Human Phenotype Ontology 
Grandparent Node:
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Abnormality of higher mental function (HP:0011446)help
Parent Node:
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Neurological speech impairment (HP:0002167)help
..Starting node
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Loss of speech (HP:0002371)help
Term ID: 2371
Name: Loss of speech
Synonym: Loss of speech
Definition:
Comments:
Reference: HP:0002371
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent speech (HP:0001344) help
..expandAlexia (HP:0010523) help
..expandAnarthria (HP:0002425) help
..expandAnomic aphasia (HP:0030784) help
..expandAphasia (HP:0002381) help
..expandDeficit in nonword repetition (HP:0002526) help
..expandDysarthria (HP:0001260) help
..expandDysgraphia (HP:0010526) help
..expandDysphonia (HP:0001618) help
..expandEcholalia (HP:0010529) help
..expandGrammar-specific speech disorder (HP:0006977) help
..expandIncomprehensible speech (HP:0002546) help
..expandMutism (HP:0002300) help
..expandobsolete Dysphasia (HP:0002357) help
..expandPalilalia (HP:0031814) help
..expandPoor speech (HP:0002465) help
..expandScanning speech (HP:0002168) help
..expandStuttering (HP:0025268) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002371HP:0002371Loss of speech0AARS2 CL E G H5750521022OMIM:615889Leukoencephalopathy, progressive, with ovarian failure.143
HP:0002371HP:0002371Loss of speech0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy.135
HP:0002371HP:0002371Loss of speech0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0002371HP:0002371Loss of speech0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6.116
HP:0002371HP:0002371Loss of speech0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0002371HP:0002371Loss of speech0ALS2 CL E G H57679443ORPHA:247604Juvenile primary lateral sclerosisHP:0040282 - Frequent114
HP:0002371HP:0002371Loss of speech0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0002371HP:0002371Loss of speech0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional253
HP:0002371HP:0002371Loss of speech0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional253
HP:0002371HP:0002371Loss of speech0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040283 - Occasional253
HP:0002371HP:0002371Loss of speech0BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy.105
HP:0002371HP:0002371Loss of speech0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent56
HP:0002371HP:0002371Loss of speech0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent405
HP:0002371HP:0002371Loss of speech0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent42
HP:0002371HP:0002371Loss of speech0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 7.42
HP:0002371HP:0002371Loss of speech0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040282 - Frequent111
HP:0002371HP:0002371Loss of speech0ERLIN2 CL E G H111601356ORPHA:247604Juvenile primary lateral sclerosisHP:0040282 - Frequent18
HP:0002371HP:0002371Loss of speech0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent5
HP:0002371HP:0002371Loss of speech0GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040284 - Very rare160
HP:0002371HP:0002371Loss of speech0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0002371HP:0002371Loss of speech0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variantHP:0040282 - Frequent69
HP:0002371HP:0002371Loss of speech0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0002371HP:0002371Loss of speech0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040281 - Very frequent434
HP:0002371HP:0002371Loss of speech0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent126
HP:0002371HP:0002371Loss of speech0HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC.86
HP:0002371HP:0002371Loss of speech0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0002371HP:0002371Loss of speech0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0002371HP:0002371Loss of speech0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0002371HP:0002371Loss of speech0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040284 - Very rare136
HP:0002371HP:0002371Loss of speech0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent140
HP:0002371HP:0002371Loss of speech0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent950
HP:0002371HP:0002371Loss of speech0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2.
HP:0002371HP:0002371Loss of speech0NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1.258
HP:0002371HP:0002371Loss of speech0NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C2.33
HP:0002371HP:0002371Loss of speech0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent1
HP:0002371HP:0002371Loss of speech0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1.172
HP:0002371HP:0002371Loss of speech0PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency.81
HP:0002371HP:0002371Loss of speech0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional81
HP:0002371HP:0002371Loss of speech0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional81
HP:0002371HP:0002371Loss of speech0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040283 - Occasional81
HP:0002371HP:0002371Loss of speech0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent241
HP:0002371HP:0002371Loss of speech0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0002371HP:0002371Loss of speech0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0002371HP:0002371Loss of speech0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0002371HP:0002371Loss of speech0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0002371HP:0002371Loss of speech0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0002371HP:0002371Loss of speech0SARDH CL E G H175710536ORPHA:3129SarcosinemiaHP:0040283 - Occasional4
HP:0002371HP:0002371Loss of speech0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0002371HP:0002371Loss of speech0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent135
HP:0002371HP:0002371Loss of speech0SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosisHP:0040282 - Frequent171
HP:0002371HP:0002371Loss of speech0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent62
HP:0002371HP:0002371Loss of speech0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent
HP:0002371HP:0002371Loss of speech0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)HP:0040283 - Occasional21
HP:0002371HP:0002371Loss of speech0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent31
HP:0002371HP:0002371Loss of speech0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0002371HP:0002371Loss of speech0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent63


Genes (46) :AARS2 ABCD1 ADAR ALDH18A1 ALS2 ARSA BSCL2 C9ORF72 CDKL5 CHMP2B CLN8 ERLIN2 GABBR2 GALC GM2A GRIN2A GRN HGSNAT IFIH1 IRF2BPL LSM11 MAN2B1 MAPT MECP2 NAXD NPC1 NPC2 NTNG1 PPT1 PSAP PSEN1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SARDH SLC19A3 SMC1A SPG7 SQSTM1 TMEM106B TPK1 TREM2 TREX1 VCP

Diseases (32) :OMIM:615889 OMIM:300100 ORPHA:51 OMIM:615010 ORPHA:447760 ORPHA:247604 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 OMIM:615924 ORPHA:275864 ORPHA:3095 OMIM:600795 ORPHA:1947 ORPHA:206448 ORPHA:206443 ORPHA:309246 OMIM:272750 ORPHA:98818 OMIM:252930 OMIM:618088 ORPHA:309282 OMIM:618321 OMIM:257220 OMIM:607625 OMIM:256730 OMIM:249900 ORPHA:3129 OMIM:607483 ORPHA:35689 OMIM:614458
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.