Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated genes and diseases:
gene_symbol: CYP3A4
disease_id: OMIM:619073
disease_name: VITAMIN D-DEPENDENT RICKETS, TYPE 3
gene_symbol: PHEX
disease_id: OMIM:307800
disease_name: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: CDC73
disease_id: ORPHA:99880
disease_name: Hyperparathyroidism-jaw tumor syndrome
HPT-JT
gene_symbol: CDC73
disease_id: ORPHA:99879
disease_name: Familial isolated hyperparathyroidism
FIHPT
gene_symbol: CDC73
disease_id: ORPHA:143
disease_name: Parathyroid carcinoma
gene_symbol: KL
disease_id: OMIM:617994
disease_name: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
gene_symbol: CYP27B1
disease_id: ORPHA:289157
disease_name: Hypocalcemic vitamin D-dependent rickets
1-alpha-hydroxylase deficiency
PDDRI
Pseudovitamin D-deficient rickets
VDDI
VDDR-I
Vitamin D dependent rickets type I
Vitamin D-dependency type I
gene_symbol: CYP27B1
disease_id: OMIM:264700
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
gene_symbol: CYP2R1
disease_id: ORPHA:289157
disease_name: Hypocalcemic vitamin D-dependent rickets
1-alpha-hydroxylase deficiency
PDDRI
Pseudovitamin D-deficient rickets
VDDI
VDDR-I
Vitamin D dependent rickets type I
Vitamin D-dependency type I
gene_symbol: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
gene_symbol: GNAS
disease_id: OMIM:612462
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IC
gene_symbol: GNAS
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
gene_symbol: GNAS
disease_id: ORPHA:79443
disease_name: Pseudohypoparathyroidism type 1A
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
gene_symbol: GNAS
disease_id: ORPHA:79444
disease_name: Pseudohypoparathyroidism type 1C
gene_symbol: GNAS
disease_id: ORPHA:79445
disease_name: Pseudopseudohypoparathyroidism
AHO-PPHP syndrome
Albright hereditary osteodystrophy-PPHP syndrome
gene_symbol: GNAS
disease_id: OMIM:603233
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IB
gene_symbol: GNAS
disease_id: OMIM:103580
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IA
gene_symbol: CMPK2
disease_id: OMIM:621018
disease_name: OMIM:621018
gene_symbol: MEN1
disease_id: ORPHA:99879
disease_name: Familial isolated hyperparathyroidism
FIHPT
gene_symbol: GCM2
disease_id: ORPHA:99879
disease_name: Familial isolated hyperparathyroidism
FIHPT
gene_symbol: PTH1R
disease_id: ORPHA:33067
disease_name: Metaphyseal chondrodysplasia, Jansen type
gene_symbol: STX16
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
gene_symbol: STX16
disease_id: OMIM:603233
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IB
gene_symbol: GNAS-AS1
disease_id: OMIM:603233
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IB
gene_symbol: PDE4D
disease_id: ORPHA:439822
disease_name: PDE4D haploinsufficiency syndrome
gene_symbol: VDR
disease_id: OMIM:277440
disease_name: VITAMIN D-DEPENDENT RICKETS, TYPE 2A
gene_symbol: SLC34A1
disease_id: OMIM:613388
disease_name: FANCONI RENOTUBULAR SYNDROME 2
gene_symbol: MIR140
disease_id: OMIM:618618
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: PRKAR1A
disease_id: OMIM:101800
disease_name: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
gene_symbol: CASR
disease_id: OMIM:239200
disease_name: HYPERPARATHYROIDISM, NEONATAL SEVERE
gene_symbol: CDKN1B
disease_id: ORPHA:276152
disease_name: Multiple endocrine neoplasia type 4
MEN4
gene_symbol: SOST
disease_id: OMIM:122860
disease_name: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT