ODCs

Cytoscape Web

Click node...

1 OMIM reference -
1 associated gene
41 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 11

Pycnodysostosis

1 OMIM reference -
1 associated gene
42 signs/symptoms

Achondroplasia

Pycnodysostosis

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR3	(0.63)	CTSK

Citations in the biomedical literature:

Achondroplasia		Pycnodysostosis
	Synonym(s): (no synonyms)		Synonym(s): - Pyknodysostosis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: elderly Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D000130		External references: 1 OMIM reference - 1 MeSH reference: D058631


COMMON SIGNS	- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Frontal bossing / prominent forehead - Hydrocephaly - Kyphosis - Lordosis - Mid-facial hypoplasia / short / small midface - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Short hand / brachydactyly - Short stature / dwarfism / nanism

Achondroplasia		Pycnodysostosis
	Very frequent - Anomalies of the ribs - Anteverted nares / nostrils - Autosomal dominant inheritance - Chronic / relapsing otitis - Depressed nasal bridge - Genu varum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Rhizomelic micromelia Frequent - Abnormal vertebral size / shape - Apnea / sleep apnea - Bowed diaphysis / diaphyses / long bones - Conductive deafness / hearing loss - Dilated cerebral ventricles without hydrocephaly - Elbow anomalies(excluding luxation) - Enlarged diaphysis / diaphyses - Generalized obesity - Hyperextensible joints / articular hyperlaxity - Hyperhidrosis / increased sweating - Hypotonia - Intrauterine growth retardation - Long rib cage / thorax Occasional - Acanthosis nigricans - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Death in infancy - Elbow dislocation - Elocution disorders / dysarthria / dysphonia - Rachidian / spine canal stenosis - Restricted joint mobility / joint stiffness / ankylosis - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia		Very frequent - Anomalies of bones / skeletal anomalies - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Brachycephaly / flat occiput - Clavicle absent / abnormal - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dysplastic / thick / grooved fingernails - Epiphyseal anomaly - Face / facial anomalies - High forehead - High vaulted / narrow palate - Hypoplastic mandibula / partial absence of the mandibula - Large fontanelle / delayed fontanelle closure - Mutiple fractures / bone fragility - Osteolysis / osteoclasia / bone destruction / erosions - Short foot / brachydactyly of toes - Terminal / third phalangeal bone of fingers hypoplasia Frequent - Absent / small fingernails / anonychia of hands - Blue sclerae - Bone pain - Proptosis / exophthalmos - Tooth shape anomaly - Wormian bones Occasional - Anaemia - Anomalies of skin, subcutaneous tissue and mucosae - Hepatomegaly / liver enlargement (excluding storage disease) - Intellectual deficit / mental / psychomotor retardation / learning disability - Nails anomalies - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Respiratory rhythm disorder - Splenomegaly