MCID: RPD002
MIFTS: 44

Rapadilino Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Smell/Taste diseases categories
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Summaries for Rapadilino Syndrome

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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 based summary: 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 acute lymphoblastic leukemia, 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 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:65 Rapadilino syndrome is an autosomal recessivecongenital disorder characterized by radial and patellar... more...

Description from OMIM:46 266280

Aliases & Classifications for Rapadilino Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Rapadilino Syndrome, Aliases & Descriptions:

Name: Rapadilino Syndrome 8 9 42 20 22 21 46 10 44 48 62
Absent Thumbs, Dislocated Joints, Long Face with Narrow Palpebral Fissures, Long Slender Nose, Arched Palate 42 21
 
Radial and Patellar Hypoplasia 42 21
Radial and Patellar Aplasia 42 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
rapadilino syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:0050774
OMIM46 266280
MESH via Orphanet35 C535288
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet63 C1849453

Related Diseases for Rapadilino Syndrome

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1baller-gerold syndrome30.0RECQL5, RECQL, RECQL4
2acute lymphoblastic leukemia10.1
3leukemia10.1
4lymphoblastic leukemia10.1
5osteosarcoma10.1
6cataract10.0RECQL4, WRN
7imperforate anus10.0UBR1
8johanson-blizzard syndrome9.8UBR2, UBR1
9rothmund-thomson syndrome9.7RECQL5, RECQL, RECQL4, WRN
10bloom syndrome9.6RECQL, RECQL4, WRN, RECQL5
11werner syndrome9.6WRN, RECQL4, RECQL5, RECQL

Graphical network of diseases related to Rapadilino Syndrome:



Diseases related to rapadilino syndrome

Symptoms for Rapadilino Syndrome

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Symptoms by clinical synopsis from OMIM:

266280

Clinical features from OMIM:

266280

Symptoms:

48 (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

HPO human phenotypes related to Rapadilino Syndrome:

(show all 30)
id Description Frequency HPO Source Accession
1 narrow nasal bridge hallmark (90%) HP:0000446
2 intrauterine growth retardation hallmark (90%) HP:0001511
3 malabsorption hallmark (90%) HP:0002024
4 short stature hallmark (90%) HP:0004322
5 patellar aplasia hallmark (90%) HP:0006443
6 aplasia/hypoplasia of the radius hallmark (90%) HP:0006501
7 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
8 cafe-au-lait spot typical (50%) HP:0000957
9 joint hypermobility typical (50%) HP:0001382
10 cleft palate occasional (7.5%) HP:0000175
11 hearing impairment occasional (7.5%) HP:0000365
12 lymphoma occasional (7.5%) HP:0002665
13 vertebral segmentation defect occasional (7.5%) HP:0003422
14 sarcoma occasional (7.5%) HP:0100242
15 autosomal recessive inheritance HP:0000007
16 cleft palate HP:0000175
17 high palate HP:0000218
18 long face HP:0000276
19 short chin HP:0000331
20 hearing impairment HP:0000365
21 slender nose HP:0000417
22 blepharophimosis HP:0000581
23 mottled pigmentation HP:0001070
24 joint dislocation HP:0001373
25 diarrhea HP:0002014
26 short stature HP:0004322
27 stiff interphalangeal joints HP:0005198
28 aplasia/hypoplasia of the patella HP:0006498
29 aplasia/hypoplasia of the radius HP:0006501
30 absent thumb HP:0009777

Drugs & Therapeutics for Rapadilino Syndrome

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Drug clinical trials:

Search ClinicalTrials for Rapadilino Syndrome

Search NIH Clinical Center for Rapadilino Syndrome

Genetic Tests for Rapadilino Syndrome

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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

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MalaCards organs/tissues related to Rapadilino Syndrome:

32
Bone

Animal Models for Rapadilino Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rapadilino Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.1UBR1, UBR2, RECQL5, RECQL, RECQL4, WRN

Publications for Rapadilino Syndrome

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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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Clinvar genetic disease variations for Rapadilino Syndrome:

6 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1RECQL4NM_004260.3(RECQL4): c.1390+2delTdeletionPathogenicrs386833843GRCh37Chr 8, 145740708: 145740708
2RECQL4NM_004260.3(RECQL4): c.1397C> T (p.Pro466Leu)single nucleotide variantLikely pathogenicrs386833844GRCh37Chr 8, 145740620: 145740620
3RECQL4NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs)deletionLikely pathogenicrs386833845GRCh37Chr 8, 145740367: 145740367
4RECQL4NM_004260.3(RECQL4): c.1885_1888delCGGG (p.Arg629Serfs)deletionLikely pathogenicrs386833846GRCh37Chr 8, 145739482: 145739485
5RECQL4NM_004260.3(RECQL4): c.1887_1890delGGAG (p.Glu630Alafs)deletionLikely pathogenicrs386833847GRCh37Chr 8, 145739480: 145739483
6RECQL4NM_004260.3(RECQL4): c.1910T> C (p.Phe637Ser)single nucleotide variantLikely pathogenicrs386833848GRCh37Chr 8, 145739460: 145739460
7RECQL4NM_004260.3(RECQL4): c.2059-1G> Asingle nucleotide variantLikely pathogenicrs386833849GRCh37Chr 8, 145739097: 145739097
8RECQL4NM_004260.3(RECQL4): c.2091T> G (p.Phe697Leu)single nucleotide variantLikely pathogenicrs386833850GRCh37Chr 8, 145739064: 145739064
9RECQL4NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter)single nucleotide variantLikely pathogenicrs386833851GRCh37Chr 8, 145738509: 145738509
10RECQL4NM_004260.3(RECQL4): c.3072delA (p.Val1026Cysfs)deletionLikely pathogenicrs386833852GRCh37Chr 8, 145737691: 145737691
11RECQL4NM_004260.3(RECQL4): c.3214A> T (p.Arg1072Ter)single nucleotide variantLikely pathogenicrs386833853GRCh37Chr 8, 145737549: 145737549
12RECQL4NM_004260.3(RECQL4): c.3271C> T (p.Gln1091Ter)single nucleotide variantLikely pathogenicrs137853230GRCh37Chr 8, 145737416: 145737416
13RECQL4NM_004260.3(RECQL4): c.3599_3600delCG (p.Thr1200Argfs)deletionLikely pathogenicrs386833854GRCh37Chr 8, 145736841: 145736842
14RECQL4RECQL4, IVS7, 1-BP DEL, +2deletionPathogenic
15RECQL4RECQL4, GLU1091TERsingle nucleotide variantPathogenic
16RECQL4NM_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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Expression patterns in normal tissues for genes affiliated with Rapadilino Syndrome

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Pathways for genes affiliated with Rapadilino Syndrome

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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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Sources:
44Novoseek, 50PharmGKB, 11DrugBank
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Compounds related to Rapadilino Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hydroxyurea44 50 1111.6RECQL4, WRN

GO Terms for genes affiliated with Rapadilino Syndrome

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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:0004059.6WRN, RECQL4
2leucine bindingGO:0707289.5UBR1, UBR2
3annealing helicase activityGO:0363109.3RECQL, RECQL4
4ATP-dependent 3-5 DNA helicase activityGO:0431409.1RECQL, RECQL4, WRN
5ATP-dependent DNA helicase activityGO:0040039.1RECQL, WRN
6DNA helicase activityGO:0036788.7RECQL5, RECQL, WRN
7ATP bindingGO:0055248.2RECQL5, RECQL, RECQL4, WRN

Products for genes affiliated with Rapadilino Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Rapadilino Syndrome

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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