PRS
MCID: PRT055
MIFTS: 26

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 57 70
Prieto Syndrome 57 12 20 13
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome 12 20 58
Prieto-Badia-Mulas Syndrome 12 20 58
Mrxs2 57 20
Prs 57 20
Mental Retardation, X-Linked, with Dysmorphism and Cerebral Atrophy 57
Mental Retardation, X-Linked, Syndromic 2; Mrxs2 57
Mental Retardation, X-Linked, Syndromic 2 57

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®:

57 (Updated 05-Apr-2021)
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

GARD : 20 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.

MalaCards based summary : Prieto X-Linked Mental Retardation Syndrome, also known as prieto syndrome, is related to phosphoribosylpyrophosphate synthetase superactivity and pierre robin syndrome and oligodactyly. An important gene associated with Prieto X-Linked Mental Retardation Syndrome is PRS (Prieto X-Linked Mental Retardation Syndrome). Related phenotypes are intellectual disability and ptosis

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 all 46)
# Related Disease Score Top Affiliating Genes
1 phosphoribosylpyrophosphate synthetase superactivity 11.6
2 pierre robin syndrome and oligodactyly 11.1
3 pierre robin syndrome 11.1
4 cerebral atrophy 10.9
5 hemifacial atrophy, progressive 10.9
6 facial hemiatrophy 10.9
7 late-onset retinal degeneration 10.0
8 major affective disorder 8 10.0
9 major affective disorder 9 10.0
10 autism spectrum disorder 10.0
11 bipolar disorder 10.0
12 alcohol dependence 9.8
13 attention deficit-hyperactivity disorder 9.8
14 ovarian cancer 9.8
15 autism 9.8
16 arts syndrome 9.8
17 major depressive disorder 9.8
18 estrogen-receptor positive breast cancer 9.8
19 fruit allergy 9.8
20 mild cognitive impairment 9.8
21 pre-eclampsia 9.8
22 borderline personality disorder 9.8
23 gout 9.8
24 eclampsia 9.8
25 personality disorder 9.8
26 mental depression 9.8
27 conversion disorder 9.8
28 post-traumatic stress disorder 9.8
29 thrombophilia 9.8
30 glomerulonephritis 9.8
31 gliosarcoma 9.8
32 mood disorder 9.8
33 breast disease 9.8
34 schizoaffective disorder 9.8
35 acute stress disorder 9.8
36 chronic kidney disease 9.8
37 vasculitis 9.8
38 learning disability 9.8
39 anca-associated vasculitis 9.8
40 ovarian epithelial cancer 9.8
41 soft tissue sarcoma 9.8
42 depression 9.8
43 head injury 9.8
44 hypotonia 9.8
45 paresthesia 9.8
46 diffuse alveolar hemorrhage 9.8

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 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
3 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
4 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
5 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
6 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
7 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
8 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
9 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
10 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
11 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
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 abnormality of the dentition 31 HP:0000164
25 talipes equinovarus 31 HP:0001762
26 patellar dislocation 31 HP:0002999
27 skin dimples 58 Frequent (79-30%)
28 radial deviation of finger 31 HP:0009466
29 11 pairs of ribs 31 HP:0000878
30 clinodactyly 31 HP:0030084
31 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
nystagmus
hypertelorism
strabismus
epicanthal folds

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)

Genitourinary External Genitalia Male:
inguinal hernia

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 (Updated 05-Apr-2021)

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

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 57
1673297 1991
2
X-linked dysmorphic syndrome with mental retardation. 57
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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