MCID: PRT055
MIFTS: 29

Prieto X-Linked Mental Retardation Syndrome

Categories: Rare diseases, Neuronal diseases, Mental 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 73
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome 12 53 59
Prieto-Badia-Mulas Syndrome 12 53 59
Prieto Syndrome 57 12 53
Mental Retardation, X-Linked, Syndromic 2 57 53
Mrxs2 57 53
Prs 57 53
Mental Retardation, X-Linked, with Dysmorphism and Cerebral Atrophy 57
Mental Retardation, X-Linked, Syndromic 2; Mrxs2 57

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
prieto x-linked mental retardation syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Prieto X-Linked Mental Retardation Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2958Disease definitionThis syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth.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 x-linked intellectual disability-dysmorphism-cerebral atrophy 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 inguinal hernia and cryptorchidism

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 106)
# Related Disease Score Top Affiliating Genes
1 pr interval, variation in 12.2
2 atrial tachyarrhythmia with short pr interval 12.1
3 phosphoribosylpyrophosphate synthetase superactivity 11.8
4 first-degree atrioventricular block 11.4
5 palindromic rheumatism 11.3
6 pierre robin syndrome and oligodactyly 11.1
7 pierre robin syndrome 11.1
8 epidermolysis bullosa dystrophica, pretibial 10.9
9 epidermolysis bullosa pruriginosa 10.9
10 chaotic atrial tachycardia 10.9
11 polymorphic reticulosis 10.9
12 breast cancer 10.5
13 atrioventricular block 10.0
14 alzheimer disease 10.0
15 pancreatic ductal adenocarcinoma 10.0
16 hepatosplenic t-cell lymphoma 10.0
17 human immunodeficiency virus type 1 9.9
18 endometrial cancer 9.9
19 atrial fibrillation 9.9
20 cold agglutinin disease 9.9
21 atrial standstill 1 9.8
22 heart block, congenital 9.8
23 ductal carcinoma in situ 9.8
24 vaginitis 9.8
25 adenocarcinoma 9.8
26 progressive familial heart block, type ia 9.7
27 retinoblastoma 9.7
28 schizophrenia 9.7
29 progressive familial heart block, type ib 9.7
30 myocardial infarction 9.7
31 congestive heart failure 9.7
32 diabetes mellitus 9.7
33 hemolytic anemia 9.7
34 leukemia 9.7
35 ovarian serous carcinoma 9.7
36 infective endocarditis 9.7
37 estrogen-receptor positive breast cancer 9.7
38 endocarditis 9.7
39 right bundle branch block 9.7
40 cholestasis 9.7
41 echinococcosis 9.7
42 pericarditis 9.7
43 intrahepatic cholestasis 9.7
44 endometriosis 9.7
45 inferior myocardial infarction 9.7
46 neuronitis 9.7
47 pityriasis rotunda 9.7
48 back pain 9.7
49 endotheliitis 9.7
50 cryoglobulinemia, familial mixed 9.6

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

Symptoms via clinical synopsis from OMIM:

57
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

Head And Neck Teeth:
double row lower incisors

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Neurologic Central Nervous System:
cerebral atrophy
hypotonia
mental retardation

Skeletal Feet:
clubfoot

Skeletal Limbs:
patellar subluxation


Clinical features from OMIM:

309610

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

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 HP:0000023
2 cryptorchidism 32 HP:0000028
3 abnormality of the dentition 32 HP:0000164
4 retrognathia 32 HP:0000278
5 epicanthus 32 HP:0000286
6 hypertelorism 32 HP:0000316
7 high forehead 32 HP:0000348
8 low-set ears 32 HP:0000369
9 prominent nose 32 HP:0000448
10 strabismus 32 HP:0000486
11 ptosis 32 HP:0000508
12 nystagmus 32 HP:0000639
13 11 pairs of ribs 32 HP:0000878
14 osteoporosis 32 HP:0000939
15 abnormality of the skin 32 HP:0000951
16 intellectual disability 32 HP:0001249
17 muscular hypotonia 32 HP:0001252
18 generalized hypotonia 32 HP:0001290
19 talipes equinovarus 32 HP:0001762
20 cerebral atrophy 32 HP:0002059
21 coxa valga 32 HP:0002673
22 patellar dislocation 32 HP:0002999
23 radial deviation of finger 32 HP:0009466
24 patellar subluxation 32 HP:0010499
25 clinodactyly 32 HP:0030084

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:

41
Skin

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 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
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