MCID: RVL002
MIFTS: 46

Ruvalcaba Syndrome malady

Rare diseases, Neuronal diseases, Fetal diseases categories
Download this MalaCard

Summaries for Ruvalcaba Syndrome

About this section


Fully expand this MalaCard
MalaCards based summary: Ruvalcaba Syndrome is related to bannayan-riley-ruvalcaba syndrome and juvenile polyposis syndrome, and has symptoms including microcephaly, downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures and ptosis. An important gene associated with Ruvalcaba Syndrome is PTEN (phosphatase and tensin homolog), and among its related pathways is Inositol phosphate metabolism. The compounds phosphatidylinositol 3-phosphate and cetuximab have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and kidney.

Description from OMIM:46 180870

Aliases & Classifications for Ruvalcaba Syndrome

About this section
Sources:
42NIH Rare Diseases, 48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Ruvalcaba Syndrome, Aliases & Descriptions:

Name: Ruvalcaba Syndrome 42 48 46 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
ruvalcaba syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy


External Ids:

OMIM46 180870
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C0265248

Related Diseases for Ruvalcaba Syndrome

About this section

Graphical network of the top 20 diseases related to Ruvalcaba Syndrome:



Diseases related to ruvalcaba syndrome

Symptoms for Ruvalcaba Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

180870

Clinical features from OMIM:

180870

Symptoms:

48 (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 58)
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 the vertebral epiphyses typical (50%) HP:0100734
26 abnormal electroretinogram occasional (7.5%) HP:0000512
27 abnormality of vision 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 autosomal dominant inheritance HP:0000006
36 inguinal hernia HP:0000023
37 cryptorchidism HP:0000028
38 microcephaly HP:0000252
39 underdeveloped nasal alae HP:0000430
40 narrow nose HP:0000460
41 downslanted palpebral fissures HP:0000494
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 central tapetoretinal dystrophy HP:0007982
55 short phalanx of finger HP:0009803
56 short metacarpal HP:0010049
57 short metatarsal HP:0010743
58 small hand HP:0200055

Drugs & Therapeutics for Ruvalcaba Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Ruvalcaba Syndrome

Search NIH Clinical Center for Ruvalcaba Syndrome

Genetic Tests for Ruvalcaba Syndrome

About this section

Anatomical Context for Ruvalcaba Syndrome

About this section

MalaCards organs/tissues related to Ruvalcaba Syndrome:

32
Testes, Bone, Kidney, Skin, Thyroid, Breast, Spinal cord

Animal Models for Ruvalcaba Syndrome or affiliated genes

About this section

Publications for Ruvalcaba Syndrome

About this section

Articles related to Ruvalcaba Syndrome:

(show all 50)
idTitleAuthorsYear
1
Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome. (25008800)
2014
2
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. (23662932)
2013
3
Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy. (23783019)
2013
4
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients. (23907246)
2013
5
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. (24474112)
2013
6
Thyroid involvement in two patients with bannayan-riley-ruvalcaba syndrome. (24379037)
2013
7
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. (22911484)
2012
8
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. (22327138)
2012
9
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
10
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. (21659347)
2011
11
Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome. (21856113)
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
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. (16909363)
2006
27
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. (16198785)
2005
28
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. (14574156)
2003
29
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
30
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. (12372056)
2002
31
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. (11332402)
2001
32
Bannayan-Riley-Ruvalcaba syndrome: report of a family. (12117207)
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
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
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome. (7977472)
1994
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: autosomal dominant inheritance. (6517098)
1984
50
Ruvalcaba syndrome: a case report. (6489381)
1984

Variations for Ruvalcaba Syndrome

About this section

Expression for genes affiliated with Ruvalcaba Syndrome

About this section
Expression patterns in normal tissues for genes affiliated with Ruvalcaba Syndrome

Search GEO for disease gene expression data for Ruvalcaba Syndrome.

Pathways for genes affiliated with Ruvalcaba Syndrome

About this section

Pathways related to Ruvalcaba Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis37
inositol pyrophosphates biosynthesis37
D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis37
9.9MINPP1, PTEN

Compounds for genes affiliated with Ruvalcaba Syndrome

About this section

Compounds related to Ruvalcaba Syndrome according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1phosphatidylinositol 3-phosphate4410.0CDKN3, PTEN
2cetuximab44 50 1112.0PTEN, CDKN3
3bicalutamide44 61 1112.0CDKN3, PTEN
4gsno4410.0CDKN3, PTEN
5erlotinib44 50 1111.9CDKN3, PTEN
6cl 100449.9DUSP13, CDKN3
7calyculin a44 61 1111.8CDKN3, PTEN
8trastuzumab44 50 1111.7CDKN3, PTEN
9erbstatin449.7CDKN3, PTPN3
10p-nitrophenyl phosphate449.7CDKN3, PTPN3
11sodium fluoride449.7CDKN3, PTPN3
12phosphoserine44 2410.7CDKN3, DUSP13
13gefitinib44 50 1111.7CDKN3, PTEN
14sodium orthovanadate44 6110.6PTPN3, CDKN3
15phenylarsine oxide449.6PTPN3, CDKN3
16fluoride449.6CDKN3, PTPN3
17okadaic acid44 6110.4CDKN3, PTEN, PTPN3
18phosphothreonine449.3CDKN3, DUSP13, PTPN3
19wortmannin449.3PTPN3, PTEN, CDKN3
20genistein44 28 61 2 24 1114.2PTPN3, PTEN, CDKN3
21vanadate449.2CDKN3, PTPN3
22inositol449.1PTPN3, PTEN, MINPP1, CDKN3
23phosphoinositide449.1HADHA, PTPN3, PTEN, CDKN3
24alanine449.0CDKN3, PTEN, PTPN3, HADHA
25phosphotyrosine449.0PTPN3, PTEN, DUSP13, CDKN3
26h2o2449.0PTPN3, PTEN, DUSP13, CDKN3
27phosphatidylinositol449.0PTPN3, PTEN, DUSP13, CDKN3
28atp44 2810.0CDKN3, PTEN, PTPN3, HADHA
29cysteine448.9PTPN3, PTEN, DUSP13, CDKN3
30lipid448.8HADHA, PTPN3, PTEN, DUSP13
31aspartate448.7CDKN3, PTEN, PTPN3
32Phosphate248.7PTPN3, PTEN, DUSP13, MINPP1, CDKN3
33calcium44 50 24 1111.4HADHA, PTPN3, PTEN, DUSP13, CDKN3
34Water248.4CDKN3, MINPP1, DUSP13, PTEN, PTPN3, HADHA
35threonine448.3HADHA, PTPN3, PTEN, DUSP13, BMPR1A, CDKN3
36serine448.3HADHA, PTPN3, PTEN, DUSP13, BMPR1A, CDKN3

GO Terms for genes affiliated with Ruvalcaba Syndrome

About this section

Cellular components related to Ruvalcaba Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic side of plasma membraneGO:0098989.3PTEN, PTPN3
2cytoplasmGO:0057377.3CDKN3, STK11IP, DUSP13, PTEN, PTPN3, TNS1

Biological processes related to Ruvalcaba Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of cyclin-dependent protein serine/threonine kinase activityGO:0000799.7CDKN3, PTEN
2inositol phosphate metabolic processGO:0436479.6MINPP1, PTEN
3protein dephosphorylationGO:0064709.0PTPN3, PTEN, DUSP13
4peptidyl-tyrosine dephosphorylationGO:0353359.0CDKN3, PTEN, PTPN3

Molecular functions related to Ruvalcaba Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine phosphatase activityGO:0047229.7CDKN3, PTEN
2protein tyrosine/serine/threonine phosphatase activityGO:0081388.9CDKN3, DUSP13, PTEN
3protein tyrosine phosphatase activityGO:0047258.5CDKN3, DUSP13, PTEN, PTPN3

Products for genes affiliated with Ruvalcaba Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Ruvalcaba Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet