MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Neutropenia (D009503)
Parent Node:
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Skin Abnormalities (D012868)
..Starting node
..expand
Poikiloderma with Neutropenia (C565820)

       Child Nodes:



 Sister Nodes: 
..expandAcrodermatitis (D000169) Child1
..expandAnetoderma (D057088) Child2
..expandArthropathy, Erosive (C565273)
..expandAUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
..expandBarber Say syndrome (C537908)
..expandBlepharophimosis syndrome type 1 (C536233)
..expandBlepharophimosis syndrome type 2 (C536234)
..expandBlepharophimosis with ptosis, syndactyly, and short stature (C536235)
..expandBlepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
..expandBook Syndrome (C562993)
..expandBrittle cornea syndrome 1 (C536192)
..expandC1q DEFICIENCY (OMIM:613652)
..expandCarney Complex (D056733) Child1
..expandCOCOON SYNDROME (OMIM:613630)
..expandComedones, Familial Dyskeratotic (C562838)
..expandCutis Gyrata Syndrome of Beare And Stevenson (C565129)
..expandDermal Ridges, Nelson Syndrome (C565110)
..expandDermal Ridges, Patternless (C565109)
..expandDermoodontodysplasia (C565103)
..expandDyskeratosis Congenita (D019871) Child3
..expandDyskeratosis, Hereditary Benign Intraepithelial (C562551)
..expandEctodermal Dysplasia (D004476) Child144  LSDB C:1
..expandEhlers-Danlos Syndrome (D004535) Child23
..expandEpidermolysis Bullosa (D004820) Child29
..expandEpithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
..expandFamilial popliteal pterygium syndrome (C535891)
..expandHairy palms and soles (C535620)
..expandHemangiomatosis, Cutaneous, with Associated Features (C562438)
..expandHyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations (C566153)
..expandHypohidrosis with Abnormal Palmar Dermal Ridges (C565481)
..expandIchthyosis (D007057) Child66
..expandIchthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..expandIncontinentia Pigmenti (D007184) Child2
..expandKeratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..expandKOSAKI OVERGROWTH SYNDROME (OMIM:616592)
..expandLINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 (OMIM:300952)
..expandMichelin tire baby syndrome (C537575)
..expandMicrophthalmia, syndromic 7 (C537466)
..expandMultiple pterygium syndrome (C537377) Child1
..expandOculocerebrocutaneous syndrome (C538088)
..expandPoikiloderma with Neutropenia (C565820)
..expandPoikiloderma, Hereditary Sclerosing (C562824)
..expandPort-Wine Stain (D019339) Child4
..expandProlidase Deficiency (D056732)
..expandPseudoxanthoma Elasticum (D011561) Child2
..expandPterygium Colli, Isolated (C566741)
..expandRidges-off-the-end syndrome (C531754)
..expandRothmund-Thomson Syndrome (D011038) Child5
..expandSclerema Neonatorum (D012593)
..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)
..expandTight skin contracture syndrome, lethal (C536920)
..expandTrichothiodystrophy Syndromes (D054463) Child5
..expandUrban Schosser Spohn syndrome (C536476)
..expandVascular Hyalinosis (C564750)
..expandWinter Shortland Temple syndrome (C536735)
..expandXeroderma Pigmentosum (D014983) Child16
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9972
Name:Poikiloderma with Neutropenia
Definition:
Alternative IDs:DO:DOID:0060551|OMIM:604173
ParentIDs:MESH:D009503|MESH:D012868
TreeNumbers:C15.378.553.546.184.564/C565820 |C16.131.831/C565820 |C17.800.804/C565820
Synonyms:PN |Poikiloderma with Neutropenia, Clericuzio-Type
Slim Mappings:Blood disease|Congenital abnormality|Skin disease
Reference: MedGen: C565820
MeSH: C565820
OMIM: 604173;
MSeqDR LSDB:  
Genes: USB1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000498Blepharitis
3 HP:0000509Conjunctivitis
4 HP:0000316HypertelorismHP:0040283
5 HP:0000272Malar flatteningHP:0040283
6 HP:0011800Midface retrusionHP:0040283
7 HP:0001875Neutropenia
8 HP:0001029Poikiloderma
9 HP:0000403Recurrent otitis media
10 HP:0006532Recurrent pneumonia
11 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
12 HP:0001744Splenomegaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_024598.4(USB1):c.176_177del (p.Gly59fs)79650USB1Pathogenicrs759761915RCV000598852; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165803645858036459AGGA16:g.58036458_58036459delClinGen:CA8084824C1858723 604173 Poikiloderma with neutropenia;
NM_024598.4(USB1):c.179del (p.Pro60fs)79650USB1Pathogenicrs786205051RCV000000227; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165803646258036462GCG16:g.58036462_58036462delClinGen:CA212725,OMIM:613276.0004
NM_024598.4(USB1):c.209G>A (p.Arg70Gln)79650USB1Uncertain significancers767016894RCV001312296|RCV001334209; NMedGen:CN517202|MONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165803649358036493GA58036493-
NM_024598.4(USB1):c.232C>T (p.Arg78Ter)79650USB1Pathogenicrs374559185RCV000599089; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165803651658036516CT16:g.58036516C>TClinGen:CA396128862C1858723 604173 Poikiloderma with neutropenia;
NM_024598.4(USB1):c.243G>A (p.Trp81Ter)79650USB1Pathogenicrs137853973RCV000144431; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165803652758036527GA16:g.58036527G>AOMIM:613276.0005,ClinGen:CA170841
NM_024598.4(USB1):c.253G>A (p.Val85Ile)79650USB1Uncertain significancers764580227RCV001329352|RCV001751640; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046|MedGen:CN517202165803653758036537GA58036537-
NM_024598.4(USB1):c.258T>A (p.Tyr86Ter)79650USB1Pathogenicrs199820065RCV000599587; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165803654258036542TA16:g.58036542T>AClinGen:CA396128917
NM_024598.4(USB1):c.265+2T>G79650USB1Pathogenicrs1555497680RCV000598920; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165803655158036551TG16:g.58036551T>GClinGen:CA396128936C1858723 604173 Poikiloderma with neutropenia;
NM_024598.4(USB1):c.266-1G>A79650USB1Pathogenicrs1555498092RCV000599282|RCV001384478; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046|MedGen:CN517202165804383258043832GA16:g.58043832G>AClinGen:CA396128940,OMIM:613276.0008
NM_024598.4(USB1):c.267T>A (p.Tyr89Ter)79650USB1Pathogenicrs771096742RCV000599513; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165804383458043834TA16:g.58043834T>AClinGen:CA396128946C1858723 604173 Poikiloderma with neutropenia;
NM_024598.4(USB1):c.334dup (p.Arg112fs)79650USB1Pathogenicrs1555498117RCV000598944; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165804389658043897TTC16:g.58043896_58043897insCClinGen:CA658798609C1858723 604173 Poikiloderma with neutropenia;
NM_024598.4(USB1):c.345del (p.Arg115_Met116insTer)79650USB1Likely pathogenicrs1555498120RCV000677661; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165804391158043911AGA16:g.58043911_58043911del-C1858723 604173 Poikiloderma with neutropenia;
NM_024598.4(USB1):c.370T>C (p.Ser124Pro)79650USB1Likely pathogenicrs1597049287RCV000985173; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165804393758043937TC16:g.58043937T>C-
NM_024598.4(USB1):c.415C>T (p.Gln139Ter)79650USB1Pathogenicrs1555498129RCV000599306; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165804398258043982CT16:g.58043982C>TClinGen:CA396129268C1858723 604173 Poikiloderma with neutropenia;
NM_024598.4(USB1):c.450-2A>G79650USB1Pathogenicrs1555498396RCV000598598; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165804817558048175AG16:g.58048175A>GClinGen:CA396129707
NM_024598.4(USB1):c.489_492del (p.Asn163fs)79650USB1Pathogenicrs777667891RCV000598593; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165804821358048216CCAATC16:g.58048213_58048216delClinGen:CA8084946,OMIM:613276.0007C1858723 604173 Poikiloderma with neutropenia;
NM_024598.4(USB1):c.499del (p.Thr167fs)79650USB1Pathogenicrs1555498399RCV000598668; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165804822358048223GAG16:g.58048223_58048223delClinGen:CA658798610,OMIM:613276.0006
NM_024598.4(USB1):c.502A>G (p.Arg168Gly)79650USB1Pathogenicrs137853971RCV000000226; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165804822958048229AG16:g.58048229A>GClinGen:CA114044,OMIM:613276.0003C1858723 604173 Poikiloderma with neutropenia;
NM_024598.4(USB1):c.504-2A>C79650USB1Pathogenicrs137853970RCV000000224; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165805123658051236AC16:g.58051236A>CClinGen:CA114042,OMIM:613276.0001C1858723 604173 Poikiloderma with neutropenia;
NM_024598.4(USB1):c.512T>C (p.Ile171Thr)79650USB1Conflicting interpretations of pathogenicityrs149725439RCV000966295|RCV001267806; NMedGen:CN517202|MONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165805124658051246TC16:g.58051246T>C-
NM_024598.4(USB1):c.518T>G (p.Leu173Arg)79650USB1Pathogenicrs1555498563RCV000598972; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165805125258051252TG16:g.58051252T>GClinGen:CA396129878C1858723 604173 Poikiloderma with neutropenia;
NM_024598.4(USB1):c.531del (p.His179fs)79650USB1Pathogenicrs1555498565RCV000598696; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165805126558051265CAC16:g.58051265_58051265delClinGen:CA658798611,OMIM:613276.0010C1858723 604173 Poikiloderma with neutropenia;
NM_024598.4(USB1):c.541C>T (p.Gln181Ter)79650USB1Pathogenicrs1555498573RCV000599164; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165805127558051275CT16:g.58051275C>TClinGen:CA396129923,OMIM:613276.0011C1858723 604173 Poikiloderma with neutropenia;
NM_024598.4(USB1):c.609+1G>A79650USB1Pathogenicrs1555498581RCV000599299; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165805134458051344GA16:g.58051344G>AClinGen:CA396130077
NM_024598.4(USB1):c.623A>G (p.His208Arg)79650USB1Pathogenicrs1249059283RCV000599396; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165805288958052889AG16:g.58052889A>GClinGen:CA396130121
NM_024598.4(USB1):c.641G>A (p.Cys214Tyr)79650USB1Conflicting interpretations of pathogenicityrs146685901RCV000768128|RCV000970569; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046|MedGen:CN517202165805290758052907GA16:g.58052907G>A-
NM_024598.4(USB1):c.673C>T (p.Gln225Ter)79650USB1Pathogenicrs1459714680RCV000598691; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165805293958052939CT16:g.58052939C>TClinGen:CA396130225
NM_024598.4(USB1):c.683_693+1del79650USB1Pathogenicrs137853972RCV000000225; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165805294958052960CAGGAACTACAGGC16:g.58052949_58052960delClinGen:CA114043,OMIM:613276.0002C1858723 604173 Poikiloderma with neutropenia;
NM_024598.4(USB1):c.693+1G>T79650USB1Pathogenicrs1292827495RCV000599560; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165805296058052960GT16:g.58052960G>TClinGen:CA396130274
NM_024598.4(USB1):c.784A>G (p.Met262Val)79650USB1Uncertain significancers143382202RCV001201457|RCV001267807; NMedGen:CN517202|MONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165805413558054135AG16:g.58054135A>G-
NM_024598.4(USB1):c.796T>G (p.Ter266Gly)79650USB1Uncertain significancers1963706554RCV001334210; NMONDO:MONDO:0011405,MedGen:C1858723,OMIM:604173, Orphanet:221046165805414758054147TG58054147-
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