Anemia, and Proteinuria

Low match ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH B FACTOR ANOMALY

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH B FACTOR ANOMALY Is also known as hemolytic-uremic syndrome without diarrhea with b factor anomaly|ahus, susceptibility to, 4|atypical hus with b factor anomaly|ahus with b factor anomaly|d-hus with b factor anomaly

• Hypertension
• Thrombocytopenia
• Proteinuria
• Hematuria
• Acute kidney injury

SOURCES: ORPHANET OMIM MENDELIAN

Low match ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH I FACTOR ANOMALY

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH I FACTOR ANOMALY Is also known as atypical hus with i factor anomaly|d-hus with i factor anomaly|ahus, susceptibility to, 3|hemolytic-uremic syndrome without diarrhea with i factor anomaly|ahus with i factor anomaly

• Anemia
• Hypertension
• Thrombocytopenia
• Proteinuria
• Hemolytic anemia

SOURCES: OMIM ORPHANET MENDELIAN

Low match ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH THROMBOMODULIN ANOMALY

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH THROMBOMODULIN ANOMALY Is also known as d-hus with thrombomodulin anomaly|ahus, susceptibility to, 6|atypical hus with thrombomodulin anomaly|ahus with thrombomodulin anomaly|hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly

• Anemia
• Hypertension
• Renal insufficiency
• Thrombocytopenia
• Proteinuria

SOURCES: ORPHANET OMIM MENDELIAN

Low match ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH C3 ANOMALY

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH C3 ANOMALY Is also known as ahus with c3 anomaly|hemolytic-uremic syndrome without diarrhea with c3 anomaly|atypical hus with c3 anomaly|d-hus with c3 anomaly|ahus, susceptibility to, 5

• Hypertension
• Thrombocytopenia
• Proteinuria
• Stage 5 chronic kidney disease
• Hematuria

SOURCES: ORPHANET OMIM MENDELIAN

Low match FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3

Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005).For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (OMIM ).

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3 Is also known as glomerulosclerosis, focal segmental, 3, susceptibility to

• Failure to thrive
• Anemia
• Hypertension
• Renal insufficiency
• Proteinuria

SOURCES: OMIM MENDELIAN

Low match IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS

Nephrotic syndrome type 7 is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. Some patients may benefit from immunosuppressive therapy (summary by Ozaltin et al., 2013).Atypical hemolytic uremic syndrome-7 is characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system (summary by Lemaire et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (OMIM ).For a general phenotypic description and a discussion of genetic heterogeneity of aHUS, see AHUS1 (OMIM ).

IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS Is also known as ig-mediated mpgn|immunoglobulin-mediated mpgn|ig-mediated membranoproliferative glomerulonephritis|nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis

• Anemia
• Hypertension
• Renal insufficiency
• Thrombocytopenia
• Proteinuria

SOURCES: ORPHANET OMIM MENDELIAN

Low match HEME OXYGENASE 1 DEFICIENCY; HMOX1D

• Growth delay
• Anemia
• Hepatomegaly
• Fever
• Proteinuria

SOURCES: OMIM MESH MENDELIAN

Low match NEPHROTIC SYNDROME-DEAFNESS-PRETIBIAL EPIDERMOLYSIS BULLOSA SYNDROME

Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome is a rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.

NEPHROTIC SYNDROME-DEAFNESS-PRETIBIAL EPIDERMOLYSIS BULLOSA SYNDROME Is also known as nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome

• Hearing impairment
• Sensorineural hearing impairment
• Anemia
• Proteinuria
• Nail dystrophy

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match NEPHROTIC SYNDROME, TYPE 2; NPHS2

Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by Fuchshuber et al., 1996). Some patients show later onset of the disorder (Tsukaguchi et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

NEPHROTIC SYNDROME, TYPE 2; NPHS2 Is also known as nephrotic syndrome, steroid-resistant, autosomal recessive|srn1

• Anemia
• Edema
• Renal insufficiency
• Obesity
• Proteinuria

SOURCES: OMIM ORPHANET MENDELIAN

Low match LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY

Lecithin:cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism and causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.

LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY Is also known as lcat deficiency|norum disease

• Anemia
• Peripheral neuropathy
• Renal insufficiency
• Proteinuria
• Abnormality of the eye

SOURCES: OMIM MENDELIAN