SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (SOPH)

Question 1

What is  SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (SOPH)?

Accepted Answer

rare
autosomal recessive
mutation in the NBAS gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kleinwuchs-Optikusatrophie-Pelger-Huet-Anomalie-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614800

Question 4

Which enzymes are involved?

Accepted Answer

Neuroblastoma-amplified sequence

Disease	SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (SOPH)
Synonym	SOPH-SYNDROME
OMIM	614800 OMIM = Online Mendelian Inheritance of Men
Orphanet	391677
Protein (UniProt)	Neuroblastoma-amplified sequence
Gene locus	2p24.3
ICD	Q87.1
Summary	rare autosomal recessive mutation in the NBAS gene
Laboratory findings	Transaminases (ASAT/ALAT) inc (serum)
Symptoms	bone age, advanced brachycephaly dysmorphism growth retardation, poor growth hair, abnormal (thin, brittle, fine) hypotonia liver failure liver involvement or dysfunction myopia onset, infancy optic atrophy strabismus syndactyly