MCID: RPD002
MIFTS: 39

Rapadilino Syndrome

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

Aliases & Classifications for Rapadilino Syndrome

MalaCards integrated aliases for Rapadilino Syndrome:

Name: Rapadilino Syndrome 53 12 72 49 24 55 71 36 28 13 51 14 69
Absent Thumbs, Dislocated Joints, Long Face with Narrow Palpebral Fissures, Long Slender Nose, Arched Palate 49 24
Radial and Patellar Hypoplasia 49 24
Radial and Patellar Aplasia 49 24
Rapadilinos 71

Characteristics:

Orphanet epidemiological data:

55
rapadilino syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
rapadilino syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 266280
Disease Ontology 12 DOID:0050774
Orphanet 55 ORPHA3021
MESH via Orphanet 42 C535288
UMLS via Orphanet 70 C1849453
ICD10 via Orphanet 33 Q87.1
MedGen 39 C1849453
KEGG 36 H00965
UMLS 69 C1849453

Summaries for Rapadilino Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3021Disease definitionRAPADILINO syndrome is a 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. Last updated: 4/15/2009

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 leukemia, 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 : 71 RAPADILINO syndrome: Disease characterized by radial and patellar aplasia or hypoplasia.

Genetics Home Reference : 24 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.

Wikipedia : 72 RAPADILINO syndrome is an autosomal recessive disorder characterized... 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:

# Related Disease Score Top Affiliating Genes
1 baller-gerold syndrome 30.0 RECQL RECQL4 RECQL5 WRN
2 leukemia 9.9
3 lymphoblastic leukemia 9.9
4 spondylosis 9.8 HELLS WRN
5 johanson-blizzard syndrome 9.7 UBR1 UBR2
6 rothmund-thomson syndrome 8.9 HELLS RECQL RECQL4 RECQL5 WRN
7 bloom syndrome 8.8 HELLS RECQL RECQL4 RECQL5 WRN
8 werner syndrome 8.8 HELLS RECQL RECQL4 RECQL5 WRN

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



Diseases related to Rapadilino Syndrome

Symptoms & Phenotypes for Rapadilino Syndrome

Symptoms via clinical synopsis from OMIM:

53
GI:
infantile diarrhea

Facies:
long face
narrow palpebral fissures
long slender nose
small chin

Limbs:
absent thumbs
radial aplasia/hypoplasia

Growth:
small stature

Ears:
unusual ears
hearing defect

Mouth:
cleft palate
high arched palate

Neuro:
normal intelligence

Joints:
joint dislocations
stiff interphalangeal joints

Skel:
patellar aplasia/hypoplasia

Skin:
mottled or stippled pigmentation


Clinical features from OMIM:

266280

Human phenotypes related to Rapadilino Syndrome:

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

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

25
# 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:

43
# 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:

# Genetic test Affiliating Genes
1 Rapadilino Syndrome 28 RECQL4

Anatomical Context for Rapadilino Syndrome

MalaCards organs/tissues related to Rapadilino Syndrome:

38
Bone

Publications for Rapadilino Syndrome

Articles related to Rapadilino Syndrome:

# 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 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 RECQL4 NM_004260.3(RECQL4): c.1390+2delT deletion Pathogenic rs386833843 GRCh37 Chromosome 8, 145740708: 145740708
2 RECQL4 NM_004260.3(RECQL4): c.1885_1888delCGGG (p.Arg629Serfs) deletion Likely pathogenic rs386833846 GRCh37 Chromosome 8, 145739482: 145739485
3 RECQL4 NM_004260.3(RECQL4): c.1887_1890delGGAG (p.Glu630Alafs) deletion Likely pathogenic rs386833847 GRCh37 Chromosome 8, 145739480: 145739483
4 RECQL4 NM_004260.3(RECQL4): c.1910T> C (p.Phe637Ser) single nucleotide variant Likely pathogenic rs386833848 GRCh37 Chromosome 8, 145739460: 145739460
5 RECQL4 NM_004260.3(RECQL4): c.2059-1G> A single nucleotide variant Likely pathogenic rs386833849 GRCh37 Chromosome 8, 145739097: 145739097
6 RECQL4 NM_004260.3(RECQL4): c.2091T> G (p.Phe697Leu) single nucleotide variant Likely pathogenic rs386833850 GRCh37 Chromosome 8, 145739064: 145739064
7 RECQL4 NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833851 GRCh37 Chromosome 8, 145738509: 145738509
8 RECQL4 NM_004260.3(RECQL4): c.3072delA (p.Val1026Cysfs) deletion Pathogenic/Likely pathogenic rs386833852 GRCh37 Chromosome 8, 145737691: 145737691
9 RECQL4 NM_004260.3(RECQL4): c.3214A> T (p.Arg1072Ter) single nucleotide variant Likely pathogenic rs386833853 GRCh37 Chromosome 8, 145737549: 145737549
10 RECQL4 NM_004260.3(RECQL4): c.3271C> T (p.Gln1091Ter) single nucleotide variant Likely pathogenic rs137853230 GRCh37 Chromosome 8, 145737416: 145737416
11 RECQL4 NM_004260.3(RECQL4): c.3599_3600delCG (p.Thr1200Argfs) deletion Likely pathogenic rs386833854 GRCh37 Chromosome 8, 145736841: 145736842
12 RECQL4 NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs) deletion Pathogenic/Likely pathogenic rs386833845 GRCh37 Chromosome 8, 145740367: 145740367
13 RECQL4 RECQL4, IVS7, 1-BP DEL, +2 deletion Pathogenic
14 RECQL4 RECQL4, GLU1091TER single nucleotide variant Pathogenic
15 RECQL4 NM_004260.3(RECQL4): c.806G> A (p.Trp269Ter) single nucleotide variant Pathogenic rs137853231 GRCh37 Chromosome 8, 145741697: 145741697
16 RECQL4 NM_004260.3(RECQL4): c.1390+1G> T single nucleotide variant Likely pathogenic rs1085307090 GRCh37 Chromosome 8, 145740709: 145740709

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
1 11.39 RECQL RECQL4 RECQL5 WRN

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 chromosome, telomeric region GO:0000781 8.62 RECQL4 WRN

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

(show all 16)
# 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 cellular response to leukemia inhibitory factor GO:1990830 9.56 HELLS KAT6B
4 chromatin silencing GO:0006342 9.55 HELLS UBR2
5 protein catabolic process GO:0030163 9.54 UBR1 UBR2
6 telomere maintenance GO:0000723 9.52 RECQL4 WRN
7 base-excision repair GO:0006284 9.51 RECQL4 WRN
8 DNA metabolic process GO:0006259 9.49 RECQL5 WRN
9 negative regulation of TOR signaling GO:0032007 9.48 UBR1 UBR2
10 DNA recombination GO:0006310 9.46 RECQL RECQL4 RECQL5 WRN
11 DNA strand renaturation GO:0000733 9.43 RECQL RECQL4
12 telomeric D-loop disassembly GO:0061820 9.4 RECQL4 WRN
13 cellular response to leucine GO:0071233 9.32 UBR1 UBR2
14 ubiquitin-dependent protein catabolic process via the N-end rule pathway GO:0071596 9.26 UBR1 UBR2
15 double-strand break repair via homologous recombination GO:0000724 9.26 RECQL RECQL4 RECQL5 WRN
16 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 11)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.89 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 9.48 RECQL WRN
5 annealing helicase activity GO:0036310 9.46 RECQL RECQL4
6 ATP-dependent helicase activity GO:0008026 9.46 RECQL RECQL4 RECQL5 WRN
7 bubble DNA binding GO:0000405 9.43 RECQL4 WRN
8 leucine binding GO:0070728 9.4 UBR1 UBR2
9 telomeric D-loop binding GO:0061821 9.37 RECQL4 WRN
10 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.26 RECQL RECQL4 RECQL5 WRN
11 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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