SC4MOL DEFICIENCY

Question 1

What is  SC4MOL DEFICIENCY?

Accepted Answer

very rare
autosomal recessive
mutation in the SC4MOL gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mikrozephalie-kongenitale Katarakt-psoriasiforme Dermatose-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616834

Question 4

Which enzymes are involved?

Accepted Answer

Methylsterol monooxygenase 1

Disease	SC4MOL DEFICIENCY
Synonym	MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS; MCCPD
OMIM	616834 OMIM = Online Mendelian Inheritance of Men
Orphanet	488168
Protein (UniProt)	Methylsterol monooxygenase 1
ExPASy	1.14.13.72
Gene locus	4q32.3
ICD
Summary	very rare autosomal recessive mutation in the SC4MOL gene
Laboratory findings	4α-methylsterols inc (plasma) 7-Dehydrocholesterol inc (plasma) Cholesterol normal/dec (plasma) HDL-Cholesterol normal/dec (plasma) Low-density lipoprotein (LDL) normal/dec (plasma)
Symptoms	blepharitis cataract contractures, joints dermatitis developmental delay failure to thrive frontal bossing hair, abnormal (thin, brittle, fine) hypotonia ichthyosis mental retardation microcephaly (<2 SD for age) onset, childhood onset, infancy onset, neonatal pain, bones or joints puberty, delayed or missing short stature