ODCs

Cytoscape Web

Click node...

Pycnodysostosis

1 OMIM reference -
1 associated gene
42 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 10

Thanatophoric dysplasia type 1

1 OMIM reference -
1 associated gene
42 signs/symptoms

Pycnodysostosis

Thanatophoric dysplasia type 1

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Pycnodysostosis		Thanatophoric dysplasia type 1
	Synonym(s): - Pyknodysostosis		Synonym(s): - TD1 - Thanatophoric dwarfism type 1

	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: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Frontal bossing / prominent forehead - Hydrocephaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Proptosis / exophthalmos - Short hand / brachydactyly - Short stature / dwarfism / nanism

Pycnodysostosis		Thanatophoric dysplasia type 1
	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 - Mid-facial hypoplasia / short / small midface - Mutiple fractures / bone fragility - Osteolysis / osteoclasia / bone destruction / erosions - Short foot / brachydactyly of toes - 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 - Anomalies of skin, subcutaneous tissue and mucosae - Hepatomegaly / liver enlargement (excluding storage disease) - Lordosis - Nails anomalies - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Respiratory rhythm disorder - Splenomegaly		Very frequent - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Depressed nasal bridge - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flat face - Hypotonia - Loose skin / skin relaxation / excess skin / creases - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Platyspondyly - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rhizomelic micromelia - Sacroiliac joints anomalies - Short limbs / micromelia / brachymelia - Short rib cage / thorax - Small face - Stillbirth / neonatal death - Trident hand / split hand / abnormal median ray Frequent - Dilated cerebral ventricles without hydrocephaly - Hearing loss / hypoacusia / deafness - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Increased nuchal translucency - Polyhydramnios - Rippled skin Occasional - Acanthosis nigricans - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Atrial septal defect / interauricular communication - Cloverleaf skull - Patent ductus arteriosus - Renal / kidney anomalies - Restricted joint mobility / joint stiffness / ankylosis - Seizures / epilepsy / absences / spasms / status epilepticus