ODCs

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Pycnodysostosis

1 OMIM reference -
1 associated gene
42 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7

Cutis gyrata - acanthosis nigricans - craniosynostosis

1 OMIM reference -
2 associated genes
42 signs/symptoms

Pycnodysostosis

Cutis gyrata - acanthosis nigricans - craniosynostosis

CTSK	(UniProt - OMIM)		FGFR2	(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		Cutis gyrata - acanthosis nigricans - craniosynostosis
	Synonym(s): - Pyknodysostosis		Synonym(s): - Beare-Stevenson cutis gyrata 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 - Rare skin 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: neonatal/infancy 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


COMMON SIGNS	- Anomalies of skin, subcutaneous tissue and mucosae - Face / facial anomalies - High vaulted / narrow palate - Hydrocephaly - Mid-facial hypoplasia / short / small midface - Nails anomalies - Proptosis / exophthalmos

Pycnodysostosis		Cutis gyrata - acanthosis nigricans - craniosynostosis
	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 - Frontal bossing / prominent forehead - High forehead - 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 - 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 - Tooth shape anomaly - Wormian bones Occasional - Anaemia - Hepatomegaly / liver enlargement (excluding storage disease) - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Lordosis - Narrow rib cage / thorax - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Respiratory rhythm disorder - Splenomegaly		Very frequent - Acanthosis nigricans - Anodontia / oligodontia / hypodontia - Anomalies of ear and hearing - Autosomal dominant inheritance - Choanal atresia - Depressed nasal bridge - Depressed premaxillary region / midface - Dolichocephaly / scaphocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat cheek bones / malar hypoplasia - Long / large ear - Palmoplantar hyperkeratosis / keratoderma - Pigmented naevi / naevus pigmentosus / lentigo - Ptosis - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Skull / cranial anomalies - Small / hypoplastic / adherent / absent ear lobe - Structural anomalies of the pancreas - Subcutaneous nodules / lipomas / tumefaction / swelling - Turricephaly / oxycephaly / acrocephaly - Visceral angiomatosis (excluding skin) Frequent - Bifid scrotum - Craniostenosis / craniosynostosis / sutural synostosis - Horizontal folds on scrotum Occasional - Anomalies of eyes and vision - Anteverted nares / nostrils - Anus ectopia / anteposition / malposition - Chronic arterial hypertension - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Helix thickened / sculpted - Hypertelorism - Microstomia / little mouth - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Umbilical hernia - Undescended / ectopic testes / cryptorchidia / unfixed testes