MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Anodontia (D000848)
Parent Node:
expand
Ectodermal Dysplasia (D004476)
Parent Node:
expand
Lacrimal Duct Obstruction (D007767)
Parent Node:
expand
Limb Deformities, Congenital (D017880)
Parent Node:
expand
Nails, Malformed (D009264)
Parent Node:
expand
Pigmentation Disorders (D010859)
..Starting node
..expand
Propping Zerres syndrome (C538052)

       Child Nodes:



 Sister Nodes: 
..expandAcroleukopathy, Symmetric (C566322)
..expandAnonychia with Flexural Pigmentation (C566278)
..expandArgyria (D001129)
..expandBADS Syndrome (C562663)
..expandBasaran Yilmaz syndrome (C537660)
..expandBullous Dystrophy, Hereditary Macular Type (C563065)
..expandCafe-au-Lait Spots (D019080) Child4
..expandDyschromatosis symmetrica hereditaria 1 (C535729)
..expandDyschromatosis universalis hereditaria (C535730)
..expandDyschromatosis Universalis Hereditaria 1 (C567273)
..expandDyschromatosis Universalis Hereditaria 2 (C567194)
..expandDYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
..expandElejalde Disease (C536203)
..expandFLOTCH syndrome (C537065)
..expandGraying of Hair, Precocious (C564209)
..expandGriscelli syndrome type 1 (C537301)
..expandGriscelli syndrome type 3 (C537303)
..expandGrouped Pigmentation of the Macula (C565530)
..expandHeterochromia iridis (C538115)
..expandHyperpigmentation (D017495) Child30
..expandHypopigmentation (D017496) Child49
..expandIncontinentia Pigmenti (D007184) Child2
..expandLeukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..expandMacules hereditary congenital hypopigmented and hyperpigmented (C537836)
..expandOculocerebral hypopigmentation syndrome type Preus (C537866)
..expandPigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..expandPigmented purpuric eruption (C537186)
..expandPropping Zerres syndrome (C538052)
..expandRed skin pigment anomaly of New Guinea (C535515)
..expandRussell-Silver Syndrome, X-Linked (C562446)
..expandSkin-Hair-Eye Pigmentation, Variation In, 10 (C567376)
..expandSkin-Hair-Eye Pigmentation, Variation In, 11 (C567374)
..expandSkin-Hair-Eye Pigmentation, Variation In, 4 (C567300)
..expandSkin-Hair-Eye Pigmentation, Variation In, 5 (C567119)
..expandSkin-Hair-Eye Pigmentation, Variation In, 6 (C567139)
..expandSkin-Hair-Eye Pigmentation, Variation In, 7 (C567155)
..expandSkin-Hair-Eye Pigmentation, Variation In, 8 (C567096)
..expandSkin-Hair-Eye Pigmentation, Variation In, 9 (C567091)
..expandSpastic paraplegia 23 (C536859)
..expandTang Hsi Ryu syndrome (C536897)
..expandTERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..expandTerminal Osseous Dysplasia and Pigmentary Defects (C564554)
..expandThumb deformity, alopecia, pigmentation anomaly (C536904)
..expandUrticaria Pigmentosa (D014582)
..expandWAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..expandWhite forelock with malformations (C536700)
..expandWhyte Murphy syndrome (C536054)
..expandXeroderma Pigmentosum (D014983) Child16
..expandYellow Nail Syndrome (D056684) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10287
Name:Propping Zerres syndrome
Definition:
Alternative IDs:OMIM:103285
ParentIDs:MESH:D000848|MESH:D004476|MESH:D007767|MESH:D009264|MESH:D010859|MESH:D017880
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:Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Pathology (anatomical condition)|Pathology (process)|Skin disease
Reference: MedGen: C538052
MeSH: C538052
OMIM: 103285;
MSeqDR LSDB:  
Genes: DSP; TP63;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002561Absent nipple
3 HP:0007455Adermatoglyphia
4 HP:0002293Alopecia of scalp
5 HP:0003187Breast hypoplasia
6 HP:0000509Conjunctivitis
7 HP:0000992Cutaneous photosensitivity
8 HP:0004334Dermal atrophy
9 HP:0000958Dry skin
10 HP:0000968Ectodermal dysplasia
11 HP:0000964Eczema
12 HP:0002286Fair hair
13 HP:0001480Freckling
14 HP:0000668Hypodontia
15 HP:0002557Hypoplastic nipples
16 HP:0000691Microdontia
17 HP:0001803Nail pits
18 HP:0000579Nasolacrimal duct obstruction
19 HP:0000677Oligodontia
20 HP:0000202Oral cleft
21 HP:0006357Premature loss of permanent teeth
22 HP:0002215Sparse axillary hair
23 HP:0002209Sparse scalp hair
24 HP:0001839Split foot
25 HP:0001171Split hand
26 HP:0000963Thin skin
27 HP:0001770Toe syndactyly
28 HP:0006610Wide intermamillary distance
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_003722.5(TP63):c.325-18456A>C8626TP63Pathogenicrs113993963RCV000006911; NMONDO:MONDO:0007072,MedGen:C1863204,OMIM:103285, Orphanet:9783189507605189507605AC3:g.189507605A>CClinGen:CA340597,OMIM:603273.0011C1863204 103285 ADULT syndrome;
NM_003722.5(TP63):c.797G>A (p.Arg266Gln)8626TP63Pathogenicrs121908849RCV000006926|RCV000006925|RCV000413620|RCV001390108; NMONDO:MONDO:0007072,MedGen:C1863204,OMIM:103285, Orphanet:978|MONDO:MONDO:0011428,MedGen:C1858562,OMIM:604292, Orphanet:1896|MedGen:CN517202|MedGen:CN2393053189584501189584501GA3:g.189584501G>AOMIM:603273.0024,ClinGen:CA118348,UniProtKB:Q9H3D4#VAR_032738C1863204 103285 ADULT syndrome;
NM_003722.5(TP63):c.1009C>G (p.Arg337Gly)8626TP63Pathogenicrs113993966RCV000006923|RCV001280741; NMONDO:MONDO:0007072,MedGen:C1863204,OMIM:103285, Orphanet:978|MedGen:CN5172023189586385189586385CG3:g.189586385C>GClinGen:CA340600,OMIM:603273.0022C1863204 103285 ADULT syndrome;
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln)8626TP63Pathogenicrs113993967RCV000006914|RCV000794231|RCV001781195; NMONDO:MONDO:0007072,MedGen:C1863204,OMIM:103285, Orphanet:978|MedGen:CN239305|MedGen:CN5172023189586386189586386GA3:g.189586386G>AClinGen:CA340599,UniProtKB:Q9H3D4#VAR_020875,OMIM:603273.0014
NM_003722.5(TP63):c.1350-5670A>G8626TP63Uncertain significance-1RCV001769960; NMONDO:MONDO:0007072,MedGen:C1863204,OMIM:103285, Orphanet:9783189598513189598513AG189598513-
MSeqDR Portal