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1.

Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness

X-linked retinitis pigmentosa and sinorespiratory infections with or without deafness (RPSRDF) is characterized by typical features of RP, including night blindness, constricted visual fields, progressive reduction in visual acuity, bone-spicule pigmentation, and extinguished responses on electroretinography. Affected individuals also experience severe recurrent sinorespiratory infections, and some develop progressive hearing loss. Carrier females may show an attenuated ocular and/or respiratory phenotype (Zito et al., 2003; Moore et al., 2006). [from OMIM]

MedGen UID:
440716
Concept ID:
C2749137
Disease or Syndrome
2.

Factor I deficiency

C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity. [from GeneReviews]

MedGen UID:
483045
Concept ID:
C3463916
Disease or Syndrome
3.

Recurrent Haemophilus influenzae infections

Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae. [from HPO]

MedGen UID:
870747
Concept ID:
C4025204
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