PedAM

Pediatric Disease Annotations & Medicines


	pycnodysostosis

Disease ID	130
Disease	pycnodysostosis
Definition	Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.
Synonym	maroteaux-lamy pyknodysostosis syndrome maroteaux-lamy syndrome 2 maroteaux-lamy syndrome ii pknd pycd pycnodysostoses pycnodysostosis (disorder) pycnodysostosis [disease/finding] pyknodysostoses pyknodysostosis pyknodysostosis (disorder) stanesco's dysostosis syndrome
Orphanet	ORPHANET:763
OMIM	OMIM:265800
DOID	DOID:0080038
UMLS	C0238402
MeSH	D058631
SNOMED-CT	SNOMEDCT_US_2016_09_01:89647000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0029443 \| osteomyelitis \| 2 C0010278 \| craniosynostosis \| 1 C0008928 \| cleidocranial dysplasia \| 1 C0028754 \| obesity \| 1 C0037315 \| sleep apnea \| 1 C0032827 \| k deficiency \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) CTSK \| 1513 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:33) 1277 \| COL1A1 \| DISEASES 7942 \| TFEB \| DISEASES 6678 \| SPARC \| DISEASES 80326 \| WNT10A \| DISEASES 10913 \| EDAR \| DISEASES 59341 \| TRPV4 \| DISEASES 3589 \| IL11 \| DISEASES 22797 \| TFEC \| DISEASES 10312 \| TCIRG1 \| DISEASES 1513 \| CTSK \| DISEASES 23657 \| SLC7A11 \| DISEASES 1836 \| SLC26A2 \| DISEASES 4041 \| LRP5 \| DISEASES 1278 \| COL1A2 \| DISEASES 50964 \| SOST \| DISEASES 3479 \| IGF1 \| DISEASES 3265 \| HRAS \| DISEASES 7030 \| TFE3 \| DISEASES 1435 \| CSF1 \| DISEASES 796 \| CALCA \| DISEASES 128178 \| EDARADD \| DISEASES 799 \| CALCR \| DISEASES 58484 \| NLRC4 \| DISEASES 632 \| BGLAP \| DISEASES 3570 \| IL6R \| DISEASES 1520 \| CTSS \| DISEASES 4170 \| MCL1 \| DISEASES 1893 \| ECM1 \| DISEASES 249 \| ALPL \| DISEASES 5251 \| PHEX \| DISEASES 1186 \| CLCN7 \| DISEASES 6696 \| SPP1 \| DISEASES 5744 \| PTHLH \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) CTSK \| 1q21.3

Disease ID	130
Disease	pycnodysostosis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:66) HP:0002808 \| Kyphosis HP:0000269 \| Protruding occiput HP:0003302 \| Spondylolithesis HP:0000668 \| Failure of development of between one and six teeth HP:0004322 \| Stature below 3rd percentile HP:0004474 \| Front fontanelle stays open HP:0000189 \| Narrow palate HP:0000889 \| Abnormality of the clavicle HP:0000951 \| Abnormality of the skin HP:0001231 \| Abnormality of the fingernails HP:0000448 \| Big nose HP:0001831 \| Short toe HP:0002797 \| Osteolysis HP:0000164 \| Abnormality of the teeth HP:0003307 \| Hyperlordosis HP:0000774 \| Narrow chest HP:0005930 \| Abnormality of epiphysis morphology HP:0003468 \| Abnormality of the vertebrae HP:0001156 \| Brachydactyly HP:0000189 \| Decreased transverse dimension of palate HP:0002793 \| Abnormal pattern of respiration HP:0000592 \| Blue sclerae HP:0001156 \| Brachydactyly syndrome HP:0004322 \| Short stature HP:0000520 \| Proptosis HP:0001807 \| Ridged nail HP:0000684 \| Delayed eruption of teeth HP:0002652 \| Skeletal dysplasia HP:0001744 \| Splenomegaly HP:0000238 \| Hydrocephalus HP:0000272 \| Malar flattening HP:0100543 \| Cognitive impairment HP:0000924 \| Abnormality of the skeletal system HP:0000670 \| Dental caries HP:0002240 \| Hepatomegaly HP:0000925 \| Abnormality of the vertebral column HP:0002007 \| Frontal bossing HP:0006482 \| Abnormality of dental morphology HP:0011800 \| Midface retrusion HP:0009882 \| Short distal phalanx of finger HP:0001597 \| Abnormality of the nail HP:0000348 \| High forehead HP:0002645 \| Wormian bones HP:0000347 \| Hypoplasia of mandible HP:0002645 \| Extra bones within cranial sutures HP:0002644 \| Abnormal shape of pelvic girdle bone HP:0002757 \| Recurrent fractures HP:0002007 \| Frontal protruberance HP:0011001 \| Increased bone mineral density HP:0000765 \| Abnormality of the thorax HP:0009839 \| Osteolytic defects of the outermost finger bone of the hand HP:0002688 \| Absent frontal sinuses HP:0002650 \| Scoliosis HP:0001903 \| Anemia HP:0004474 \| Persistent open anterior fontanelle HP:0009106 \| Abnormal pelvis bone ossification HP:0002644 \| Abnormality of pelvic girdle bone morphology HP:0000271 \| Abnormality of the face HP:0006335 \| Delayed loss of primary teeth HP:0002653 \| Bone pain HP:0000696 \| Delayed eruption of secondary dentition HP:0000248 \| Brachycephaly HP:0000680 \| Late eruption of primary teeth HP:0003304 \| Spondylolysis HP:0002754 \| Osteomyelitis HP:0001807 \| Grooved nails
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0002754 \| Bone infection \| 2 HP:0001513 \| Obesity \| 1 HP:0001288 \| Gait disturbance \| 1 HP:0001363 \| Early fusion of cranial sutures \| 1 HP:0003416 \| Spinal canal stenosis \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0002025 \| Narrowing of anal opening \| 1

Disease ID	130
Disease	pycnodysostosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C1390474 \| bone fragility C0410656 \| isthmic spondylolisthesis C0238074 \| cor pulmonale C0038018 \| spondylolysis C0032827 \| k deficiency C0003864 \| arthritis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0032827 \| k deficiency \| 1

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

All Snps(Total Genotypes:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs29001685	NA	1513	CTSK	umls:C0238402	CLINVAR	NA	0.567871814	NA	CTSK	1	150796863	A	G
rs29001685	10878663	1513	CTSK	umls:C0238402	UNIPROT	Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population.	0.567871814	2000	CTSK	1	150796863	A	G
rs74315301	NA	1513	CTSK	umls:C0238402	CLINVAR	NA	0.567871814	NA	CTSK	1	150796799	T	C
rs74315302	NA	1513	CTSK	umls:C0238402	CLINVAR	NA	0.567871814	NA	CTSK	1	150804203	C	G
rs74315303	NA	1513	CTSK	umls:C0238402	CLINVAR	NA	0.567871814	NA	CTSK	1	150799607	G	T,A
rs74315304	NA	1513	CTSK	umls:C0238402	CLINVAR	NA	0.567871814	NA	CTSK	1	150799228	G	A
rs74315304	9529353	1513	CTSK	umls:C0238402	BeFree	Molecular analysis of a patient affected by the autosomal recessive skeletal dysplasia, pycnodysostosis (cathepsin K deficiency; MIM 265800), revealed homozygosity for a novel missense mutation (A277V).	0.567871814	1998	CTSK	1	150799228	G	A
rs74315305	NA	1513	CTSK	umls:C0238402	CLINVAR	NA	0.567871814	NA	CTSK	1	150806109	C	T
rs74315306	NA	1513	CTSK	umls:C0238402	CLINVAR	NA	0.567871814	NA	CTSK	1	150806191	T	A

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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