Preferred Label : Renpenning syndrome 1;
Symbol : RENS1;
CISMeF acronym : MRXS3; MRXS8; MRX55; RENS1; SHS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Mental retardation, X-linked, renpenning type; MRXS3; MRX55; MRXS8; Mental retardation, X-linked, syndromic 8; Mental retardation, X-linked 55; Mental retardation, X-linked, with spastic diplegia; Mental retardation, X-linked, syndromic 3; SHS; Sutherland-haan X-linked mental retardation syndrome; Golabi-ito-hall syndrome;
Description : Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable
features. Affected individuals have microcephaly, short stature, small testes, and
dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal
nasal configuration, cupped ears, and short philtrum. The nose may appear long or
bulbous, with overhanging columella. Less consistent manifestations include ocular
colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al.
(2005) proposed that the various X-linked mental retardation syndromes due to PQBP1
mutations be combined under the name of Renpenning syndrome.;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the polyglutamine-binding protein-1 gene (PQBP1, 300463.0001);
Prefixed ID : #309500;
Origin ID : 309500;
UMLS CUI : C0796135;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)