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encyclopedia of Rare Disease Annotation for Precision Medicine



   pseudoachondroplasia
  

Disease ID 234
Disease pseudoachondroplasia
Definition
A rare, autosomal dominant inherited disorder caused by mutations in the COMP gene. It is characterized by short stature, short arms and legs, waddling walk, osteoarthritis, and limited range of motion at the elbows and hips.
Synonym
psach
pseudoachondroplastic dysplasia
pseudoachondroplastic spondyloepiphyseal dysplasia
pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder)
sed syndrome
spondyloepiphyseal dysplasia, pseudoachondroplastic
Orphanet
OMIM
DOID
UMLS
C0410538
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:2)
C0026848  |  myopathy  |  1
C0265343  |  vertebral anomalies  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
1311  |  COMP  |  CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
1311  |  COMP  |  CIPHER;CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:28)
176  |  ACAN  |  3.937  |  DISEASES
650  |  BMP2  |  1.532  |  DISEASES
801  |  CALM1  |  3.619  |  DISEASES
961  |  CD47  |  1.241  |  DISEASES
1301  |  COL11A1  |  2.577  |  DISEASES
1302  |  COL11A2  |  2.917  |  DISEASES
1280  |  COL2A1  |  3.711  |  DISEASES
1297  |  COL9A1  |  4.222  |  DISEASES
1298  |  COL9A2  |  4.944  |  DISEASES
1299  |  COL9A3  |  4.694  |  DISEASES
1649  |  DDIT3  |  1.635  |  DISEASES
2261  |  FGFR3  |  2.735  |  DISEASES
2331  |  FMOD  |  2.828  |  DISEASES
6624  |  FSCN1  |  1.038  |  DISEASES
2993  |  GYPA  |  1.191  |  DISEASES
9235  |  IL32  |  1.34  |  DISEASES
54900  |  LAX1  |  2.862  |  DISEASES
987  |  LRBA  |  1.45  |  DISEASES
4146  |  MATN1  |  2.086  |  DISEASES
4148  |  MATN3  |  5.666  |  DISEASES
8785  |  MATN4  |  3.531  |  DISEASES
5034  |  P4HB  |  2.175  |  DISEASES
9672  |  SDC3  |  2.404  |  DISEASES
6473  |  SHOX  |  1.554  |  DISEASES
6651  |  SON  |  2.737  |  DISEASES
6660  |  SOX5  |  2.14  |  DISEASES
7059  |  THBS3  |  3.92  |  DISEASES
51341  |  ZBTB7A  |  2.052  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
COMP  |  19p13.11
Disease ID 234
Disease pseudoachondroplasia
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:25)
HP:0008873  |  Disproportionate short-limb short stature
HP:0004390  |  Hamartomatous polyposis
HP:0006487  |  Bowing of the long bones
HP:0200008  |  Intestinal polyposis
HP:0005930  |  Abnormality of epiphysis morphology
HP:0004236  |  Irregular carpal bones
HP:0003311  |  Hypoplasia of the odontoid process
HP:0002829  |  Arthralgia
HP:0002970  |  Genu varum
HP:0003307  |  Hyperlordosis
HP:0005692  |  Joint hyperflexibility
HP:0004279  |  Short palm
HP:0010049  |  Short metacarpal
HP:0001773  |  Short foot
HP:0001288  |  Gait disturbance
HP:0002650  |  Scoliosis
HP:0003272  |  Abnormality of the hip bone
HP:0002758  |  Osteoarthritis
HP:0002808  |  Kyphosis
HP:0000926  |  Platyspondyly
HP:0002857  |  Genu valgum
HP:0001379  |  Degenerative joint disease
HP:0002750  |  Delayed skeletal maturation
HP:0000944  |  Abnormality of the metaphyses
HP:0002983  |  Micromelia
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:9)
HP:0003198  |  Myopathic changes  |  2
HP:0003510  |  Proportionate dwarfism  |  2
HP:0001824  |  Weight loss  |  1
HP:0010442  |  Polydactyly  |  1
HP:0008873  |  Dwarfism, short-limbed  |  1
HP:0001388  |  Joint laxity  |  1
HP:0012531  |  Pain  |  1
HP:0003468  |  Vertebral anomalies  |  1
HP:0004322  |  Stature below 3rd percentile  |  1
Disease ID 234
Disease pseudoachondroplasia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:3)
C0410652  |  cervical spine instability
C0149645  |  cervical myelopathy
C0013336  |  dwarfism
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Manually Genotypes:1)
Gene Mutation DOI Article Title
COMPc.1371_1373del, p.E457deldoi:10.1038/gim.2015.129Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing
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
rs137852650NA1311COMPumls:C0410538CLINVARNA0.581292018NACOMP1918786040CA
rs137852650128190151311COMPumls:C0410538BeFreePathological accumulation of COMP in rER and apoptosis in COS7 cells that were induced by the mutation (D472Y) in COMP imply that COMP mutations play a role in the pathogenesis of PSACH.0.5812920182003COMP1918786040CA
rs137852651NA1311COMPumls:C0410538CLINVARNA0.581292018NACOMP1918786051CT
rs137852653NA1311COMPumls:C0410538CLINVARNA0.581292018NACOMP1918787644AG
rs137852655NA1311COMPumls:C0410538CLINVARNA0.581292018NACOMP1918783125CT
rs137852656NA1311COMPumls:C0410538CLINVARNA0.581292018NACOMP1918787584AG
rs28936669NA1311COMPumls:C0410538UNIPROTNA0.581292018NACOMP1918786036TC
rs312262897NA1311COMPumls:C0410538CLINVARNA0.581292018NACOMP1918786035GTC-
rs312262898NA1311COMPumls:C0410538CLINVARNA0.581292018NACOMP1918786034-GTC
rs312262899NA1311COMPumls:C0410538CLINVARNA0.581292018NACOMP1918785063CT
rs312262900NA1311COMPumls:C0410538CLINVARNA0.581292018NACOMP1918785056GT,C,A
rs312262901NA1311COMPumls:C0410538CLINVARNA0.581292018NACOMP1918785050TC
rs312262903NA1311COMPumls:C0410538CLINVARNA0.581292018NACOMP1918785755GA
rs312262904NA1311COMPumls:C0410538CLINVARNA0.581292018NACOMP1918783126CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:10)
HP ID HP Name MP ID MP Name Annotation
HP:0003311Hypoplasia of the odontoid processMP:0014164abnormal ciliary process morphology any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter
HP:0006487Bowing of the long bonesMP:0013621decreased internal diameter of femurreduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
HP:0001379Degenerative joint diseaseMP:0002932abnormal joint morphologyany structural anomaly of the moveable articulation point of two or more bones
HP:0001773Short footMP:0008138absent podocyte foot processabsence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries
HP:0005930Abnormality of epiphysis morphologyMP:0013621decreased internal diameter of femurreduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
HP:0003272Abnormality of the hip boneMP:0009536abnormal interstitial cell of Cajal morphologyany structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which
HP:0000944Abnormality of the metaphysesMP:0013621decreased internal diameter of femurreduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
HP:0010049Short metacarpalMP:0004634short metacarpal bonesreduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges
HP:0008873Disproportionate short-limb short statureMP:0004672short ribsreduced length of the bones forming the bony wall of the chest
HP:0002750Delayed skeletal maturationMP:0003379absent sexual maturationfailure to initiate pubertal changes that result in achievement of full sexual capacity
Mapped by homologous gene(Total Items:25)
HP ID HP Name MP ID MP Name Annotation
HP:0002650ScoliosisMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0005930Abnormality of epiphysis morphologyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001773Short footMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0002758OsteoarthritisMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0003307HyperlordosisMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001288Gait disturbanceMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0008873Disproportionate short-limb short statureMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0010049Short metacarpalMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002970Genu varumMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002857Genu valgumMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001379Degenerative joint diseaseMP:0012305umbilical cord hemorrhagebleeding into or from the umbilical cord
HP:0006487Bowing of the long bonesMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002829ArthralgiaMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002983MicromeliaMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0003311Hypoplasia of the odontoid processMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0004279Short palmMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0004236Irregular carpal bonesMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0200008Intestinal polyposisMP:0014171increased fatty acid oxidationincreased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0000926PlatyspondylyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0004390Hamartomatous polyposisMP:0014171increased fatty acid oxidationincreased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0002750Delayed skeletal maturationMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0005692Joint hyperflexibilityMP:0012125decreased bronchoconstrictive responsereduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography
HP:0002808KyphosisMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0003272Abnormality of the hip boneMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000944Abnormality of the metaphysesMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
Disease ID 234
Disease pseudoachondroplasia
Case(Waiting for update.)