Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Abnormalities, Multiple (D000015)
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Growth Disorders (D006130)
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Hypoparathyroidism (D007011)
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Intellectual Disability (D008607)
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Osteochondrodysplasias (D010009)
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Seizures (D012640)
..Starting node
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Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)

       Child Nodes:



 Sister Nodes: 
..expandAdams Nance syndrome (C538224)
..expandAlcohol Withdrawal Seizures (D020270)
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandConvulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..expandCopper deficiency, familial benign (C535468)
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDysmyelination With Jaundice (C565610)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..expandHyper-Beta-Alaninemia (C562684)
..expandHyperleucine-Isoleucinemia (C562674)
..expandHyperphosphatemia, Polyuria, and Seizures (C565494)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..expandMental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMethionine Malabsorption Syndrome (C562682)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMuller Barth Menger syndrome (C537370)
..expandPACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPerniola Krajewska Carnevale syndrome (C536660)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..expandQazi Markouizos syndrome (C536259)
..expandSeSAME syndrome (C557674)
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWarman Mulliken Hayward syndrome (C536684)
..expandX-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
1 HP:0000007Autosomal recessive inheritance
2 HP:0000193Bifid uvula
3 HP:0008198Congenital hypoparathyroidism
4 HP:0000444Convex nasal ridge
5 HP:0000028Cryptorchidism
6 HP:0000824Decreased response to growth hormone stimulation test
7 HP:0000490Deeply set eye
8 HP:0012448Delayed myelination
9 HP:0002750Delayed skeletal maturation
10 HP:0005280Depressed nasal bridge
11 HP:0002007Frontal bossing
12 HP:0002905Hyperphosphatemia
13 HP:0002901Hypocalcemia
14 HP:0002199Hypocalcemic seizures
15 HP:0002079Hypoplasia of the corpus callosum
16 HP:0001249Intellectual disability
17 HP:0000343Long philtrum
18 HP:0000369Low-set ears
19 HP:0000252Microcephaly
20 HP:0000347Micrognathia
21 HP:0000054Micropenis
22 HP:0005686Patchy osteosclerosis
23 HP:0000358Posteriorly rotated ears
24 HP:0008897Postnatal growth retardation
25 HP:0011220Prominent forehead
26 HP:0002718Recurrent bacterial infections
27 HP:0001250Seizure
28 HP:0008846Severe intrauterine growth retardation
29 HP:0001773Short foot
30 HP:0004279Short palm
31 HP:0200055Small hand
32 HP:0001281Tetany
33 HP:0000233Thin vermilion border
34 HP:0002119Ventriculomegaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_003193.4(TBCE):c.154_165delAGCCACGAAGGG (p.Ser52_Gly55del)6905TBCEPathogenic786205075RCV000005608; RCV000191990; NMedGen:C1855648,OMIM:244460,ORPHA:93324; MedGen:C1855840,OMIM:241410,ORPHA:23231235564871235564882NM_003193.4:c.154_165delAGCCACGAAGGGNP_003184.1:p.Ser52_Gly55delNC_000001.10:g.235564871_235564882delAGCCACGAAGGGOMIM Allelic Variant:604934.0001C1855840 241410 Hypoparathyroidism retardation dysmorphism syndrome; C1855648 244460 Kenny-Caffey syndrome type 1
NM_001079515.2(TBCE):c.1113T>A (p.Cys371Ter)6905TBCEPathogenic121908384RCV000005611; NMedGen:C1855840,OMIM:241410,ORPHA:23231235600786235600786NM_001079515.2:c.1113T>ANP_001072983.1:p.Cys371TerNC_000001.10:g.235600786T>AOMIM Allelic Variant:604934.0003C1855840 241410 Hypoparathyroidism retardation dysmorphism syndrome