MCID: RPD002
MIFTS: 40

Rapadilino Syndrome

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

Aliases & Classifications for Rapadilino Syndrome

MalaCards integrated aliases for Rapadilino Syndrome:

Name: Rapadilino Syndrome 54 12 50 24 25 56 71 29 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 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal recessive


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

NIH Rare Diseases : 50 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 short stature, diarrhea and long face. 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 : 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.

Wikipedia : 72 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:

(showing 8, show less)
id Related Disease Score Top Affiliating Genes
1 baller-gerold syndrome 26.6 HELLS KAT6B RECQL RECQL4 RECQL5 UBR1
2 leukemia 9.8
3 lymphoblastic leukemia 9.8
4 osteochondrodysplasia 9.8 HELLS WRN
5 pulmonary venoocclusive disease 2 9.4 UBR1 UBR2
6 acrodermatitis enteropathica 9.2 RECQL RECQL4 RECQL5 WRN
7 arthrogryposis, renal dysfunction, and cholestasis 1 8.9 HELLS RECQL RECQL4 RECQL5 WRN
8 alzheimer disease 12 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:

54

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

Neuro:
normal intelligence

Growth:
small stature

Limbs:
absent thumbs
radial aplasia/hypoplasia

GI:
infantile diarrhea

Mouth:
cleft palate
high arched palate

Joints:
joint dislocations
stiff interphalangeal joints

Skel:
patellar aplasia/hypoplasia

Ears:
unusual ears
hearing defect

Skin:
mottled or stippled pigmentation


Clinical features from OMIM:

266280

Human phenotypes related to Rapadilino Syndrome:

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

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 (showing 3, show less)
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 UBR1 UBR2 WRN HELLS RECQL4

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:

(showing 8, show less)
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 (showing 16, show less)
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
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:

(showing 1, show less)
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:

(showing 1, show less)
id 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:

(showing 15, show less)
id Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.73 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 base-excision repair GO:0006284 9.51 RECQL4 WRN
7 DNA metabolic process GO:0006259 9.49 RECQL5 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 9.4 RECQL RECQL4
11 telomeric D-loop disassembly GO:0061820 9.37 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:

(showing 11, show less)
id 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
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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