Rapadilino Syndrome (RAPADILINOS)

Categories: Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Rapadilino Syndrome

MalaCards integrated aliases for Rapadilino Syndrome:

Name: Rapadilino Syndrome 57 12 74 20 43 58 73 36 29 13 54 6 44 15 71
Absent Thumbs, Dislocated Joints, Long Face with Narrow Palpebral Fissures, Long Slender Nose, Arched Palate 20 43
Radial and Patellar Hypoplasia 20 43
Radial and Patellar Aplasia 20 43
Syndrome, Rapadilino 39
Rapadilinos 73


Orphanet epidemiological data:

rapadilino syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;


57 (Updated 05-Mar-2021)
autosomal recessive


rapadilino syndrome:
Inheritance autosomal recessive inheritance


Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis

External Ids:

Disease Ontology 12 DOID:0050774
OMIM® 57 266280
KEGG 36 H00965
MeSH 44 C535288
SNOMED-CT 67 702413000
MESH via Orphanet 45 C535288
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C1849453
Orphanet 58 ORPHA3021
MedGen 41 C1849453
UMLS 71 C1849453

Summaries for Rapadilino Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3021DefinitionA rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.EpidemiologyPrevalence is unknown, but the disease is rare. It was first described in families originating from different parts of Finland, but non-Finnish cases were later identified.Clinical descriptionGrowth delay is both pre- and postnatal. It is aggravated by feeding problems and diarrhea of no known cause.EtiologyRAPADILINO syndrome is caused by mutations of the RECQL4 gene, a member of the family of RecQ-helicase genes which are at the origin of diseases predisposing to cancer.Differential diagnosisDifferential diagnoses include Rothmund-Thomson syndrome (RTS) and Baller-Gerold syndrome (see these terms), which show considerable overlap with RAPADILINO syndrome. Mutations of the RECQL4 gene have also been described for these syndromes.The presence of poikiloderma, a major symptom of RTS, distinguishes this syndrome from RAPADILINO. Radial hypoplasia or aplasia, which is constant in RAPADILINO syndrome, is occasional in RTS. Equally, the presence of craniosynostosis in Baller-Gerold syndrome differentiates it from RAPADILINO syndrome. The three syndromes predispose the risk of developing malign pathologies, although this is significantly greater for RTS (mainly osteosarcoma and cutaneous cancers). The clinical differences can be explained by phenotype-genotype correlation, in particular by preservation of helicases in RAPADLINO syndrome.Genetic counselingRAPADILINO syndrome is transmitted in an autosomal recessive manner.Management and treatmentOrthopedic and nutritional management is recommended when needed and appropriate investigation is recommended in the event of signs suggestive of osteosarcoma.Visit the Orphanet disease page for more resources.

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 werner syndrome and rothmund-thomson syndrome, type 2. An important gene associated with Rapadilino Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways are Cell Cycle, Mitotic and DNA Double-Strand Break Repair. Affiliated tissues include bone, and related phenotypes are high palate and hearing impairment

Disease Ontology : 12 A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has material basis in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.

MedlinePlus Genetics : 43 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.Most affected individuals have underdevelopment or absence of the bones in the forearms and the thumbs, which are known as radial ray malformations. The kneecaps (patellae) can also be underdeveloped or absent. Other features include an opening in the roof of the mouth (cleft palate) or a high arched palate; a long, slender nose; and dislocated joints.Many infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting. The combination of impaired bone development and feeding problems leads to slow growth and short stature in affected individuals.Some individuals with RAPADILINO syndrome have harmless light brown patches of skin that resemble a skin finding known as café-au-lait spots. In addition, people with RAPADILINO syndrome have a slightly increased risk of developing a type of bone cancer known as osteosarcoma or a blood-related cancer called lymphoma. In individuals with RAPADILINO syndrome, osteosarcoma most often develops during childhood or adolescence, and lymphoma typically develops in young adulthood.The condition name is an acronym for the characteristic features of the disorder: RA for radial ray malformations, PA for patella and palate abnormalities, DI for diarrhea and dislocated joints, LI for limb abnormalities and little size, and NO for slender nose and normal intelligence.The varied signs and symptoms of RAPADILINO syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and Rothmund-Thomson syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.

KEGG : 36 RAPADILINO syndrome is an abbreviation of its hallmark features: radial hypo-/aplasia, patellae hypo-/aplasia and cleft or highly arched palate, diarrhoea and dislocated joints, little size and limb malformation, nose slender and normal intelligence. It is an autosomal recessive disorder caused by mutations in human DNA helicase RECQL4. Unlike its allelic disorders Rothmund-Thomson syndrome and Baller-Gerold syndrome, RAPADILINO syndrome lacks poikiloderma.

UniProtKB/Swiss-Prot : 73 RAPADILINO syndrome: Disease characterized by radial and patellar aplasia or hypoplasia.

Wikipedia : 74 RAPADILINO syndrome is an autosomal recessive disorder characterized... more...

More information from OMIM: 266280

Related Diseases for Rapadilino Syndrome

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

Diseases related to Rapadilino Syndrome

Symptoms & Phenotypes for Rapadilino Syndrome

Human phenotypes related to Rapadilino Syndrome:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 hearing impairment 31 HP:0000365
3 short stature 31 HP:0004322
4 cleft palate 31 HP:0000175
5 high, narrow palate 31 HP:0002705
6 long face 31 HP:0000276
7 joint dislocation 31 HP:0001373
8 blepharophimosis 31 HP:0000581
9 aplasia/hypoplasia of the patella 31 HP:0006498
10 aplasia/hypoplasia of the radius 31 HP:0006501
11 diarrhea 31 HP:0002014
12 absent thumb 31 HP:0009777
13 mottled pigmentation 31 HP:0001070
14 narrow palpebral fissure 31 HP:0045025
15 short chin 31 HP:0000331
16 stiff interphalangeal joints 31 HP:0005198
17 slender nose 31 HP:0000417

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
cleft palate
high arched palate

stiff interphalangeal joints
joint dislocations

normal intelligence

small stature

unusual ears
hearing defect

long face
small chin
narrow palpebral fissures
long slender nose

G I:
infantile diarrhea

absent thumbs
radial aplasia/hypoplasia

patellar aplasia/hypoplasia

mottled or stippled pigmentation

Clinical features from OMIM®:

266280 (Updated 05-Mar-2021)

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

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 BLM MUS81
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.4 BLM DNA2 MUS81 RECQL RECQL4 RECQL5

MGI Mouse Phenotypes related to Rapadilino Syndrome:

# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.07 BLM CDC45 DNA2 HELLS MCM10 MUS81
2 embryo MP:0005380 9.76 BLM CDC45 HELLS MCM10 RECQL4 TOP3A
3 mortality/aging MP:0010768 9.73 BLM CDC45 DNA2 HELLS MCM10 MUS81
4 neoplasm MP:0002006 9.02 BLM DNA2 MUS81 RECQL4 WRN

Drugs & Therapeutics for Rapadilino Syndrome

Search Clinical Trials , NIH Clinical Center for Rapadilino Syndrome

Cochrane evidence based reviews: rapadilino syndrome

Genetic Tests for Rapadilino Syndrome

Genetic tests related to Rapadilino Syndrome:

# Genetic test Affiliating Genes
1 Rapadilino Syndrome 29 RECQL4

Anatomical Context for Rapadilino Syndrome

MalaCards organs/tissues related to Rapadilino Syndrome:


Publications for Rapadilino Syndrome

Articles related to Rapadilino Syndrome:

(show all 19)
# Title Authors PMID Year
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. 61 6 57
12952869 2003
The mutation spectrum in RECQL4 diseases. 57 61
18716613 2009
RAPADILINO syndrome. 57 61
1481838 1992
RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. 57 61
2801769 1989
A patient with Baller-Gerold syndrome and midline NK/T lymphoma. 54 61
19291770 2009
Nuclear import and retention domains in the amino terminus of RECQL4. 54 61
17250975 2007
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. 61 54
15964893 2006
RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. 61 54
15317757 2004
The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation. 61
25859855 2015
Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature. 61
26064716 2015
Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder. 61
23899764 2013
RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity. 61
22885111 2012
Osteosarcoma following growth hormone therapy in recurrent acute lymphoblastic leukemia and Rapadilino syndrome. 61
22475304 2012
Rothmund-Thomson syndrome. 61
20113479 2010
Human syndromes with congenital patellar anomalies and the underlying gene defects. 61
16143015 2005
A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. 61
15897384 2005
Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation. 61
11891687 2002
RAPADILINO syndrome: a multiple malformation syndrome with radial and patellar aplasia. 61
10413338 1999
Rapadilino syndrome--a non-Finnish case. 61
9571286 1998

Variations for Rapadilino Syndrome

ClinVar genetic disease variations for Rapadilino Syndrome:

6 (show top 50) (show all 58)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RECQL4 E1091* SNV Pathogenic 6071
2 RECQL4 NM_004260.3(RECQL4):c.806G>A (p.Trp269Ter) SNV Pathogenic 6072 rs137853231 8:145741697-145741697 8:144516313-144516313
3 RECQL4 NM_004260.3(RECQL4):c.1390+2del Deletion Pathogenic 56398 rs386833843 8:145740708-145740708 8:144515324-144515324
4 RECQL4 NM_004260.3(RECQL4):c.2269C>T (p.Gln757Ter) SNV Pathogenic 6063 rs137853229 8:145738796-145738796 8:144513412-144513412
5 RECQL4 RECQL4, IVS7, 1-BP DEL, +2 Deletion Pathogenic 6070
6 RECQL4 NM_004260.3(RECQL4):c.2492_2493del (p.His831fs) Deletion Likely pathogenic 6064 rs752729755 8:145738492-145738493 8:144513109-144513110
7 RECQL4 NM_004260.3(RECQL4):c.3072_3073del (p.Val1026fs) Deletion Likely pathogenic 239754 rs771538008 8:145737690-145737691 8:144512307-144512308
8 RECQL4 NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs) Deletion Likely pathogenic 804413 rs1586821679 8:145741464-145741465 8:144516080-144516081
9 RECQL4 NM_004260.3(RECQL4):c.1397C>T (p.Pro466Leu) SNV Likely pathogenic 56399 rs386833844 8:145740620-145740620 8:144515236-144515236
10 RECQL4 NM_004260.3(RECQL4):c.1573del (p.Cys525fs) Deletion Likely pathogenic 6066 rs386833845 8:145740367-145740367 8:144514983-144514983
11 RECQL4 NM_004260.3(RECQL4):c.1885_1888del (p.Arg629fs) Deletion Likely pathogenic 56401 rs386833846 8:145739482-145739485 8:144514098-144514101
12 RECQL4 NM_004260.3(RECQL4):c.1887_1890del (p.Glu630fs) Deletion Likely pathogenic 56402 rs386833847 8:145739480-145739483 8:144514096-144514099
13 RECQL4 NM_004260.3(RECQL4):c.1910T>C (p.Phe637Ser) SNV Likely pathogenic 56403 rs386833848 8:145739460-145739460 8:144514076-144514076
14 RECQL4 NM_004260.3(RECQL4):c.2059-1G>A SNV Likely pathogenic 56404 rs386833849 8:145739097-145739097 8:144513713-144513713
15 RECQL4 NM_004260.3(RECQL4):c.2091T>G (p.Phe697Leu) SNV Likely pathogenic 56405 rs386833850 8:145739064-145739064 8:144513680-144513680
16 RECQL4 NM_004260.3(RECQL4):c.2476C>T (p.Arg826Ter) SNV Likely pathogenic 56406 rs386833851 8:145738509-145738509 8:144513126-144513126
17 RECQL4 NM_004260.3(RECQL4):c.3072del (p.Val1026fs) Deletion Likely pathogenic 56407 rs386833852 8:145737691-145737691 8:144512308-144512308
18 RECQL4 NM_004260.3(RECQL4):c.3214A>T (p.Arg1072Ter) SNV Likely pathogenic 56408 rs386833853 8:145737549-145737549 8:144512166-144512166
19 RECQL4 NM_004260.3(RECQL4):c.3271C>T (p.Gln1091Ter) SNV Likely pathogenic 56409 rs137853230 8:145737416-145737416 8:144512033-144512033
20 RECQL4 NM_004260.3(RECQL4):c.3599_3600del (p.Thr1200fs) Deletion Likely pathogenic 56410 rs386833854 8:145736841-145736842 8:144511458-144511459
21 RECQL4 NM_004260.3(RECQL4):c.1390+1G>T SNV Likely pathogenic 225453 rs1085307090 8:145740709-145740709 8:144515325-144515325
22 RECQL4 NM_004260.3(RECQL4):c.3542G>A (p.Arg1181Gln) SNV Uncertain significance 529017 rs370069034 8:145736899-145736899 8:144511516-144511516
23 RECQL4 NM_004260.3(RECQL4):c.3532G>A (p.Gly1178Arg) SNV Uncertain significance 406901 rs776146178 8:145736909-145736909 8:144511526-144511526
24 RECQL4 NM_004260.3(RECQL4):c.3528G>A (p.Val1176=) SNV Uncertain significance 528975 rs763965257 8:145736913-145736913 8:144511530-144511530
25 RECQL4 NM_004260.3(RECQL4):c.3496G>A (p.Gly1166Ser) SNV Uncertain significance 570383 rs779410033 8:145737070-145737070 8:144511687-144511687
26 RECQL4 NM_004260.3(RECQL4):c.3428T>C (p.Ile1143Thr) SNV Uncertain significance 583315 rs759478327 8:145737138-145737138 8:144511755-144511755
27 RECQL4 NM_004260.3(RECQL4):c.3358G>A (p.Glu1120Lys) SNV Uncertain significance 573280 rs776023102 8:145737329-145737329 8:144511946-144511946
28 RECQL4 NM_004260.3(RECQL4):c.3317G>A (p.Arg1106His) SNV Uncertain significance 407023 rs34236392 8:145737370-145737370 8:144511987-144511987
29 RECQL4 NM_004260.3(RECQL4):c.3172C>G (p.Arg1058Gly) SNV Uncertain significance 135144 rs375297971 8:145737591-145737591 8:144512208-144512208
30 RECQL4 NM_004260.3(RECQL4):c.3055+5G>A SNV Uncertain significance 406976 rs377031190 8:145737770-145737770 8:144512387-144512387
31 RECQL4 NM_004260.3(RECQL4):c.2983T>A (p.Ser995Thr) SNV Uncertain significance 406971 rs373202723 8:145737847-145737847 8:144512464-144512464
32 RECQL4 NM_004260.3(RECQL4):c.2967G>A (p.Met989Ile) SNV Uncertain significance 239751 rs200018416 8:145737863-145737863 8:144512480-144512480
33 RECQL4 NM_004260.3(RECQL4):c.2761G>A (p.Glu921Lys) SNV Uncertain significance 406917 rs371890521 8:145738149-145738149 8:144512766-144512766
34 RECQL4 NM_004260.3(RECQL4):c.2687T>C (p.Val896Ala) SNV Uncertain significance 576148 rs373763805 8:145738298-145738298 8:144512915-144512915
35 RECQL4 NM_004260.3(RECQL4):c.2543G>A (p.Arg848His) SNV Uncertain significance 459412 rs368989729 8:145738442-145738442 8:144513059-144513059
36 RECQL4 NM_004260.3(RECQL4):c.2486G>A (p.Arg829His) SNV Uncertain significance 529019 rs375250269 8:145738499-145738499 8:144513116-144513116
37 RECQL4 NM_004260.3(RECQL4):c.2351G>A (p.Arg784Gln) SNV Uncertain significance 459395 rs536096413 8:145738713-145738713 8:144513330-144513330
38 RECQL4 NM_004260.3(RECQL4):c.2344G>A (p.Asp782Asn) SNV Uncertain significance 406939 rs758319706 8:145738720-145738720 8:144513337-144513337
39 RECQL4 NM_004260.3(RECQL4):c.2252G>A (p.Arg751Gln) SNV Uncertain significance 407010 rs559066300 8:145738813-145738813 8:144513429-144513429
40 RECQL4 NM_004260.3(RECQL4):c.1939C>G (p.Arg647Gly) SNV Uncertain significance 459358 rs775127620 8:145739431-145739431 8:144514047-144514047
41 RECQL4 NM_004260.3(RECQL4):c.1900G>A (p.Val634Met) SNV Uncertain significance 406918 rs747895651 8:145739470-145739470 8:144514086-144514086
42 RECQL4 NM_004260.3(RECQL4):c.1892G>A (p.Arg631His) SNV Uncertain significance 459352 rs771179943 8:145739478-145739478 8:144514094-144514094
43 RECQL4 NM_004260.3(RECQL4):c.20T>G (p.Val7Gly) SNV Uncertain significance 406965 rs781721739 8:145743149-145743149 8:144517765-144517765
44 RECQL4 NM_004260.3(RECQL4):c.385C>T (p.Pro129Ser) SNV Uncertain significance 239773 rs201542692 8:145742118-145742118 8:144516734-144516734
45 RECQL4 NM_004260.3(RECQL4):c.539G>A (p.Ser180Asn) SNV Uncertain significance 406996 rs1060501378 8:145741964-145741964 8:144516580-144516580
46 RECQL4 NM_004260.3(RECQL4):c.1064G>A (p.Arg355Gln) SNV Uncertain significance 407037 rs374743591 8:145741439-145741439 8:144516055-144516055
47 RECQL4 NM_004260.3(RECQL4):c.1151G>A (p.Arg384Gln) SNV Uncertain significance 135170 rs376045624 8:145741255-145741255 8:144515871-144515871
48 RECQL4 NM_004260.3(RECQL4):c.1159G>A (p.Gly387Arg) SNV Uncertain significance 239693 rs202043854 8:145741247-145741247 8:144515863-144515863
49 RECQL4 NM_004260.3(RECQL4):c.1219G>A (p.Glu407Lys) SNV Uncertain significance 239694 rs117670586 8:145741187-145741187 8:144515803-144515803
50 RECQL4 NM_004260.3(RECQL4):c.1345A>C (p.Thr449Pro) SNV Uncertain significance 459315 rs535692036 8:145740755-145740755 8:144515371-144515371

Expression for Rapadilino Syndrome

Search GEO for disease gene expression data for Rapadilino Syndrome.

Pathways for Rapadilino Syndrome

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

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
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Show member pathways
7 11.62 TOP3A RMI2 RMI1 MUS81 BLM
Show member pathways

GO Terms for Rapadilino Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.7 WRN TOP3A RMI2 RMI1 RECQL5 RECQL
2 chromosome GO:0005694 9.63 WRN TOP3A RECQL5 RECQL4 RECQL BLM
3 chromosome, telomeric region GO:0000781 9.56 WRN RECQL4 DNA2 BLM
4 nucleus GO:0005634 9.47 WRN UBR2 TOP3A RMI2 RMI1 RECQL5
5 replication fork GO:0005657 9.32 WRN BLM

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10 WRN RECQL5 MUS81 MCM10 DNA2 BLM
2 DNA repair GO:0006281 9.92 WRN RMI2 RECQL5 RECQL4 RECQL MUS81
3 regulation of signal transduction by p53 class mediator GO:1901796 9.88 WRN TOP3A RMI2 RMI1 DNA2 BLM
4 DNA recombination GO:0006310 9.85 WRN RECQL5 RECQL4 RECQL MUS81 BLM
5 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.79 WRN MUS81 DNA2
6 telomere maintenance GO:0000723 9.78 WRN RECQL4 DNA2 BLM
7 DNA duplex unwinding GO:0032508 9.73 WRN RECQL5 RECQL4 RECQL DNA2 BLM
8 t-circle formation GO:0090656 9.69 WRN DNA2 BLM
9 telomeric D-loop disassembly GO:0061820 9.67 WRN RECQL4 BLM
10 protein catabolic process GO:0030163 9.65 UBR2 UBR1
11 DNA replication initiation GO:0006270 9.64 MCM10 CDC45
12 replication fork processing GO:0031297 9.64 WRN BLM
13 DNA metabolic process GO:0006259 9.63 WRN RECQL5
14 base-excision repair GO:0006284 9.63 WRN DNA2
15 DNA strand renaturation GO:0000733 9.63 RECQL4 RECQL BLM
16 double-strand break repair via homologous recombination GO:0000724 9.63 WRN RMI1 RECQL5 RECQL4 RECQL BLM
17 negative regulation of TOR signaling GO:0032007 9.62 UBR2 UBR1
18 negative regulation of double-strand break repair via homologous recombination GO:2000042 9.62 RMI2 RECQL5
19 resolution of meiotic recombination intermediates GO:0000712 9.61 RMI1 MUS81
20 G-quadruplex DNA unwinding GO:0044806 9.61 WRN DNA2 BLM
21 DNA double-strand break processing GO:0000729 9.6 DNA2 BLM
22 cellular metabolic process GO:0044237 9.59 WRN BLM
23 double-strand break repair via break-induced replication GO:0000727 9.58 MUS81 CDC45
24 cellular response to leucine GO:0071233 9.58 UBR2 UBR1
25 DNA replication checkpoint GO:0000076 9.57 DNA2 CDC45
26 chromosome separation GO:0051304 9.56 TOP3A RECQL5
27 cellular response to camptothecin GO:0072757 9.55 RECQL5 BLM
28 ubiquitin-dependent protein catabolic process via the N-end rule pathway GO:0071596 9.54 UBR2 UBR1
29 DNA unwinding involved in DNA replication GO:0006268 9.35 WRN RECQL5 RECQL4 RECQL BLM
30 DNA replication GO:0006260 9.32 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.47 WRN UBR2 UBR1 TOP3A RMI2 RMI1
2 DNA binding GO:0003677 10.17 WRN TOP3A RMI2 RECQL MUS81 MCM10
3 nucleotide binding GO:0000166 10.13 WRN RMI1 RECQL5 RECQL4 RECQL HELLS
4 ATP binding GO:0005524 10.1 WRN RECQL5 RECQL4 RECQL HELLS DNA2
5 hydrolase activity GO:0016787 10.08 WRN RECQL5 RECQL4 RECQL MUS81 HELLS
6 nucleic acid binding GO:0003676 10.05 WRN TOP3A RECQL5 RECQL4 RECQL BLM
7 nuclease activity GO:0004518 9.78 WRN MUS81 DNA2
8 single-stranded DNA binding GO:0003697 9.73 TOP3A MCM10 CDC45 BLM
9 DNA helicase activity GO:0003678 9.73 WRN RECQL5 RECQL4 RECQL DNA2 BLM
10 helicase activity GO:0004386 9.7 WRN RECQL5 RECQL4 RECQL HELLS DNA2
11 DNA replication origin binding GO:0003688 9.61 MCM10 CDC45
12 four-way junction DNA binding GO:0000400 9.59 WRN BLM
13 G-quadruplex DNA binding GO:0051880 9.58 WRN BLM
14 bubble DNA binding GO:0000405 9.58 WRN RECQL4 BLM
15 leucine binding GO:0070728 9.55 UBR2 UBR1
16 Y-form DNA binding GO:0000403 9.54 WRN BLM
17 annealing helicase activity GO:0036310 9.54 RECQL4 RECQL BLM
18 8-hydroxy-2'-deoxyguanosine DNA binding GO:1905773 9.51 WRN BLM
19 telomeric D-loop binding GO:0061821 9.5 WRN RECQL4 BLM
20 telomeric G-quadruplex DNA binding GO:0061849 9.49 WRN BLM
21 forked DNA-dependent helicase activity GO:0061749 9.46 WRN BLM
22 3'-5' DNA helicase activity GO:0043138 9.35 WRN RECQL5 RECQL4 RECQL BLM
23 four-way junction helicase activity GO:0009378 9.02 WRN RECQL5 RECQL4 RECQL BLM

Sources for Rapadilino Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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