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Familial medullary thyroid carcinoma
1 OMIM reference -
2 associated genes
52 connected diseases
No signs/symptoms info
Disease Type of connection
Papillary or follicular thyroid carcinoma
Hirschsprung disease
Hereditary sensory and autonomic neuropathy type 5
Bilateral renal agenesis
Bilateral renal dysplasia
Haddad syndrome
Hereditary sensory and autonomic neuropathy type 4
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Unilateral renal dysplasia
Juvenile myelomonocytic leukemia
Noonan syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Autosomal agammaglobulinemia
SHORT syndrome
LEOPARD syndrome
Metachondromatosis
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Autosomal dominant hyper-IgE syndrome
Distal 16p11.2 microdeletion syndrome
Proximal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Amyotrophic lateral sclerosis
Autosomal dominant hypohidrotic ectodermal dysplasia
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Giant cell arteritis
Granulomatosis with polyangiitis
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Pediatric systemic lupus erythematosus
T-B+ severe combined immunodeficiency due to CD45 deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Feingold syndrome type 1
Hereditary gingival fibromatosis
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Neuroblastoma
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
Distal 22q11.2 microdeletion syndrome
Ondine syndrome
Synonym(s):
- Familial MTC
Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536911
Gene symbol UniProt reference OMIM reference
NTRK1 P04629191315
RET P07949164761
No signs/symptoms info available.