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encyclopedia of Rare Disease Annotation for Precision Medicine



   rapadilino syndrome
  

Disease ID 482
Disease rapadilino syndrome
Definition
Rapadilino syndrome is an autosomal recessive congenital disorder characterized by radial and patellar aplasia, short stature, arched or cleft palate, limb malformation, and dislocated joints It is more prevalent in Finland than elsewhere in the world.It has been associated with RECQL This is also associated with Rothmund-Thomson syndrome and Baller-Gerold syndrome. - NORD
Reference: NORD
Synonym
radial and patellar aplasia
radial and patellar hypoplasia
rapadilino - radial ray malformations, patella and palate abnormalities, diarrhea and dislocated joints, limb abnormalities and little size, slender nose and normal intelligence
rapadilino - radial ray malformations, patella and palate abnormalities, diarrhoea and dislocated joints, limb abnormalities and little size, slender nose and normal intelligence
rapadilino syndrome (disorder)
Orphanet
OMIM
DOID
UMLS
C1849453
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
9401  |  RECQL4  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:2)
5965  |  RECQL  |  4.223  |  DISEASES
23304  |  UBR2  |  5.226  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
RECQL4  |  8q24.3
Disease ID 482
Disease rapadilino syndrome
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:15)
HP:0002705  |  High, narrow palate
HP:0006501  |  Absent/underdeveloped radius
HP:0001373  |  Joint dislocations
HP:0004322  |  Stature below 3rd percentile
HP:0005198  |  Stiff interphalangeal joints
HP:0009777  |  Absent thumbs
HP:0000581  |  Blepharophimosis
HP:0002014  |  Diarrhea
HP:0000276  |  Long face
HP:0000365  |  Hearing impairment
HP:0001070  |  Mottled pigmentation
HP:0000175  |  Palatoschisis
HP:0000331  |  Decreased height of chin
HP:0006498  |  Absent/underdeveloped kneecap
HP:0000417  |  Slender nose
Text Mined Phenotype(Waiting for update.)
Disease ID 482
Disease rapadilino syndrome
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:14)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs137853230NA9401RECQL4umls:C1849453CLINVARNA0.361628651NARECQL48144512033GA
rs137853231NA9401RECQL4umls:C1849453CLINVARNA0.361628651NARECQL4;LRRC148144516313CT,G
rs386833843NA9401RECQL4umls:C1849453CLINVARNA0.361628651NARECQL48144515324A-
rs386833844NA9401RECQL4umls:C1849453CLINVARNA0.361628651NARECQL48144515236GA
rs386833845NA9401RECQL4umls:C1849453CLINVARNA0.361628651NARECQL48144514983A-
rs386833846NA9401RECQL4umls:C1849453CLINVARNA0.361628651NARECQL48144514098CCCG-
rs386833847NA9401RECQL4umls:C1849453CLINVARNA0.361628651NARECQL48144514096CTCC-
rs386833848NA9401RECQL4umls:C1849453CLINVARNA0.361628651NARECQL48144514076AG
rs386833849NA9401RECQL4umls:C1849453CLINVARNA0.361628651NARECQL48144513713CT
rs386833850NA9401RECQL4umls:C1849453CLINVARNA0.361628651NARECQL48144513680AC
rs386833851NA9401RECQL4umls:C1849453CLINVARNA0.361628651NARECQL48144513126GA
rs386833852NA9401RECQL4umls:C1849453CLINVARNA0.361628651NARECQL48144512308T-
rs386833853NA9401RECQL4umls:C1849453CLINVARNA0.361628651NARECQL48144512166TG,A
rs386833854NA9401RECQL4umls:C1849453CLINVARNA0.361628651NARECQL4;MFSD38144511458CG-
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:5)
HP ID HP Name MP ID MP Name Annotation
HP:0001070Mottled pigmentationMP:0005174abnormal tail pigmentationanomaly in the coloration of the tail due to changes in the amount, shape, or distribution of cells producing pigment
HP:0006498Aplasia/Hypoplasia of the patellaMP:0005359growth retardation of incisorsdevelopmental delay of the growth of the incisors, the long pointed teeth, most anterior and prominent in the jaw
HP:0000175Cleft palateMP:0013550abnormal secondary palate morphology
HP:0000276Long faceMP:0012546triangular facea face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia
HP:0006501Aplasia/Hypoplasia of the radiusMP:0012167abnormal epigenetic regulation of gene expressionany anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA
Mapped by homologous gene(Total Items:15)
HP ID HP Name MP ID MP Name Annotation
HP:0005198Stiff interphalangeal jointsMP:0012431increased lymphoma incidencegreater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period
HP:0000331Short chinMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0009777Absent thumbMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000581BlepharophimosisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000276Long faceMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0006498Aplasia/Hypoplasia of the patellaMP:0013886increased CD4-negative, CD25-positive NK T cell numberincrease in the number of CD4-negative NK T cells expressing the activation marker CD25
HP:0000175Cleft palateMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000365Hearing impairmentMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002014DiarrheaMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0006501Aplasia/Hypoplasia of the radiusMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001070Mottled pigmentationMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0004322Short statureMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001373Joint dislocationMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000417Slender noseMP:0013787photophobia abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e
HP:0002705High, narrow palateMP:0013600testis degenerationa retrogressive impairment of function or destruction of either or both of the male reproductive glands
Disease ID 482
Disease rapadilino syndrome
Case(Waiting for update.)