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 proteus syndrome, somatic, 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 skin.

Related Diseases for Ruvalcaba Syndrome

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Graphical network of the top 20 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, Skin, Testes, Breast, Hypothalamus, Pituitary

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 52)
idTitleAuthorsYear
1
Identification of Deleterious SNPs and Their Effects on Structural Level in CHRNA3 Gene. (26002565)
2015
2
International Biological Engagement Programs Facilitate Newcastle Disease Epidemiological Studies. (26539424)
2015
3
Large-scaled metabolic profiling of human dermal fibroblasts derived from pseudoxanthoma elasticum patients and healthy controls. (25265166)
2014
4
Treatment of enterococcal peritonitis with intraperitoneal daptomycin in a vancomycin-allergic patient and a review of the literature. (23843587)
2013
5
Different modes of IgE binding to CD23 revealed with major birch allergen, Bet v 1-specific monoclonal IgE. (23229638)
2013
6
Intracranial hypertension presenting with severe visual failure, without concurrent headache, in a child with nephrotic syndrome. (24112785)
2013
7
Hypopituitarism as the presenting feature of bronchogenic carcinoma with metastases to the pituitary gland. (23776875)
2013
8
Intravascular ultrasound and fractional flow reserve in assessment of the intermediate coronary stenosis: what you see is not what you get. (23352779)
2013
9
Norrie disease: first mutation report and prenatal diagnosis in an Indian family. (22674248)
2012
10
Transcriptional activation of breast cancer-associated gene 2 by estrogen receptor. (22850893)
2012
11
Suppression of homeobox transcription factor VentX promotes expansion of human hematopoietic stem/multipotent progenitor cells. (22791709)
2012
12
Substrate specificity and inhibition of human kallikrein-related peptidase 3 (KLK3 or PSA) activated with sodium citrate and glycosaminoglycans. (20371359)
2010
13
Gq protein mediates UVB-induced cyclooxygenase-2 expression by stimulating HB-EGF secretion from HaCaT human keratinocytes. (20117092)
2010
14
Moderate acute cholecystitis: to cut now or to cut later. (20002938)
2009
15
Effect of polycythemia on hypoxia induced pulmonary hypertension and pulmonary vascular remodeling in rats]. (19764557)
2009
16
Haptoglobin, serum amyloid-a and ceruloplasmin concentrations in goats with mixed helminth infection]. (18985576)
2008
17
Regulatory mechanism of Bcl-2 in uterine leiomyomas. (19205434)
2008
18
Focal uptake in the capitate bone secondary to erosive seronegative arthropathy misdiagnosed as fracture. (18806577)
2008
19
Observations favouring the occurrence of local production and marked effects of bombesin/gastrin-releasing peptide in the synovial tissue of the human knee joint--comparisons with substance P and the NK-1 receptor. (18289674)
2008
20
Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls. (17828789)
2007
21
Distribution of galanin receptor-2 immunoreactive neurones in the ovine hypothalamus: no evidence for involvement in the control of gonadotrophin-releasing hormone secretion. (18001326)
2007
22
Enhanced phosphorylation of transcription factor sp1 in response to herpes simplex virus type 1 infection is dependent on the ataxia telangiectasia-mutated protein. (17609267)
2007
23
PYY and the pancreas: inhibition of tumor growth and inflammation. (17194501)
2007
24
Impact of reduced meal frequency without caloric restriction on glucose regulation in healthy, normal-weight middle-aged men and women. (17998028)
2007
25
Permanent atrial fibrillation ablation surgery in CABG and aortic valve patients is at least as effective as in mitral valve disease. (16541348)
2006
26
Anesthesia for radical prostatectomy. (16673607)
2005
27
Mutation of the von Hippel-Lindau (VHL) gene in human colorectal carcinoma: association with cytoplasmic accumulation of hypoxia-inducible factor (HIF)-1alpha. (14965365)
2004
28
A single amino acid change (E85K) in human PCNA that leads, relative to wild type, to enhanced DNA synthesis by DNA polymerase delta past nucleotide base lesions (TLS) as well as on unmodified templates. (15595847)
2004
29
Embryonal rhabdomyosarcoma of the orbit in a liver transplant recipient. (12819877)
2003
30
Analysis of CHK2 in patients with myelodysplastic syndromes. (12363465)
2002
31
Pathogenesis of paralytic ileus: intestinal manipulation opens a transient pathway between the intestinal lumen and the leukocytic infiltrate of the jejunal muscularis. (11753040)
2002
32
Genomic organization of the JEM-1 (BLZF1) gene on human chromosome 1q24: molecular cloning and analysis of its promoter region. (11056056)
2000
33
Meningococcal infection in pilgrims returning from the Haj. (10769945)
2000
34
Black intraocular lens for leukocoria. (11008059)
2000
35
Paraneoplastic thrombocytosis-induced systemic thromboembolism in a cat. (10580907)
1999
36
Chronology of labyrinthitis ossificans induced by Streptococcus pneumoniae meningitis. (10369285)
1999
37
The binding site for UCH-L3 on ubiquitin: mutagenesis and NMR studies on the complex between ubiquitin and UCH-L3. (10518943)
1999
38
Evaluating antibodies for their capacity to induce cell-mediated lysis of malignant B cells. (9679970)
1998
39
Differential expression of human metallothionein isoform I mRNA in human proximal tubule cells exposed to metals. (9831543)
1998
40
Dopamine inactivates tryptophan hydroxylase and forms a redox-cycling quinoprotein: possible endogenous toxin to serotonin neurons. (9736634)
1998
41
Renpenning syndrome maps to Xp11. (9545405)
1998
42
A Scottish family with Bazex-DuprAc-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma. (8782050)
1996
43
Duodenitis--distinguishing features in a retrospective endoscopic and histological study. (7721239)
1994
44
Identification of a functional thyroid hormone response element in the upstream flanking region of the human Na,K-ATPase beta 1 gene. (8392703)
1993
45
Congenital heart block in one of the HLA identical twins. (8282145)
1993
46
Recombinant human beta-nerve growth factor (NGF): biological activity and properties in an enzyme immunoassay. (2079723)
1990
47
Clinical study of 9 familial atrial fibrillation cases. (6414778)
1983
48
Thyrotropin, total thyroxine, thyroxine binding capacity and free thyroxine index in patients with gonadal dysgenesis (karyotype 45/XO). (6181987)
1982
49
Encephalomalacia simulating the clinical and radiological aspects of brain tumor; a report of 6 cases. (13346403)
1956
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