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Sebocystomatosis
1 OMIM reference -
1 associated gene
4 signs/symptoms
PROTEIN INTERACTIONS: 1
Opsismodysplasia
1 OMIM reference -
1 associated gene
27 signs/symptoms
Sebocystomatosis
Opsismodysplasia

KRT17
(UniProt - OMIM)
 INPPL1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
KRT17
(0.63)
INPPL1


Citations in the biomedical literature:


Sebocystomatosis
KRT17
Opsismodysplasia
INPPL1



Sebocystomatosis
Opsismodysplasia

Synonym(s):
- Steatocystoma multiplex
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537122
Sebocystomatosis
Opsismodysplasia

Very frequent
- Adenoma sebaceum
- Autosomal dominant inheritance
- Skin tumors / lumps / epidermal cysts

Occasional
- Urinary / renal lithiasis / kidney stones / nephritic colic


Very frequent
- Abnormal vertebral size / shape
- Autosomal recessive inheritance
- Delayed bone age
- Depressed nasal bridge
- Epiphyseal anomaly
- Frontal bossing / prominent forehead
- Lack / delayed ossification of spine / vertebrae
- Large fontanelle / delayed fontanelle closure
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metaphyseal anomaly
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rhizomelic micromelia
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Short / small nose
- Tapered fingers

Frequent
- Brachycephaly / flat occiput
- Hypotonia
- Repeat respiratory infections

Occasional
- Blue sclerae
- Broad / bifid thumb
- Hepatomegaly / liver enlargement (excluding storage disease)
- Narrow rib cage / thorax
- Pectus excavatum
- Restricted joint mobility / joint stiffness / ankylosis
- Splenomegaly