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Metatropic dysplasia

1 OMIM reference -
1 associated gene
26 signs/symptoms

PROTEIN INTERACTIONS: 1

Severe combined immunodeficiency due to LCK deficiency

1 associated gene
No signs/symptoms info

Metatropic dysplasia

Severe combined immunodeficiency due to LCK deficiency

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TRPV4	(0.74)	LCK

Citations in the biomedical literature:

Metatropic dysplasia		Severe combined immunodeficiency due to LCK deficiency
	Synonym(s): - Metatropic dwarfism		Synonym(s): - SCID due to LCK deficiency - SCID due to lymphocyte-specific protein tyrosine kinase deficiency - Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537356		External references: No OMIM references No MeSH references

Metatropic dysplasia
	Very frequent - Abnormal vertebral size / shape - Abnormal / absent ossification - Anomalies of the ribs - Autosomal recessive inheritance - Cortical anomaly / thick bone cortical layer - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - High forehead - Intervertebral disk anomaly - Kyphosis - Long rib cage / thorax - Metaphyseal anomaly - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Rough trabeculation of bone - Scoliosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Occasional - Camptodactyly of fingers - Cataract / lens opacification - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Clinodactyly of fifth finger - Hydrocephaly - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears
Severe combined immunodeficiency due to LCK deficiency
(no data available)