PedAM

Pediatric Disease Annotations & Medicines


	kniest dysplasia

Disease ID	509
Disease	kniest dysplasia
Definition	A rare, autosomal dominant inherited bone growth disorder caused by mutations in the COL2A1gene. It is characterized by short stature (dwarfism) and other skeletal abnormalities, round, flat face with bulging and wide-set eyes, myopia and retinal detachment that can lead to blindness.
Synonym	kniest chondrodystrophy kniest dysplasia (disorder) kniest syndrome swiss cheese cartilage dysplasia
Orphanet	ORPHANET:485
OMIM	OMIM:156550
DOID	DOID:0080045
UMLS	C0265279
SNOMED-CT	SNOMEDCT_US_2016_09_01:53974002
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) COL2A1 \| 1280 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:11) 1158 \| CKM \| DISEASES 1311 \| COMP \| DISEASES 59341 \| TRPV4 \| DISEASES 10371 \| SEMA3A \| DISEASES 2588 \| GALNS \| DISEASES 170692 \| ADAMTS18 \| DISEASES 2331 \| FMOD \| DISEASES 1301 \| COL11A1 \| DISEASES 3339 \| HSPG2 \| DISEASES 54829 \| ASPN \| DISEASES 1280 \| COL2A1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) COL2A1 \| 12q13.11

Disease ID	509
Disease	kniest dysplasia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:65) HP:0002808 \| Kyphosis HP:0001083 \| Ectopia lentis HP:0003015 \| Metaphyseal splaying HP:0000520 \| Anterior bulging of the globe of eye HP:0001373 \| Joint dislocation HP:0003417 \| Coronal vertebral clefts HP:0002758 \| Osteoarthritis HP:0002983 \| Micromelia HP:0002812 \| Coxa vara HP:0003307 \| Hyperlordosis HP:0200003 \| Splayed end part of bone HP:0005280 \| Flat, nasal bridge HP:0003015 \| Flared metaphysis HP:0011800 \| Midface, flat HP:0001270 \| Motor retardation HP:0003037 \| Enlarged joints HP:0000488 \| Retinopathy HP:0005930 \| Abnormality of epiphysis morphology HP:0008839 \| Hypoplastic pelvic bones HP:0000926 \| Platyspondyly HP:0000545 \| Myopia HP:0000347 \| Micrognathia HP:0000520 \| Proptosis HP:0002652 \| Skeletal dysplasia HP:0000545 \| Near sightedness HP:0000501 \| Glaucoma HP:0000541 \| Retinal detachment HP:0002827 \| Hip dislocation HP:0000947 \| Dumbbell-shaped long bone HP:0000311 \| Round face HP:0008271 \| Abnormal cartilage collagen HP:0000508 \| Ptosis HP:0003273 \| Flexion contracture of hips HP:0002663 \| Delayed opacification of the epiphyses HP:0000365 \| Hearing impairment HP:0010306 \| Short thorax HP:0000162 \| Glossoptosis HP:0011800 \| Midface retrusion HP:0100625 \| Enlarged thorax HP:0005280 \| Depressed nasal bridge HP:0004619 \| Lumbar kyphoscoliosis HP:0000403 \| Otitis media, recurrent HP:0000023 \| Inguinal hernia HP:0000518 \| Cataract HP:0000655 \| Vitreoretinal degeneration HP:0000541 \| Detached retina HP:0000272 \| Depressed malar region HP:0002098 \| Respiratory distress HP:0000926 \| Flattened vertebral bodies HP:0002650 \| Scoliosis HP:0008839 \| Hypoplastic pelvis HP:0006172 \| Flattened, squared-off epiphyses of tubular bones HP:0000405 \| Conductive hearing loss HP:0000311 \| Round facial shape HP:0000470 \| Decreased cervical height HP:0000175 \| Palatoschisis HP:0001387 \| Joint stiffness HP:0001537 \| Umbilical hernias HP:0000175 \| Cleft palate HP:0000944 \| Abnormality of the metaphyses HP:0002777 \| Tracheal stenosis HP:0008905 \| Rhizomelia HP:0002779 \| Tracheomalacia HP:0001288 \| Gait disturbance HP:0003521 \| Disproportionate short-trunk short stature
Text Mined Phenotype	(Waiting for update.)

Disease ID	509
Disease	kniest dysplasia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C1963229 \| retinal detachment C1962983 \| cataract
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121912877	NA	1280	COL2A1	umls:C0265279	CLINVAR	NA	0.482714419	NA	COL2A1	12	47993825	C	T
rs587776847	NA	1280	COL2A1	umls:C0265279	CLINVAR	NA	0.482714419	NA	COL2A1	12	47987268	C	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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