MCID: RPD002
MIFTS: 43

Rapadilino Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Smell/Taste diseases categories

Summaries for Rapadilino Syndrome

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition.

MalaCards: Rapadilino Syndrome, also known as absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, is related to baller-gerold syndrome and leukemia, and has symptoms including lymphoma, sarcoma and vertebral segmentation anomaly/hemivertebrae. An important gene associated with Rapadilino Syndrome is RECQL4 (RecQ protein-like 4), and among its related pathways is Cell Cycle / Checkpoint Control. The compound hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotype cellular.

Wikipedia:66 Rapadilino syndrome is an autosomal recessivecongenital disorder characterized by radial and patellar... more...

Description from OMIM:48 266280

Aliases & Classifications for Rapadilino Syndrome

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
rapadilino syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

rapadilino syndrome 9 10 44 21 23 22 48 11 46 50 63
absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate 44 22
radial and patellar hypoplasia 44 22
radial and patellar aplasia 44 22


External Ids:

Disease Ontology9 DOID:0050774
OMIM48 266280
MESH via Orphanet37 C535288
ICD10 via Orphanet27 Q87.1
UMLS via Orphanet64 C1849453

Related Diseases for Rapadilino Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Rapadilino Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1baller-gerold syndrome30.1RECQL5, RECQL, RECQL4
2leukemia10.1
3lymphoblastic leukemia10.1
4osteosarcoma10.1
5cataract10.0RECQL4, WRN
6imperforate anus10.0UBR1
7johanson-blizzard syndrome10.0UBR2, UBR1
8rothmund-thomson syndrome9.9WRN, RECQL4, RECQL, RECQL5
9bloom syndrome9.9RECQL5, RECQL, RECQL4, WRN
10werner syndrome9.9WRN, RECQL4, RECQL, RECQL5

Graphical network of diseases related to Rapadilino Syndrome:



Diseases related to rapadilino syndrome

Symptoms for Rapadilino Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

266280

Clinical features from OMIM:

266280

Symptoms:

50 (show all 17)
  • lymphoma
  • sarcoma
  • vertebral segmentation anomaly/hemivertebrae
  • hearing loss/hypoacusia/deafness
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • hyperextensible joints/articular hyperlaxity
  • cafe-au-lait spot
  • high vaulted/narrow palate
  • intrauterine growth retardation
  • short stature/dwarfism/nanism
  • autosomal recessive inheritance
  • malabsorption/chronic diarrhea/steatorrhea
  • patella absent/abnormal (excluding luxation)
  • thumb hypoplasia/aplasia/absence
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • narrow nasal bridge

Drugs & Therapeutics for Rapadilino Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Rapadilino Syndrome

Drug clinical trials:

Search ClinicalTrials for Rapadilino Syndrome

Search NIH Clinical Center for Rapadilino Syndrome

Search CenterWatch for Rapadilino Syndrome

Genetic Tests for Rapadilino Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Rapadilino Syndrome:

id Genetic test Affiliating Genes
1 Rapadilino Syndrome21 23 RECQL4

Anatomical Context for Rapadilino Syndrome

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34MalaCards
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MalaCards organs/tissues related to Rapadilino Syndrome:

34
Bone

Animal Models for Rapadilino Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Rapadilino Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.1UBR1, UBR2, RECQL5, RECQL, RECQL4, WRN

Publications for Rapadilino Syndrome

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53PubMed
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Articles related to Rapadilino Syndrome:

idTitleAuthorsYear
1
Osteosarcoma following growth hormone therapy in recurrent acute lymphoblastic leukemia and Rapadilino syndrome. (22475304)
2012
2
RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. (15317757)
2004
3
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. (12952869)
2003
4
RAPADILINO syndrome: a multiple malformation syndrome with radial and patellar aplasia. (10413338)
1999
5
Rapadilino syndrome--a non-Finnish case. (9571286)
1998
6
RAPADILINO syndrome. (1481838)
1992
7
RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. (2801769)
1989

Variations for Rapadilino Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Rapadilino Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1RECQL4NM_004260.3(RECQL4): c.1390+2delTdeletionPathogenicrs386833843GRCh37Chr 8, 145740708: 145740708
2RECQL4NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter)single nucleotide variantLikely pathogenic, Pathogenicrs386833851GRCh37Chr 8, 145738509: 145738509
3RECQL4RECQL4, IVS7, 1-BP DEL, +2deletionPathogenic
4RECQL4RECQL4, GLU1091TERsingle nucleotide variantPathogenic
5RECQL4NM_004260.3(RECQL4): c.806G> A (p.Trp269Ter)single nucleotide variantPathogenicrs137853231GRCh37Chr 8, 145741697: 145741697

Expression for genes affiliated with Rapadilino Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Rapadilino Syndrome

Search GEO for disease gene expression data for Rapadilino Syndrome.

Pathways for genes affiliated with Rapadilino Syndrome

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51PathCards, 5Cell Signaling Technology
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Pathways related to Rapadilino Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.2RECQL5, RECQL, RECQL4, WRN

Compounds for genes affiliated with Rapadilino Syndrome

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46Novoseek, 52PharmGKB, 12DrugBank
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Compounds related to Rapadilino Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hydroxyurea46 52 1211.6RECQL4, WRN

GO Terms for genes affiliated with Rapadilino Syndrome

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17Gene Ontology
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Cellular components related to Rapadilino Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin ligase complexGO:0001519.1UBR1, UBR2
2nucleolusGO:0057308.1UBR2, RECQL5, RECQL, WRN

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cellular response to leucineGO:0712339.5UBR2, UBR1
2DNA strand renaturationGO:0007339.5RECQL, RECQL4
3negative regulation of TOR signalingGO:0320079.4UBR1, UBR2
4ubiquitin-dependent protein catabolic processGO:0065119.4UBR1, UBR2
5DNA metabolic processGO:0062599.1WRN, RECQL5
6DNA duplex unwindingGO:0325088.4RECQL5, RECQL, RECQL4, WRN
7DNA recombinationGO:0063108.3WRN, RECQL4, RECQL, RECQL5
8DNA repairGO:0062818.3RECQL5, RECQL, RECQL4
9DNA replicationGO:0062608.3RECQL5, RECQL, RECQL4, WRN

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1bubble DNA bindingGO:0004059.6RECQL4, WRN
2leucine bindingGO:0707289.5UBR2, UBR1
3annealing helicase activityGO:0363109.3RECQL, RECQL4
4ATP-dependent 3-5 DNA helicase activityGO:0431409.1WRN, RECQL4, RECQL
5ATP-dependent DNA helicase activityGO:0040039.1WRN, RECQL
6DNA helicase activityGO:0036788.7RECQL5, RECQL, WRN
7ATP bindingGO:0055248.2RECQL, WRN, RECQL5, RECQL4

Products for genes affiliated with Rapadilino Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rapadilino Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet