PRS
MCID: PRT055
MIFTS: 32

Prieto X-Linked Mental Retardation Syndrome (PRS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Prieto X-Linked Mental Retardation Syndrome

MalaCards integrated aliases for Prieto X-Linked Mental Retardation Syndrome:

Name: Prieto X-Linked Mental Retardation Syndrome 58 74
Prieto Syndrome 58 12 54 13
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome 12 54 60
Prieto-Badia-Mulas Syndrome 12 54 60
Mental Retardation, X-Linked, Syndromic 2 58 54
Mrxs2 58 54
Prs 58 54
Mental Retardation, X-Linked, with Dysmorphism and Cerebral Atrophy 58
Mental Retardation, X-Linked, Syndromic 2; Mrxs2 58

Characteristics:

Orphanet epidemiological data:

60
x-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
x-linked recessive


HPO:

33
prieto x-linked mental retardation syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Prieto X-Linked Mental Retardation Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2958Disease definitionAn X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.EpidemiologyIt has been described in eight males from multiple generations of one family.EtiologyThe locus for the causative gene for this syndrome has been localised to the region between p11.22 and p21.1 on the X chromosome.Visit the Orphanet disease page for more resources.

MalaCards based summary : Prieto X-Linked Mental Retardation Syndrome, also known as prieto syndrome, is related to pr interval, variation in and atrial tachyarrhythmia with short pr interval. An important gene associated with Prieto X-Linked Mental Retardation Syndrome is PRS (Prieto X-Linked Mental Retardation Syndrome). Affiliated tissues include skin, heart and prostate, and related phenotypes are hypertelorism and low-set ears

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has material basis in variation in the chromosome region Xp11-q21.

Description from OMIM: 309610

Related Diseases for Prieto X-Linked Mental Retardation Syndrome

Diseases related to Prieto X-Linked Mental Retardation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 196)
# Related Disease Score Top Affiliating Genes
1 pr interval, variation in 12.4
2 atrial tachyarrhythmia with short pr interval 12.3
3 phosphoribosylpyrophosphate synthetase superactivity 12.0
4 first-degree atrioventricular block 11.6
5 second-degree atrioventricular block 11.5
6 palindromic rheumatism 11.5
7 rheumatic fever 11.4
8 pierre robin syndrome and oligodactyly 11.2
9 pierre robin syndrome 11.2
10 cone-rod dystrophy and hearing loss 2 11.2
11 epidermolysis bullosa dystrophica, pretibial 11.1
12 epidermolysis bullosa pruriginosa 11.1
13 polymorphic reticulosis 11.1
14 peeling skin syndrome 11.1
15 chaotic atrial tachycardia 11.1
16 breast cancer 10.7
17 horns in sheep 10.5
18 endometrial cancer 10.3
19 neutrophil migration 10.2
20 atrioventricular block 10.2
21 progressive familial heart block, type ia 10.2
22 pemphigus foliaceus 10.2
23 atrial fibrillation 10.2
24 polymyositis 10.2
25 alzheimer disease 10.2
26 pancreatic ductal adenocarcinoma 10.2
27 hepatosplenic t-cell lymphoma 10.2
28 dengue virus 10.1
29 nevus comedonicus 10.1
30 pericarditis 10.1
31 adenocarcinoma 10.1
32 atrial standstill 1 10.1
33 cystic fibrosis 10.1
34 human immunodeficiency virus type 1 10.1
35 blood group, gerbich system 10.1
36 left bundle branch hemiblock 10.1
37 in situ carcinoma 10.1
38 retinoblastoma 10.0
39 salla disease 10.0
40 spondyloocular syndrome 10.0
41 hemolytic anemia 10.0
42 ductal carcinoma in situ 10.0
43 japanese encephalitis 10.0
44 syphilis 10.0
45 cold agglutinin disease 10.0
46 depression 10.0
47 combined pulmonary fibrosis-emphysema syndrome 10.0
48 aplasia cutis congenita, nonsyndromic 9.9
49 heart block, congenital 9.9
50 myocardial infarction 9.9

Graphical network of the top 20 diseases related to Prieto X-Linked Mental Retardation Syndrome:



Diseases related to Prieto X-Linked Mental Retardation Syndrome

Symptoms & Phenotypes for Prieto X-Linked Mental Retardation Syndrome

Human phenotypes related to Prieto X-Linked Mental Retardation Syndrome:

60 33 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 Frequent (79-30%) HP:0000316
2 low-set ears 60 33 Frequent (79-30%) HP:0000369
3 ptosis 60 33 Frequent (79-30%) HP:0000508
4 nystagmus 60 33 Frequent (79-30%) HP:0000639
5 intellectual disability 60 33 Frequent (79-30%) HP:0001249
6 inguinal hernia 60 33 Frequent (79-30%) HP:0000023
7 osteoporosis 60 33 Frequent (79-30%) HP:0000939
8 retrognathia 60 33 Frequent (79-30%) HP:0000278
9 strabismus 60 33 Frequent (79-30%) HP:0000486
10 coxa valga 60 33 Frequent (79-30%) HP:0002673
11 epicanthus 60 33 Frequent (79-30%) HP:0000286
12 cryptorchidism 60 33 Frequent (79-30%) HP:0000028
13 high forehead 60 33 Frequent (79-30%) HP:0000348
14 generalized hypotonia 60 33 Frequent (79-30%) HP:0001290
15 prominent nose 60 33 Frequent (79-30%) HP:0000448
16 cerebral atrophy 60 33 Frequent (79-30%) HP:0002059
17 patellar subluxation 60 33 Frequent (79-30%) HP:0010499
18 clinodactyly 33 HP:0030084
19 muscular hypotonia 33 HP:0001252
20 abnormality of the dentition 33 HP:0000164
21 talipes equinovarus 33 HP:0001762
22 patellar dislocation 33 HP:0002999
23 skin dimples 60 Frequent (79-30%)
24 supernumerary ribs 60 Frequent (79-30%)
25 finger clinodactyly 60 Frequent (79-30%)
26 abnormality of the skin 33 HP:0000951
27 bilateral talipes equinovarus 60 Frequent (79-30%)
28 11 pairs of ribs 33 HP:0000878
29 abnormal fundus morphology 60 Frequent (79-30%)
30 radial deviation of finger 33 HP:0009466
31 abnormal number of incisors 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
nystagmus
strabismus
epicanthal folds

Skeletal Hands:
clinodactyly

Skeletal:
osteoporosis

Skeletal Pelvis:
coxa valga

Head And Neck Nose:
prominent nose

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs

Skeletal Feet:
clubfoot

Skin Nails Hair Skin:
skin dimple (lower back)

Head And Neck Ears:
low-set ears

Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Face:
retrognathia
high forehead

Genitourinary Internal Genitalia Male:
cryptorchidism

Neurologic Central Nervous System:
cerebral atrophy
hypotonia
mental retardation

Skeletal Limbs:
patellar subluxation

Head And Neck Teeth:
double row lower incisors

Clinical features from OMIM:

309610

Drugs & Therapeutics for Prieto X-Linked Mental Retardation Syndrome

Search Clinical Trials , NIH Clinical Center for Prieto X-Linked Mental Retardation Syndrome

Genetic Tests for Prieto X-Linked Mental Retardation Syndrome

Anatomical Context for Prieto X-Linked Mental Retardation Syndrome

MalaCards organs/tissues related to Prieto X-Linked Mental Retardation Syndrome:

42
Skin, Heart, Prostate, Thyroid, Neutrophil, T Cells, Myeloid

Publications for Prieto X-Linked Mental Retardation Syndrome

Articles related to Prieto X-Linked Mental Retardation Syndrome:

# Title Authors Year
1
Refined localization of the Prieto-syndrome locus. ( 8826455 )
1996
2
Gene localization in a family with X-linked syndromal mental retardation (Prieto syndrome). ( 1673297 )
1991

Variations for Prieto X-Linked Mental Retardation Syndrome

Expression for Prieto X-Linked Mental Retardation Syndrome

Search GEO for disease gene expression data for Prieto X-Linked Mental Retardation Syndrome.

Pathways for Prieto X-Linked Mental Retardation Syndrome

GO Terms for Prieto X-Linked Mental Retardation Syndrome

Sources for Prieto X-Linked Mental Retardation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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