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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Anodontia (D000848)
Parent Node: Ectodermal Dysplasia (D004476)
Parent Node: Lacrimal Duct Obstruction (D007767)
Parent Node: Limb Deformities, Congenital (D017880)
Parent Node: Nails, Malformed (D009264)
Parent Node: Pigmentation Disorders (D010859)
..Starting node ..Propping Zerres syndrome (C538052)
Child Nodes:
Sister Nodes:
..Acroleukopathy, Symmetric (C566322)
..Anonychia with Flexural Pigmentation (C566278)
..Argyria (D001129)
..BADS Syndrome (C562663)
..Basaran Yilmaz syndrome (C537660)
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..Cafe-au-Lait Spots (D019080) 4
..Dyschromatosis symmetrica hereditaria 1 (C535729)
..Dyschromatosis universalis hereditaria (C535730)
..Dyschromatosis Universalis Hereditaria 1 (C567273)
..Dyschromatosis Universalis Hereditaria 2 (C567194)
..Elejalde Disease (C536203)
..FLOTCH syndrome (C537065)
..Graying of Hair, Precocious (C564209)
..Griscelli syndrome type 1 (C537301)
..Griscelli syndrome type 3 (C537303)
..Grouped Pigmentation of the Macula (C565530)
..Heterochromia iridis (C538115)
..Hyperpigmentation (D017495) 30
..Hypopigmentation (D017496) 49
..Incontinentia Pigmenti (D007184) 2
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Macules hereditary congenital hypopigmented and hyperpigmented (C537836)
..Oculocerebral hypopigmentation syndrome type Preus (C537866)
..Peeling skin syndrome, acral type (C536316)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Pigmented purpuric eruption (C537186)
..Propping Zerres syndrome (C538052)
..Red skin pigment anomaly of New Guinea (C535515)
..Russell-Silver Syndrome, X-Linked (C562446)
..Skin/Hair/Eye Pigmentation, Variation In, 10 (C567376)
..Skin/Hair/Eye Pigmentation, Variation In, 11 (C567374)
..Skin/Hair/Eye Pigmentation, Variation In, 4 (C567300)
..Skin/Hair/Eye Pigmentation, Variation In, 5 (C567119)
..Skin/Hair/Eye Pigmentation, Variation In, 6 (C567139)
..Skin/Hair/Eye Pigmentation, Variation In, 7 (C567155)
..Skin/Hair/Eye Pigmentation, Variation In, 8 (C567096)
..Skin/Hair/Eye Pigmentation, Variation In, 9 (C567091)
..Spastic paraplegia 23 (C536859)
..Tang Hsi Ryu syndrome (C536897)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Thumb deformity, alopecia, pigmentation anomaly (C536904)
..Urticaria Pigmentosa (D014582)
..WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..White forelock with malformations (C536700)
..Whyte Murphy syndrome (C536054)
..Xeroderma Pigmentosum (D014983) 16
..Yellow Nail Syndrome (D056684) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9338

Name:

Propping Zerres syndrome

Definition:

Alternative IDs:

OMIM:103285

ParentIDs:

TreeNumbers:

C05.660.585/C538052 |C07.650.800.100/C538052 |C07.793.700.100/C538052 |C11.496.456/C538052 |C16.131.077.350/C538052 |C16.131.621.585/C538052 |C16.131.831.350/C538052 |C16.131.850.800.100/C538052 |C16.320.850.250/C538052 |C17.800.621/C538052 |C17.800.804.350/C53805

Synonyms:

Acro-dermato-ungual-lacrimal-tooth syndrome |ADULT syndrome |Pigment anomaly ectrodactyly hypodontia

Slim Mappings:

Reference:

MedGen: C538052
MeSH: C538052
OMIM: 103285;

Genes: TP63;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002561	Absent nipple
3	HP:0007455	Adermatoglyphia
4	HP:0002293	Alopecia of scalp
5	HP:0003187	Breast hypoplasia
6	HP:0000509	Conjunctivitis
7	HP:0000992	Cutaneous photosensitivity
8	HP:0004334	Dermal atrophy
9	HP:0000958	Dry skin
10	HP:0000968	Ectodermal dysplasia
11	HP:0000964	Eczema
12	HP:0002286	Fair hair
13	HP:0001480	Freckling
14	HP:0000668	Hypodontia
15	HP:0002557	Hypoplastic nipples
16	HP:0000691	Microdontia
17	HP:0001803	Nail pits
18	HP:0000579	Nasolacrimal duct obstruction
19	HP:0000677	Oligodontia
20	HP:0000202	Oral cleft
21	HP:0006357	Premature loss of permanent teeth
22	HP:0002215	Sparse axillary hair
23	HP:0002209	Sparse scalp hair
24	HP:0001839	Split foot
25	HP:0001171	Split hand
26	HP:0000963	Thin skin
27	HP:0001770	Toe syndactyly
28	HP:0006610	Wide intermamillary distance

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001114982.1(TP63):c.16A>C (p.Asn6His)	8626	TP63	Pathogenic	113993963	RCV000006911;	N	MedGen:C1863204,OMIM:103285,ORPHA:978	3	189507605	189507605	NM_001114982.1:c.16A>C	NP_001108454.1:p.Asn6His	NC_000003.11:g.189507605A>C	OMIM Allelic Variant:603273.0011	C1863204 103285 ADULT syndrome
NM_003722.4(TP63):c.518G>A (p.Gly173Asp)	8626	TP63	Pathogenic	113993965	RCV000032229;	N	MedGen:C1863204,OMIM:103285,ORPHA:978	3	189526254	189526254	NM_003722.4:c.518G>A	NP_003713.3:p.Gly173Asp	NC_000003.11:g.189526254G>A	-	C1863204 103285 ADULT syndrome
NM_003722.4(TP63):c.797G>A (p.Arg266Gln)	8626	TP63	Pathogenic	121908849	RCV000006925; RCV000006926;	N	MedGen:C1858562,OMIM:604292; MedGen:C1863204,OMIM:103285,ORPHA:978	3	189584501	189584501	NM_003722.4:c.797G>A	NP_003713.3:p.Arg266Gln	NC_000003.11:g.189584501G>A	OMIM Allelic Variant:603273.0024	C1863204 103285 ADULT syndrome; C1858562 604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
NM_003722.4(TP63):c.1009C>G (p.Arg337Gly)	8626	TP63	Pathogenic	113993966	RCV000006923;	N	MedGen:C1863204,OMIM:103285,ORPHA:978	3	189586385	189586385	NM_003722.4:c.1009C>G	NP_003713.3:p.Arg337Gly	NC_000003.11:g.189586385C>G	OMIM Allelic Variant:603273.0022	C1863204 103285 ADULT syndrome
NM_003722.4(TP63):c.1010G>A (p.Arg337Gln)	8626	TP63	Pathogenic	113993967	RCV000006914;	N	MedGen:C1863204,OMIM:103285,ORPHA:978	3	189586386	189586386	NM_003722.4:c.1010G>A	NP_003713.3:p.Arg337Gln	NC_000003.11:g.189586386G>A	OMIM Allelic Variant:603273.0014	C1863204 103285 ADULT syndrome
NM_003722.4(TP63):c.1054A>G (p.Arg352Gly)	8626	TP63	Pathogenic	121908847	RCV000194064; RCV000006922;	N	MedGen:C1851878; MedGen:C1863204,OMIM:103285,ORPHA:978	3	189586430	189586430	NM_003722.4:c.1054A>G	NP_003713.3:p.Arg352Gly	NC_000003.11:g.189586430A>G	OMIM Allelic Variant:603273.0021	C1863204 103285 ADULT syndrome; C1851878 Orofacial cleft 8
NM_003722.4(TP63):c.1846delC (p.Leu616Serfs)	8626	TP63	Pathogenic	113993964	RCV000032228;	N	MedGen:C1863204,OMIM:103285,ORPHA:978	3	189612094	189612094	NM_003722.4:c.1846delC	NP_003713.3:p.Leu616Serfs	NC_000003.11:g.189612094delC	-	C1863204 103285 ADULT syndrome
NM_003722.4(TP63):c.1963delC (p.Arg655Glufs)	8626	TP63	Pathogenic	797044843	RCV000195096;	N	MedGen:C1863204,OMIM:103285,ORPHA:978	3	189612211	189612211	NM_003722.4:c.1963delC	NP_003713.3:p.Arg655Glufs	NC_000003.11:g.189612211delC	-	C1863204 103285 ADULT syndrome