Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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:
Generalized abnormality of skin (HP:0011354)

Parent Node:
Prematurely aged appearance (HP:0007495)

..Starting node
..Progeroid facial appearance (HP:0005328)

Term ID:

5328

Name:

Progeroid facial appearance

Synonym:

Aged facial appearance; Premature aged appearance; Prematurely aged face; Prematurely aged facial appearance; Wizened face

Definition:

A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.

Comments:

Reference:

HP:0005328

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aged leonine appearance (HP:0008509)

Premature graying of hair (HP:0002216)

Premature skin wrinkling (HP:0100678)

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:0005328	HP:0005328	Progeroid facial appearance	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0005328	HP:0005328	Progeroid facial appearance	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	29
HP:0005328	HP:0005328	Progeroid facial appearance	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0005328	HP:0005328	Progeroid facial appearance	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0005328	HP:0005328	Progeroid facial appearance	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1	.	172
HP:0005328	HP:0005328	Progeroid facial appearance	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040282 - Frequent	20
HP:0005328	HP:0005328	Progeroid facial appearance	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.	54
HP:0005328	HP:0005328	Progeroid facial appearance	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	158
HP:0005328	HP:0005328	Progeroid facial appearance	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	199
HP:0005328	HP:0005328	Progeroid facial appearance	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040282 - Frequent	199
HP:0005328	HP:0005328	Progeroid facial appearance	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0005328	HP:0005328	Progeroid facial appearance	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0005328	HP:0005328	Progeroid facial appearance	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	55
HP:0005328	HP:0005328	Progeroid facial appearance	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040282 - Frequent	55
HP:0005328	HP:0005328	Progeroid facial appearance	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0005328	HP:0005328	Progeroid facial appearance	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0005328	HP:0005328	Progeroid facial appearance	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0005328	HP:0005328	Progeroid facial appearance	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0005328	HP:0005328	Progeroid facial appearance	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.	3
HP:0005328	HP:0005328	Progeroid facial appearance	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040280 - Obligate	3
HP:0005328	HP:0005328	Progeroid facial appearance	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0005328	HP:0005328	Progeroid facial appearance	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0005328	HP:0005328	Progeroid facial appearance	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent	645
HP:0005328	HP:0005328	Progeroid facial appearance	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040282 - Frequent	11
HP:0005328	HP:0005328	Progeroid facial appearance	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0005328	HP:0005328	Progeroid facial appearance	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0005328	HP:0005328	Progeroid facial appearance	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0005328	HP:0005328	Progeroid facial appearance	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0005328	HP:0005328	Progeroid facial appearance	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0005328	HP:0005328	Progeroid facial appearance	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040282 - Frequent	14
HP:0005328	HP:0005328	Progeroid facial appearance	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome	.	310
HP:0005328	HP:0005328	Progeroid facial appearance	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0005328	HP:0005328	Progeroid facial appearance	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent	83

Genes (24) :ATP6V0A2 B4GALT7 BANF1 CAV1 ELN ERCC1 ERCC3 ERCC4 ERCC6 ERCC8 FBN1 GJB2 GJB6 GORAB KCNJ6 LMNA LMNB2 MTX2 POLR3A PSMB8 RNF113A STUB1 WRN ZMPSTE24

Diseases (27) :OMIM:278250 ORPHA:75496 OMIM:614008 OMIM:606721 OMIM:123700 ORPHA:90322 OMIM:610651 ORPHA:90321 OMIM:133540 OMIM:216400 OMIM:616914 ORPHA:477 OMIM:231070 OMIM:614098 ORPHA:435628 ORPHA:79474 ORPHA:280365 ORPHA:90153 ORPHA:79087 OMIM:619127 ORPHA:3455 OMIM:256040 OMIM:300953 ORPHA:412057 OMIM:277700 OMIM:608612 ORPHA:90154

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen