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:
Abnormality of the vasculature (HP:0002597)

Grandparent Node:
Generalized abnormality of skin (HP:0011354)

Parent Node:
Vascular skin abnormality (HP:0011276)

..Starting node
..Cutis marmorata (HP:0000965)

Term ID:

965

Name:

Cutis marmorata

Synonym:

Definition:

A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.

Comments:

Reference:

HP:0000965

Genes and Diseases:

Child Nodes:

Sister Nodes:

Angioedema (HP:0100665)

Angiokeratoma (HP:0001014)

Erythema (HP:0010783)

Non-pruritic urticaria (HP:0011137)

Prominent superficial blood vessels (HP:0007394)

Subcutaneous hemorrhage (HP:0001933)

Telangiectasia (HP:0001009)

Urticaria (HP:0001025)

Vasculitis in the skin (HP:0200029)

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:0000965	HP:0000965	Cutis marmorata	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0000965	HP:0000965	Cutis marmorata	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0000965	HP:0000965	Cutis marmorata	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	94
HP:0000965	HP:0000965	Cutis marmorata	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome	.	22
HP:0000965	HP:0000965	Cutis marmorata	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040281 - Very frequent	22
HP:0000965	HP:0000965	Cutis marmorata	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0000965	HP:0000965	Cutis marmorata	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0000965	HP:0000965	Cutis marmorata	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0000965	HP:0000965	Cutis marmorata	0	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2	.	19
HP:0000965	HP:0000965	Cutis marmorata	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	147
HP:0000965	HP:0000965	Cutis marmorata	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0000965	HP:0000965	Cutis marmorata	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000965	HP:0000965	Cutis marmorata	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040281 - Very frequent	1
HP:0000965	HP:0000965	Cutis marmorata	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000965	HP:0000965	Cutis marmorata	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0000965	HP:0000965	Cutis marmorata	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.	242
HP:0000965	HP:0000965	Cutis marmorata	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.	13
HP:0000965	HP:0000965	Cutis marmorata	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0000965	HP:0000965	Cutis marmorata	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	9
HP:0000965	HP:0000965	Cutis marmorata	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	HP:0040283 - Occasional	9
HP:0000965	HP:0000965	Cutis marmorata	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	18
HP:0000965	HP:0000965	Cutis marmorata	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0000965	HP:0000965	Cutis marmorata	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	172
HP:0000965	HP:0000965	Cutis marmorata	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	4
HP:0000965	HP:0000965	Cutis marmorata	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	HP:0040283 - Occasional	4
HP:0000965	HP:0000965	Cutis marmorata	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	1361
HP:0000965	HP:0000965	Cutis marmorata	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	23
HP:0000965	HP:0000965	Cutis marmorata	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0000965	HP:0000965	Cutis marmorata	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040281 - Very frequent	16
HP:0000965	HP:0000965	Cutis marmorata	0	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia	HP:0040283 - Occasional
HP:0000965	HP:0000965	Cutis marmorata	0	GUCY1A1 CL E G H	2982	4685	ORPHA:401945	Moyamoya disease with early-onset achalasia	HP:0040283 - Occasional
HP:0000965	HP:0000965	Cutis marmorata	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000965	HP:0000965	Cutis marmorata	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0000965	HP:0000965	Cutis marmorata	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0000965	HP:0000965	Cutis marmorata	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000965	HP:0000965	Cutis marmorata	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent
HP:0000965	HP:0000965	Cutis marmorata	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0000965	HP:0000965	Cutis marmorata	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent	16
HP:0000965	HP:0000965	Cutis marmorata	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0000965	HP:0000965	Cutis marmorata	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	6
HP:0000965	HP:0000965	Cutis marmorata	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0000965	HP:0000965	Cutis marmorata	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	13
HP:0000965	HP:0000965	Cutis marmorata	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	11
HP:0000965	HP:0000965	Cutis marmorata	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0000965	HP:0000965	Cutis marmorata	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040283 - Occasional	418
HP:0000965	HP:0000965	Cutis marmorata	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	418
HP:0000965	HP:0000965	Cutis marmorata	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	326
HP:0000965	HP:0000965	Cutis marmorata	0	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome		12
HP:0000965	HP:0000965	Cutis marmorata	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0000965	HP:0000965	Cutis marmorata	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.	40
HP:0000965	HP:0000965	Cutis marmorata	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0000965	HP:0000965	Cutis marmorata	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000965	HP:0000965	Cutis marmorata	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	452
HP:0000965	HP:0000965	Cutis marmorata	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0000965	HP:0000965	Cutis marmorata	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.	40
HP:0000965	HP:0000965	Cutis marmorata	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040282 - Frequent	162
HP:0000965	HP:0000965	Cutis marmorata	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0000965	HP:0000965	Cutis marmorata	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0000965	HP:0000965	Cutis marmorata	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	41
HP:0000965	HP:0000965	Cutis marmorata	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0000965	HP:0000965	Cutis marmorata	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0000965	HP:0000965	Cutis marmorata	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0000965	HP:0000965	Cutis marmorata	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	HP:0040283 - Occasional	25
HP:0000965	HP:0000965	Cutis marmorata	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	3
HP:0000965	HP:0000965	Cutis marmorata	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0000965	HP:0000965	Cutis marmorata	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0000965	HP:0000965	Cutis marmorata	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0000965	HP:0000965	Cutis marmorata	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0000965	HP:0000965	Cutis marmorata	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0000965	HP:0000965	Cutis marmorata	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0000965	HP:0000965	Cutis marmorata	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0000965	HP:0000965	Cutis marmorata	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	7
HP:0000965	HP:0000965	Cutis marmorata	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	260
HP:0000965	HP:0000965	Cutis marmorata	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	504
HP:0000965	HP:0000965	Cutis marmorata	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0000965	HP:0000965	Cutis marmorata	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.	135
HP:0000965	HP:0000965	Cutis marmorata	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0000965	HP:0000965	Cutis marmorata	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000965	HP:0000965	Cutis marmorata	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040282 - Frequent	7
HP:0000965	HP:0000965	Cutis marmorata	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional	9
HP:0000965	HP:0000965	Cutis marmorata	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0000965	HP:0000965	Cutis marmorata	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	162
HP:0000965	HP:0000965	Cutis marmorata	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	85
HP:0000965	HP:0000965	Cutis marmorata	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	239
HP:0000965	HP:0000965	Cutis marmorata	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	253
HP:0000965	HP:0000965	Cutis marmorata	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56

Genes (71) :ABCC9 ABL1 ACTA2 ADA2 ADAR AGXT AKT3 ARHGAP31 ARID1B ARL6IP6 BRD4 CAV1 CBS DDX11 DHCR7 DLL4 DOCK6 ELN EOGT FBN1 FOXE3 FTO GNA11 GUCY1A1 H4C3 HDAC8 HEATR3 HEY2 IFIH1 LARP7 LIG4 LOX LSM11 MAT2A MFAP5 MYD88 MYH11 MYLK NFIA NFIX NIPBL NOTCH1 NSUN2 PDSS1 PIK3CA POLA1 PRKG1 PTDSS1 PTEN RAD21 RBPJ RNASEH2A RNASEH2B RNASEH2C RNF113A RNU7-1 RPS6KA3 SAMHD1 SMAD2 SMAD3 SMAD4 SMC1A SMC3 SOX18 STAG1 STING1 TGFB2 TGFB3 TGFBR1 TGFBR2 TREX1

Diseases (49) :OMIM:619719 OMIM:617602 ORPHA:91387 OMIM:182410 ORPHA:820 OMIM:615688 ORPHA:51 OMIM:259900 OMIM:615937 ORPHA:974 OMIM:100300 OMIM:135900 ORPHA:1556 ORPHA:199 OMIM:606721 OMIM:236200 OMIM:613398 ORPHA:818 OMIM:616589 OMIM:614219 OMIM:615297 OMIM:612938 OMIM:615750 ORPHA:401945 OMIM:619758 OMIM:300882 OMIM:620072 ORPHA:319671 ORPHA:235 ORPHA:33226 ORPHA:229 ORPHA:401986 OMIM:613735 OMIM:614753 OMIM:122470 OMIM:614651 ORPHA:60040 OMIM:602501 OMIM:301220 OMIM:151050 ORPHA:109 OMIM:614701 OMIM:300953 OMIM:303600 OMIM:300590 OMIM:610759 ORPHA:69735 ORPHA:502434 OMIM:615934

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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