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Spondyloenchondrodysplasia
1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
Acute promyelocytic leukemia
1 OMIM reference -
7 associated genes
No signs/symptoms info
Spondyloenchondrodysplasia
Acute promyelocytic leukemia

ACP5
(UniProt - OMIM)
 NABP1
(UniProt - OMIM)
NPM1
(UniProt - OMIM)
NUMA1
(UniProt - OMIM)
PML
(UniProt - OMIM)
RARA
(UniProt - OMIM)
STAT5B
(UniProt - OMIM)
ZBTB16
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ACP5
(0.63)
ZBTB16


Citations in the biomedical literature:


Spondyloenchondrodysplasia
ACP5
Acute promyelocytic leukemia
NABP1 NPM1 NUMA1 PML RARA STAT5B
ZBTB16



Spondyloenchondrodysplasia
Acute promyelocytic leukemia

Synonym(s):
- SPENCD
- Spondyloenchondromatosis
- Spondylometaphyseal dysplasia with enchondromatous changes
Synonym(s):
- Acute myeloblastic leukemia type 3
- Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C535782
External references:
1 OMIM reference -
1 MeSH reference: D015473
Spondyloenchondrodysplasia

Very frequent
- Abnormal vertebral size / shape
- Autosomal recessive inheritance
- Enchondroses
- Kyphosis
- Lordosis
- Metaphyseal anomaly
- Rhizomelic micromelia
- Short stature / dwarfism / nanism

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Epiphyseal anomaly
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality



Acute promyelocytic leukemia

(no data available)