Nephrology · Nephrology / Hereditary kidney disease
Schimke immuno-osseous dysplasia syndrome
also: Schimke syndrome; SIOD
Spondyloepiphyseal dysplasia, T-cell immunodeficiency and steroid-resistant nephropathy.
- Specialty
- Nephrology
- Subspecialty
- Nephrology / Hereditary kidney disease
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- SMARCAL1
- Alternative names & eponyms
- Schimke syndrome; SIOD
Etiology & mechanism
SMARCAL1 chromatin remodeling defect.
Gene(s) involved (1)
Symptoms & signs (9)
In plain terms, someone with Schimke immuno-osseous dysplasia syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Shwachman–Diamond syndrome
recurrent infections, short stature
1 shared
3M syndrome
short stature
1 shared
Aarskog–Scott syndrome
short stature
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Autoimmune polyglandular syndrome type 2
hypothyroidism
1 shared
Bare lymphocyte syndrome
recurrent infections
1 shared
Barth syndrome
recurrent infections
1 shared
Benign hereditary chorea
hypothyroidism
1 shared
Bloom syndrome
short stature
1 shared
Börjeson–Forssman–Lehmann syndrome
short stature
Shares genes with
Loading…
Loading…