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 facial expression (HP:0005346)

Parent Node:
Decreased facial expression (HP:0004673)

..Starting node
..Myopathic facies (HP:0002058)

Term ID:

2058

Name:

Myopathic facies

Synonym:

Myopathic face; Myopathic facial appearance

Definition:

A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.

Comments:

Reference:

HP:0002058

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fixed facial expression (HP:0005329)

Hypomimic face (HP:0000338)

Loss of facial expression (HP:0005327)

Mask-like facies (HP:0000298)

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:0002058	HP:0002058	Myopathic facies	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	96
HP:0002058	HP:0002058	Myopathic facies	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	96
HP:0002058	HP:0002058	Myopathic facies	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0002058	HP:0002058	Myopathic facies	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0002058	HP:0002058	Myopathic facies	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.	3
HP:0002058	HP:0002058	Myopathic facies	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation	.	1
HP:0002058	HP:0002058	Myopathic facies	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0002058	HP:0002058	Myopathic facies	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional	3
HP:0002058	HP:0002058	Myopathic facies	0	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81		3
HP:0002058	HP:0002058	Myopathic facies	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.	26
HP:0002058	HP:0002058	Myopathic facies	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent	26
HP:0002058	HP:0002058	Myopathic facies	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0002058	HP:0002058	Myopathic facies	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0002058	HP:0002058	Myopathic facies	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0002058	HP:0002058	Myopathic facies	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.	43
HP:0002058	HP:0002058	Myopathic facies	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0002058	HP:0002058	Myopathic facies	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0002058	HP:0002058	Myopathic facies	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.	34
HP:0002058	HP:0002058	Myopathic facies	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0002058	HP:0002058	Myopathic facies	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.	2
HP:0002058	HP:0002058	Myopathic facies	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	127
HP:0002058	HP:0002058	Myopathic facies	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent	13
HP:0002058	HP:0002058	Myopathic facies	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0002058	HP:0002058	Myopathic facies	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	13
HP:0002058	HP:0002058	Myopathic facies	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0002058	HP:0002058	Myopathic facies	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional	411
HP:0002058	HP:0002058	Myopathic facies	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0002058	HP:0002058	Myopathic facies	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0002058	HP:0002058	Myopathic facies	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0002058	HP:0002058	Myopathic facies	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	.	105
HP:0002058	HP:0002058	Myopathic facies	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0002058	HP:0002058	Myopathic facies	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	HP:0040283 - Occasional	1269
HP:0002058	HP:0002058	Myopathic facies	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0002058	HP:0002058	Myopathic facies	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	131
HP:0002058	HP:0002058	Myopathic facies	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	745
HP:0002058	HP:0002058	Myopathic facies	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0002058	HP:0002058	Myopathic facies	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0002058	HP:0002058	Myopathic facies	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0002058	HP:0002058	Myopathic facies	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0002058	HP:0002058	Myopathic facies	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.	53
HP:0002058	HP:0002058	Myopathic facies	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040282 - Frequent	53
HP:0002058	HP:0002058	Myopathic facies	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0002058	HP:0002058	Myopathic facies	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040283 - Occasional	1200
HP:0002058	HP:0002058	Myopathic facies	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0002058	HP:0002058	Myopathic facies	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent	1200
HP:0002058	HP:0002058	Myopathic facies	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0002058	HP:0002058	Myopathic facies	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0002058	HP:0002058	Myopathic facies	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0002058	HP:0002058	Myopathic facies	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	144
HP:0002058	HP:0002058	Myopathic facies	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040282 - Frequent	113
HP:0002058	HP:0002058	Myopathic facies	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent	57
HP:0002058	HP:0002058	Myopathic facies	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0002058	HP:0002058	Myopathic facies	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0002058	HP:0002058	Myopathic facies	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine	.	4
HP:0002058	HP:0002058	Myopathic facies	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0002058	HP:0002058	Myopathic facies	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	14
HP:0002058	HP:0002058	Myopathic facies	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040281 - Very frequent	14
HP:0002058	HP:0002058	Myopathic facies	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0002058	HP:0002058	Myopathic facies	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0002058	HP:0002058	Myopathic facies	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0002058	HP:0002058	Myopathic facies	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	54
HP:0002058	HP:0002058	Myopathic facies	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0002058	HP:0002058	Myopathic facies	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	108
HP:0002058	HP:0002058	Myopathic facies	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	108
HP:0002058	HP:0002058	Myopathic facies	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent	35
HP:0002058	HP:0002058	Myopathic facies	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0002058	HP:0002058	Myopathic facies	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.	2
HP:0002058	HP:0002058	Myopathic facies	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29

Genes (51) :ACTA1 BCL11B CCDC174 CERT1 COL25A1 DMXL2 DPM2 EBF3 ERGIC1 GFM2 GIPC1 GLE1 GMPPB HACD1 HOXB1 ITGA7 KCNH1 KLHL41 KNSTRN LAMA2 LRP12 MAP3K20 MSTO1 MYH2 MYH7 MYL1 MYL2 NEB NOTCH2NLC PIEZO2 PIK3CD PURA PYROXD1 RYR1 SCYL2 SELENON SGCB SLC16A2 SLC52A3 SLC6A8 SLC6A9 SPTBN4 STAC3 TAFAZZIN TANGO2 TNPO2 TPM2 TPM3 UBA1 VAMP1 VPS41

Diseases (54) :ORPHA:2020 ORPHA:171433 OMIM:161800 OMIM:617237 OMIM:618092 OMIM:616816 OMIM:616351 ORPHA:1143 OMIM:618663 OMIM:615042 ORPHA:329178 OMIM:617330 ORPHA:565624 OMIM:618397 ORPHA:98897 OMIM:611890 OMIM:615351 OMIM:614744 ORPHA:420561 OMIM:611816 ORPHA:221139 ORPHA:258 OMIM:164310 OMIM:617675 OMIM:605637 ORPHA:437572 OMIM:255160 OMIM:618414 OMIM:256030 OMIM:617146 OMIM:616158 ORPHA:438216 OMIM:617258 ORPHA:324581 ORPHA:98905 ORPHA:424107 OMIM:619542 OMIM:255320 ORPHA:119 ORPHA:59 OMIM:211530 OMIM:300352 OMIM:617301 OMIM:617519 OMIM:255995 ORPHA:168572 OMIM:302060 OMIM:616878 OMIM:619556 OMIM:609285 ORPHA:1145 OMIM:301830 OMIM:618323 OMIM:619389

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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