Human Phenotype Ontology

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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:
Localized skin lesion (HP:0011355)

Parent Node:
Cafe-au-lait spot (HP:0000957)

..Starting node
..Multiple cafe-au-lait spots (HP:0007565)

Term ID:

7565

Name:

Multiple cafe-au-lait spots

Synonym:

Multiple birthmarks; Multiple flat light-brown marks on skin

Definition:

The presence of six or more cafe-au-lait spots.

Comments:

Reference:

HP:0007565

Genes and Diseases:

Child Nodes:

Sister Nodes:

Few cafe-au-lait spots (HP:0007429)

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:0007565	HP:0007565	Multiple cafe-au-lait spots	0	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria	HP:0040282 - Frequent	20
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	54
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	54
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	1
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040283 - Occasional	3267
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	16
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional	81
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040284 - Very rare	93
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	178
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040281 - Very frequent	1952
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	1952
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome	.	1952
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent	531
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	162
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	948
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	948
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional	3
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	237
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	147
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	129
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	60
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent	10
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent	4
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040284 - Very rare	140
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040283 - Occasional	7
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0007565	HP:0007565	Multiple cafe-au-lait spots	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125

Genes (64) :ABCB6 AKT1 ARL6IP6 ATM BRAF BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 CEP57 CIB1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM GNA11 IL7 KDM5C KLLN KRAS MAD2L2 MAN1B1 MAP2K1 MAP2K2 MLH1 MSH2 MSH6 NF1 PALB2 PCNT PDE11A PIK3CA PLXND1 PMS2 PRKAR1A PTEN RAD51 RAD51C RERE REV3L RFWD3 SDHB SDHC SDHD SEC23B SLX4 SPRED1 TMC6 TMC8 TP63 TRIP13 TWIST2 UBE2T USF3 XRCC2

Diseases (30) :ORPHA:241 ORPHA:201 ORPHA:744 ORPHA:1556 ORPHA:100 ORPHA:1340 ORPHA:84 OMIM:609054 ORPHA:1052 ORPHA:302 OMIM:614082 ORPHA:85279 ORPHA:397941 ORPHA:638 OMIM:276300 OMIM:619096 OMIM:619097 ORPHA:97685 OMIM:162200 OMIM:601321 OMIM:193520 ORPHA:2637 ORPHA:1359 ORPHA:570 OMIM:619101 ORPHA:109 OMIM:616975 ORPHA:137605 ORPHA:69085 ORPHA:1807

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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