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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

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: Neutropenia (D009503)
Parent Node: Skin Abnormalities (D012868)
..Starting node ..Poikiloderma with Neutropenia (C565820)
Child Nodes:
Sister Nodes:
..Acrodermatitis (D000169) 1
..Anetoderma (D057088) 2
..Arthropathy, Erosive (C565273)
..Barber Say syndrome (C537908)
..Blepharophimosis syndrome type 1 (C536233)
..Blepharophimosis syndrome type 2 (C536234)
..Blepharophimosis with ptosis, syndactyly, and short stature (C536235)
..Blepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
..Book Syndrome (C562993)
..Carney Complex (D056733) 1
..COCOON SYNDROME (OMIM:613630)
..Comedones, Familial Dyskeratotic (C562838)
..Cutis Gyrata Syndrome of Beare And Stevenson (C565129)
..Dermal Ridges, Nelson Syndrome (C565110)
..Dermal Ridges, Patternless (C565109)
..Dermoodontodysplasia (C565103)
..Dyskeratosis Congenita (D019871) 3
..Dyskeratosis, Hereditary Benign Intraepithelial (C562551)
..Ectodermal Dysplasia (D004476) 144
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
..Familial popliteal pterygium syndrome (C535891)
..Hairy palms and soles (C535620)
..Hemangiomatosis, Cutaneous, with Associated Features (C562438)
..Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations (C566153)
..Hypohidrosis aith Abnormal Palmar Dermal Ridges (C565481)
..Ichthyosis (D007057) 66
..Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..Incontinentia Pigmenti (D007184) 2
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Michelin tire baby syndrome (C537575)
..Microphthalmia, syndromic 7 (C537466)
..Multiple pterygium syndrome (C537377) 1
..Oculocerebrocutaneous syndrome (C538088)
..Poikiloderma with Neutropenia (C565820)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Port-Wine Stain (D019339) 4
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Pterygium Colli, Isolated (C566741)
..Ridges-off-the-end syndrome (C531754)
..Rothmund-Thomson Syndrome (D011038) 5
..Sclerema Neonatorum (D012593)
..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)
..Tight skin contracture syndrome, lethal (C536920)
..Trichothiodystrophy Syndromes (D054463) 5
..Urban Schosser Spohn syndrome (C536476)
..Vascular Hyalinosis (C564750)
..Winter Shortland Temple syndrome (C536735)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9047

Name:

Poikiloderma with Neutropenia

Definition:

Alternative IDs:

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;

Genes: USB1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000498	Blepharitis
3	HP:0000509	Conjunctivitis
4	HP:0000316	Hypertelorism	HP:0040283
5	HP:0000272	Malar flattening	HP:0040283
6	HP:0011800	Midface retrusion	HP:0040283
7	HP:0001875	Neutropenia
8	HP:0001029	Poikiloderma
9	HP:0000403	Recurrent otitis media
10	HP:0006532	Recurrent pneumonia
11	HP:0004322	Short stature
12	HP:0001744	Splenomegaly

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_024598.3(USB1):c.179delC (p.Pro60Leufs)	79650	USB1	Pathogenic	786205051	RCV000000227;	N	MedGen:C1858723,OMIM:604173,ORPHA:221046	16	58036463	58036463	NM_024598.3:c.179delC	NP_078874.2:p.Pro60Leufs	NC_000016.9:g.58036463delC	OMIM Allelic Variant:613276.0004	C1858723 604173 Poikiloderma with neutropenia
NM_024598.3(USB1):c.243G>A (p.Trp81Ter)	79650	USB1	not provided	137853973	RCV000144431;	N	MedGen:C1858723,OMIM:604173,ORPHA:221046	16	58036527	58036527	NM_024598.3:c.243G>A	NP_078874.2:p.Trp81Ter	NC_000016.9:g.58036527G>A	-	C1858723 604173 Poikiloderma with neutropenia
NM_024598.3(USB1):c.502A>G (p.Arg168Gly)	79650	USB1	Pathogenic	137853971	RCV000000226;	N	MedGen:C1858723,OMIM:604173,ORPHA:221046	16	58048229	58048229	NM_024598.3:c.502A>G	NP_078874.2:p.Arg168Gly	NC_000016.9:g.58048229A>G	OMIM Allelic Variant:613276.0003	C1858723 604173 Poikiloderma with neutropenia
NM_024598.3(USB1):c.504-2A>C	79650	USB1	Pathogenic	137853970	RCV000000224;	N	MedGen:C1858723,OMIM:604173,ORPHA:221046	16	58051236	58051236	NM_024598.3:c.504-2A>C		NC_000016.9:g.58051236A>C	OMIM Allelic Variant:613276.0001	C1858723 604173 Poikiloderma with neutropenia
NM_001195302.1(USB1):c.629_639+1del12	79650	USB1	Pathogenic	137853972	RCV000000225;	N	MedGen:C1858723,OMIM:604173,ORPHA:221046	16	58052949	58052960	NM_001195302.1:c.629_639+1del12		NC_000016.9:g.58052949_58052960delAGGAACTACAGG	OMIM Allelic Variant:613276.0002	C1858723 604173 Poikiloderma with neutropenia