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MRT19
MCID: MNT182
MIFTS: 21

Mental Retardation, Autosomal Recessive 19 (MRT19)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Tissues Related diseases Symptoms & Phenotypes
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Aliases & Classifications for Mental Retardation, Autosomal Recessive 19

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MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 19:

Name: Mental Retardation, Autosomal Recessive 19 57 13 73
Mrt19 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of 1 consanguineous syrian family (last curated november 2011)


HPO:

32
mental retardation, autosomal recessive 19:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Mental diseases Neuronal diseases Eye diseases Bone diseases Cardiovascular diseases Skin diseases Ear diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 614343
MedGen 42 C3280541
SNOMED-CT via HPO 69 258211005 229844004 61152003
UMLS 73 C3280541
Sources

Summaries for Mental Retardation, Autosomal Recessive 19

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MalaCards based summary : Mental Retardation, Autosomal Recessive 19, also known as mrt19, is related to perrault syndrome 1 and autosomal recessive non-syndromic intellectual disability. An important gene associated with Mental Retardation, Autosomal Recessive 19 is MRT19 (Mental Retardation, Non-Syndromic, Autosomal Recessive, 19). Affiliated tissues include skin, bone and eye, and related phenotypes are abnormality of the foot and motor delay

Description from OMIM: 614343
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Related Diseases for Mental Retardation, Autosomal Recessive 19

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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 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
Autosomal Dominant Mental Retardation 55

Diseases related to Mental Retardation, Autosomal Recessive 19 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 1 11.1
2 autosomal recessive non-syndromic intellectual disability 11.1

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Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 19

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Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability, moderate
motor delay, mild
no speech delay

Skeletal:
arthrogryposis of several small joints

Neurologic Behavioral Psychiatric Manifestations:
cheerful disposition
amicable disposition

Skeletal Feet:
foot deformity (in some patients)


Clinical features from OMIM:

614343

Human phenotypes related to Mental Retardation, Autosomal Recessive 19:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the foot 32 occasional (7.5%) HP:0001760
2 motor delay 32 HP:0001270
3 intellectual disability, moderate 32 HP:0002342
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Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 19

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Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 19

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Genetic Tests for Mental Retardation, Autosomal Recessive 19

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Anatomical Context for Mental Retardation, Autosomal Recessive 19

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MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 19:

41
Skin, Bone, Eye
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Publications for Mental Retardation, Autosomal Recessive 19

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Variations for Mental Retardation, Autosomal Recessive 19

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Expression for Mental Retardation, Autosomal Recessive 19

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Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 19.
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Pathways for Mental Retardation, Autosomal Recessive 19

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GO Terms for Mental Retardation, Autosomal Recessive 19

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Sources for Mental Retardation, Autosomal Recessive 19

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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