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Isolated delta-storage pool disease
2 associated genes
81 connected diseases
No signs/symptoms info
Disease Type of connection
Precursor B-cell acute lymphoblastic leukemia
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Ewing sarcoma
Extraskeletal Ewing sarcoma
Peripheral primitive neuroectodermal tumor
Chronic myeloid leukemia
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Paris-Trousseau thrombocytopenia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Precursor T-cell acute lymphoblastic leukemia
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Acute promyelocytic leukemia
Familial isolated dilated cardiomyopathy
Autosomal agammaglobulinemia
Coffin-Siris syndrome
Familial rhabdoid tumor
Extraskeletal myxoid chondrosarcoma
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute basophilic leukemia
Beta-thalassemia - X-linked thrombocytopenia
Congenital erythropoietic porphyria
Thrombocytopenia with congenital dyserythropoietic anemia
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Berardinelli-Seip congenital lipodystrophy
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Uveal coloboma - cleft lip and palate - intellectual deficit
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Chronic myelomonocytic leukemia
Congenital dyserythropoietic anemia type IV
Congenital mesoblastic nephroma
Fibrosarcoma
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Hypocalcemic vitamin D-resistant rickets
Acute megakaryoblastic leukemia without Down syndrome
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Autosomal recessive primary microcephaly
Cerebellar ataxia-deafness-narcolepsy syndrome
Heritable pulmonary arterial hypertension
Autosomal dominant hypohidrotic ectodermal dysplasia
Burkitt lymphoma
Papillary or follicular thyroid carcinoma
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Cerebellar ataxia - hypogonadism
Acute myeloid leukemia with CEBPA somatic mutations
Inherited acute myeloid leukemia
Alternating hemiplegia of childhood
Anophthalmia / microphthalmia - esophageal atresia
Atypical teratoid tumor
Blepharophimosis-intellectual deficit syndrome, SBBYS type
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Colobomatous microphthalmia
Familial multiple meningioma
Genitopatellar syndrome
Isolated anophthalmia - microphthalmia
Isolated brachycephaly
Isolated plagiocephaly
Neurofibromatosis type 3
Noonan syndrome
Rapid-onset dystonia-parkinsonism
Septo-optic dysplasia
Young adult-onset Parkinsonism
Barth syndrome
Left ventricular noncompaction
B-cell chronic lymphocytic leukemia
Complete androgen insensitivity syndrome
Desmoplastic small round cell tumor
Familial hypospadias
Kennedy disease
Mantle cell lymphoma
Melanoma of soft part
Multiple myeloma
Partial androgen insensitivity syndrome
Synonym(s):
- Isolated delta-SPD
- Isolated dense-SPD
- Isolated dense-storage pool disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
FLI1 Q01543193067
RUNX1 Q01196151385
No signs/symptoms info available.