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Isolated delta-storage pool disease
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Blepharophimosis-intellectual deficit syndrome, SBBYS type
1 OMIM reference -
1 associated gene
31 signs/symptoms
Isolated delta-storage pool disease
Blepharophimosis-intellectual deficit syndrome, SBBYS type

FLI1
(UniProt - OMIM)
 KAT6B
(UniProt - OMIM)
RUNX1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
RUNX1
(0.63)
KAT6B


Citations in the biomedical literature:


Isolated delta-storage pool disease
FLI1 RUNX1
Blepharophimosis-intellectual deficit syndrome, SBBYS type
KAT6B



Isolated delta-storage pool disease
Blepharophimosis-intellectual deficit syndrome, SBBYS type

Synonym(s):
- Isolated delta-SPD
- Isolated dense-SPD
- Isolated dense-storage pool disease
Synonym(s):
- Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual deficit
- SBBYSS
- Say-Barber-Biesecker-Young-Simpson syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Blepharophimosis-intellectual deficit syndrome, SBBYS type

Very frequent
- Blepharophimosis / short palpebral fissures
- Hypothyroidy
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large / bulbous nose
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent occiput / occipital bossing
- Short stature / dwarfism / nanism
- Sloping forehead
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Antihelix anomaly
- Atrial septal defect / interauricular communication
- Atrioventricular canal
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Camptodactyly of some fingers
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Clinodactyly of fifth finger
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperextensible joints / articular hyperlaxity
- Insterstitial / subtelomeric microdeletion / deletion
- Microcephaly
- Patent ductus arteriosus
- Polyhydramnios
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus
- Simian crease / transverse / unique palmar crease
- Ventricular septal defect / interventricular communication

Occasional
- Defect / anomaly of lacrimal system
- Oral cavity / tongue neoplasm / tumor / carcinoma / cancer


Isolated delta-storage pool disease

(no data available)