RAPADILINOS
MCID: RPD002
MIFTS: 39

Rapadilino Syndrome (RAPADILINOS) malady

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

Aliases & Classifications for Rapadilino Syndrome

Aliases & Descriptions for Rapadilino Syndrome:

Name: Rapadilino Syndrome 54 12 50 24 25 56 66 13 52 14 69
Absent Thumbs, Dislocated Joints, Long Face with Narrow Palpebral Fissures, Long Slender Nose, Arched Palate 50 25
Radial and Patellar Hypoplasia 50 25
Radial and Patellar Aplasia 50 25
Rapadilinos 66 29

Characteristics:

Orphanet epidemiological data:

56
rapadilino syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
rapadilino syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 266280
Disease Ontology 12 DOID:0050774
Orphanet 56 ORPHA3021
MESH via Orphanet 43 C535288
UMLS via Orphanet 70 C1849453
ICD10 via Orphanet 34 Q87.1
MedGen 40 C1849453

Summaries for Rapadilino Syndrome

Genetics Home Reference : 25 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 osteochondrodysplasia, and has symptoms including diarrhea, joint dislocation and hearing impairment. An important gene associated with Rapadilino Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways is DNA Damage. Affiliated tissues include bone, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and cellular

UniProtKB/Swiss-Prot : 66 RAPADILINO syndrome: Disease characterized by radial and patellar aplasia or hypoplasia.

Wikipedia : 71 Rapadilino syndrome is an autosomal recessivecongenital disorder characterized by radial and patellar... more...

Description from OMIM: 266280

Related Diseases for Rapadilino Syndrome

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

id Related Disease Score Top Affiliating Genes
1 baller-gerold syndrome 30.6 HELLS RECQL RECQL4 RECQL5 WRN
2 osteochondrodysplasia 10.1 HELLS WRN
3 pulmonary venoocclusive disease 2 9.9 UBR1 UBR2
4 leukemia 9.8
5 lymphoblastic leukemia 9.8
6 autoimmune disease 3 9.6 RECQL RECQL4 RECQL5 WRN
7 congenital heart defects, multiple types, 4 9.5 HELLS RECQL RECQL4 RECQL5 WRN
8 cone-rod dystrophy 9 9.5 HELLS RECQL RECQL4 RECQL5 WRN
9 acrodermatitis enteropathica 8.8 HELLS KAT6B RECQL RECQL4 RECQL5 UBR1

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



Diseases related to Rapadilino Syndrome

Symptoms & Phenotypes for Rapadilino Syndrome

Symptoms by clinical synopsis from OMIM:

266280

Clinical features from OMIM:

266280

Human phenotypes related to Rapadilino Syndrome:

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 diarrhea 32 HP:0002014
2 joint dislocation 32 HP:0001373
3 hearing impairment 32 HP:0000365
4 short stature 32 HP:0004322
5 cleft palate 32 HP:0000175
6 high, narrow palate 32 HP:0002705
7 long face 32 HP:0000276
8 blepharophimosis 32 HP:0000581
9 aplasia/hypoplasia of the patella 32 HP:0006498
10 aplasia/hypoplasia of the radius 32 HP:0006501
11 absent thumb 32 HP:0009777
12 mottled pigmentation 32 HP:0001070
13 short chin 32 HP:0000331
14 slender nose 32 HP:0000417
15 stiff interphalangeal joints 32 HP:0005198

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.92 RECQL RECQL4 RECQL5 WRN

MGI Mouse Phenotypes related to Rapadilino Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.5 HELLS RECQL RECQL4 RECQL5 UBR1 UBR2
2 adipose tissue MP:0005375 9.46 HELLS RECQL4 UBR1 WRN
3 endocrine/exocrine gland MP:0005379 9.02 HELLS RECQL4 UBR1 UBR2 WRN

Drugs & Therapeutics for Rapadilino Syndrome

Search Clinical Trials , NIH Clinical Center for Rapadilino Syndrome

Genetic Tests for Rapadilino Syndrome

Genetic tests related to Rapadilino Syndrome:

id Genetic test Affiliating Genes
1 Rapadilino Syndrome 29 24 RECQL4

Anatomical Context for Rapadilino Syndrome

MalaCards organs/tissues related to Rapadilino Syndrome:

39
Bone

Publications for Rapadilino Syndrome

Articles related to Rapadilino Syndrome:

id Title Authors Year
1
Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature. ( 26064716 )
2015
2
Osteosarcoma following growth hormone therapy in recurrent acute lymphoblastic leukemia and Rapadilino syndrome. ( 22475304 )
2012
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

Variations for Rapadilino Syndrome

ClinVar genetic disease variations for Rapadilino Syndrome:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 RECQL4 NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs) deletion Pathogenic/Likely pathogenic rs386833845 GRCh37 Chromosome 8, 145740367: 145740367
2 RECQL4 RECQL4, IVS7, 1-BP DEL, +2 deletion Pathogenic
3 RECQL4 RECQL4, GLU1091TER single nucleotide variant Pathogenic
4 RECQL4 NM_004260.3(RECQL4): c.806G> A (p.Trp269Ter) single nucleotide variant Pathogenic rs137853231 GRCh37 Chromosome 8, 145741697: 145741697
5 RECQL4 NM_004260.3(RECQL4): c.1390+2delT deletion Pathogenic rs386833843 GRCh37 Chromosome 8, 145740708: 145740708
6 RECQL4 NM_004260.3(RECQL4): c.1885_1888delCGGG (p.Arg629Serfs) deletion Likely pathogenic rs386833846 GRCh37 Chromosome 8, 145739482: 145739485
7 RECQL4 NM_004260.3(RECQL4): c.1887_1890delGGAG (p.Glu630Alafs) deletion Likely pathogenic rs386833847 GRCh37 Chromosome 8, 145739480: 145739483
8 RECQL4 NM_004260.3(RECQL4): c.1910T> C (p.Phe637Ser) single nucleotide variant Likely pathogenic rs386833848 GRCh37 Chromosome 8, 145739460: 145739460
9 RECQL4 NM_004260.3(RECQL4): c.2059-1G> A single nucleotide variant Likely pathogenic rs386833849 GRCh37 Chromosome 8, 145739097: 145739097
10 RECQL4 NM_004260.3(RECQL4): c.2091T> G (p.Phe697Leu) single nucleotide variant Likely pathogenic rs386833850 GRCh37 Chromosome 8, 145739064: 145739064
11 RECQL4 NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833851 GRCh37 Chromosome 8, 145738509: 145738509
12 RECQL4 NM_004260.3(RECQL4): c.3072delA (p.Val1026Cysfs) deletion Likely pathogenic rs386833852 GRCh37 Chromosome 8, 145737691: 145737691
13 RECQL4 NM_004260.3(RECQL4): c.3214A> T (p.Arg1072Ter) single nucleotide variant Likely pathogenic rs386833853 GRCh37 Chromosome 8, 145737549: 145737549
14 RECQL4 NM_004260.3(RECQL4): c.3271C> T (p.Gln1091Ter) single nucleotide variant Likely pathogenic rs137853230 GRCh37 Chromosome 8, 145737416: 145737416
15 RECQL4 NM_004260.3(RECQL4): c.3599_3600delCG (p.Thr1200Argfs) deletion Likely pathogenic rs386833854 GRCh37 Chromosome 8, 145736841: 145736842

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:

id Super pathways Score Top Affiliating Genes
1 11.39 RECQL RECQL4 RECQL5 WRN

GO Terms for Rapadilino Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 chromosome, telomeric region GO:0000781 8.96 RECQL4 WRN
2 chromosome GO:0005694 8.92 RECQL RECQL4 RECQL5 WRN

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.67 RECQL RECQL4 RECQL5 WRN
2 DNA replication GO:0006260 9.63 RECQL4 RECQL5 WRN
3 chromatin silencing GO:0006342 9.55 HELLS UBR2
4 protein catabolic process GO:0030163 9.54 UBR1 UBR2
5 telomere maintenance GO:0000723 9.52 RECQL4 WRN
6 DNA metabolic process GO:0006259 9.51 RECQL5 WRN
7 base-excision repair GO:0006284 9.49 RECQL4 WRN
8 negative regulation of TOR signaling GO:0032007 9.48 UBR1 UBR2
9 DNA recombination GO:0006310 9.46 RECQL RECQL4 RECQL5 WRN
10 DNA strand renaturation GO:0000733 9.43 RECQL RECQL4
11 telomeric D-loop disassembly GO:0061820 9.4 RECQL4 WRN
12 cellular response to leucine GO:0071233 9.32 UBR1 UBR2
13 ubiquitin-dependent protein catabolic process via the N-end rule pathway GO:0071596 9.26 UBR1 UBR2
14 double-strand break repair via homologous recombination GO:0000724 9.26 RECQL RECQL4 RECQL5 WRN
15 DNA duplex unwinding GO:0032508 8.92 RECQL RECQL4 RECQL5 WRN

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.91 HELLS RECQL RECQL4 RECQL5 WRN
2 helicase activity GO:0004386 9.65 HELLS RECQL RECQL4 RECQL5 WRN
3 DNA helicase activity GO:0003678 9.5 RECQL RECQL5 WRN
4 ATP-dependent DNA helicase activity GO:0004003 9.49 RECQL WRN
5 oxidized purine DNA binding GO:0032357 9.48 RECQL4 WRN
6 annealing helicase activity GO:0036310 9.46 RECQL RECQL4
7 ATP-dependent helicase activity GO:0008026 9.46 RECQL RECQL4 RECQL5 WRN
8 bubble DNA binding GO:0000405 9.43 RECQL4 WRN
9 leucine binding GO:0070728 9.4 UBR1 UBR2
10 telomeric D-loop binding GO:0061821 9.37 RECQL4 WRN
11 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.26 RECQL RECQL4 RECQL5 WRN
12 four-way junction helicase activity GO:0009378 8.92 RECQL RECQL4 RECQL5 WRN

Sources for Rapadilino Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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