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Alport syndrome 3b, autosomal recessive(ATS3B)

MedGen UID:
1848447
Concept ID:
C5882699
Disease or Syndrome
Synonyms: ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE; ATS3B
 
Gene (location): COL4A3 (2q36.3)
 
Monarch Initiative: MONDO:0957811
OMIM®: 620536

Definition

Autosomal recessive Alport syndrome-3B (ATS3B) is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities. Sensorineural hearing loss and ocular manifestations may be present (summary by Boye et al., 1998). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (ATS1; 301050). [from OMIM]

Clinical features

From HPO
Albuminuria
MedGen UID:
1394
Concept ID:
C0001925
Finding
Increased concentration of albumin in the urine.
Nephrotic syndrome
MedGen UID:
10308
Concept ID:
C0027726
Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Microscopic hematuria
MedGen UID:
65997
Concept ID:
C0239937
Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Stage 5 chronic kidney disease
MedGen UID:
384526
Concept ID:
C2316810
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Thin glomerular basement membrane
MedGen UID:
478451
Concept ID:
C3276821
Finding
Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Bilateral sensorineural hearing impairment
MedGen UID:
96788
Concept ID:
C0452138
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.

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