Version May 2024
| Inheritance | Chromosomal locus | Cytogenetic/genetic alteration | OMIM phenotype number (#) | Clinical findings associated with chronic hypoparathyroidism | |
| Disorders of parathyroid gland formation | |||||
| DiGeorge syndrome type 1 (DGS1) | AD | 22q11.21 | del. (TBX1) | 188400 | Thymic hypoplasia with immune deficiency, conotruncal heart malformations, cleft palate, dysmorphic facies, short stature, developmental delay, gastrointestinal issues, thrombocytopenia, cognitive impairment, psychiatric disorders |
| DiGeorge syndrome type 2 (DGS2) | AD | 10p14-p13 | del. (NEBL) | 601362 | |
| CHARGE syndrome | AD | 8q12.2 | CHD7 | 214800 | Choanal atresia and malformations of the heart, inner ear (deafness), and retina (coloboma), poor growth, genital hypoplasia |
| Hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) | AD | 10p14 | GATA3 | 146255 | Deafness, renal dysplasia |
| Sanjad-Sakati syndrome | AR | 1q42.3 | TBCE | 241410 | Growth attenuation, dysmorphic facial features, developmental delay |
| Kenny-Caffey syndrome type 1 (KCS1) | AR | 1q42.3 | TBCE | 244460 | Severe proportionate short stature, cortical thickening with medullary stenosis of the tubular bones, craniofacial abnormalities, eye abnormalities |
| Kenny-Caffey syndrome type 2 (KCS2) | AD | 11q12.1 | FAM111A | 127000 | |
| Gracile bone dysplasia (GCLEB) | AD | 11q12.1 | FAM111A | 602361 | Gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia |
| Kearns-Sayre syndrome (KSS) | – | – | Mitochondrial DNA | 530000 | Ophthalmoplegia, pigmentary degeneration of the retina, and cardiomyopathy |
| Pearson marrow-pancreas syndrome | – | – | Mitochondrial DNA | 557000 | Bone marrow failure (altered hematopoietic precursors), diabetes, malabsorption |
| Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) | – | – | Mitochondrial DNA | 540000 | Myopathy, encephalopathy, lactic acidosis, stroke-like episodes, seizures, cortical blindness, hemianopsia, episodic vomiting |
| Mitochondrial trifunctional protein deficiency syndrome (MTPD) | AR | 2p23.3 | HADHA, HADHB | 609015 | Hypoglycemia, cardiomyopathy, myopathy with hypotonia, episodic vomiting, liver disease, peripheral neuropathy |
| Medium-chain acyl-CoA dehydrogenase deficiency (ACADMD) | AR | 1p31.1 | ACADM | 201450 | Hypoglycemia, lethargy, vomiting, seizures |
| Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) | AR | 2p23.3 | HADHA | 609016 | Recurrent hypoglycemia, rapidly progressive myopathy, cardiomyopathy |
| Smith-Lemli-Opitz syndrome (SLOS) | AR | 11q13.4 | DHCR7 | 270400 | Multiple congenital malformations (microcephaly, atypical genital appearance and nostrils), intellectual disability, adrenal insufficiency |
| Familial isolated hypoparathyroidism type 2 (FIH2) | AD, AR | 6p24.2 | GCM2 | 618883 | – |
| Hypoparathyroidism X-linked recessive (HYPX) | XLR | Xq27.1 | del./ins. (SOX3) | 307700 | – |
| Disorders of parathyroid hormone secretion | |||||
| Autosomal dominant hypocalcemia with hypercalciuria type 1 (ADH1)/Bartter syndrome subtype 5 | AD | 3q13.3-q21.1 | CaSR | 601198 | Hypomagnesemia, hypercalciuria; possibly associated with Bartter syndrome |
| Autosomal dominant hypocalcemia with hypercalciuria type 2 (ADH2) | AD | 19p13.3 | GNA11 | 615361 | Hypomagnesemia, hypercalciuria |
| Familial isolated hypoparathyroidism type 1 (FIH) | AD, AR | 11p15.3 | PTH | 146200 | – |
| Hypomagnesemia syndromes | |||||
| AR | 9q21.13 | TRPM6 | 602014 | Hypercalciuria, nephrocalcinosis |
| AD | 11q23.3 | FXYD2 | 154020 | Hypocalciuria |
| AR | 3q28 | CLDN16 | 248250 | Progressive loss of kidney function, amelogenesis imperfecta |
| AR | 4q25 | EGF | 611718 | Mild to moderate developmental delay; seizures |
| AR | 1p34.2 | CLDN19 | 248190 | Progressive kidney failure, nephrocalcinosis, and severe visual impairment, amelogenesis imperfecta |
| AD | 10q24.32 | CNNM2 | 613882 | – |
| Gitelman syndrome (GTLMNS) | AR | 16q13 | SLC12A3 | 263800 | Hypokalemic metabolic alkalosis, hypocalciuria, abdominal pains, chondrocalcinosis |
| Episodic ataxia type 1 (EA1) | AD | 12p13.32 | KCNA1 | 160120 | Spells of incoordination and imbalance, often associated with progressive ataxia |
| Hypomagnesemia, hypertension, and hypercholesterolemia syndrome | – | – | Mitochondrial DNA | 500005 | Hypertension, hypercholesterolemia |
| Hypomagnesemia, seizures, and impaired intellectual development 1 (HOMGSMR1) | AD, AR | 10q24.32 | CNNM2 | 616418 | Seizures, delayed psychomotor development |
| Hypomagnesemia, seizures, and impaired intellectual development 2 (HOMGSMR2) | AD | 1p13.1 | ATP1A1 | 618314 | Significantly impaired intellectual development |
| Damage to the parathyroid glands | |||||
| Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) | AD, AR | 21q22.3 | AIRE | 240300 | Adrenal insufficiency, chronic mucocutaneous candidiasis, and other possible autoimmune diseases, eg, celiac disease, vitiligo, type 1 diabetes, hypogonadism |
| Other autoimmune polyendocrine syndromes | – | – | (Polygenic, HLA-related) | – | Association of organ-specific autoimmune diseases |
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