ODCs

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Pycnodysostosis

1 OMIM reference -
1 associated gene
42 signs/symptoms

PROTEIN INTERACTIONS: 1

Camptodactyly - tall stature - scoliosis - hearing loss

1 OMIM reference -
1 associated gene
4 signs/symptoms

Pycnodysostosis

Camptodactyly - tall stature - scoliosis - hearing loss

CTSK

(UniProt - OMIM)

FGFR3

(UniProt - OMIM)


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

Citations in the biomedical literature:

Pycnodysostosis		Camptodactyly - tall stature - scoliosis - hearing loss
	Synonym(s): - Pyknodysostosis		Synonym(s): - CATSHL syndrome

	Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - 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 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D058631		External references: 1 OMIM reference - No MeSH references

Pycnodysostosis		Camptodactyly - tall stature - scoliosis - hearing loss
	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 - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Dysplastic / thick / grooved fingernails - Epiphyseal anomaly - Face / facial anomalies - Frontal bossing / prominent forehead - High forehead - High vaulted / narrow palate - Hypoplastic mandibula / partial absence of the mandibula - Large fontanelle / delayed fontanelle closure - Mid-facial hypoplasia / short / small midface - Mutiple fractures / bone fragility - Osteolysis / osteoclasia / bone destruction / erosions - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Terminal / third phalangeal bone of fingers hypoplasia Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - 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) - Hydrocephaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Lordosis - Nails anomalies - Narrow rib cage / thorax - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Respiratory rhythm disorder - Splenomegaly		Very frequent - Camptodactyly of fingers - Hearing loss / hypoacusia / deafness - Scoliosis - Tall stature / gigantism / growth acceleration