MCID: RVL002
MIFTS: 37

Ruvalcaba Syndrome

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ruvalcaba Syndrome

Summaries for Ruvalcaba Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3121Disease definitionRuvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.Visit the Orphanet disease page for more resources. Last updated: 1/21/2015

MalaCards based summary : Ruvalcaba Syndrome is related to bannayan-riley-ruvalcaba syndrome and cowden disease, and has symptoms including seizures, ptosis and intellectual disability. An important gene associated with Ruvalcaba Syndrome is PTEN (Phosphatase And Tensin Homolog). Affiliated tissues include skin, kidney and bone, and related phenotype is Apoptosis resistance.

Description from OMIM: 180870

Related Diseases for Ruvalcaba Syndrome

Graphical network of the top 20 diseases related to Ruvalcaba Syndrome:



Diseases related to Ruvalcaba Syndrome

Symptoms & Phenotypes for Ruvalcaba Syndrome

Symptoms via clinical synopsis from OMIM:

53
Skeletal Spine:
scoliosis
kyphosis

Head And Neck Head:
microcephaly

Endocrine Features:
delayed puberty

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Eyes:
downslanting palpebral fissures
central tapetoretinal dystrophy

Skeletal Feet:
short metatarsals
small feet

Skeletal Limbs:
short limbs
limitation of elbow extension
prominent elbows

Chest Breasts:
large areolae

Genitourinary External Genitalia Male:
inguinal hernia

Growth Height:
short stature

Chest External Features:
narrow chest

Head And Neck Nose:
narrow nose
hypoplastic alae nasi

Skeletal Hands:
short metacarpals
short phalanges
small hands

Neurologic Central Nervous System:
mental retardation

Head And Neck Teeth:
crowded teeth


Clinical features from OMIM:

180870

Human phenotypes related to Ruvalcaba Syndrome:

55 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000508
3 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
4 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
5 kyphosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002808
6 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
7 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
8 pectus carinatum 55 31 frequent (33%) Frequent (79-30%) HP:0000768
9 short nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0003196
10 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
11 abnormality of visual evoked potentials 55 31 occasional (7.5%) Occasional (29-5%) HP:0000649
12 delayed puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000823
13 narrow chest 55 31 frequent (33%) Frequent (79-30%) HP:0000774
14 micromelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002983
15 cone-shaped epiphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0010579
16 generalized hirsutism 55 31 occasional (7.5%) Occasional (29-5%) HP:0002230
17 abnormal electroretinogram 55 31 occasional (7.5%) Occasional (29-5%) HP:0000512
18 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
19 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
20 hypopigmented skin patches 55 31 occasional (7.5%) Occasional (29-5%) HP:0001053
21 clinodactyly of the 5th finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0004209
22 small hand 55 31 hallmark (90%) Very frequent (99-80%) HP:0200055
23 hematuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0000790
24 dental crowding 55 31 hallmark (90%) Very frequent (99-80%) HP:0000678
25 downslanted palpebral fissures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000494
26 narrow mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000160
27 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
28 high forehead 55 31 frequent (33%) Frequent (79-30%) HP:0000348
29 abnormality of the elbow 55 31 frequent (33%) Frequent (79-30%) HP:0009811
30 convex nasal ridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000444
31 thin vermilion border 55 31 hallmark (90%) Very frequent (99-80%) HP:0000233
32 synostosis of carpal bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0005048
33 proximal placement of thumb 55 31 hallmark (90%) Very frequent (99-80%) HP:0009623
34 abnormal localization of kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0100542
35 short metacarpal 55 31 hallmark (90%) Very frequent (99-80%) HP:0010049
36 abnormality of vertebral epiphysis morphology 55 31 frequent (33%) Frequent (79-30%) HP:0100734
37 short stature 31 HP:0004322
38 short palm 31 HP:0004279
39 short foot 31 HP:0001773
40 underdeveloped nasal alae 31 HP:0000430
41 retinal dystrophy 31 HP:0000556
42 short phalanx of finger 31 HP:0009803
43 narrow nose 31 HP:0000460
44 limited elbow extension 31 HP:0001377
45 short metatarsal 31 HP:0010743
46 abnormality of the breast 31 HP:0000769

GenomeRNAi Phenotypes related to Ruvalcaba Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Apoptosis resistance GR00093-A-0 8.62 DUSP13 PTEN

Drugs & Therapeutics for Ruvalcaba Syndrome

Search Clinical Trials , NIH Clinical Center for Ruvalcaba Syndrome

Genetic Tests for Ruvalcaba Syndrome

Anatomical Context for Ruvalcaba Syndrome

MalaCards organs/tissues related to Ruvalcaba Syndrome:

38
Skin, Kidney, Bone, Thyroid, Spinal Cord

Publications for Ruvalcaba Syndrome

Articles related to Ruvalcaba Syndrome:

(show top 50) (show all 60)
# Title Authors Year
1
A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty. ( 29194042 )
2018
2
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. ( 29444762 )
2018
3
Say What? Bannayan-Riley-Ruvalcaba Syndrome Presenting with Gastrointestinal Bleeding Due to Hamartoma-Induced Intussusception. ( 28168574 )
2017
4
Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report. ( 28401059 )
2017
5
Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. ( 29168369 )
2017
6
Germline<i>TTN</i>variants are enriched in<i>PTEN</i>-wildtype Bannayan-Riley-Ruvalcaba syndrome. ( 29263846 )
2017
7
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. ( 27535890 )
2016
8
Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 27358095 )
2016
9
A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review. ( 26228616 )
2015
10
Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome. ( 25008800 )
2014
11
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients. ( 23907246 )
2013
12
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. ( 24474112 )
2013
13
Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy. ( 23783019 )
2013
14
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. ( 23662932 )
2013
15
Thyroid involvement in two patients with bannayan-riley-ruvalcaba syndrome. ( 24379037 )
2013
16
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. ( 22911484 )
2012
17
Muscle hemangiomatosis presenting as a severe feature in a patient with the pten mutation: expanding the phenotype of vascular malformations in bannayan-riley-ruvalcaba syndrome. ( 24052722 )
2012
18
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. ( 22327138 )
2012
19
Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome. ( 21856113 )
2011
20
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. ( 21659347 )
2011
21
Ruvalcaba syndrome revisited. ( 20583188 )
2010
22
Bannayan Riley Ruvalcaba syndrome. ( 20697678 )
2010
23
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. ( 19321504 )
2009
24
Treatment of intractable abdominal pain patient with Bannayan-Riley-Ruvalcaba syndrome using spinal cord stimulation. ( 19813502 )
2009
25
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. ( 18499642 )
2008
26
Testicular hamartomas in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 18645085 )
2008
27
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. ( 18080326 )
2008
28
Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome. ( 18025323 )
2007
29
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. ( 17526800 )
2007
30
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. ( 17033968 )
2006
31
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. ( 16909363 )
2006
32
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. ( 17032868 )
2006
33
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. ( 16773562 )
2006
34
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. ( 16894538 )
2006
35
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. ( 16952599 )
2006
36
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. ( 16198785 )
2005
37
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. ( 14574156 )
2003
38
Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. ( 12844284 )
2003
39
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. ( 12372056 )
2002
40
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. ( 11536076 )
2001
41
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. ( 11332402 )
2001
42
Bannayan-Riley-Ruvalcaba syndrome: report of a family. ( 12117207 )
2001
43
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. ( 10679034 )
2000
44
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. ( 10640930 )
2000
45
Absence of germline mutations in MINPP1, a phosphatase encoding gene centromeric of PTEN, in patients with Cowden and Bannayan-Riley-Ruvalcaba syndrome without germline PTEN mutations. ( 11182934 )
2000
46
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. ( 10400993 )
1999
47
Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS). ( 10076877 )
1999
48
Balanced translocation of 10q and13q, including the PTEN gene, in a boy with a human chorionic gonadotropin-secreting tumor and the Bannayan-Riley-Ruvalcaba syndrome. ( 10599735 )
1999
49
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. ( 9661881 )
1998
50
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. ( 9856571 )
1998

Variations for Ruvalcaba Syndrome

Expression for Ruvalcaba Syndrome

Search GEO for disease gene expression data for Ruvalcaba Syndrome.

Pathways for Ruvalcaba Syndrome

GO Terms for Ruvalcaba Syndrome

Biological processes related to Ruvalcaba Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.32 HADHA PTEN
2 response to drug GO:0042493 9.26 HADHA PTEN
3 protein dephosphorylation GO:0006470 9.16 DUSP13 PTEN
4 dephosphorylation GO:0016311 8.96 DUSP13 PTEN
5 peptidyl-tyrosine dephosphorylation GO:0035335 8.62 DUSP13 PTEN

Molecular functions related to Ruvalcaba Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine phosphatase activity GO:0004725 8.96 DUSP13 PTEN
2 protein tyrosine/serine/threonine phosphatase activity GO:0008138 8.62 DUSP13 PTEN

Sources for Ruvalcaba Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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