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1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Shwachman-Diamond syndrome

1 OMIM reference -
1 associated gene
28 signs/symptoms

MMEP syndrome

Shwachman-Diamond syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SNX3	(0.49)	SBDS

Citations in the biomedical literature:

MMEP syndrome		Shwachman-Diamond syndrome
	Synonym(s): - MCOPS8 - Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism - Syndromic microphthalmia type 8 - Viljoen-Smart syndrome		Synonym(s): - Congenital lipomatosis of pancreas

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic 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): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: any age Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

MMEP syndrome		Shwachman-Diamond syndrome
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cleft lip and palate - Median cleft lip - Microcephaly - Oligodactyly / ectrodactyly of toes - Prognathism / prognathia Frequent - Fingerlike / triphalangeal thumb - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia Occasional - Chromosomal or genetic anomaly - Ventricular septal defect / interventricular communication		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 - 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