Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAtrophy (D001284)
Parent Node:
expandBrain Diseases (D001927)
Parent Node:
expandMicrocephaly (D008831)
Parent Node:
expandSeizures (D012640)
..Starting node
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)

       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:7185
Name:MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
Definition:
Alternative IDs:
ParentIDs:MESH:D001284|MESH:D001927|MESH:D008831|MESH:D012640
TreeNumbers:C05.660.207.620/613668 |C10.228.140.490.631/613668 |C10.228.140/613668 |C10.500.507.400.500/613668 |C10.597.742/613668 |C16.131.621.207.620/613668 |C16.131.666.507.400.500/613668 |C23.300.070/613668 |C23.888.592.742/613668
Synonyms:
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms
Reference: MedGen: 613668
MeSH: 613668
OMIM: 613668;

Genes: MED17;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002169Clonus
3 HP:0002506Diffuse cerebral atrophy
4 HP:0002015Dysphagia
5 HP:0001508Failure to thrive
6 HP:0011968Feeding difficulties
7 HP:0001263Global developmental delay
8 HP:0002521Hypsarrhythmia
9 HP:0003676Progressive
10 HP:0000253Progressive microcephaly
11 HP:0005484Secondary microcephaly
12 HP:0001250Seizure
13 HP:0001257Spasticity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_004268.4(MED17):c.571C>T (p.Arg191Trp)9440MED17Likely pathogenic587780394RCV000117613; NMedGen:C3150921,OMIM:613668,ORPHA:402364119352389393523893NM_004268.4:c.571C>TNP_004259.3:p.Arg191TrpNC_000011.9:g.93523893C>T-C3150921 613668 Microcephaly, postnatal progressive, with seizures and brain atrophy
NM_004268.4(MED17):c.1112T>C (p.Leu371Pro)9440MED17Pathogenic267607232RCV000006410; NMedGen:C3150921,OMIM:613668,ORPHA:402364119352967593529675NM_004268.4:c.1112T>CNP_004259.3:p.Leu371ProNC_000011.9:g.93529675T>COMIM Allelic Variant:603810.0001C3150921 613668 Microcephaly, postnatal progressive, with seizures and brain atrophy