Preferred Label : Chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Schimke et al. (1971) described a girl who excreted about 100 mg of acid mucopolysaccharide
daily, and showed a nonprogressive form of nephrotic syndrome with proteinuria and
a defect of cellular immunity. Clinical features included short stature, low birth
weight, disseminated herpetic infection, truncal shortening, corneal opacities, and
demineralization of bones. Erickson (1977) studied a similar patient. The product
of a first-cousin marriage, the patient had 4 sibs who died within the first 2 years
of life of apparently related symptoms. The patient survived to her late teens with
severe chronic pulmonary disease and cor pulmonale secondary to IgA deficiency. At
autopsy, macronodular cirrhosis was found. A first cousin had no immunodeficiency,
but showed a mucolipidosis-like phenotype. *FIELD* RF 1. Erickson, R. P.: Personal
Communication. Ann Arbor, Mich. 1977. 2. Schimke, R. N.; Horton, W. A.; King, C.
R.: Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome.
(Letter) Lancet 298: 1088-1089, 1971. Note: Originally Volume II. *FIELD* CS GU: Nephrotic
syndrome Immune: Immunodeficiency; IgA deficiency Growth: Short stature; Low birth
weight; Truncal shortening Misc: Disseminated herpetic infection;
Inheritance : Autosomal recessive;
Prefixed ID : 215250;
Origin ID : 215250;
UMLS CUI : C1859104;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
