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Maffucci syndrome
1 OMIM reference -
2 associated genes
28 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
Shwachman-Diamond syndrome
1 OMIM reference -
1 associated gene
28 signs/symptoms
Maffucci syndrome
Shwachman-Diamond syndrome

IDH1
(UniProt - OMIM)
 SBDS
(UniProt - OMIM)
IDH2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IDH1
(0.63)
SBDS


Citations in the biomedical literature:


Maffucci syndrome
IDH1 IDH2
Shwachman-Diamond syndrome
SBDS



Maffucci syndrome
Shwachman-Diamond syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Congenital lipomatosis of pancreas
Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin 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:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic
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 		- Failure to thrive / difficulties for feeding in infancy / growth delay
- Scoliosis
- Short stature / dwarfism / nanism

Maffucci syndrome
Shwachman-Diamond syndrome

Very frequent
- Bone tumefaction / swelling
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Enchondroses
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Mutiple fractures / bone fragility
- Osteolysis / osteoclasia / bone destruction / erosions
- Vascular anomalies of skin / mucosae
- Venous thrombosis / phlebitis / thrombophlebitis

Frequent
- Bone pain
- Exostoses
- Joint / articular deformation
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Acute palsy
- Adrenal neoplasm / tumor / carcinoma / cancer
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Breast neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Cranial nerves palsy
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Goiter
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Parathyroid neoplasm / tumor / carcinoma / cancer
- Pituitary / hypophyseal neoplasm / tumor / carcinoma / cancer
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sarcoma


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
- 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
- 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
- Short rib cage / thorax