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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: Abnormalities, Multiple (D000015)
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
Parent Node: Skin Abnormalities (D012868)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Prolidase Deficiency (D056732)
Child Nodes:
Sister Nodes:
..Actinic Prurigo (C566780)
..Albinism (D000417) 30
..Amyloidosis IX (C562643)
..Amyloidosis, Cutaneous Bullous (C562644)
..Amyloidosis, Primary Cutaneous (C562642)
..Annular Erythema (C562461)
..Arterial Tortuosity Syndrome (C565942)
..Atrophia Maculosa Varioliformis Cutis, Familial (C563349)
..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..Buschke-Ollendorff syndrome (C537415)
..Collagenosis, Familial Reactive Perforating (C565687)
..Cutis Laxa (D003483) 17
..Darier Disease (D007644) 7
..Dermatitis, Atopic (D003876) 9
..dowling-degos disease (C562924)
..Dyschromatosis universalis hereditaria (C535730)
..Dyschromatosis Universalis Hereditaria 1 (C567273)
..Dyschromatosis Universalis Hereditaria 2 (C567194)
..Dyskeratosis Congenita (D019871) 3
..Ectodermal Dysplasia (D004476) 144
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Erythrokeratodermia Variabilis (D056266) 3
..Erythrokeratodermia with ataxia (C535738)
..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..Fingerprints, Absence of (C565010)
..Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..Gerodermia osteodysplastica (C537799)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Histiocytic Dermatoarthritis (C564183)
..Hyalinosis, Systemic (D057770)
..Hyaluronan Metabolism, Defect in (C565742)
..Ichthyosiform Erythroderma, Congenital (D016113) 18
..Ichthyosis Bullosa of Siemens (D053560)
..Ichthyosis Vulgaris (D016112) 1
..Ichthyosis, X-Linked (D016114) 2
..Incontinentia Pigmenti (D007184) 2
..Juvenile Spring Eruption of Ears (C566781)
..Keratoderma, Palmoplantar (D007645) 45
..Keratolytic winter erythema (C536155)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Leukokeratosis, Hereditary Mucosal (D053529)
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Lipoid Proteinosis of Urbach and Wiethe (D008065)
..Monilethrix (D056734) 1
..Muir-Torre Syndrome (D055653)
..Netherton Syndrome (D056770)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Oculotrichodysplasia (C564934)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Orofaciodigital syndrome 9 (C557818)
..Osseous Heteroplasia, Progressive (C562735)
..Osteopoikilosis, Isolated (C563484)
..Parana Hard Skin Syndrome (C564905)
..Peeling Skin Syndrome (C564818)
..Pemphigus, Benign Familial (D016506)
..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Plasminogen Deficiency, Type I (C566897)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Porokeratosis (D017499) 7
..Porphyria, Erythropoietic (D017092)
..Porphyrias, Hepatic (D017094) 14
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Rothmund-Thomson Syndrome (D011038) 5
..Sjogren-Larsson Syndrome (D016111) 1
..Skin Fragility-Woolly Hair Syndrome (C564359)
..Stiff Skin Syndrome (C566112)
..Storm Syndrome (C566109)
..Trichothiodystrophy Syndromes (D054463) 5
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..Vohwinkel Syndrome, Variant Form (C565826)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9329

Name:

Prolidase Deficiency

Definition:

Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers, recurrent infections, and FACIES, often with INTELLECTUAL DISABILITY.

Alternative IDs:

OMIM:170100

ParentIDs:

MESH:D000015|MESH:D000592|MESH:D012868|MESH:D012873

TreeNumbers:

C16.131.077.735 |C16.131.831.720 |C16.320.565.100.794 |C16.320.850.746

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)

Reference:

MedGen: D056732
MeSH: D056732
OMIM: 170100;

Genes: PEPD;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001999	Abnormal facial shape
3	HP:0001939	Abnormality of metabolism/homeostasis
4	HP:0001903	Anemia
5	HP:0002099	Asthma
6	HP:0006528	Chronic lung disease
7	HP:0000444	Convex nasal ridge
8	HP:0007473	Crusting erythematous dermatitis
9	HP:0005280	Depressed nasal bridge
10	HP:0007489	Diffuse telangiectasia
11	HP:0001263	Global developmental delay
12	HP:0002240	Hepatomegaly
13	HP:0000316	Hypertelorism
14	HP:0002162	Low posterior hairline
15	HP:0000967	Petechiae
16	HP:0006579	Prolonged neonatal jaundice
17	HP:0011220	Prominent forehead
18	HP:0000520	Proptosis
19	HP:0000508	Ptosis
20	HP:0002719	Recurrent infections
21	HP:0006532	Recurrent pneumonia
22	HP:0003196	Short nose
23	HP:0001744	Splenomegaly
24	HP:0002725	Systemic lupus erythematosus
25	HP:0001873	Thrombocytopenia

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_000285.3(PEPD):c.1359_1361delGGA (p.Glu453del)	5184	PEPD	Pathogenic	757386104	RCV000000238;	N	MedGen:C0268532,OMIM:170100	19	33878371	33878373	NM_000285.3:c.1359_1361delGGA	NP_000276.2:p.Glu453del	NC_000019.9:g.33878371_33878373delTCC	OMIM Allelic Variant:613230.0006	C0268532 170100 Prolidase deficiency
NM_000285.3(PEPD):c.1153_1344del192 (p.Gly385_Gly448del)	5184	PEPD	Pathogenic	-1	RCV000000233;	N	MedGen:C0268532,OMIM:170100	19	33878749	33879530	NM_000285.3:c.1153_1344del192	NP_000276.2:p.Gly385_Gly448del		OMIM Allelic Variant:613230.0002,dbVar:nssv7487199,dbVar:nsv1197583	C0268532 170100 Prolidase deficiency
NM_000285.3(PEPD):c.1342G>A (p.Gly448Arg)	5184	PEPD	Pathogenic	121917724	RCV000000237;	N	MedGen:C0268532,OMIM:170100	19	33878798	33878798	NM_000285.3:c.1342G>A	NP_000276.2:p.Gly448Arg	NC_000019.9:g.33878798C>T	OMIM Allelic Variant:613230.0005	C0268532 170100 Prolidase deficiency
NM_000285.3(PEPD):c.1234G>A (p.Glu412Lys)	5184	PEPD	Pathogenic	267606944	RCV000000240;	N	MedGen:C0268532,OMIM:170100	19	33878906	33878906	NM_000285.3:c.1234G>A	NP_000276.2:p.Glu412Lys	NC_000019.9:g.33878906C>T	OMIM Allelic Variant:613230.0009	C0268532 170100 Prolidase deficiency
NM_000285.3(PEPD):c.1103T>G (p.Leu368Arg)	5184	PEPD	Pathogenic	797045185	RCV000194259;	N	MedGen:C0268532,OMIM:170100	19	33882250	33882250	NM_000285.3:c.1103T>G	NP_000276.2:p.Leu368Arg	NC_000019.9:g.33882250A>C	-	C0268532 170100 Prolidase deficiency
NM_000285.3(PEPD):c.833G>A (p.Gly278Asp)	5184	PEPD	Pathogenic	121917723	RCV000000236;	N	MedGen:C0268532,OMIM:170100	19	33892761	33892761	NM_000285.3:c.833G>A	NP_000276.2:p.Gly278Asp	NC_000019.9:g.33892761C>T	OMIM Allelic Variant:613230.0004	C0268532 170100 Prolidase deficiency
NM_000285.3(PEPD):c.826G>A (p.Asp276Asn)	5184	PEPD	Pathogenic	121917721	RCV000000232;	N	MedGen:C0268532,OMIM:170100	19	33892768	33892768	NM_000285.3:c.826G>A	NP_000276.2:p.Asp276Asn	NC_000019.9:g.33892768C>T	OMIM Allelic Variant:613230.0001	C0268532 170100 Prolidase deficiency
NM_000285.3(PEPD):c.793C>T (p.Arg265Ter)	5184	PEPD	Pathogenic	121917725	RCV000000239;	N	MedGen:C0268532,OMIM:170100	19	33902603	33902603	NM_000285.3:c.793C>T	NP_000276.2:p.Arg265Ter	NC_000019.9:g.33902603G>A	OMIM Allelic Variant:613230.0008	C0268532 170100 Prolidase deficiency
NM_000285.3(PEPD):c.691_693delTAC (p.Tyr231del)	5184	PEPD	Pathogenic	794728007	RCV000000234;	N	MedGen:C0268532,OMIM:170100	19	33904528	33904530	NM_000285.3:c.691_693delTAC	NP_000276.2:p.Tyr231del	NC_000019.9:g.33904528_33904530delGTA	OMIM Allelic Variant:613230.0007	C0268532 170100 Prolidase deficiency
NM_000285.3(PEPD):c.634G>C (p.Ala212Pro)	5184	PEPD	Pathogenic	747700126	RCV000195145;	N	MedGen:C0268532,OMIM:170100	19	33953938	33953938	NM_000285.3:c.634G>C	NP_000276.2:p.Ala212Pro	NC_000019.9:g.33953938C>G	-	C0268532 170100 Prolidase deficiency
NM_000285.3(PEPD):c.611_623dupAGGCCCACCGTGA (p.Val209Glyfs)	5184	PEPD	Pathogenic	794728008	RCV000000241;	N	MedGen:C0268532,OMIM:170100	19	33954894	33954906	NM_000285.3:c.611_623dupAGGCCCACCGTGA	NP_000276.2:p.Val209Glyfs	NC_000019.9:g.33954894_33954906dupTCACGGTGGGCCT	OMIM Allelic Variant:613230.0010	C0268532 170100 Prolidase deficiency
NM_000285.3(PEPD):c.605C>T (p.Ser202Phe)	5184	PEPD	Pathogenic	267606943	RCV000000242;	N	MedGen:C0268532,OMIM:170100	19	33954912	33954912	NM_000285.3:c.605C>T	NP_000276.2:p.Ser202Phe	NC_000019.9:g.33954912G>A	OMIM Allelic Variant:613230.0011	C0268532 170100 Prolidase deficiency
NM_000285.3(PEPD):c.551G>A (p.Arg184Gln)	5184	PEPD	Pathogenic	121917722	RCV000000235;	N	MedGen:C0268532,OMIM:170100	19	33954966	33954966	NM_000285.3:c.551G>A	NP_000276.2:p.Arg184Gln	NC_000019.9:g.33954966C>T	OMIM Allelic Variant:613230.0003	C0268532 170100 Prolidase deficiency