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Rare isolated myopia

3 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Shwachman-Diamond syndrome

1 OMIM reference -
1 associated gene
28 signs/symptoms

Rare isolated myopia

Shwachman-Diamond syndrome

LEPREL1	(UniProt - OMIM)		SBDS	(UniProt - OMIM)
LRPAP1	(UniProt - OMIM)
SCO2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SCO2	(0.49)	SBDS

Citations in the biomedical literature:

Rare isolated myopia		Shwachman-Diamond syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Congenital lipomatosis of pancreas

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare gastroenterologic disease - Rare genetic disease - Rare hematologic disease - Rare immune disease - Rare oncologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: any age Type of inheritance: autosomal recessive

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Shwachman-Diamond syndrome
	Very frequent - Autosomal recessive inheritance - Pancreatic failure / exocrine pancreas disease - Polynuclear cells / neutrophils anomalies / neutropenia - Structural anomalies of the pancreas Frequent - Delayed bone age - Eczema - Failure to thrive / difficulties for feeding in infancy / growth delay - Ichthyosis / ichthyosiform dermatitis - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocytic anemia - Malabsorption / chronic diarrhea / steatorrhea - Metaphyseal anomaly - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Short stature / dwarfism / nanism - Thrombocytopenia / thrombopenia Occasional - Abnormal gait - Acute leukemia - Bone marrow failure / pancytopenia - Complete / partial microdontia - Enanthema / aphtosa / aphta / leukoplakia - Hepatomegaly / liver enlargement (excluding storage disease) - Insulin-dependent / type 1 diabetes - Multiple caries - Myeloproliferative syndrome / chronic leukemia - Pectus carinatum - Scoliosis - Short rib cage / thorax
Rare isolated myopia
(no data available)