Glomerulopathy with fibronectin deposits (GFND) is a hereditary kidney disease with proteinuria, microscopic hematuria, and hypertension that lead to end-stage renal failure in the second to sixth decade of life. It has been reported that mutations in FN1, which encodes fibronectin, are the cause of GFND.
Category
Urinary system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
21 Symptoms, signs or clinical findings, not elsewhere classified
Symptoms, signs or clinical findings of the genitourinary system
Clinical findings in specimens from the urinary system
MF81 Fibronectin glomerulopathy
H01260 Glomerulopathy with fibronectin deposits
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H01260 Glomerulopathy with fibronectin deposits
Castelletti F, Donadelli R, Banterla F, Hildebrandt F, Zipfel PF, Bresin E, Otto E, Skerka C, Renieri A, Todeschini M, Caprioli J, Caruso RM, Artuso R, Remuzzi G, Noris M
Title
Mutations in FN1 cause glomerulopathy with fibronectin deposits.
Spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, corner fracture type Spondylometaphyseal dysplasia, axial (SMDAX) Spondylometaphyseal dysplasia with corneal dystrophy (SMDCD) Spondylometaphyseal dysplasia, Sedaghatian type [DS:H01825] Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type [DS:H01830] Spondylometaphyseal dysplasia with cone-rod dystrophy [DS:H01821] spondylometaphyseal dysplasia, Pagnamenta type (SMDP)
Description
The spondylometaphyseal dysplasias (SMD) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. Aside from the most common SMD Kozlowski type (SMDK) and the second most common SMD corner fracture type (SMDCF), there are several rare subtypes and numerous unclassifiable cases of SMD.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02185 Spondylometaphyseal dysplasia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H02185 Spondylometaphyseal dysplasia
Endocrine system
nt06325 Hormone/cytokine signaling
H02185 Spondylometaphyseal dysplasia
Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM
Title
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".