MCID: RVL002
MIFTS: 31

Ruvalcaba Syndrome malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ruvalcaba Syndrome

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Sources:
31ICD10 via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Ruvalcaba Syndrome:

Name: Ruvalcaba Syndrome 52 48 54 68

Characteristics:

Orphanet epidemiological data:

54
ruvalcaba syndrome:
Age of onset: Infancy,Neonatal

HPO:

64
ruvalcaba syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 180870
Orphanet54 ORPHA3121
UMLS via Orphanet69 C0265248
ICD10 via Orphanet31 Q87.8

Summaries for Ruvalcaba Syndrome

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MalaCards based summary: Ruvalcaba Syndrome is related to bannayan-riley-ruvalcaba syndrome and proteus syndrome, somatic, and has symptoms including narrow mouth, abnormality of the teeth and thin vermilion border. An important gene associated with Ruvalcaba Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways is Glycerophospholipid biosynthesis. Affiliated tissues include bone, skin and kidney, and related mouse phenotype Apoptosis resistance.

Description from OMIM:52 180870

Related Diseases for Ruvalcaba Syndrome

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Graphical network of diseases related to Ruvalcaba Syndrome:



Diseases related to ruvalcaba syndrome

Symptoms & Phenotypes for Ruvalcaba Syndrome

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Symptoms by clinical synopsis from OMIM:

180870

Clinical features from OMIM:

180870

Human phenotypes related to Ruvalcaba Syndrome:

 64 54 (show all 51)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow mouth64 54 hallmark (90%) Very frequent (99-80%) HP:0000160
2 abnormality of the teeth64 hallmark (90%) HP:0000164
3 thin vermilion border64 54 hallmark (90%) Very frequent (99-80%) HP:0000233
4 microcephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000252
5 convex nasal ridge64 54 hallmark (90%) Very frequent (99-80%) HP:0000444
6 downslanted palpebral fissures64 54 hallmark (90%) Very frequent (99-80%) HP:0000494
7 ptosis64 54 hallmark (90%) Very frequent (99-80%) HP:0000508
8 brachydactyly syndrome64 54 hallmark (90%) Very frequent (99-80%) HP:0001156
9 abnormality of the metacarpal bones64 hallmark (90%) HP:0001163
10 kyphosis64 54 hallmark (90%) Very frequent (99-80%) HP:0002808
11 micromelia64 54 hallmark (90%) Very frequent (99-80%) HP:0002983
12 short nose64 54 hallmark (90%) Very frequent (99-80%) HP:0003196
13 short palm64 hallmark (90%) HP:0004279
14 synostosis of carpal bones64 54 hallmark (90%) Very frequent (99-80%) HP:0005048
15 proximal placement of thumb64 54 hallmark (90%) Very frequent (99-80%) HP:0009623
16 cone-shaped epiphysis64 54 hallmark (90%) Very frequent (99-80%) HP:0010579
17 cognitive impairment64 hallmark (90%) HP:0100543
18 cryptorchidism64 54 typical (50%) Frequent (79-30%) HP:0000028
19 high forehead64 54 typical (50%) Frequent (79-30%) HP:0000348
20 pectus carinatum64 54 typical (50%) Frequent (79-30%) HP:0000768
21 narrow chest64 54 typical (50%) Frequent (79-30%) HP:0000774
22 intrauterine growth retardation64 54 typical (50%) Frequent (79-30%) HP:0001511
23 scoliosis64 54 typical (50%) Frequent (79-30%) HP:0002650
24 abnormality of the elbow64 54 typical (50%) Frequent (79-30%) HP:0009811
25 abnormality of vertebral epiphysis morphology64 54 typical (50%) Frequent (79-30%) HP:0100734
26 abnormal electroretinogram64 54 occasional (7.5%) Occasional (29-5%) HP:0000512
27 abnormality of visual evoked potentials64 54 occasional (7.5%) Occasional (29-5%) HP:0000649
28 hematuria64 54 occasional (7.5%) Occasional (29-5%) HP:0000790
29 hypertrichosis64 occasional (7.5%) HP:0000998
30 hypopigmented skin patches64 54 occasional (7.5%) Occasional (29-5%) HP:0001053
31 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
32 clinodactyly of the 5th finger64 54 occasional (7.5%) Occasional (29-5%) HP:0004209
33 hernia of the abdominal wall64 occasional (7.5%) HP:0004299
34 abnormal localization of kidney64 54 occasional (7.5%) Occasional (29-5%) HP:0100542
35 inguinal hernia64 54 Occasional (29-5%) HP:0000023
36 underdeveloped nasal alae64 HP:0000430
37 narrow nose64 HP:0000460
38 retinal dystrophy64 HP:0000556
39 dental crowding64 54 Very frequent (99-80%) HP:0000678
40 abnormality of the breast64 HP:0000769
41 delayed puberty64 54 Occasional (29-5%) HP:0000823
42 intellectual disability64 54 Very frequent (99-80%) HP:0001249
43 limited elbow extension64 HP:0001377
44 short foot64 HP:0001773
45 short stature64 HP:0004322
46 short phalanx of finger64 HP:0009803
47 short metacarpal64 54 Very frequent (99-80%) HP:0010049
48 short metatarsal64 HP:0010743
49 small hand64 54 Very frequent (99-80%) HP:0200055
50 global developmental delay54 Very frequent (99-80%)
51 generalized hirsutism54 Occasional (29-5%)

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00093-A-09.3DUSP13, PTEN

Drugs & Therapeutics for Ruvalcaba Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ruvalcaba Syndrome

Genetic Tests for Ruvalcaba Syndrome

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Anatomical Context for Ruvalcaba Syndrome

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MalaCards organs/tissues related to Ruvalcaba Syndrome:

36
Bone, Skin, Kidney, Thyroid, Spinal cord

Publications for Ruvalcaba Syndrome

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Articles related to Ruvalcaba Syndrome:

(show top 50)    (show all 54)
idTitleAuthorsYear
1
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. (27535890)
2016
2
Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. (27358095)
2016
3
A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review. (26228616)
2015
4
Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome. (25008800)
2014
5
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients. (23907246)
2013
6
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. (24474112)
2013
7
Thyroid involvement in two patients with bannayan-riley-ruvalcaba syndrome. (24379037)
2013
8
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. (23662932)
2013
9
Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy. (23783019)
2013
10
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. (22327138)
2012
11
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
12
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. (22911484)
2012
13
Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome. (21856113)
2011
14
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. (21659347)
2011
15
Ruvalcaba syndrome revisited. (20583188)
2010
16
Bannayan Riley Ruvalcaba syndrome. (20697678)
2010
17
Treatment of intractable abdominal pain patient with Bannayan-Riley-Ruvalcaba syndrome using spinal cord stimulation. (19813502)
2009
18
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. (19321504)
2009
19
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. (18080326)
2008
20
Testicular hamartomas in a patient with Bannayan-Riley-Ruvalcaba syndrome. (18645085)
2008
21
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. (18499642)
2008
22
Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome. (18025323)
2007
23
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
24
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. (17033968)
2006
25
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. (16952599)
2006
26
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. (16894538)
2006
27
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. (17032868)
2006
28
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (16773562)
2006
29
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. (16909363)
2006
30
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. (16198785)
2005
31
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. (14574156)
2003
32
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
33
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. (12372056)
2002
34
Bannayan-Riley-Ruvalcaba syndrome: report of a family. (12117207)
2001
35
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. (11332402)
2001
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
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. (10679034)
2000
38
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. (10640930)
2000
39
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
40
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (10400993)
1999
41
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
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
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (9856571)
1998
44
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. (9661881)
1998
45
Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. (9352843)
1997
46
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. (9286463)
1997
47
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. (8859033)
1996
48
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome. (7977472)
1994
49
Bannayan-Riley-Ruvalcaba syndrome. (1336932)
1992
50
Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity. (2309773)
1990

Variations for Ruvalcaba Syndrome

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Expression for genes affiliated with Ruvalcaba Syndrome

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Search GEO for disease gene expression data for Ruvalcaba Syndrome.

Pathways for genes affiliated with Ruvalcaba Syndrome

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GO Terms for genes affiliated with Ruvalcaba Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1peptidyl-tyrosine dephosphorylationGO:003533510.0DUSP13, PTEN
2protein dephosphorylationGO:000647010.0DUSP13, PTEN
3response to drugGO:00424939.0HADHA, PTEN

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

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine phosphatase activityGO:00047259.8DUSP13, PTEN
2protein tyrosine/serine/threonine phosphatase activityGO:00081389.3DUSP13, PTEN

Sources for Ruvalcaba Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet