Desmosterolosis

From Anvita Health Wiki

Contents 1 Epidemiology 2 Genetics 3 Clinical-manifestations 4 Laboratory 5 More General Terms 6 Additional Terms 7 Internet Database 8 References

Epidemiology

• rare

Genetics

• autosomal recessive disorder

Clinical-manifestations

• multiple congenital anomalies, lethal
• macrocephaly
• hypoplastic nasal bridge
• thick alveolar ridges
• gingival nodules
• cleft palate
• total anomalous pulmonary venous drainage
• ambiguous genitalia
• short limbs,
• generalized osteosclerosis

Laboratory

• elevated levels desmosterol in plasma, tissue, & cultured cells.

More General Terms

• genetic syndrome (multisystem disorder)
• metabolic disease

Additional Terms

• delta(24)-sterol reductase; 24-dehydrocholesterol reductase; 3-beta-hydroxysterol delta-24-reductase; diminuto/dwarf1 homolog; seladin-1 (DHCR24. KIAA0018)
• desmosterol (24-dehydrocholesterol)

Internet Database

OMIM: 602398

References

OMIM [1]

desmosterolosis