MCID: RVL002
MIFTS: 32

Ruvalcaba Syndrome malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ruvalcaba Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ruvalcaba Syndrome:

Name: Ruvalcaba Syndrome 50 46 52 66

Characteristics:

Orphanet epidemiological data:

52
ruvalcaba syndrome:
Age of onset: Infancy,Neonatal

HPO:

62
ruvalcaba syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 180870
Orphanet52 ORPHA3121
ICD10 via Orphanet29 Q87.8
UMLS via Orphanet67 C0265248

Summaries for Ruvalcaba Syndrome

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MalaCards based summary: Ruvalcaba Syndrome is related to bannayan-riley-ruvalcaba syndrome and cowden disease, 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, breast and skin.

Description from OMIM:50 180870

Related Diseases for Ruvalcaba Syndrome

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Graphical network of diseases related to Ruvalcaba Syndrome:



Diseases related to ruvalcaba syndrome

Symptoms for Ruvalcaba Syndrome

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Symptoms by clinical synopsis from OMIM:

180870

Clinical features from OMIM:

180870

Symptoms:

 52 (show all 36)
  • inguinal hernia
  • cryptorchidism
  • narrow mouth
  • thin vermilion border
  • microcephaly
  • high forehead
  • convex nasal ridge
  • downslanted palpebral fissures
  • ptosis
  • abnormal electroretinogram
  • abnormality of vision evoked potentials
  • dental crowding
  • pectus carinatum
  • narrow chest
  • hematuria
  • delayed puberty
  • hypopigmented skin patches
  • brachydactyly syndrome
  • intellectual disability
  • seizures
  • global developmental delay
  • intrauterine growth retardation
  • generalized hirsutism
  • scoliosis
  • kyphosis
  • micromelia
  • short nose
  • clinodactyly of the 5th finger
  • synostosis of carpal bones
  • proximal placement of thumb
  • abnormality of the elbow
  • short metacarpal
  • cone-shaped epiphysis
  • abnormal localization of kidney
  • abnormality of vertebral epiphysis morphology
  • small hand

HPO human phenotypes related to Ruvalcaba Syndrome:

(show all 57)
id Description Frequency HPO Source Accession
1 narrow mouth hallmark (90%) HP:0000160
2 abnormality of the teeth hallmark (90%) HP:0000164
3 thin vermilion border hallmark (90%) HP:0000233
4 microcephaly hallmark (90%) HP:0000252
5 convex nasal ridge hallmark (90%) HP:0000444
6 downslanted palpebral fissures hallmark (90%) HP:0000494
7 ptosis hallmark (90%) HP:0000508
8 brachydactyly syndrome hallmark (90%) HP:0001156
9 abnormality of the metacarpal bones hallmark (90%) HP:0001163
10 kyphosis hallmark (90%) HP:0002808
11 micromelia hallmark (90%) HP:0002983
12 short nose hallmark (90%) HP:0003196
13 short palm hallmark (90%) HP:0004279
14 synostosis of carpal bones hallmark (90%) HP:0005048
15 proximal placement of thumb hallmark (90%) HP:0009623
16 cone-shaped epiphysis hallmark (90%) HP:0010579
17 cognitive impairment hallmark (90%) HP:0100543
18 cryptorchidism typical (50%) HP:0000028
19 high forehead typical (50%) HP:0000348
20 pectus carinatum typical (50%) HP:0000768
21 narrow chest typical (50%) HP:0000774
22 intrauterine growth retardation typical (50%) HP:0001511
23 scoliosis typical (50%) HP:0002650
24 abnormality of the elbow typical (50%) HP:0009811
25 abnormality of vertebral epiphysis morphology typical (50%) HP:0100734
26 abnormal electroretinogram occasional (7.5%) HP:0000512
27 abnormality of visual evoked potentials occasional (7.5%) HP:0000649
28 hematuria occasional (7.5%) HP:0000790
29 hypertrichosis occasional (7.5%) HP:0000998
30 hypopigmented skin patches occasional (7.5%) HP:0001053
31 seizures occasional (7.5%) HP:0001250
32 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
33 hernia of the abdominal wall occasional (7.5%) HP:0004299
34 abnormal localization of kidney occasional (7.5%) HP:0100542
35 inguinal hernia HP:0000023
36 cryptorchidism HP:0000028
37 microcephaly HP:0000252
38 underdeveloped nasal alae HP:0000430
39 narrow nose HP:0000460
40 downslanted palpebral fissures HP:0000494
41 retinal dystrophy HP:0000556
42 dental crowding HP:0000678
43 abnormality of the breast HP:0000769
44 narrow chest HP:0000774
45 delayed puberty HP:0000823
46 intellectual disability HP:0001249
47 limited elbow extension HP:0001377
48 short foot HP:0001773
49 scoliosis HP:0002650
50 kyphosis HP:0002808
51 micromelia HP:0002983
52 short palm HP:0004279
53 short stature HP:0004322
54 short phalanx of finger HP:0009803
55 short metacarpal HP:0010049
56 short metatarsal HP:0010743
57 small hand HP:0200055

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:

34
Bone, Breast, Skin, Kidney, Thyroid, Spinal cord

Animal Models for Ruvalcaba Syndrome or affiliated genes

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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
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. (16198785)
2005
29
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. (14574156)
2003
30
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. (12372056)
2002
31
Bannayan-Riley-Ruvalcaba syndrome: report of a family. (12117207)
2001
32
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. (11332402)
2001
33
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. (11536076)
2001
34
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. (10679034)
2000
35
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. (10640930)
2000
36
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
37
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (10400993)
1999
38
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
39
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
40
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (9856571)
1998
41
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. (9661881)
1998
42
Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. (9352843)
1997
43
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. (9286463)
1997
44
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. (8859033)
1996
45
Bannayan-Riley-Ruvalcaba syndrome. (1336932)
1992
46
Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity. (2309773)
1990
47
Apparent Ruvalcaba syndrome with genitourinary abnormalities. (2679089)
1989
48
Ruvalcaba syndrome. (4025405)
1985
49
Ruvalcaba syndrome: a case report. (6489381)
1984
50
Ruvalcaba syndrome: autosomal dominant inheritance. (6517098)
1984

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:00353359.5DUSP13, PTEN
2protein dephosphorylationGO:00064709.5DUSP13, 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:00047259.3DUSP13, PTEN
2protein tyrosine/serine/threonine phosphatase activityGO:00081389.0DUSP13, PTEN

Sources for Ruvalcaba Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet