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Craniometaphyseal dysplasia

2 OMIM references -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

PYCR1-related DeBarsy syndrome

1 OMIM reference -
1 associated gene
No signs/symptoms info

Craniometaphyseal dysplasia

PYCR1-related DeBarsy syndrome

ANKH	(UniProt - OMIM)		PYCR1	(UniProt - OMIM)
GJA1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GJA1	(0.63)	PYCR1

Citations in the biomedical literature:

Craniometaphyseal dysplasia		PYCR1-related DeBarsy syndrome
	Synonym(s): - CMD		Synonym(s): - PYCR1 deficiency - Pyrroline-5-carboxylate reductase 1 deficiency

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease - Rare surgical thoracic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Craniometaphyseal dysplasia
	Very frequent - Autosomal dominant inheritance - Broad nasal root - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Depressed nasal bridge - Hypertelorism - Metaphyseal anomaly - Osteosclerosis / osteopetrosis / bone condensation Frequent - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Telecanthus / canthal dystopy Occasional - Conductive deafness / hearing loss - Cranial nerve anomalies - Facial palsy - Sensorineural deafness / hearing loss - Visual loss / blindness / amblyopia
PYCR1-related DeBarsy syndrome
(no data available)