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Hyperparathyroidism - jaw tumor syndrome
1 OMIM reference -
1 associated gene
34 connected diseases
No signs/symptoms info
Disease Type of connection
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Parathyroid carcinoma
Autosomal dominant nonsyndromic intellectual deficit
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Acute necrotizing encephalopathy of childhood
Familial acute necrotizing encephalopathy
Inflammatory myofibroblastic tumor
Fuchs endothelial corneal dystrophy
Pallister-Hall syndrome
Pitt-Hopkins syndrome
Primary sclerosing cholangitis
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Estrogen resistance syndrome
Familial short QT syndrome
ICF syndrome
Infantile Refsum disease
Isolated anophthalmia - microphthalmia
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Metachondromatosis
Neonatal adrenoleukodystrophy
Noonan syndrome
Periventricular nodular heterotopia
Pilocytic astrocytoma
Romano-Ward syndrome
Septo-optic dysplasia
Zellweger syndrome
Intellectual deficit, X-linked, Nascimento type
Synonym(s):
- HPT-JT
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare oncologic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CDC73 Q6P1J9607393
No signs/symptoms info available.