MCID: RPD002
MIFTS: 39

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:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Rapadilino Syndrome:

Name: Rapadilino Syndrome 52 11 48 24 25 54 70 12 50 13 68
Absent Thumbs, Dislocated Joints, Long Face with Narrow Palpebral Fissures, Long Slender Nose, Arched Palate 48 25
Radial and Patellar Hypoplasia 48 25
 
Radial and Patellar Aplasia 48 25
Rapadilinos 70 27

Characteristics:

Orphanet epidemiological data:

54
rapadilino syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
rapadilino syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 266280
Disease Ontology11 DOID:0050774
Orphanet54 ORPHA3021
MESH via Orphanet40 C535288
UMLS via Orphanet69 C1849453
ICD10 via Orphanet31 Q87.1
MedGen37 C1849453

Summaries for Rapadilino Syndrome

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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 leukemia, 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 Increased viability with MLN4924 (a NAE inhibitor) and adipose tissue.

UniProtKB/Swiss-Prot:70 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:52 266280

Related Diseases for Rapadilino Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1baller-gerold syndrome27.3HELLS, KAT6B, RECQL, RECQL4, RECQL5, UBR1
2leukemia9.8
3lymphoblastic leukemia9.8
4cervix disease9.8HELLS, WRN
5microcephaly 4, primary, autosomal recessive9.6UBR1, UBR2
6acrodermatitis enteropathica9.0RECQL, RECQL4, RECQL5, WRN
7alzheimer disease 128.7HELLS, RECQL, RECQL4, RECQL5, WRN
8arthrogryposis, renal dysfunction, and cholestasis 18.7HELLS, RECQL, RECQL4, RECQL5, WRN

Graphical network of diseases related to Rapadilino Syndrome:



Diseases related to rapadilino syndrome

Symptoms & Phenotypes for Rapadilino Syndrome

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Symptoms by clinical synopsis from OMIM:

266280

Clinical features from OMIM:

266280

Human phenotypes related to Rapadilino Syndrome:

 64 (show all 25)
id Description HPO Frequency HPO Source Accession
1 narrow nasal bridge64 hallmark (90%) HP:0000446
2 intrauterine growth retardation64 hallmark (90%) HP:0001511
3 malabsorption64 hallmark (90%) HP:0002024
4 short stature64 hallmark (90%) HP:0004322
5 patellar aplasia64 hallmark (90%) HP:0006443
6 aplasia/hypoplasia of the radius64 hallmark (90%) HP:0006501
7 aplasia/hypoplasia of the thumb64 hallmark (90%) HP:0009601
8 cafe-au-lait spot64 typical (50%) HP:0000957
9 joint hypermobility64 typical (50%) HP:0001382
10 cleft palate64 occasional (7.5%) HP:0000175
11 hearing impairment64 occasional (7.5%) HP:0000365
12 lymphoma64 occasional (7.5%) HP:0002665
13 vertebral segmentation defect64 occasional (7.5%) HP:0003422
14 sarcoma64 occasional (7.5%) HP:0100242
15 high palate64 HP:0000218
16 long face64 HP:0000276
17 short chin64 HP:0000331
18 slender nose64 HP:0000417
19 blepharophimosis64 HP:0000581
20 mottled pigmentation64 HP:0001070
21 joint dislocation64 HP:0001373
22 diarrhea64 HP:0002014
23 stiff interphalangeal joints64 HP:0005198
24 aplasia/hypoplasia of the patella64 HP:0006498
25 absent thumb64 HP:0009777

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-38.5RECQL, RECQL4, RECQL5, WRN

MGI Mouse Phenotypes related to Rapadilino Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.5HELLS, RECQL4, UBR1, WRN
2MP:00053798.9HELLS, RECQL4, UBR1, UBR2, WRN
3MP:00053847.7HELLS, RECQL, RECQL4, RECQL5, UBR1, UBR2

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 Syndrome27 24 RECQL4

Anatomical Context for Rapadilino Syndrome

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MalaCards organs/tissues related to Rapadilino Syndrome:

36
Bone

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)SNVLikely 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)SNVLikely pathogenicrs386833848GRCh37Chr 8, 145739460: 145739460
6RECQL4NM_004260.3(RECQL4): c.2059-1G> ASNVLikely pathogenicrs386833849GRCh37Chr 8, 145739097: 145739097
7RECQL4NM_004260.3(RECQL4): c.2091T> G (p.Phe697Leu)SNVLikely pathogenicrs386833850GRCh37Chr 8, 145739064: 145739064
8RECQL4NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter)SNVLikely 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)SNVLikely pathogenicrs386833853GRCh37Chr 8, 145737549: 145737549
11RECQL4NM_004260.3(RECQL4): c.3271C> T (p.Gln1091Ter)SNVLikely 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, Pathogenicrs386833845GRCh37Chr 8, 145740367: 145740367
14RECQL4RECQL4, IVS7, 1-BP DEL, +2deletionPathogenicChr na, -1: -1
15RECQL4RECQL4, GLU1091TERSNVPathogenicChr na, -1: -1
16RECQL4NM_004260.3(RECQL4): c.806G> A (p.Trp269Ter)SNVPathogenicrs137853231GRCh37Chr 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
18.5RECQL, 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:00056949.4RECQL, RECQL4, RECQL5
2ubiquitin ligase complexGO:00001519.3UBR1, UBR2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1base-excision repairGO:000628410.4RECQL4, WRN
2DNA metabolic processGO:000625910.3RECQL5, WRN
3double-strand break repairGO:000630210.3RECQL4, WRN
4chromatin silencingGO:000634210.2HELLS, UBR2
5cellular response to leucineGO:007123310.0UBR1, UBR2
6DNA strand renaturationGO:00007339.9RECQL, RECQL4
7DNA replicationGO:00062609.9RECQL4, RECQL5, WRN
8double-strand break repair via homologous recombinationGO:00007249.6RECQL, RECQL5
9DNA repairGO:00062819.5RECQL, RECQL4, RECQL5
10negative regulation of TOR signalingGO:00320079.3UBR1, UBR2
11ubiquitin-dependent protein catabolic process via the N-end rule pathwayGO:00715969.3UBR1, UBR2
12DNA duplex unwindingGO:00325089.2RECQL, 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:000040510.3RECQL4, WRN
2annealing helicase activityGO:003631010.0RECQL, RECQL4
3ATP-dependent DNA helicase activityGO:00040039.9RECQL, WRN
4helicase activityGO:00043869.8HELLS, WRN
5DNA helicase activityGO:00036789.4RECQL, RECQL5, WRN
6leucine bindingGO:00707289.3UBR1, UBR2
7ATP-dependent 3-5 DNA helicase activityGO:00431409.1RECQL, RECQL4, RECQL5, WRN
8four-way junction helicase activityGO:00093789.0RECQL, RECQL4, RECQL5, WRN
9ATP bindingGO:00055248.7HELLS, RECQL, RECQL4, RECQL5, WRN

Sources for Rapadilino Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet