Disease Browser
Parent Node: Abnormalities, Multiple (D000015) Parent Node: Growth Disorders (D006130) Parent Node: Hypoparathyroidism (D007011) Parent Node: Intellectual Disability (D008607) Parent Node: Osteochondrodysplasias (D010009) Parent Node: Seizures (D012640) ..Starting node .. Hypoparathyroidism-retardation-dysmorphism syndrome (C537157) Child Nodes:
Sister Nodes: ..Adams Nance syndrome (C538224) ..Alcohol Withdrawal Seizures (D020270) ..Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370) ..Baraitser Rodeck Garner syndrome (C537906) ..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401) ..Chromosome 15q13.3 Microdeletion Syndrome (C567439) ..Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678) ..Copper deficiency, familial benign (C535468) ..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840) ..Dysmyelination With Jaundice (C565610) ..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721) ..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722) ..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477) ..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720) ..Hyper-Beta-Alaninemia (C562684) ..Hyperleucine-Isoleucinemia (C562674) ..Hyperphosphatemia, Polyuria, and Seizures (C565494) ..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157) ..Hypotonia, Seizures, And Precocious Puberty (C567566) ..Infantile convulsions and paroxysmal choreoathetosis, familial (C535522) ..Mental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452) ..Mental retardation, X-linked, syndromic 5 (C535773) ..Methionine Malabsorption Syndrome (C562682) ..Microcephaly seizures genital hypoplasia (C537540) ..Microcephaly seizures mental retardation heart disorders (C537544) ..Microcephaly sparse hair mental retardation seizures (C537545) ..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668) ..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402) ..Muller Barth Menger syndrome (C537370) ..PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176) ..Partington X-linked mental retardation syndrome (C536300) ..Perniola Krajewska Carnevale syndrome (C536660) ..Phosphoglycerate Dehydrogenase Deficiency (C566618) ..Phosphoserine Aminotransferase Deficiency (C567032) ..Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449) ..Qazi Markouizos syndrome (C536259) ..SeSAME syndrome (C557674) ..Tranebjaerg Svejgaard syndrome (C536978) ..Warman Mulliken Hayward syndrome (C536684) ..X-linked mental retardation Gustavson type (C536759) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 5595
Name: Hypoparathyroidism-retardation-dysmorphism syndrome
Definition:
Alternative IDs: OMIM:241410
ParentIDs: MESH:D000015|MESH:D006130|MESH:D007011|MESH:D008607|MESH:D010009|MESH:D012640
TreeNumbers: C05.116.099.708/C537157 |C10.228.140.490.631/C537157 |C10.597.606.643/C537157 |C10.597.742/C537157 |C16.131.077/C537157 |C19.642.482/C537157 |C23.550.393/C537157 |C23.888.592.604.646/C537157 |C23.888.592.742/C537157 |F03.550.600/C537157
Synonyms: HRD |HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM, GROWTH RETARDATION, AND DEVELOPMENTAL DELAY |Hypoparathyroidism with short stature, mental retardation, and seizures |Sanjad-Sakati syndrome
Slim Mappings: Congenital abnormality|Endocrine system disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference:
MedGen: C537157
MeSH: C537157
OMIM: 241410 ; Genes: TBCE ; Phenotypes Disease Causing ClinVar Variants Variation_Name GeneID GeneSymbol ClinicalSignificance dbSNP RCVaccession TestedInGTR PhenotypeIDs Chromosome Start Stop HGVS_c HGVS_p HGVS_g OtherIDs Disease_ClinVar Disease_hgmd NM_003193.4(TBCE):c.154_165delAGCCACGAAGGG (p.Ser52_Gly55del) 6905 TBCE Pathogenic 786205075 RCV000005608 ; RCV000191990 ; N MedGen:C1855648,OMIM:244460,ORPHA:93324; MedGen:C1855840,OMIM:241410,ORPHA:2323 1 235564871 235564882 NM_003193.4:c.154_165delAGCCACGAAGGG NP_003184.1:p.Ser52_Gly55del NC_000001.10:g.235564871_235564882delAGCCACGAAGGG OMIM Allelic Variant:604934.0001 C1855840 241410 Hypoparathyroidism retardation dysmorphism syndrome; C1855648 244460 Kenny-Caffey syndrome type 1 NM_001079515.2(TBCE):c.1113T>A (p.Cys371Ter) 6905 TBCE Pathogenic 121908384 RCV000005611 ; N MedGen:C1855840,OMIM:241410,ORPHA:2323 1 235600786 235600786 NM_001079515.2:c.1113T>A NP_001072983.1:p.Cys371Ter NC_000001.10:g.235600786T>A OMIM Allelic Variant:604934.0003 C1855840 241410 Hypoparathyroidism retardation dysmorphism syndrome