PedAM

Pediatric Disease Annotations & Medicines


	campomelic dysplasia

Disease ID	253
Disease	campomelic dysplasia
Definition	A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene.
Synonym	campomelic dwarfism campomelic dwarfisms campomelic dysplasia [disease/finding] campomelic dysplasias campomelic syndrome campomelic syndromes camptomelic dysplasia camptomelic dysplasia (disorder) camptomelic dysplasias cmd1 cmpd1 sra1 cmpd1 sra1s cmpd1/sra1 dwarfism, campomelic dwarfisms, campomelic dysplasia, campomelic dysplasia, camptomelic dysplasias, campomelic dysplasias, camptomelic sra1, cmpd1 sra1s, cmpd1 syndrome, campomelic syndromes, campomelic
Orphanet	ORPHANET:140
OMIM	OMIM:114290
DOID	DOID:0050463
UMLS	C1861922
MeSH	D055036
SNOMED-CT	SNOMEDCT_US_2016_09_01:74928006
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) SOX9 \| 6662 \| CLINVAR;CTD_human;UNIPROT;ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:63) 7544 \| ZFY \| DISEASES 268 \| AMH \| DISEASES 1277 \| COL1A1 \| DISEASES 1746 \| DLX2 \| DISEASES 9496 \| TBX4 \| DISEASES 1300 \| COL10A1 \| DISEASES 3759 \| KCNJ2 \| DISEASES 6659 \| SOX4 \| DISEASES 6662 \| SOX9 \| DISEASES 29969 \| MDFIC \| DISEASES 338917 \| VSX2 \| DISEASES 8190 \| MIA \| DISEASES 3977 \| LIFR \| DISEASES 1583 \| CYP11A1 \| DISEASES 2588 \| GALNS \| DISEASES 805 \| CALM2 \| DISEASES 3773 \| KCNJ16 \| DISEASES 808 \| CALM3 \| DISEASES 30812 \| SOX8 \| DISEASES 1278 \| COL1A2 \| DISEASES 64321 \| SOX17 \| DISEASES 7083 \| TK1 \| DISEASES 3960 \| LGALS4 \| DISEASES 613 \| BCR \| DISEASES 7543 \| ZFX \| DISEASES 2119 \| ETV5 \| DISEASES 10238 \| DCAF7 \| DISEASES 9149 \| DYRK1B \| DISEASES 55553 \| SOX6 \| DISEASES 1482 \| NKX2-5 \| DISEASES 7490 \| WT1 \| DISEASES 668 \| FOXL2 \| DISEASES 2626 \| GATA4 \| DISEASES 6622 \| SNCA \| DISEASES 1299 \| COL9A3 \| DISEASES 11060 \| WWP2 \| DISEASES 219844 \| HYLS1 \| DISEASES 5826 \| ABCD4 \| DISEASES 801 \| CALM1 \| DISEASES 1297 \| COL9A1 \| DISEASES 5573 \| PRKAR1A \| DISEASES 6663 \| SOX10 \| DISEASES 916 \| CD3E \| DISEASES 6708 \| SPTA1 \| DISEASES 26227 \| PHGDH \| DISEASES 9096 \| TBX18 \| DISEASES 60495 \| HPSE2 \| DISEASES 860 \| RUNX2 \| DISEASES 1298 \| COL9A2 \| DISEASES 2516 \| NR5A1 \| DISEASES 4146 \| MATN1 \| DISEASES 9968 \| MED12 \| DISEASES 1302 \| COL11A2 \| DISEASES 249 \| ALPL \| DISEASES 190 \| NR0B1 \| DISEASES 1280 \| COL2A1 \| DISEASES 6736 \| SRY \| DISEASES 594855 \| CPLX3 \| DISEASES 1859 \| DYRK1A \| DISEASES 176 \| ACAN \| DISEASES 6660 \| SOX5 \| DISEASES 5608 \| MAP2K6 \| DISEASES 57000 \| GSN-AS1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) SOX9 \| 17q24.3

Disease ID	253
Disease	campomelic dysplasia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:38) HP:0002808 \| Kyphosis HP:0000369 \| Low-set ears HP:0002786 \| Tracheobronchomalacia HP:0003038 \| Fibular hypoplasia HP:0000470 \| Short neck HP:0007036 \| Hypoplasia of olfactory tract HP:0008477 \| Poorly ossified cervical vertebrae HP:0000774 \| Narrow chest HP:0008821 \| Hypoplastic inferior ilia HP:0000126 \| Hydronephrosis HP:0006487 \| Bowing of the long bones HP:0004322 \| Short stature HP:0000347 \| Micrognathia HP:0000520 \| Proptosis HP:0002982 \| Tibial bowing HP:0001762 \| Talipes equinovarus HP:0002827 \| Hip dislocation HP:0003026 \| Short long bone HP:0002093 \| Respiratory insufficiency HP:0004408 \| Abnormality of the sense of smell HP:0000365 \| Hearing impairment HP:0000316 \| Hypertelorism HP:0002564 \| Malformation of the heart and great vessels HP:0005280 \| Depressed nasal bridge HP:0000256 \| Macrocephaly HP:0000037 \| Male pseudohermaphroditism HP:0012368 \| Flat face HP:0000062 \| Ambiguous genitalia HP:0002980 \| Femoral bowing HP:0002757 \| Recurrent fractures HP:0010781 \| Skin dimples HP:0001601 \| Laryngomalacia HP:0002119 \| Ventriculomegaly HP:0002650 \| Scoliosis HP:0000878 \| 11 pairs of ribs HP:0000175 \| Cleft palate HP:0006584 \| Small abnormally formed scapulae HP:0002779 \| Tracheomalacia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0012245 \| Sex reversal \| 5 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0003510 \| Proportionate dwarfism \| 1

Disease ID	253
Disease	campomelic dysplasia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C1704212 \| embolism C0340231 \| tracheobronchomalacia C0001883 \| airway obstruction
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:15)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137853129	NA	6662	SOX9	umls:C1861922	CLINVAR	NA	0.578467979	NA	SOX9;SOX9-AS1	17	72122749	C	G
rs1800562	19258483	3077	HFE	umls:C1861922	BeFree	We found that HFE C282Y might be associated with a protective role against CMPD.	0.000271442	2009	HFE	6	26092913	G	A
rs28940282	11754051	6662	SOX9	umls:C1861922	UNIPROT	Acampomelic campomelic syndrome.	0.578467979	2001	SOX9;SOX9-AS1	17	72122780	C	T
rs386626619	17643100	3717	JAK2	umls:C1861922	BeFree	The V617F mutation in the Janus Kinase 2 gene (JAK2(V617F)) was recently shown to be frequently and preferentially present in the peripheral blood and bone marrow cells of CMPD patients, and the resulting dysregulation of its downstream targets is important to CMPD pathogenesis.	0.002442977	2007	NA	NA	NA	NA	NA
rs386626619	19167611	3717	JAK2	umls:C1861922	BeFree	The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in diverse BCR/ABL-negative chronic myeloproliferative disorders (CMPD), and it is typically associated with polycythemia vera (PV).	0.002442977	2009	NA	NA	NA	NA	NA
rs386626619	17133457	3717	JAK2	umls:C1861922	BeFree	JAK2 V617F is a very reliable and noninvasive molecular marker for CMPD and should be used as a first test for diagnosis.	0.002442977	2006	NA	NA	NA	NA	NA
rs386626619	20966521	3717	JAK2	umls:C1861922	BeFree	The JAK2 V617F mutation was detected in 86 per cent of patients with CMPD disorders.	0.002442977	2010	NA	NA	NA	NA	NA
rs386626619	19258483	3717	JAK2	umls:C1861922	BeFree	The frequency of JAK2 V617F was 75.9% (249 of 328) in the CMPD group.	0.002442977	2009	NA	NA	NA	NA	NA
rs587776541	NA	6662	SOX9	umls:C1861922	CLINVAR	NA	0.578467979	NA	SOX9	17	72123593	-	C
rs77375493	19258483	3717	JAK2	umls:C1861922	BeFree	The frequency of JAK2 V617F was 75.9% (249 of 328) in the CMPD group.	0.002442977	2009	JAK2;INSL6	9	5073770	G	A,T
rs77375493	17643100	3717	JAK2	umls:C1861922	BeFree	The V617F mutation in the Janus Kinase 2 gene (JAK2(V617F)) was recently shown to be frequently and preferentially present in the peripheral blood and bone marrow cells of CMPD patients, and the resulting dysregulation of its downstream targets is important to CMPD pathogenesis.	0.002442977	2007	JAK2;INSL6	9	5073770	G	A,T
rs77375493	17133457	3717	JAK2	umls:C1861922	BeFree	JAK2 V617F is a very reliable and noninvasive molecular marker for CMPD and should be used as a first test for diagnosis.	0.002442977	2006	JAK2;INSL6	9	5073770	G	A,T
rs77375493	20966521	3717	JAK2	umls:C1861922	BeFree	The JAK2 V617F mutation was detected in 86 per cent of patients with CMPD disorders.	0.002442977	2010	JAK2;INSL6	9	5073770	G	A,T
rs77375493	19167611	3717	JAK2	umls:C1861922	BeFree	The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in diverse BCR/ABL-negative chronic myeloproliferative disorders (CMPD), and it is typically associated with polycythemia vera (PV).	0.002442977	2009	JAK2;INSL6	9	5073770	G	A,T
rs80338688	NA	6662	SOX9	umls:C1861922	CLINVAR	NA	0.578467979	NA	SOX9	17	72124177	C	A,G,T

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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