Multiple sulfatase deficiency
MSD

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Prevalence (%) of clinical parameters based on data from 2 references describing 12 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Mental retardation nervous 100 % 21224894 2011-10-27
Ichthyosis integumentary 100 % 21224894 2011-10-27
Mental retardation nervous 100 % 18509892 2011-11-15
Developmental delay nervous 100 % 18509892 2011-11-15
Hepatomegaly digestive 100 % 18509892 2011-11-16
Hyperactive reflexes nervous 100 % 18509892 2011-11-16
Babinski's sign nervous 100 % 18509892 2011-11-16
Splenomegaly circulatory 100 % 18509892 2011-11-16
Ichthyosis integumentary 100 % 18509892 2011-11-16
Seizures nervous 50 % 18509892 2011-11-15
Cerebral atrophy nervous 50 % 18509892 2011-11-16
Cerebellar atrophy nervous 50 % 18509892 2011-11-16
Leukodystrophy nervous 50 % 18509892 2011-11-16



List of references:


SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
Lars Schlotawa, Eva Charlotte Ennemann, Karthikeyan Radhakrishnan, Bernhard Schmidt, Anupam Chakrapani, Hans-Jürgen Christen, Hugo Moser, Beat Steinmann, Thomas Dierks, Jutta Gärtner,



European journal of human genetics : EJHG - Mar 2011



Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.
Uluç Yiş, Stefano Pepe, Semra Hiz Kurul, Andrea Ballabio, Maria Pia Cosma, Eray Dirik,



Brain & development - May 2008