MCID: RPD002
MIFTS: 43

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:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Rapadilino Syndrome:

Name: Rapadilino Syndrome 49 10 11 45 22 23 47 12 51 24 65 67
Absent Thumbs, Dislocated Joints, Long Face with Narrow Palpebral Fissures, Long Slender Nose, Arched Palate 45 23
Radial and Patellar Hypoplasia 45 23
 
Radial and Patellar Aplasia 45 23
Rapadilinos 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
rapadilino syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 266280
Disease Ontology10 DOID:0050774
Orphanet51 3021
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C535288
UMLS via Orphanet66 C1849453
MedGen34 C1849453

Summaries for Rapadilino Syndrome

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Genetics Home Reference:23 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 rothmund-thomson syndrome and baller-gerold syndrome, and has symptoms including narrow nasal bridge, intrauterine growth retardation and malabsorption. An important gene associated with Rapadilino Syndrome is RECQL4 (RecQ Helicase-Like 4), and among its related pathways is DNA Damage. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and adipose tissue.

UniProtKB/Swiss-Prot:67 RAPADILINO syndrome: Disease characterized by radial and patellar aplasia or hypoplasia.

Wikipedia:68 Rapadilino syndrome is an autosomal recessivecongenital disorder characterized by radial and patellar... more...

Description from OMIM:49 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

Symptoms:

 51 (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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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 Syndrome22 24 RECQL4

Anatomical Context for Rapadilino Syndrome

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MalaCards organs/tissues related to Rapadilino Syndrome:

33
Bone

Animal Models for Rapadilino Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rapadilino Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.3HELLS, KAT6B, RECQL4, WRN
2MP:00053759.0HELLS, KAT6B, UBR1, WRN
3MP:00107687.0FERMT1, HELLS, KAT6B, RECQL4, UBR1, UBR2
4MP:00053786.8FERMT1, HELLS, KAT6B, RECQL4, UBR1, UBR2
5MP:00053846.2FERMT1, HELLS, KAT6B, RECQL, RECQL4, RECQL5

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, Pathogenicrs386833845GRCh37Chr 8, 145740367: 145740367
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
18.8RECQL, RECQL4, RECQL5, WRN

GO Terms for genes affiliated with Rapadilino Syndrome

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1DNA strand renaturationGO:000073310.2RECQL, RECQL4
2chromatin silencingGO:00063429.9HELLS, UBR2
3negative regulation of TOR signalingGO:00320079.6UBR1, UBR2
4cellular response to leucineGO:00712339.6UBR1, UBR2
5ubiquitin-dependent protein catabolic process via the N-end rule pathwayGO:00715969.6UBR1, UBR2
6DNA metabolic processGO:00062599.6RECQL5, WRN
7protein catabolic processGO:00301639.5UBR1, UBR2
8DNA recombinationGO:00063109.2RECQL, RECQL4, RECQL5, WRN
9DNA duplex unwindingGO:00325088.8RECQL, RECQL4, RECQL5, WRN
10DNA replicationGO:00062608.7RECQL, RECQL4, RECQL5, WRN
11DNA repairGO:00062818.5RECQL, 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:003631010.3RECQL, RECQL4
3ATP-dependent DNA helicase activityGO:000400310.1RECQL, WRN
4helicase activityGO:000438610.0HELLS, WRN
5ATP-dependent 3-5 DNA helicase activityGO:00431409.9RECQL, RECQL4, WRN
6leucine bindingGO:00707289.7UBR1, UBR2
7DNA helicase activityGO:00036789.4RECQL, RECQL5, WRN
8ATP-dependent helicase activityGO:00080269.1RECQL, RECQL4, RECQL5, WRN
9ATP bindingGO:00055248.5HELLS, RECQL, RECQL4, RECQL5, WRN

Sources for Rapadilino Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet