MCID: MNT282
MIFTS: 22

Mental Retardation, Autosomal Recessive 55

Categories: Genetic diseases, Neuronal diseases, Skin diseases, Fetal diseases, Rare diseases, Mental diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Gastrointestinal diseases

Aliases & Classifications for Mental Retardation, Autosomal Recessive 55

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 55:

Name: Mental Retardation, Autosomal Recessive 55 57 75 6
Mrt55 57 75
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one consanguineous saudi family has been reported (last curated july 2016)


HPO:

32
mental retardation, autosomal recessive 55:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 55

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal recessive 55: 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 Recessive 55, also known as mrt55, is related to hydrolethalus syndrome 1. An important gene associated with Mental Retardation, Autosomal Recessive 55 is PUS3 (Pseudouridylate Synthase 3). Affiliated tissues include skin, and related phenotypes are microcephaly and coarse facial features

Description from OMIM: 617051

Related Diseases for Mental Retardation, Autosomal Recessive 55

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

Diseases related to Mental Retardation, Autosomal Recessive 55 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hydrolethalus syndrome 1 9.0 HYLS1 PUS3

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 55

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
global developmental delay
ventriculomegaly
cerebral atrophy
mental retardation, profound
arachnoid cysts
more
Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly, borderline (-2.1 to -3.3 sd)

Head And Neck Eyes:
strabismus
gray sclerae

Head And Neck Face:
coarse facies

Skin Nails Hair Skin:
mongolian spots


Clinical features from OMIM:

617051

Human phenotypes related to Mental Retardation, Autosomal Recessive 55:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 coarse facial features 32 HP:0000280
3 strabismus 32 HP:0000486
4 global developmental delay 32 HP:0001263
5 generalized hypotonia 32 HP:0001290
6 cerebral atrophy 32 HP:0002059
7 ventriculomegaly 32 HP:0002119
8 intellectual disability, profound 32 HP:0002187
9 arachnoid cyst 32 HP:0100702

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 55

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 55

Genetic Tests for Mental Retardation, Autosomal Recessive 55

Anatomical Context for Mental Retardation, Autosomal Recessive 55

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 55:

41
Skin

Publications for Mental Retardation, Autosomal Recessive 55

Variations for Mental Retardation, Autosomal Recessive 55

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 55:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PUS3 NM_031307.3(PUS3): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs774005569 GRCh38 Chromosome 11, 125893928: 125893928
2 PUS3 NM_031307.3(PUS3): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs774005569 GRCh37 Chromosome 11, 125763823: 125763823

Expression for Mental Retardation, Autosomal Recessive 55

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 55.

Pathways for Mental Retardation, Autosomal Recessive 55

GO Terms for Mental Retardation, Autosomal Recessive 55

Sources for Mental Retardation, Autosomal Recessive 55

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
Content
Loading form....