MCID: RPD002
MIFTS: 36

Rapadilino Syndrome malady

Bone, Fetal, Smell/Taste categories

Summaries for Rapadilino Syndrome

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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 rothmund-thomson syndrome, and has symptoms including narrow nasal bridge, radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray and thumb hypoplasia/aplasia/absence. An important gene associated with Rapadilino Syndrome is RECQL4 (RecQ protein-like 4), and among its related pathways is DNA Damage. The compound hydroxyurea have been mentioned in the context of this disorder. Related mouse phenotype cellular.

Wikipedia:64 Rapadilino syndrome is an autosomal recessivecongenital disorder characterized by radial and patellar... more...

Description from OMIM:47 266280

Aliases & Classifications for Rapadilino Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone, Smell/Taste


Characteristics (Orphanet epidemiological data):

49
rapadilino syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

rapadilino syndrome 8 9 43 20 22 21 47 10 45 49 61
absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate 43 21
radial and patellar hypoplasia 43 21
radial and patellar aplasia 43 21


External Ids:

Disease Ontology8 DOID:0050774
OMIM47 266280
MESH via Orphanet36 C535288
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet62 C1849453

Related Diseases for Rapadilino Syndrome

Sources:
17GeneCards, 18GeneDecks
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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, RECQL4, RECQL
2rothmund-thomson syndrome30.1WRN, RECQL, RECQL4, RECQL5
3acute leukemia10.1
4xeroderma pigmentosum10.0RECQL
5imperforate anus10.0UBR1
6johanson-blizzard syndrome10.0UBR2, UBR1
7bloom syndrome10.0WRN, RECQL, RECQL4, RECQL5
8werner syndrome10.0RECQL5, RECQL4, RECQL, WRN

Graphical network of diseases related to Rapadilino Syndrome:



Diseases related to rapadilino syndrome

Clinical Features for Rapadilino Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

266280

Clinical synopsis from OMIM:

266280

Symptoms:

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

Drugs & Therapeutics for Rapadilino Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
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Genetic tests related to Rapadilino Syndrome:

id Genetic test Affiliating Genes
1 Rapadilino Syndrome20 22 RECQL4

Anatomical Context for Rapadilino Syndrome

Animal Models for Rapadilino Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Rapadilino Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.1RECQL5, RECQL4, RECQL, WRN, UBR2, UBR1

Publications for Rapadilino Syndrome

Sources:
51PubMed
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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
A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. (15897384)
2005
3
RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. (15317757)
2004
4
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. (12952869)
2003
5
RAPADILINO syndrome: a multiple malformation syndrome with radial and patellar aplasia. (10413338)
1999
6
Rapadilino syndrome--a non-Finnish case. (9571286)
1998
7
RAPADILINO syndrome. (1481838)
1992
8
RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. (2801769)
1989

Genetic Variations for Rapadilino Syndrome

Expression for genes affiliated with Rapadilino Syndrome

Sources:
1BioGPS, 15Gene 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

Sources:
4Cell Signaling Technology
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Pathways related to Rapadilino Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
8.1RECQL5, RECQL4, RECQL, WRN

Compounds for genes affiliated with Rapadilino Syndrome

Sources:
45Novoseek, 50PharmGKB, 11DrugBank
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Compounds related to Rapadilino Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hydroxyurea45 50 1111.5RECQL4, WRN

GO Terms for genes affiliated with Rapadilino Syndrome

Sources:
16Gene Ontology
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Cellular components related to Rapadilino Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin ligase complexGO:0001519.2UBR2, UBR1
2nucleolusGO:0057308.0RECQL5, RECQL, WRN, UBR2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cellular response to leucineGO:0712339.6UBR1, UBR2
2DNA strand renaturationGO:0007339.5RECQL4, RECQL
3negative regulation of TOR signaling cascadeGO:0320079.5UBR2, UBR1
4ubiquitin-dependent protein catabolic processGO:0065119.5UBR2, UBR1
5DNA metabolic processGO:0062599.0WRN, RECQL5
6DNA repairGO:0062818.3RECQL5, RECQL4, RECQL
7DNA duplex unwindingGO:0325088.3RECQL5, RECQL4, RECQL, WRN
8DNA recombinationGO:0063108.3WRN, RECQL, RECQL4, RECQL5
9DNA replicationGO:0062608.2RECQL5, RECQL4, RECQL, WRN

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

idNameGO IDScoreTop Affiliating Genes
1leucine bindingGO:0707289.5UBR2, UBR1
2bubble DNA bindingGO:0004059.4WRN, RECQL4
3ATP-dependent 3-5 DNA helicase activityGO:0431409.0RECQL4, RECQL, WRN
4ATP-dependent DNA helicase activityGO:0040039.0RECQL, WRN
5DNA helicase activityGO:0036788.6RECQL5, RECQL, WRN
6ATP bindingGO:0055248.1RECQL5, RECQL4, RECQL, WRN

Products for genes affiliated with Rapadilino Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rapadilino Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet