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:
Abnormality of skin morphology (HP:0011121)

Parent Node:
Abnormal epidermal morphology (HP:0011124)

..Starting node
..Scaling skin (HP:0040189)

Term ID:

40189

Name:

Scaling skin

Synonym:

Desquamation; flaking skin; peeling skin; Scaling skin; Scaly skin

Definition:

Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.

Comments:

Reference:

HP:0040189

Genes and Diseases:

Child Nodes:

........

Palmoplantar scaling skin (HP:0025524)

........

Scaling skin on fingertip (HP:0025525)

........

Psoriasiform lesion (HP:0025526)

........

White scaling skin (HP:0040190)

Sister Nodes:

Acantholysis (HP:0100792)

Civatte bodies (HP:0025115)

Epidermal acanthosis (HP:0025092)

Rete ridge flattening (HP:0025117)

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:0040189	HP:0040189	Scaling skin	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0040189	HP:0040189	Scaling skin	0	CARD14 CL E G H	79092	16446	OMIM:602723	PSORIASIS 2; PSORS2		33
HP:0040189	HP:0040189	Scaling skin	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0040189	HP:0040189	Scaling skin	0	CASP14 CL E G H	23581	1502	OMIM:617320	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12		1
HP:0040189	HP:0040189	Scaling skin	0	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	.	4
HP:0040189	HP:0040189	Scaling skin	0	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0040189	HP:0040189	Scaling skin	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1	.	7
HP:0040189	HP:0040189	Scaling skin	0	CHST8 CL E G H	64377	15993	OMIM:616265	Peeling skin syndrome 3		1
HP:0040189	HP:0040189	Scaling skin	0	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome	HP:0040282 - Frequent	4
HP:0040189	HP:0040189	Scaling skin	0	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4	.	4
HP:0040189	HP:0040189	Scaling skin	0	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5		54
HP:0040189	HP:0040189	Scaling skin	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040283 - Occasional	87
HP:0040189	HP:0040189	Scaling skin	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0040189	HP:0040189	Scaling skin	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0040189	HP:0040189	Scaling skin	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0040189	HP:0040189	Scaling skin	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.	62
HP:0040189	HP:0040189	Scaling skin	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0040189	HP:0040189	Scaling skin	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0040189	HP:0040189	Scaling skin	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0040189	HP:0040189	Scaling skin	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0040189	HP:0040189	Scaling skin	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0040189	HP:0040189	Scaling skin	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0040189	HP:0040189	Scaling skin	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0040189	HP:0040189	Scaling skin	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0040189	HP:0040189	Scaling skin	0	KRT1 CL E G H	3848	6412	OMIM:113800	Epidermolytic hyperkeratosis	.	100
HP:0040189	HP:0040189	Scaling skin	0	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040283 - Occasional	100
HP:0040189	HP:0040189	Scaling skin	0	KRT10 CL E G H	3858	6413	OMIM:113800	Epidermolytic hyperkeratosis	.	45
HP:0040189	HP:0040189	Scaling skin	0	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular		45
HP:0040189	HP:0040189	Scaling skin	0	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0040189	HP:0040189	Scaling skin	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040282 - Frequent	35
HP:0040189	HP:0040189	Scaling skin	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0040189	HP:0040189	Scaling skin	0	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0040189	HP:0040189	Scaling skin	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0040189	HP:0040189	Scaling skin	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0040189	HP:0040189	Scaling skin	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	.	32
HP:0040189	HP:0040189	Scaling skin	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0040189	HP:0040189	Scaling skin	0	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6		60
HP:0040189	HP:0040189	Scaling skin	0	OSMR CL E G H	9180	8507	OMIM:105250	Amyloidosis, primary localized cutaneous, 1	.	5
HP:0040189	HP:0040189	Scaling skin	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040282 - Frequent	107
HP:0040189	HP:0040189	Scaling skin	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0040189	HP:0040189	Scaling skin	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0040189	HP:0040189	Scaling skin	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional	88
HP:0040189	HP:0040189	Scaling skin	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0040189	HP:0040189	Scaling skin	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	.	55
HP:0040189	HP:0040189	Scaling skin	0	SULT2B1 CL E G H	6820	11459	OMIM:617571	Ichthyosis, congenital, autosomal recessive 14	.	4
HP:0040189	HP:0040189	Scaling skin	0	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby		98
HP:0040189	HP:0040189	Scaling skin	0	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis	HP:0040281 - Very frequent	98
HP:0040189	HP:0040189	Scaling skin	0	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome	HP:0040282 - Frequent	44
HP:0040189	HP:0040189	Scaling skin	0	TGM5 CL E G H	9333	11781	OMIM:609796	Peeling skin syndrome, Acral type	.	44
HP:0040189	HP:0040189	Scaling skin	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0040189	HP:0040189	Scaling skin	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0040189	HP:0025526	Psoriasiform lesion	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0040189	HP:0040190	White scaling skin	1	CASP14 CL E G H	23581	1502	OMIM:617320	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12		1
HP:0040189	HP:0040190	White scaling skin	1	CHST8 CL E G H	64377	15993	OMIM:616265	Peeling skin syndrome 3	.	1
HP:0040189	HP:0040190	White scaling skin	1	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5		54
HP:0040189	HP:0025524	Palmoplantar scaling skin	1	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0040189	HP:0025526	Psoriasiform lesion	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0040189	HP:0025524	Palmoplantar scaling skin	1	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040283 - Occasional	100
HP:0040189	HP:0025526	Psoriasiform lesion	1	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040282 - Frequent	35
HP:0040189	HP:0025525	Scaling skin on fingertip	1	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0040189	HP:0025526	Psoriasiform lesion	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0040189	HP:0025524	Palmoplantar scaling skin	1	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby	HP:0040281 - Very frequent	98

Genes (42) :ADAM17 CARD14 CARMIL2 CASP14 CAST CDSN CHST8 CSTA CYP4F22 DCAF17 DSP EBP EGFR ELOVL4 GJA1 GJB2 GJB6 GNB2 IL2RA IL7R KIF11 KIT KRT1 KRT10 KRT74 LDHA LMNA LORICRIN LRBA MBTPS2 MPDU1 NIPAL4 OSMR PKP1 PPP2R3C RASA1 RNF168 SAMHD1 SULT2B1 TGM1 TGM5 ZMPSTE24

Diseases (45) :ORPHA:294023 OMIM:602723 OMIM:618131 OMIM:617320 OMIM:616295 ORPHA:90368 OMIM:270300 OMIM:616265 ORPHA:263534 OMIM:607936 OMIM:604777 ORPHA:3464 OMIM:607655 ORPHA:35173 OMIM:614457 ORPHA:1010 ORPHA:477 OMIM:619503 OMIM:606367 ORPHA:169154 ORPHA:2526 ORPHA:79455 OMIM:113800 ORPHA:530838 OMIM:609165 ORPHA:284426 ORPHA:1662 ORPHA:79395 OMIM:614700 OMIM:308205 OMIM:609180 ORPHA:79323 OMIM:612281 OMIM:105250 ORPHA:158668 OMIM:604536 OMIM:618419 ORPHA:90307 ORPHA:420741 OMIM:612952 OMIM:617571 ORPHA:281127 ORPHA:100976 OMIM:609796 OMIM:275210

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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