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GENATLAS PHENOTYPE
last update : 30-05-2011
Symbol KAL4
Location 3p21.1
Name Kallmann syndrome 4
Other name(s)
  • hypogonadotropic hypogonadism 4 with or without anosmia
    • Corresponding gene PROK2
    Other symbol(s) HH4
    Main clinical features
  • characterized by hypogonadotropic hypogonadism and anosmia, (variable degrees of olfactory and reproductive dysfunction), or normosmic idiopathic hypogonadotropic hypogonadism, maybe associated with renal agenesis or olfactory lobes and ataxia, synkinesia, nystagmus, visual defects, fibrous dysplasia, sleep disorder, seizures, clubfoot, cleft palate
    • Genetic determination autosomal dominant
    Function/system disorder endocrinology
    sex-genitalia
    neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function homozygous loss-of-function mutations either in PROKR2 are sufficient to cause disease phenotype (PMID: 18682503)
    Remark(s) loss-of-function mutations in KAL1 and FGFR1 account for approximately 20% of all cases of Kallmann syndrome and mutations in the PROKR2 and PROK2 genes account for an additional 10% (Dode,06)