MCID: RPD002
MIFTS: 39

Rapadilino Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Smell/Taste diseases categories

Aliases & Classifications for Rapadilino Syndrome

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Rapadilino Syndrome, Aliases & Descriptions:

Name: Rapadilino Syndrome 45 9 10 41 20 21 11 43 47 22 60
Absent Thumbs, Dislocated Joints, Long Face with Narrow Palpebral Fissures, Long Slender Nose, Arched Palate 41 21
 
Radial and Patellar Hypoplasia 41 21
Radial and Patellar Aplasia 41 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
rapadilino syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 266280
Disease Ontology9 DOID:0050774
Orphanet47 3021
MESH via Orphanet34 C535288
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet61 C1849453

Summaries for Rapadilino Syndrome

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Genetics Home Reference:21 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 protein-like 4), and among its related pathways is Cell Cycle / Checkpoint Control. The compound hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotype cellular.

Wikipedia:63 Rapadilino syndrome is an autosomal recessivecongenital disorder characterized by radial and patellar... more...

Description from OMIM:45 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 syndrome30.0RECQL5, RECQL, RECQL4
2leukemia10.1
3lymphoblastic leukemia10.1
4cataract10.0RECQL4, WRN
5imperforate anus10.0UBR1
6johanson-blizzard syndrome9.8UBR2, UBR1
7rothmund-thomson syndrome9.6RECQL5, RECQL, RECQL4, WRN
8bloom syndrome9.6RECQL, RECQL4, WRN, RECQL5
9werner syndrome9.6WRN, RECQL4, RECQL5, RECQL

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

Symptoms:

 47 (show all 17)
  • narrow nasal bridge
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • thumb hypoplasia/aplasia/absence
  • patella absent/abnormal (excluding luxation)
  • malabsorption/chronic diarrhea/steatorrhea
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • high vaulted/narrow palate
  • cafe-au-lait spot
  • hyperextensible joints/articular hyperlaxity
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • hearing loss/hypoacusia/deafness
  • vertebral segmentation anomaly/hemivertebrae
  • sarcoma
  • lymphoma

HPO human phenotypes related to Rapadilino Syndrome:

(show all 30)
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 autosomal recessive inheritance HP:0000007
16 cleft palate HP:0000175
17 high palate HP:0000218
18 long face HP:0000276
19 short chin HP:0000331
20 hearing impairment HP:0000365
21 slender nose HP:0000417
22 blepharophimosis HP:0000581
23 mottled pigmentation HP:0001070
24 joint dislocation HP:0001373
25 diarrhea HP:0002014
26 short stature HP:0004322
27 stiff interphalangeal joints HP:0005198
28 aplasia/hypoplasia of the patella HP:0006498
29 aplasia/hypoplasia of the radius HP:0006501
30 absent thumb HP:0009777

Drugs & Therapeutics for Rapadilino Syndrome

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Drug clinical trials:

Search ClinicalTrials for Rapadilino Syndrome

Search 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 Syndrome20 22 RECQL4

Anatomical Context for Rapadilino Syndrome

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MalaCards organs/tissues related to Rapadilino Syndrome:

31
Bone

Animal Models for Rapadilino Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rapadilino Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.1UBR1, UBR2, RECQL5, RECQL, RECQL4, WRN

Publications for Rapadilino Syndrome

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Articles related to Rapadilino Syndrome:

idTitleAuthorsYear
1
Osteosarcoma following growth hormone therapy in recurrent acute lymphoblastic leukemia and Rapadilino syndrome. (22475304)
2012
2
RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. (15317757)
2004
3
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. (12952869)
2003
4
RAPADILINO syndrome: a multiple malformation syndrome with radial and patellar aplasia. (10413338)
1999
5
Rapadilino syndrome--a non-Finnish case. (9571286)
1998
6
RAPADILINO syndrome. (1481838)
1992
7
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:

6 (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.1573delT (p.Cys525Alafs)deletionLikely pathogenicrs386833845GRCh37Chr 8, 145740367: 145740367
4RECQL4NM_004260.3(RECQL4): c.1885_1888delCGGG (p.Arg629Serfs)deletionLikely pathogenicrs386833846GRCh37Chr 8, 145739482: 145739485
5RECQL4NM_004260.3(RECQL4): c.1887_1890delGGAG (p.Glu630Alafs)deletionLikely pathogenicrs386833847GRCh37Chr 8, 145739480: 145739483
6RECQL4NM_004260.3(RECQL4): c.1910T> C (p.Phe637Ser)single nucleotide variantLikely pathogenicrs386833848GRCh37Chr 8, 145739460: 145739460
7RECQL4NM_004260.3(RECQL4): c.2059-1G> Asingle nucleotide variantLikely pathogenicrs386833849GRCh37Chr 8, 145739097: 145739097
8RECQL4NM_004260.3(RECQL4): c.2091T> G (p.Phe697Leu)single nucleotide variantLikely pathogenicrs386833850GRCh37Chr 8, 145739064: 145739064
9RECQL4NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter)single nucleotide variantLikely pathogenic, Pathogenicrs386833851GRCh37Chr 8, 145738509: 145738509
10RECQL4NM_004260.3(RECQL4): c.3072delA (p.Val1026Cysfs)deletionLikely pathogenicrs386833852GRCh37Chr 8, 145737691: 145737691
11RECQL4NM_004260.3(RECQL4): c.3214A> T (p.Arg1072Ter)single nucleotide variantLikely pathogenicrs386833853GRCh37Chr 8, 145737549: 145737549
12RECQL4NM_004260.3(RECQL4): c.3271C> T (p.Gln1091Ter)single nucleotide variantLikely pathogenicrs137853230GRCh37Chr 8, 145737416: 145737416
13RECQL4NM_004260.3(RECQL4): c.3599_3600delCG (p.Thr1200Argfs)deletionLikely pathogenicrs386833854GRCh37Chr 8, 145736841: 145736842
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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.2RECQL5, RECQL, RECQL4, WRN

Compounds for genes affiliated with Rapadilino Syndrome

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Sources:
43Novoseek, 49PharmGKB, 12DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1hydroxyurea43 49 1211.6RECQL4, 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
1ubiquitin ligase complexGO:00001519.1UBR1, UBR2
2nucleolusGO:00057308.1UBR2, RECQL5, RECQL, WRN

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cellular response to leucineGO:00712339.5UBR2, UBR1
2DNA strand renaturationGO:00007339.5RECQL, RECQL4
3negative regulation of TOR signalingGO:00320079.4UBR1, UBR2
4ubiquitin-dependent protein catabolic processGO:00065119.4UBR1, UBR2
5DNA metabolic processGO:00062599.1WRN, RECQL5
6DNA duplex unwindingGO:00325088.4RECQL5, RECQL, RECQL4, WRN
7DNA recombinationGO:00063108.3WRN, RECQL4, RECQL, RECQL5
8DNA repairGO:00062818.3RECQL5, RECQL, RECQL4
9DNA replicationGO:00062608.3RECQL5, RECQL, RECQL4, WRN

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1bubble DNA bindingGO:00004059.6WRN, RECQL4
2leucine bindingGO:00707289.5UBR1, UBR2
3annealing helicase activityGO:00363109.3RECQL, RECQL4
4ATP-dependent 3-5 DNA helicase activityGO:00431409.1RECQL, RECQL4, WRN
5ATP-dependent DNA helicase activityGO:00040039.1RECQL, WRN
6DNA helicase activityGO:00036788.7RECQL5, RECQL, WRN
7ATP bindingGO:00055248.2RECQL5, RECQL, RECQL4, WRN

Products for genes affiliated with Rapadilino Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Rapadilino Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet