MCID: RVL002
MIFTS: 34

Ruvalcaba Syndrome

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ruvalcaba Syndrome

Summaries for Ruvalcaba Syndrome

NIH Rare Diseases : 50 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 scoliosis, seizures and high forehead. An important gene associated with Ruvalcaba Syndrome is PTEN (Phosphatase And Tensin Homolog). Affiliated tissues include bone, kidney and skin, and related phenotype is Apoptosis resistance.

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 18)
id Related Disease Score Top Affiliating Genes
1 bannayan-riley-ruvalcaba syndrome 12.4
2 cowden disease 11.1
3 pten hamartoma tumor syndrome 11.0
4 proteus syndrome, somatic 10.8
5 vascular malformation 9.9
6 arteriovenous malformation 9.7
7 lipomatosis 9.7
8 myopathy 9.7
9 thyroiditis 9.7
10 intussusception 9.7
11 breast cancer 9.7
12 lchad deficiency 9.7
13 arteriovenous fistula 9.7
14 cataract 9.7
15 chromosome 10q23 deletion syndrome 9.7
16 viral encephalitis 9.7 DUSP13 PTEN
17 glioma susceptibility 2 9.1 HADHA PTEN
18 myotonia with skeletal abnormalities and mental retardation 8.8 DUSP13 HADHA PTEN

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:

54

Growth- Height:
short stature

Neurologic- Central Nervous System:
mental retardation

Head And Neck- Head:
microcephaly

Genitourinary- Internal Genitalia Male:
cryptorchidism

Genitourinary- External Genitalia Male:
inguinal hernia

Endocrine Features:
delayed puberty

Skeletal- Limbs:
short limbs
limitation of elbow extension
prominent elbows

Chest- Breasts:
large areolae

Skeletal- Spine:
scoliosis
kyphosis

Head And Neck- Eyes:
downslanting palpebral fissures
central tapetoretinal dystrophy

Skeletal- Hands:
short metacarpals
small hands
short phalanges

Chest- External Features:
narrow chest

Skeletal- Feet:
small feet
short metatarsals

Head And Neck- Teeth:
crowded teeth

Head And Neck- Nose:
hypoplastic alae nasi
narrow nose


Clinical features from OMIM:

180870

Human phenotypes related to Ruvalcaba Syndrome:

56 32 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
2 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 high forehead 56 32 frequent (33%) Frequent (79-30%) HP:0000348
4 ptosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000508
5 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
6 hematuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0000790
7 kyphosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002808
8 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
9 short nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0003196
10 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 pectus carinatum 56 32 frequent (33%) Frequent (79-30%) HP:0000768
12 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
13 narrow chest 56 32 frequent (33%) Frequent (79-30%) HP:0000774
14 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
15 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
16 thin vermilion border 56 32 hallmark (90%) Very frequent (99-80%) HP:0000233
17 delayed puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000823
18 downslanted palpebral fissures 56 32 hallmark (90%) Very frequent (99-80%) HP:0000494
19 micromelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002983
20 hypopigmented skin patches 56 32 occasional (7.5%) Occasional (29-5%) HP:0001053
21 dental crowding 56 32 hallmark (90%) Very frequent (99-80%) HP:0000678
22 abnormal electroretinogram 56 32 occasional (7.5%) Occasional (29-5%) HP:0000512
23 short metacarpal 56 32 hallmark (90%) Very frequent (99-80%) HP:0010049
24 generalized hirsutism 56 32 occasional (7.5%) Occasional (29-5%) HP:0002230
25 convex nasal ridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000444
26 narrow mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000160
27 small hand 56 32 hallmark (90%) Very frequent (99-80%) HP:0200055
28 abnormality of visual evoked potentials 56 32 occasional (7.5%) Occasional (29-5%) HP:0000649
29 cone-shaped epiphysis 56 32 hallmark (90%) Very frequent (99-80%) HP:0010579
30 clinodactyly of the 5th finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0004209
31 abnormality of the elbow 56 32 frequent (33%) Frequent (79-30%) HP:0009811
32 synostosis of carpal bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0005048
33 proximal placement of thumb 56 32 hallmark (90%) Very frequent (99-80%) HP:0009623
34 abnormal localization of kidney 56 32 occasional (7.5%) Occasional (29-5%) HP:0100542
35 abnormality of vertebral epiphysis morphology 56 32 frequent (33%) Frequent (79-30%) HP:0100734
36 short stature 32 HP:0004322
37 brachydactyly 32 hallmark (90%) HP:0001156
38 limited elbow extension 32 HP:0001377
39 retinal dystrophy 32 HP:0000556
40 narrow nose 32 HP:0000460
41 short metatarsal 32 HP:0010743
42 short palm 32 HP:0004279
43 short foot 32 HP:0001773
44 underdeveloped nasal alae 32 HP:0000430
45 brachydactyly syndrome 56 Very frequent (99-80%)
46 short phalanx of finger 32 HP:0009803
47 abnormality of the breast 32 HP:0000769

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

26
id 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:

39
Bone, Kidney, Skin, Thyroid, Spinal Cord

Publications for Ruvalcaba Syndrome

Articles related to Ruvalcaba Syndrome:

(show top 50) (show all 56)
id Title Authors Year
1
Say What? Bannayan-Riley-Ruvalcaba Syndrome Presenting with Gastrointestinal Bleeding Due to Hamartoma-Induced Intussusception. ( 28168574 )
2017
2
Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report. ( 28401059 )
2017
3
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. ( 27535890 )
2016
4
Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 27358095 )
2016
5
A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review. ( 26228616 )
2015
6
Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome. ( 25008800 )
2014
7
Thyroid involvement in two patients with bannayan-riley-ruvalcaba syndrome. ( 24379037 )
2013
8
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. ( 24474112 )
2013
9
Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy. ( 23783019 )
2013
10
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. ( 23662932 )
2013
11
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients. ( 23907246 )
2013
12
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. ( 22327138 )
2012
13
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. ( 22911484 )
2012
14
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
15
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. ( 21659347 )
2011
16
Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome. ( 21856113 )
2011
17
Ruvalcaba syndrome revisited. ( 20583188 )
2010
18
Bannayan Riley Ruvalcaba syndrome. ( 20697678 )
2010
19
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. ( 19321504 )
2009
20
Treatment of intractable abdominal pain patient with Bannayan-Riley-Ruvalcaba syndrome using spinal cord stimulation. ( 19813502 )
2009
21
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. ( 18499642 )
2008
22
Testicular hamartomas in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 18645085 )
2008
23
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. ( 18080326 )
2008
24
Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome. ( 18025323 )
2007
25
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
26
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. ( 17033968 )
2006
27
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. ( 17032868 )
2006
28
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. ( 16894538 )
2006
29
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. ( 16909363 )
2006
30
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. ( 16773562 )
2006
31
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. ( 16952599 )
2006
32
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. ( 16198785 )
2005
33
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
34
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. ( 14574156 )
2003
35
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. ( 12372056 )
2002
36
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. ( 11536076 )
2001
37
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. ( 11332402 )
2001
38
Bannayan-Riley-Ruvalcaba syndrome: report of a family. ( 12117207 )
2001
39
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. ( 10679034 )
2000
40
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
41
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. ( 10640930 )
2000
42
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
43
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. ( 10400993 )
1999
44
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
45
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. ( 9856571 )
1998
46
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. ( 9661881 )
1998
47
Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. ( 9352843 )
1997
48
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. ( 9286463 )
1997
49
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. ( 8859033 )
1996
50
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome. ( 7977472 )
1994

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:

id 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:

id 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

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