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Hypercalcemic tumoral calcinosis
1 OMIM reference -
3 associated genes
37 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant hypophosphatemic rickets
Giant cell glioblastoma
Gliosarcoma
Pfeiffer syndrome type 1
Cutis gyrata - acanthosis nigricans - craniosynostosis
Lacrimo-auriculo-dento-digital syndrome
Saethre-Chotzen syndrome
Hartsfield-Bixler-Demyer syndrome
Isolated trigonocephaly
Kallmann syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia
Osteoglophonic dwarfism
Pilocytic astrocytoma
Septo-optic dysplasia
Achondroplasia
Antley-Bixler syndrome
Apert syndrome
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon disease
Crouzon syndrome - acanthosis nigricans
FGFR2-related bent bone dysplasia
Familial scaphocephaly syndrome, McGillivray type
Growth delay due to insulin-like growth factor I resistance
Hypochondroplasia
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Jackson-Weiss syndrome
Muenke syndrome
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
X-linked hypophosphatemia
Synonym(s):
- GALNT3-CDG
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FGF23 Q9GZV9605380
GALNT3 Q14435601756
KL Q9UEF7604824
No signs/symptoms info available.