47984236-47984236
GRCh38: 19:47480979-47480979
41 KPTN NM_007059.4(KPTN):c.1056C>T (p.His352=) SNV Benign 474855 rs73940855 GRCh37: 19:47979915-47979915
GRCh38: 19:47476658-47476658
42 KPTN NM_007059.4(KPTN):c.558C>G (p.Pro186=) SNV Benign 541698 rs145347349 GRCh37: 19:47984058-47984058
GRCh38: 19:47480801-47480801

Expression for Mental Retardation, Autosomal Recessive 41

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 41.

Pathways for Mental Retardation, Autosomal Recessive 41

GO Terms for Mental Retardation, Autosomal Recessive 41

Sources for Mental Retardation, Autosomal Recessive 41

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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