MCID: MNT216
MIFTS: 23

Mental Retardation, Autosomal Recessive 41

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Skin diseases, Gastrointestinal 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 75 29 6 73
Mrt41 57 75
Mental Retardation, Autosomal Recessive, Type 41 40
Macrocephaly-Developmental Delay Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
macrocephaly-developmental delay syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mental retardation, autosomal recessive 41:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 41

UniProtKB/Swiss-Prot : 75 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 frontal bossing

Description from OMIM: 615637

Related Diseases for Mental Retardation, Autosomal Recessive 41

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 Recessive 41

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
retrognathia
prominent chin

Head And Neck Nose:
broad nasal tip

Head And Neck Eyes:
downslanting palpebral fissures
hooded eyelids

Skeletal Skull:
scaphocephaly

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

Neurologic Behavioral Psychiatric Manifestations:
anxiety
stereotyped behaviors
repetitive speech

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
fifth finger clinodactyly

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


Clinical features from OMIM:

615637

Human phenotypes related to Mental Retardation, Autosomal Recessive 41:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 frontal bossing 32 HP:0002007
3 intellectual disability 32 HP:0001249
4 seizures 32 occasional (7.5%) HP:0001250
5 mandibular prognathia 32 HP:0000303
6 global developmental delay 32 HP:0001263
7 stereotypy 32 HP:0000733
8 anxiety 32 HP:0000739
9 clinodactyly of the 5th finger 32 HP:0004209
10 downslanted palpebral fissures 32 HP:0000494
11 broad nasal tip 32 HP:0000455
12 generalized hypotonia 32 HP:0001290
13 scaphocephaly 32 HP:0030799

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

Variations for Mental Retardation, Autosomal Recessive 41

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

6
(show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 KPTN NM_007059.3(KPTN): c.776C> A (p.Ser259Ter) single nucleotide variant Pathogenic rs374298314 GRCh38 Chromosome 19, 47479874: 47479874
2 KPTN NM_007059.3(KPTN): c.776C> A (p.Ser259Ter) single nucleotide variant Pathogenic rs374298314 GRCh37 Chromosome 19, 47983131: 47983131
3 KPTN NM_007059.3(KPTN): c.714_731dup18 (p.Gln246_Asp247insMetTrpSerValLeuGln) duplication Pathogenic rs587777148 GRCh38 Chromosome 19, 47479919: 47479936
4 KPTN NM_007059.3(KPTN): c.714_731dup18 (p.Gln246_Asp247insMetTrpSerValLeuGln) duplication Pathogenic rs587777148 GRCh37 Chromosome 19, 47983176: 47983193
5 KPTN NM_007059.3(KPTN): c.188G> A (p.Arg63Gln) single nucleotide variant Uncertain significance rs142867197 GRCh38 Chromosome 19, 47483973: 47483973
6 KPTN NM_007059.3(KPTN): c.188G> A (p.Arg63Gln) single nucleotide variant Uncertain significance rs142867197 GRCh37 Chromosome 19, 47987230: 47987230
7 KPTN NM_007059.3(KPTN): c.597_598dupTA (p.Ser200Ilefs) duplication Pathogenic rs766372684 GRCh38 Chromosome 19, 47480761: 47480762
8 KPTN NM_007059.3(KPTN): c.597_598dupTA (p.Ser200Ilefs) duplication Pathogenic rs766372684 GRCh37 Chromosome 19, 47984018: 47984018
9 KPTN NM_007059.3(KPTN): c.631G> C (p.Gly211Arg) single nucleotide variant Benign/Likely benign rs182019900 GRCh38 Chromosome 19, 47480376: 47480376
10 KPTN NM_007059.3(KPTN): c.631G> C (p.Gly211Arg) single nucleotide variant Benign/Likely benign rs182019900 GRCh37 Chromosome 19, 47983633: 47983633
11 KPTN NM_007059.3(KPTN): c.1167C> T (p.Gly389=) single nucleotide variant Uncertain significance rs562237338 GRCh37 Chromosome 19, 47979804: 47979804
12 KPTN NM_007059.3(KPTN): c.1167C> T (p.Gly389=) single nucleotide variant Uncertain significance rs562237338 GRCh38 Chromosome 19, 47476547: 47476547
13 KPTN NM_007059.3(KPTN): c.1056C> T (p.His352=) single nucleotide variant Benign rs73940855 GRCh38 Chromosome 19, 47476658: 47476658
14 KPTN NM_007059.3(KPTN): c.1056C> T (p.His352=) single nucleotide variant Benign rs73940855 GRCh37 Chromosome 19, 47979915: 47979915
15 KPTN NM_007059.3(KPTN): c.968G> A (p.Arg323Gln) single nucleotide variant Uncertain significance rs199648809 GRCh38 Chromosome 19, 47476834: 47476834
16 KPTN NM_007059.3(KPTN): c.968G> A (p.Arg323Gln) single nucleotide variant Uncertain significance rs199648809 GRCh37 Chromosome 19, 47980091: 47980091
17 KPTN NM_007059.3(KPTN): c.504G> A (p.Pro168=) single nucleotide variant Benign rs61743291 GRCh38 Chromosome 19, 47480979: 47480979
18 KPTN NM_007059.3(KPTN): c.504G> A (p.Pro168=) single nucleotide variant Benign rs61743291 GRCh37 Chromosome 19, 47984236: 47984236
19 KPTN NM_007059.3(KPTN): c.1245G> A (p.Arg415=) single nucleotide variant Benign rs1046273 GRCh38 Chromosome 19, 47475482: 47475482
20 KPTN NM_007059.3(KPTN): c.1245G> A (p.Arg415=) single nucleotide variant Benign rs1046273 GRCh37 Chromosome 19, 47978739: 47978739
21 KPTN NM_007059.3(KPTN): c.7G> A (p.Gly3Arg) single nucleotide variant Uncertain significance rs549545571 GRCh37 Chromosome 19, 47987411: 47987411
22 KPTN NM_007059.3(KPTN): c.7G> A (p.Gly3Arg) single nucleotide variant Uncertain significance rs549545571 GRCh38 Chromosome 19, 47484154: 47484154
23 KPTN NM_007059.3(KPTN): c.665dup (p.Ser223Glufs) duplication Pathogenic GRCh37 Chromosome 19, 47983599: 47983599
24 KPTN NM_007059.3(KPTN): c.665dup (p.Ser223Glufs) duplication Pathogenic GRCh38 Chromosome 19, 47480342: 47480342
25 KPTN NM_007059.3(KPTN): c.558C> G (p.Pro186=) single nucleotide variant Benign rs145347349 GRCh37 Chromosome 19, 47984058: 47984058
26 KPTN NM_007059.3(KPTN): c.558C> G (p.Pro186=) single nucleotide variant Benign rs145347349 GRCh38 Chromosome 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

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