MCID: RVL002
MIFTS: 42

Ruvalcaba Syndrome

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ruvalcaba Syndrome

MalaCards integrated aliases for Ruvalcaba Syndrome:

Name: Ruvalcaba Syndrome 57 20 58 70

Characteristics:

Orphanet epidemiological data:

58
ruvalcaba syndrome
Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
ruvalcaba syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Ruvalcaba Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3121 Definition Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.

MalaCards based summary : Ruvalcaba Syndrome is related to cowden syndrome 1 and cowden syndrome. An important gene associated with Ruvalcaba Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Gastric cancer and Glioma. Affiliated tissues include kidney, breast and thyroid, and related phenotypes are intellectual disability and ptosis

More information from OMIM: 180870

Related Diseases for Ruvalcaba Syndrome

Diseases related to Ruvalcaba Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 149)
# Related Disease Score Top Affiliating Genes
1 cowden syndrome 1 32.2 PTEN BRCA2 BRCA1 BMPR1A
2 cowden syndrome 30.8 PTEN DUSP13 BRCA2 BRCA1 BMPR1A
3 juvenile polyposis of infancy 30.0 PTEN BMPR1A
4 chromosome 10q23 deletion syndrome 30.0 PTEN BMPR1A
5 juvenile polyposis syndrome 29.7 PTEN DUSP13 BMPR1A
6 tumor predisposition syndrome 10.4
7 cutaneous telangiectasia and cancer syndrome, familial 10.4
8 inherited cancer-predisposing syndrome 10.4
9 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4
10 intestinal polyposis syndrome 10.3
11 lipomatosis, multiple 10.3
12 hemangioma 10.3
13 pleomorphic lipoma 10.2
14 overgrowth syndrome 10.2
15 lipomatosis 10.2
16 thyroiditis 10.2
17 large intestine lipoma 10.1 PTEN BMPR1A
18 lipoma of colon 10.1 PTEN BMPR1A
19 macrocephaly/autism syndrome 10.1
20 myopathy 10.1
21 endometrial serous adenocarcinoma 10.1 PTEN BRCA1
22 penile disease 10.1 PTEN BMPR1A
23 hereditary mixed polyposis syndrome 10.0 PTEN BMPR1A
24 acanthosis nigricans 10.0
25 hashimoto thyroiditis 10.0
26 lentigines 10.0
27 trichorhinophalangeal syndrome, type iii 10.0
28 autism 10.0
29 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 10.0
30 alacrima, achalasia, and mental retardation syndrome 10.0
31 hypotonia 10.0
32 thyroid carcinoma 10.0
33 familial colorectal cancer type x 10.0 BRCA2 BMPR1A
34 fallopian tube clear cell adenocarcinoma 10.0 BRCA2 BRCA1
35 childhood t-cell acute lymphoblastic leukemia 10.0 PTEN BRCA2
36 ovary transitional cell carcinoma 10.0 BRCA2 BRCA1
37 basaloid lung carcinoma 10.0 BRCA2 BRCA1
38 glial tumor 10.0 PTEN BRCA2
39 cancerophobia 10.0 BRCA2 BRCA1
40 nosophobia 10.0 BRCA2 BRCA1
41 tetraploidy 10.0 BRCA2 BRCA1
42 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 10.0 BRCA2 BRCA1
43 familial ovarian cancer 10.0 BRCA2 BRCA1
44 hereditary site-specific ovarian cancer syndrome 10.0 BRCA2 BRCA1
45 cystadenoma 10.0 PTEN BRCA1
46 breast-ovarian cancer, familial 2 10.0 BRCA2 BRCA1
47 intracystic papillary adenoma 10.0 BRCA2 BRCA1
48 endosalpingiosis 10.0 BRCA2 BRCA1
49 cervical adenoma malignum 10.0 BRCA2 BRCA1
50 mutagen sensitivity 10.0 BRCA2 BRCA1

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



Diseases related to Ruvalcaba Syndrome

Symptoms & Phenotypes for Ruvalcaba Syndrome

Human phenotypes related to Ruvalcaba Syndrome:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
3 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
6 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
7 dental crowding 58 31 hallmark (90%) Very frequent (99-80%) HP:0000678
8 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
9 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
10 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
11 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
12 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
13 small hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0200055
14 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
15 proximal placement of thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009623
16 synostosis of carpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0005048
17 short metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010049
18 cone-shaped epiphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010579
19 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
20 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
21 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
22 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
23 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
24 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
25 abnormality of the elbow 58 31 frequent (33%) Frequent (79-30%) HP:0009811
26 abnormality of vertebral epiphysis morphology 58 31 frequent (33%) Frequent (79-30%) HP:0100734
27 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
28 abnormality of visual evoked potentials 58 31 occasional (7.5%) Occasional (29-5%) HP:0000649
29 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
30 abnormal electroretinogram 58 31 occasional (7.5%) Occasional (29-5%) HP:0000512
31 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
32 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
33 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
34 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
35 abnormal localization of kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0100542
36 seizure 31 occasional (7.5%) HP:0001250
37 seizures 58 Occasional (29-5%)
38 short stature 31 HP:0004322
39 underdeveloped nasal alae 31 HP:0000430
40 short foot 31 HP:0001773
41 short palm 31 HP:0004279
42 retinal dystrophy 31 HP:0000556
43 short phalanx of finger 31 HP:0009803
44 short metatarsal 31 HP:0010743
45 limited elbow extension 31 HP:0001377
46 abnormality of the breast 31 HP:0000769
47 narrow nose 31 HP:0000460

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis

Head And Neck Head:
microcephaly

Endocrine Features:
delayed puberty

Chest External Features:
narrow chest

Head And Neck Eyes:
downslanting palpebral fissures
central tapetoretinal dystrophy

Skeletal Feet:
short metatarsals
small feet

Skeletal Limbs:
short limbs
limitation of elbow extension
prominent elbows

Chest Breasts:
large areolae

Genitourinary External Genitalia Male:
inguinal hernia

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Nose:
narrow nose
hypoplastic alae nasi

Skeletal Hands:
short metacarpals
short phalanges
small hands

Neurologic Central Nervous System:
mental retardation

Head And Neck Teeth:
crowded teeth

Clinical features from OMIM®:

180870 (Updated 05-Apr-2021)

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.3 BMPR1A DUSP13
2 Decreased viability GR00221-A-2 10.3 BMPR1A BRCA1 DUSP13
3 Decreased viability GR00221-A-3 10.3 BMPR1A BRCA1 DUSP13
4 Decreased viability GR00221-A-4 10.3 BMPR1A
5 Decreased viability GR00249-S 10.3 BMPR1A
6 Decreased viability GR00301-A 10.3 BRCA1
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.32 BRCA1 BRCA2 DUSP13 PTEN
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.32 BRCA1 BRCA2 DUSP13 PTEN
9 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.32 BRCA1 BRCA2
10 Decreased viability with cisplatin GR00101-A-4 9.16 BRCA1 BRCA2
11 Synthetic lethal with cisplatin GR00101-A-1 8.96 BRCA1 BRCA2

MGI Mouse Phenotypes related to Ruvalcaba Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.65 BMPR1A BRCA1 BRCA2 HADHA PTEN
2 digestive/alimentary MP:0005381 9.62 BMPR1A BRCA1 BRCA2 PTEN
3 endocrine/exocrine gland MP:0005379 9.55 BMPR1A BRCA1 BRCA2 DUSP13 PTEN
4 limbs/digits/tail MP:0005371 9.26 BMPR1A BRCA1 BRCA2 PTEN
5 neoplasm MP:0002006 8.92 BMPR1A BRCA1 BRCA2 PTEN

Drugs & Therapeutics for Ruvalcaba Syndrome

Search Clinical Trials , NIH Clinical Center for Ruvalcaba Syndrome

Genetic Tests for Ruvalcaba Syndrome

Anatomical Context for Ruvalcaba Syndrome

MalaCards organs/tissues related to Ruvalcaba Syndrome:

40
Kidney, Breast, Thyroid, Brain, Spinal Cord, Colon, Ovary

Publications for Ruvalcaba Syndrome

Articles related to Ruvalcaba Syndrome:

(show top 50) (show all 144)
# Title Authors PMID Year
1
Ruvalcaba syndrome revisited. 57 61
20583188 2010
2
Ruvalcaba syndrome. 57 61
4025405 1985
3
Ruvalcaba syndrome: autosomal dominant inheritance. 57 61
6517098 1984
4
Ruvalcaba syndrome: a case report. 61 57
6489381 1984
5
The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III. 57
3740106 1986
6
A new familial syndrome with osseous dysplasia and mental dificiency. 57
5567967 1971
7
Toward Systems Pathology for PTEN Diagnostics. 61
31615872 2020
8
Imaging of PTEN-related abnormalities in the central nervous system. 61
31927175 2020
9
Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia. 61
31971667 2020
10
PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature. 61
31609537 2019
11
Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome. 61
31564436 2019
12
Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A. 61
31062505 2019
13
Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature. 61
31124053 2019
14
PTEN Hamartoma Tumor Syndrome: A Clinical Overview. 61
31216739 2019
15
Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome. 61
31603075 2019
16
PTEN Mutation Identified in Patient Diagnosed with Simultaneous Multiple Cancers. 61
29510612 2019
17
Lichen planus hypertrophicus-inversus occurring in a patient with Bannayan-Riley-Ruvalcaba syndrome. 61
29512180 2018
18
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. 61
29684080 2018
19
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. 61
29444762 2018
20
A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty. 61
29194042 2018
21
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 61
28677221 2017
22
Say What? Bannayan-Riley-Ruvalcaba Syndrome Presenting with Gastrointestinal Bleeding Due to Hamartoma-Induced Intussusception. 61
28168574 2017
23
Breast cancer risk and clinical implications for germline PTEN mutation carriers. 61
26700035 2017
24
Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report. 61
28401059 2017
25
De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis. 61
28523199 2017
26
Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome. 61
29263846 2017
27
Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. 61
29168369 2017
28
A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review. 61
26228616 2016
29
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. 61
27535890 2016
30
Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. 61
27358095 2016
31
Phosphatase and Tensin Homolog Hamartoma Tumor Syndrome: A Case Report. 61
32689721 2016
32
Lhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter. 61
27543776 2016
33
Current status of familial gastrointestinal polyposis syndromes. 61
26600934 2015
34
Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome. 61
26185318 2015
35
Bannayan-Riley-Ruvalcaba syndrome: an uncommon case of hematochezia in a 3-year-old boy. 61
23783019 2015
36
Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome. 61
25008800 2015
37
Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome. 61
25549896 2015
38
PTEN hamartoma tumor syndrome. 61
26564076 2015
39
Cowden syndrome: what oncology nurses need to know about increased risk of developing certain cancers. 61
25158662 2014
40
Oral manifestations of phosphatase and tensin homolog hamartoma tumor syndrome: a report of three cases. 61
25170002 2014
41
Bannayan-Riley-Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients. 61
23907246 2014
42
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. 61
24474112 2013
43
PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol. 61
24123798 2013
44
Cognitive characteristics of PTEN hamartoma tumor syndromes. 61
23470840 2013
45
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. 61
23662932 2013
46
An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing. 61
23299532 2013
47
A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome. 61
22993021 2013
48
Cutaneous manifestations of gastrointestinal disease: part I. 61
23317980 2013
49
Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling. 61
23124040 2013
50
Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome. 61
23886400 2013

Variations for Ruvalcaba Syndrome

Expression for Ruvalcaba Syndrome

Search GEO for disease gene expression data for Ruvalcaba Syndrome.

Pathways for Ruvalcaba Syndrome

Pathways related to Ruvalcaba Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 PTEN BRCA2 BRCA1
2
Show member pathways
11.93 PTEN BRCA2 BRCA1
3 11.4 BRCA2 BRCA1
4 11.36 PTEN BRCA1
5
Show member pathways
11.29 BRCA2 BRCA1
6 11.11 PTEN BRCA2 BRCA1 BMPR1A
7 11.08 PTEN BRCA1
8 10.62 PTEN BRCA1

GO Terms for Ruvalcaba Syndrome

Cellular components related to Ruvalcaba Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral element GO:0000800 8.62 BRCA2 BRCA1

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

# Name GO ID Score Top Affiliating Genes
1 double-strand break repair via homologous recombination GO:0000724 9.32 BRCA2 BRCA1
2 double-strand break repair GO:0006302 9.26 BRCA2 BRCA1
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.16 BRCA2 BRCA1
4 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 8.96 BRCA2 BRCA1
5 chordate embryonic development GO:0043009 8.62 BRCA2 BRCA1

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine/serine/threonine phosphatase activity GO:0008138 8.62 PTEN DUSP13

Sources for Ruvalcaba Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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