PRS
MCID: PRT055
MIFTS: 29

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 56 71
Prieto Syndrome 56 12 52 13
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome 12 52 58
Prieto-Badia-Mulas Syndrome 12 52 58
Mental Retardation, X-Linked, Syndromic 2 56 52
Mrxs2 56 52
Prs 56 52
Mental Retardation, X-Linked, with Dysmorphism and Cerebral Atrophy 56
Mental Retardation, X-Linked, Syndromic 2; Mrxs2 56

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
x-linked recessive


HPO:

31
prieto x-linked mental retardation syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Prieto X-Linked Mental Retardation Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2958 Definition An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features. Epidemiology It has been described in eight males from multiple generations of one family. Etiology The 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, and related phenotypes are intellectual disability and inguinal hernia

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.

More information from OMIM: 309610 PS309510

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 396)
# Related Disease Score Top Affiliating Genes
1 pr interval, variation in 12.7
2 atrial tachyarrhythmia with short pr interval 12.4
3 phosphoribosylpyrophosphate synthetase superactivity 12.3
4 pityriasis rosea 11.9
5 first-degree atrioventricular block 11.7
6 second-degree atrioventricular block 11.6
7 palindromic rheumatism 11.6
8 rheumatic fever 11.5
9 pierre robin syndrome and oligodactyly 11.3
10 pierre robin syndrome 11.3
11 cerebral atrophy 11.3
12 epidermolysis bullosa dystrophica, pretibial 11.2
13 epidermolysis bullosa pruriginosa 11.2
14 polymorphic reticulosis 11.2
15 hemifacial atrophy, progressive 11.2
16 peeling skin syndrome 11.2
17 facial hemiatrophy 11.2
18 chaotic atrial tachycardia 11.2
19 breast cancer 10.6
20 atrioventricular block 10.5
21 endometrial cancer 10.5
22 progressive familial heart block, type ia 10.4
23 human immunodeficiency virus type 1 10.3
24 atrial fibrillation 10.3
25 alzheimer disease 10.3
26 pancreatic ductal adenocarcinoma 10.3
27 hepatosplenic t-cell lymphoma 10.3
28 left bundle branch hemiblock 10.3
29 pericarditis 10.3
30 adenocarcinoma 10.3
31 dengue virus 10.2
32 in situ carcinoma 10.2
33 syncope 10.2
34 cardiac conduction defect 10.2
35 hepatitis c virus 10.2
36 ductal carcinoma in situ 10.2
37 amyotrophic lateral sclerosis 1 10.2
38 progressive familial heart block, type ib 10.2
39 right bundle branch block 10.2
40 constipation 10.2
41 lateral sclerosis 10.2
42 hemolytic anemia 10.2
43 coronary heart disease 1 10.2
44 cold agglutinin disease 10.2
45 heart block, congenital 10.1
46 pulmonary hypertension, primary, 3 10.1
47 endometriosis 10.1
48 breast ductal carcinoma 10.1
49 congestive heart failure 10.1
50 frontotemporal dementia 10.1

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:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
3 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
4 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
5 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
6 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
7 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
8 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
9 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
10 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
11 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
12 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
13 coxa valga 58 31 frequent (33%) Frequent (79-30%) HP:0002673
14 supernumerary ribs 58 31 frequent (33%) Frequent (79-30%) HP:0005815
15 bilateral talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001776
16 prominent nose 58 31 frequent (33%) Frequent (79-30%) HP:0000448
17 cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002059
18 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
19 finger clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0040019
20 abnormal fundus morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001098
21 patellar subluxation 58 31 frequent (33%) Frequent (79-30%) HP:0010499
22 abnormal number of incisors 58 31 frequent (33%) Frequent (79-30%) HP:0011064
23 skin dimple 31 frequent (33%) HP:0010781
24 muscular hypotonia 31 HP:0001252
25 abnormality of the dentition 31 HP:0000164
26 talipes equinovarus 31 HP:0001762
27 patellar dislocation 31 HP:0002999
28 skin dimples 58 Frequent (79-30%)
29 radial deviation of finger 31 HP:0009466
30 11 pairs of ribs 31 HP:0000878
31 clinodactyly 31 HP:0030084

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
inguinal hernia

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
retrognathia
high forehead

Skeletal Pelvis:
coxa valga

Neurologic Central Nervous System:
cerebral atrophy
hypotonia
mental retardation

Skeletal Hands:
clinodactyly

Skeletal Feet:
clubfoot

Skin Nails Hair Skin:
skin dimple (lower back)

Head And Neck Eyes:
hypertelorism
nystagmus
strabismus
ptosis
epicanthal folds

Skeletal:
osteoporosis

Head And Neck Ears:
low-set ears

Head And Neck Nose:
prominent nose

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs

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:

40
Skin

Publications for Prieto X-Linked Mental Retardation Syndrome

Articles related to Prieto X-Linked Mental Retardation Syndrome:

# Title Authors PMID Year
1
Gene localization in a family with X-linked syndromal mental retardation (Prieto syndrome). 61 56
1673297 1991
2
X-linked dysmorphic syndrome with mental retardation. 56
3121220 1987
3
Refined localization of the Prieto-syndrome locus. 61
8826455 1996

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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