MCID: RPD002
MIFTS: 40

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:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Rapadilino Syndrome:

Name: Rapadilino Syndrome 49 10 11 45 22 23 47 12 51 67 65
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 24

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
rapadilino syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



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
UMLS65 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 baller-gerold syndrome and obesity, and has symptoms including aplasia/hypoplasia of the thumb, aplasia/hypoplasia of the radius and patellar aplasia. An important gene associated with Rapadilino Syndrome is RECQL4 (RecQ Like Helicase 4). Affiliated tissues include bone and breast, and related mouse phenotype cellular.

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 29)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
2 aplasia/hypoplasia of the radius hallmark (90%) HP:0006501
3 patellar aplasia hallmark (90%) HP:0006443
4 short stature hallmark (90%) HP:0004322
5 malabsorption hallmark (90%) HP:0002024
6 intrauterine growth retardation hallmark (90%) HP:0001511
7 narrow nasal bridge hallmark (90%) HP:0000446
8 joint hypermobility typical (50%) HP:0001382
9 cafe-au-lait spot typical (50%) HP:0000957
10 sarcoma occasional (7.5%) HP:0100242
11 vertebral segmentation defect occasional (7.5%) HP:0003422
12 lymphoma occasional (7.5%) HP:0002665
13 hearing impairment occasional (7.5%) HP:0000365
14 cleft palate occasional (7.5%) HP:0000175
15 absent thumb HP:0009777
16 aplasia/hypoplasia of the radius HP:0006501
17 aplasia/hypoplasia of the patella HP:0006498
18 stiff interphalangeal joints HP:0005198
19 short stature HP:0004322
20 diarrhea HP:0002014
21 joint dislocation HP:0001373
22 mottled pigmentation HP:0001070
23 blepharophimosis HP:0000581
24 slender nose HP:0000417
25 hearing impairment HP:0000365
26 short chin HP:0000331
27 long face HP:0000276
28 high palate HP:0000218
29 cleft palate HP:0000175

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 RECQL4

Anatomical Context for Rapadilino Syndrome

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MalaCards organs/tissues related to Rapadilino Syndrome:

33
Bone, Breast

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:00053847.2RECQL, RECQL4, RECQL5, UBR1, UBR2, WRN

Publications for Rapadilino Syndrome

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Articles related to Rapadilino Syndrome:

idTitleAuthorsYear
1
Reprogramming of the ERRI+ and ERI+ target gene landscape triggers tamoxifen resistance in breast cancer. (25643697)
2015
2
Negative Pressure Pulmonary Edema after Electroconvulsive Therapy. (26579637)
2015
3
Parkinson's disease biomarker: a patent evaluation of WO2013153386. (24962176)
2014
4
Phonological generalizations in dyslexia: The phonological grammar may not be impaired. (24344815)
2013
5
Resveratrol protects against age-associated infertility in mice. (23293221)
2013
6
A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation. (19650864)
2009
7
Protective effect of noninherited maternal HLA-DR antigens on rheumatoid arthritis development. (18077428)
2007
8

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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GO Terms for genes affiliated with Rapadilino Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1base-excision repairGO:00062849.9RECQL4, WRN
2DNA strand renaturationGO:00007339.8RECQL, RECQL4
3DNA replicationGO:00062609.5RECQL5, WRN
4cellular response to leucineGO:00712339.0UBR1, UBR2
5negative regulation of TOR signalingGO:00320078.9UBR1, UBR2
6double-strand break repair via homologous recombinationGO:00007248.7RECQL, RECQL5, WRN

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

idNameGO IDScoreTop Affiliating Genes
1ATP-dependent helicase activityGO:000802610.2RECQL4, WRN
2DNA helicase activityGO:000367810.0RECQL5, WRN
3four-way junction helicase activityGO:00093789.5RECQL, RECQL5, WRN
4nucleic acid bindingGO:00036769.1RECQL, RECQL5, WRN
5DNA bindingGO:00036779.0RECQL, 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