Phenotype: Hyperparathyroidism (HP:0000843)
Associated genes and diseases:
gene_symbol: SLC12A1
disease_id: OMIM:601678
disease_name: BARTTER SYNDROME, TYPE 1, ANTENATAL
gene_symbol: VDR
disease_id: ORPHA:93160
disease_name: Hypocalcemic vitamin D-resistant rickets
HVDRR
Hereditary vitamin D-resistant rickets
VDDR II
VDRR II
Vitamin D-dependent rickets type II
Vitamin D-resistant rickets type II
gene_symbol: CLDN10
disease_id: OMIM:617671
disease_name: HELIX SYNDROME
gene_symbol: RET
disease_id: OMIM:171400
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
gene_symbol: GNAS
disease_id: OMIM:174800
disease_name: MCCUNE-ALBRIGHT SYNDROME
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: TRPV6
disease_id: OMIM:618188
disease_name: HYPERPARATHYROIDISM, TRANSIENT NEONATAL
gene_symbol: CDC73
disease_id: OMIM:145001
disease_name: HYPERPARATHYROIDISM 2 WITH JAW TUMORS
gene_symbol: CDC73
disease_id: OMIM:608266
disease_name: PARATHYROID CARCINOMA
gene_symbol: CASR
disease_id: OMIM:145980
disease_name: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I
gene_symbol: ACTG2
disease_id: ORPHA:2604
disease_name: Familial visceral myopathy
Familial hollow visceral myopathy
Hereditary hollow visceral myopathy
Megaduodenum and/or megacystis
gene_symbol: GALNT3
disease_id: OMIM:211900
disease_name: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
gene_symbol: PLEKHM1
disease_id: OMIM:618107
disease_name: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3
gene_symbol: SLC4A2
disease_id: OMIM:620366
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9
gene_symbol: CDKN1B
disease_id: OMIM:610755
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV
gene_symbol: CDKN1B
disease_id: ORPHA:276152
disease_name: Multiple endocrine neoplasia type 4
MEN4
gene_symbol: KCNJ10
disease_id: ORPHA:705
disease_name: Pendred syndrome
Goiter-deafness syndrome
Goiter-hearing loss syndrome
gene_symbol: FOXI1
disease_id: ORPHA:705
disease_name: Pendred syndrome
Goiter-deafness syndrome
Goiter-hearing loss syndrome
gene_symbol: SLC26A4
disease_id: ORPHA:705
disease_name: Pendred syndrome
Goiter-deafness syndrome
Goiter-hearing loss syndrome
gene_symbol: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
gene_symbol: ANKH
disease_id: OMIM:123000
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: PHEX
disease_id: ORPHA:89936
disease_name: X-linked hypophosphatemia
X-linked hypophosphatemic rickets
XLH
gene_symbol: CYP27B1
disease_id: OMIM:264700
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
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: CA2
disease_id: ORPHA:2785
disease_name: Osteopetrosis with renal tubular acidosis
Carbonic anhydrase 2 deficiency
Guibaud-Vainsel syndrome
Marble brain disease
Mixed RTA
Mixed renal tubular acidosis
Renal tubular acidosis type 3
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: MEN1
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: MEN1
disease_id: OMIM:145000
disease_name: HYPERPARATHYROIDISM 1
gene_symbol: MEN1
disease_id: ORPHA:99879
disease_name: Familial isolated hyperparathyroidism
FIHPT
gene_symbol: MEN1
disease_id: ORPHA:97279
disease_name: Insulinoma
gene_symbol: CDKN1A
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2C
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: AP2S1
disease_id: OMIM:600740
disease_name: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III
gene_symbol: GCM2
disease_id: OMIM:617343
disease_name: HYPERPARATHYROIDISM 4
gene_symbol: GCM2
disease_id: ORPHA:99879
disease_name: Familial isolated hyperparathyroidism
FIHPT
gene_symbol: ARMC5
disease_id: ORPHA:189427
disease_name: Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
gene_symbol: KDM1A
disease_id: ORPHA:189427
disease_name: Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
gene_symbol: GNA11
disease_id: OMIM:145981
disease_name: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II
gene_symbol: YY1
disease_id: ORPHA:97279
disease_name: Insulinoma