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 : 53 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.

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

Description from OMIM: 180870

Related Diseases for Ruvalcaba Syndrome

Diseases related to Ruvalcaba Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 bannayan-riley-ruvalcaba syndrome 32.5 HADHA PTEN
2 cowden disease 30.8 DUSP13 PTEN
3 pten hamartoma tumor syndrome 11.1
4 proteus syndrome 10.9
5 juvenile polyposis syndrome 9.9
6 breast cancer 9.8
7 intussusception 9.8
8 autism 9.8
9 aging 9.8
10 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 9.8
11 testicular microlithiasis 9.8
12 arteriovenous fistula 9.8
13 cataract 9.8
14 chromosome 10q23 deletion syndrome 9.8
15 skin lipoma 9.8
16 arteriovenous malformation 9.8
17 lipomatosis 9.8
18 myopathy 9.8
19 thyroiditis 9.8
20 lichen planus 9.8
21 hemimegalencephaly 9.8
22 precocious puberty 9.8

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:

57
Skeletal Spine:
scoliosis
kyphosis

Head And Neck Head:
microcephaly

Endocrine Features:
delayed puberty

GenitourinaryInternal GenitaliaMale:
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:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
5 kyphosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002808
6 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
9 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
10 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
11 abnormality of visual evoked potentials 59 32 occasional (7.5%) Occasional (29-5%) HP:0000649
12 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
13 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
14 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
15 cone-shaped epiphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010579
16 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
17 abnormal electroretinogram 59 32 occasional (7.5%) Occasional (29-5%) HP:0000512
18 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
19 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
20 hypopigmented skin patches 59 32 occasional (7.5%) Occasional (29-5%) HP:0001053
21 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
22 small hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0200055
23 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
24 dental crowding 59 32 hallmark (90%) Very frequent (99-80%) HP:0000678
25 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
26 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
27 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
28 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
29 abnormality of the elbow 59 32 frequent (33%) Frequent (79-30%) HP:0009811
30 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
31 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
32 synostosis of carpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0005048
33 proximal placement of thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009623
34 abnormal localization of kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0100542
35 short metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010049
36 abnormality of vertebral epiphysis morphology 59 32 frequent (33%) Frequent (79-30%) HP:0100734
37 short stature 32 HP:0004322
38 short palm 32 HP:0004279
39 short foot 32 HP:0001773
40 underdeveloped nasal alae 32 HP:0000430
41 retinal dystrophy 32 HP:0000556
42 short phalanx of finger 32 HP:0009803
43 narrow nose 32 HP:0000460
44 limited elbow extension 32 HP:0001377
45 short metatarsal 32 HP:0010743
46 abnormality of the breast 32 HP:0000769

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

26
# 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:

41
Skin, Kidney, Bone, Thyroid, Spinal Cord

Publications for Ruvalcaba Syndrome

Articles related to Ruvalcaba Syndrome:

(show top 50) (show all 63)
# 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
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. ( 29684080 )
2018
3
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. ( 29444762 )
2018
4
Lichen planus hypertrophicus-inversus occurring in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 29512180 )
2018
5
Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report. ( 28401059 )
2017
6
Germline<i>TTN</i>variants are enriched in<i>PTEN</i>-wildtype Bannayan-Riley-Ruvalcaba syndrome. ( 29263846 )
2017
7
Say What? Bannayan-Riley-Ruvalcaba Syndrome Presenting with Gastrointestinal Bleeding Due to Hamartoma-Induced Intussusception. ( 28168574 )
2017
8
Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. ( 29168369 )
2017
9
Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 27358095 )
2016
10
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. ( 27535890 )
2016
11
A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review. ( 26228616 )
2015
12
Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome. ( 25008800 )
2014
13
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. ( 24474112 )
2013
14
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. ( 23662932 )
2013
15
Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy. ( 23783019 )
2013
16
Thyroid involvement in two patients with bannayan-riley-ruvalcaba syndrome. ( 24379037 )
2013
17
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients. ( 23907246 )
2013
18
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
19
[Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis in a two-year-old girl]. ( 22673385 )
2012
20
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. ( 22911484 )
2012
21
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. ( 22327138 )
2012
22
Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome. ( 21856113 )
2011
23
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. ( 21659347 )
2011
24
Bannayan Riley Ruvalcaba syndrome. ( 20697678 )
2010
25
Ruvalcaba syndrome revisited. ( 20583188 )
2010
26
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. ( 19321504 )
2009
27
Treatment of intractable abdominal pain patient with Bannayan-Riley-Ruvalcaba syndrome using spinal cord stimulation. ( 19813502 )
2009
28
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. ( 18499642 )
2008
29
Testicular hamartomas in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 18645085 )
2008
30
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. ( 18080326 )
2008
31
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
32
Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome. ( 18025323 )
2007
33
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. ( 16773562 )
2006
34
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. ( 16952599 )
2006
35
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. ( 16894538 )
2006
36
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. ( 17033968 )
2006
37
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. ( 17032868 )
2006
38
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. ( 16909363 )
2006
39
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. ( 16198785 )
2005
40
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
41
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. ( 14574156 )
2003
42
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. ( 12372056 )
2002
43
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. ( 11536076 )
2001
44
Bannayan-Riley-Ruvalcaba syndrome: report of a family. ( 12117207 )
2001
45
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. ( 11332402 )
2001
46
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. ( 10640930 )
2000
47
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. ( 10679034 )
2000
48
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
49
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
50
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. ( 10400993 )
1999

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
17 ExPASy
19 FMA
28 GO
29 GTR
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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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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