MCID: RVL002
MIFTS: 32

Ruvalcaba Syndrome malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ruvalcaba Syndrome

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ruvalcaba Syndrome:

Name: Ruvalcaba Syndrome 45 51 65

Characteristics:

Orphanet epidemiological data:

51
ruvalcaba syndrome:
Inheritance: X-linked dominant; Age of onset: Infancy,Neonatal


Classifications:



External Ids:

Orphanet51 3121
ICD10 via Orphanet28 Q87.8
UMLS via Orphanet66 C0265248
UMLS65 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 cognitive impairment, cone-shaped epiphysis and proximal placement of thumb. 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, kidney and testes.

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:

 51 (show all 35)
  • microcephaly
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • ptosis
  • short/small nose
  • beaked nose
  • microstomia/little mouth
  • thin/retracted lips
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • kyphosis
  • short limbs/micromelia/brachymelia
  • carpal bones fusion/synostosis
  • short hand/brachydactyly
  • small hand/acromicria
  • metacarpal anomalies/archibald's sign
  • proximally set thumb
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • cone epiphyses/epiphysis
  • high forehead
  • narrow rib cage/thorax
  • pectus carinatum
  • scoliosis
  • epiphyseal vertebral anomaly
  • elbow anomalies(excluding luxation)
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • intrauterine growth retardation
  • abnormal erg/electroretinogram/electroretinography
  • abnormal vep/visual evoked potential
  • inguinal/inguinoscrotal/crural hernia
  • clinodactyly of fifth finger
  • irregular/patchy skin hypopigmentation
  • hirsutism/hypertrichosis/increased body hair
  • ectopic/horseshoe/fused kidneys
  • hematuria/microhematuria
  • late puberty/hypogonadism/hypogenitalism
  • seizures/epilepsy/absences/spasms/status epilepticus

HPO human phenotypes related to Ruvalcaba Syndrome:

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

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:

33
Bone, Kidney, Testes, Skin, Breast, Prostate, Hypothalamus

Animal Models for Ruvalcaba Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Ruvalcaba Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Ruvalcaba Syndrome

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Articles related to Ruvalcaba Syndrome:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review. (26228616)
2015
2
Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome. (25008800)
2014
3
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. (23662932)
2013
4
Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy. (23783019)
2013
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
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. (22911484)
2012
9
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. (22327138)
2012
10
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
11
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. (21659347)
2011
12
Ruvalcaba syndrome revisited. (20583188)
2010
13
Bannayan Riley Ruvalcaba syndrome. (20697678)
2010
14
Treatment of intractable abdominal pain patient with Bannayan-Riley-Ruvalcaba syndrome using spinal cord stimulation. (19813502)
2009
15
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. (19321504)
2009
16
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. (18080326)
2008
17
Testicular hamartomas in a patient with Bannayan-Riley-Ruvalcaba syndrome. (18645085)
2008
18
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. (18499642)
2008
19
Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome. (18025323)
2007
20
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
21
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. (17033968)
2006
22
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. (16952599)
2006
23
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. (17032868)
2006
24
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. (16894538)
2006
25
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (16773562)
2006
26
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. (16198785)
2005
27
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. (14574156)
2003
28
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
29
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. (12372056)
2002
30
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. (11332402)
2001
31
Bannayan-Riley-Ruvalcaba syndrome: report of a family. (12117207)
2001
32
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. (11536076)
2001
33
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. (10679034)
2000
34
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. (10640930)
2000
35
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
36
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
37
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
38
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (10400993)
1999
39
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. (9661881)
1998
40
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (9856571)
1998
41
Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. (9352843)
1997
42
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. (9286463)
1997
43
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. (8859033)
1996
44
Bannayan-Riley-Ruvalcaba syndrome. (1336932)
1992
45
Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity. (2309773)
1990
46
Apparent Ruvalcaba syndrome with genitourinary abnormalities. (2679089)
1989
47
Ruvalcaba syndrome. (4025405)
1985
48
Ruvalcaba syndrome: autosomal dominant inheritance. (6517098)
1984
49
Ruvalcaba syndrome: a case report. (6489381)
1984
50

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
1dephosphorylationGO:00163119.3DUSP13, PTEN
2peptidyl-tyrosine dephosphorylationGO:00353359.3DUSP13, PTEN

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055158.5DUSP13, HADHA, PTEN

Sources for Ruvalcaba Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet