Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal central motor function (HP:0011442)

Grandparent Node:
Abnormality of higher mental function (HP:0011446)

Parent Node:
Apraxia (HP:0002186)

..Starting node
..Speech apraxia (HP:0011098)

Term ID:

11098

Name:

Speech apraxia

Synonym:

Apraxia of speech; Speech dyspraxia; Verbal dyspraxia

Definition:

A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.

Comments:

Reference:

HP:0011098

Genes and Diseases:

Child Nodes:

Sister Nodes:

Eyelid apraxia (HP:0000658)

Gait apraxia (HP:0010521)

Limb apraxia (HP:0030217)

Oculomotor apraxia (HP:0000657)

Oromotor apraxia (HP:0007301)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011098	HP:0011098	Speech apraxia	0	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	HP:0040282 - Frequent	2
HP:0011098	HP:0011098	Speech apraxia	0	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome	.	2
HP:0011098	HP:0011098	Speech apraxia	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0011098	HP:0011098	Speech apraxia	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040283 - Occasional	82
HP:0011098	HP:0011098	Speech apraxia	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0011098	HP:0011098	Speech apraxia	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0011098	HP:0011098	Speech apraxia	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0011098	HP:0011098	Speech apraxia	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent	143
HP:0011098	HP:0011098	Speech apraxia	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	4
HP:0011098	HP:0011098	Speech apraxia	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040283 - Occasional	23
HP:0011098	HP:0011098	Speech apraxia	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional	351
HP:0011098	HP:0011098	Speech apraxia	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	434
HP:0011098	HP:0011098	Speech apraxia	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0011098	HP:0011098	Speech apraxia	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040281 - Very frequent	434
HP:0011098	HP:0011098	Speech apraxia	0	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040281 - Very frequent	434
HP:0011098	HP:0011098	Speech apraxia	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0011098	HP:0011098	Speech apraxia	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0011098	HP:0011098	Speech apraxia	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0011098	HP:0011098	Speech apraxia	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040281 - Very frequent	140
HP:0011098	HP:0011098	Speech apraxia	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0011098	HP:0011098	Speech apraxia	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0011098	HP:0011098	Speech apraxia	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0011098	HP:0011098	Speech apraxia	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0011098	HP:0011098	Speech apraxia	0	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0011098	HP:0011098	Speech apraxia	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0011098	HP:0011098	Speech apraxia	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040283 - Occasional	53
HP:0011098	HP:0011098	Speech apraxia	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040282 - Frequent	150
HP:0011098	HP:0011098	Speech apraxia	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0011098	HP:0011098	Speech apraxia	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0011098	HP:0011098	Speech apraxia	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0011098	HP:0011098	Speech apraxia	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0011098	HP:0011098	Speech apraxia	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional	66
HP:0011098	HP:0011098	Speech apraxia	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040281 - Very frequent	138
HP:0011098	HP:0011098	Speech apraxia	0	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia	.	50
HP:0011098	HP:0011098	Speech apraxia	0	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040281 - Very frequent	50
HP:0011098	HP:0011098	Speech apraxia	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0011098	HP:0011098	Speech apraxia	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.	27
HP:0011098	HP:0011098	Speech apraxia	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome	.	2

Genes (31) :CHD1 CHD3 DLAT DMPK EBF3 FOXP1 FOXP2 FRRS1L GALK1 GALT GRIN2A KANSL1 KDM6B MAPT MED13 NONO PACS1 POU4F1 PRKAR1B PURA RAI1 RNF135 SH2B1 SLC25A15 SLC6A8 SPART SRCAP SRPX2 STUB1 TRAPPC11 USP7

Diseases (36) :ORPHA:529965 OMIM:617682 OMIM:618205 ORPHA:79244 ORPHA:589821 OMIM:617330 OMIM:613670 ORPHA:209908 ORPHA:725 ORPHA:79237 ORPHA:79239 OMIM:245570 ORPHA:98818 ORPHA:163721 ORPHA:363958 ORPHA:363965 OMIM:618505 ORPHA:240112 OMIM:618009 ORPHA:466791 OMIM:300967 OMIM:615009 OMIM:619352 OMIM:619680 ORPHA:314655 ORPHA:1713 ORPHA:137634 ORPHA:261197 ORPHA:415 OMIM:300352 ORPHA:101000 ORPHA:2044 OMIM:300643 ORPHA:412057 OMIM:615356 OMIM:616863

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

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