MCID: RPD002
MIFTS: 41

Rapadilino Syndrome malady

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

Aliases & Classifications for Rapadilino Syndrome

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 66UMLS, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Rapadilino Syndrome:

Name: Rapadilino Syndrome 50 11 46 23 24 13 52 68 12 48 66
Absent Thumbs, Dislocated Joints, Long Face with Narrow Palpebral Fissures, Long Slender Nose, Arched Palate 46 24
Radial and Patellar Hypoplasia 46 24
 
Radial and Patellar Aplasia 46 24
Rapadilinos 68 25

Characteristics:

Orphanet epidemiological data:

52
rapadilino syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
rapadilino syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 266280
Disease Ontology11 DOID:0050774
Orphanet52 ORPHA3021
ICD10 via Orphanet29 Q87.1
MESH via Orphanet38 C535288
UMLS via Orphanet67 C1849453
MedGen35 C1849453

Summaries for Rapadilino Syndrome

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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.

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 cervix disease, and has symptoms including narrow nasal bridge, intrauterine growth retardation and malabsorption. An important gene associated with Rapadilino Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways is DNA Damage. Affiliated tissues include bone, and related mouse phenotypes are adipose tissue and endocrine/exocrine gland.

UniProtKB/Swiss-Prot:68 RAPADILINO syndrome: Disease characterized by radial and patellar aplasia or hypoplasia.

Wikipedia:69 Rapadilino syndrome is an autosomal recessivecongenital disorder characterized by radial and patellar... more...

Description from OMIM:50 266280

Related Diseases for Rapadilino Syndrome

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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

HPO human phenotypes related to Rapadilino Syndrome:

(show all 29)
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 cleft palate HP:0000175
16 high palate HP:0000218
17 long face HP:0000276
18 short chin HP:0000331
19 hearing impairment HP:0000365
20 slender nose HP:0000417
21 blepharophimosis HP:0000581
22 mottled pigmentation HP:0001070
23 joint dislocation HP:0001373
24 diarrhea HP:0002014
25 short stature HP:0004322
26 stiff interphalangeal joints HP:0005198
27 aplasia/hypoplasia of the patella HP:0006498
28 aplasia/hypoplasia of the radius HP:0006501
29 absent thumb HP:0009777

Drugs & Therapeutics for Rapadilino Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome25 23 RECQL4

Anatomical Context for Rapadilino Syndrome

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MalaCards organs/tissues related to Rapadilino Syndrome:

34
Bone

Animal Models for Rapadilino Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rapadilino Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.2HELLS, RECQL4, UBR1, WRN
2MP:00053798.0HELLS, RECQL4, UBR1, UBR2, WRN
3MP:00053846.9HELLS, RECQL, RECQL4, RECQL5, UBR1, UBR2

Publications for Rapadilino Syndrome

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Articles related to Rapadilino Syndrome:

idTitleAuthorsYear
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

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Clinvar genetic disease variations for Rapadilino Syndrome:

5 (show all 16)
id Gene Variation 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.1885_1888delCGGG (p.Arg629Serfs)deletionLikely pathogenicrs386833846GRCh37Chr 8, 145739482: 145739485
4RECQL4NM_004260.3(RECQL4): c.1887_1890delGGAG (p.Glu630Alafs)deletionLikely pathogenicrs386833847GRCh37Chr 8, 145739480: 145739483
5RECQL4NM_004260.3(RECQL4): c.1910T> C (p.Phe637Ser)single nucleotide variantLikely pathogenicrs386833848GRCh37Chr 8, 145739460: 145739460
6RECQL4NM_004260.3(RECQL4): c.2059-1G> Asingle nucleotide variantLikely pathogenicrs386833849GRCh37Chr 8, 145739097: 145739097
7RECQL4NM_004260.3(RECQL4): c.2091T> G (p.Phe697Leu)single nucleotide variantLikely pathogenicrs386833850GRCh37Chr 8, 145739064: 145739064
8RECQL4NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter)single nucleotide variantLikely pathogenic, Pathogenicrs386833851GRCh37Chr 8, 145738509: 145738509
9RECQL4NM_004260.3(RECQL4): c.3072delA (p.Val1026Cysfs)deletionLikely pathogenicrs386833852GRCh37Chr 8, 145737691: 145737691
10RECQL4NM_004260.3(RECQL4): c.3214A> T (p.Arg1072Ter)single nucleotide variantLikely pathogenicrs386833853GRCh37Chr 8, 145737549: 145737549
11RECQL4NM_004260.3(RECQL4): c.3271C> T (p.Gln1091Ter)single nucleotide variantLikely pathogenicrs137853230GRCh37Chr 8, 145737416: 145737416
12RECQL4NM_004260.3(RECQL4): c.3599_3600delCG (p.Thr1200Argfs)deletionLikely pathogenicrs386833854GRCh37Chr 8, 145736841: 145736842
13RECQL4NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs)deletionLikely pathogenic, Pathogenicrs386833845GRCh38Chr 8, 144514983: 144514983
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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Search GEO for disease gene expression data for Rapadilino Syndrome.

Pathways for genes affiliated with Rapadilino Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
18.7RECQL, RECQL4, RECQL5, WRN

GO Terms for genes affiliated with Rapadilino Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1chromosomeGO:00056949.1RECQL, RECQL4, RECQL5

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1double-strand break repairGO:000630210.1RECQL4, WRN
2DNA strand renaturationGO:000073310.0RECQL, RECQL4
3base-excision repairGO:000628410.0RECQL4, WRN
4double-strand break repair via homologous recombinationGO:00007249.9RECQL, RECQL5
5cellular response to leucineGO:00712339.7UBR1, UBR2
6chromatin silencingGO:00063429.7HELLS, UBR2
7ubiquitin-dependent protein catabolic process via the N-end rule pathwayGO:00715969.7UBR1, UBR2
8DNA metabolic processGO:00062599.6RECQL5, WRN
9negative regulation of TOR signalingGO:00320079.4UBR1, UBR2
10DNA repairGO:00062819.3RECQL, RECQL4, RECQL5
11DNA replicationGO:00062609.0RECQL4, RECQL5, WRN
12DNA duplex unwindingGO:00325088.9RECQL, RECQL4, RECQL5, WRN

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1bubble DNA bindingGO:000040510.4RECQL4, WRN
2annealing helicase activityGO:003631010.1RECQL, RECQL4
3ATP-dependent DNA helicase activityGO:00040039.9RECQL, WRN
4helicase activityGO:00043869.8HELLS, WRN
5leucine bindingGO:00707289.8UBR1, UBR2
6DNA helicase activityGO:00036789.4RECQL, RECQL5, WRN
7four-way junction helicase activityGO:00093789.3RECQL, RECQL4, RECQL5, WRN
8ATP-dependent 3-5 DNA helicase activityGO:00431409.3RECQL, RECQL4, RECQL5, WRN
9ATP bindingGO:00055248.3HELLS, RECQL, RECQL4, RECQL5, WRN

Sources for Rapadilino Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet