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Lethal congenital contracture syndrome type 2
1 OMIM reference -
1 associated gene
70 connected diseases
No signs/symptoms info
Disease Type of connection
Giant cell glioblastoma
Gliosarcoma
Cowden syndrome
Amyotrophic lateral sclerosis
Noonan syndrome
Autosomal agammaglobulinemia
SHORT syndrome
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
CLOVE syndrome
Hemimegalencephaly
Hereditary nonpolyposis colon cancer
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Adult hepatocellular carcinoma
Familial primary hypomagnesemia with normocalcuria and normocalcemia
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Metachondromatosis
Autosomal dominant beta2-microglobulinic amyloidosis
Autosomal recessive lymphoproliferative disease
Budd-Chiari syndrome
Capillary malformation - arteriovenous malformation
Chronic myeloid leukemia
Combined immunodeficiency due to ZAP70 deficiency
Combined oxidative phosphorylation defect type 4
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Craniofacial-ulnar-renal syndrome
Dedifferentiated liposarcoma
Distal 22q11.2 microdeletion syndrome
Essential thrombocythemia
Familial thrombocytosis
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Hartsfield-Bixler-Demyer syndrome
Hypotonia with lactic acidemia and hyperammonemia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Isolated trigonocephaly
Kallmann syndrome
Myelofibrosis with myeloid metaplasia
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia
Osteoglophonic dwarfism
Parkes Weber syndrome
Pfeiffer syndrome type 1
Pilocytic astrocytoma
Polycythemia vera
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Proteus syndrome
Septo-optic dysplasia
Severe X-linked mitochondrial encephalomyopathy
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Well-differentiated liposarcoma
X-linked Charcot-Marie-Tooth disease type 4
X-linked lymphoproliferative disease
X-linked non-syndromic intellectual deficit
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Hereditary gingival fibromatosis
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Synonym(s):
- LCCS2
- Multiple contracture syndrome, Israeli-Bedouin type
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ERBB3 P21860190151
No signs/symptoms info available.