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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

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Disease Browser
Parent Node: Purine-Pyrimidine Metabolism, Inborn Errors (D011686)
..Starting node ..Purine Nucleoside Phosphorylase Deficiency (C562587)
Child Nodes:
Sister Nodes:
..Adenosine monophosphate deaminase deficiency (C538234)
..Adenylosuccinate lyase deficiency (C538235)
..Beta-Ureidopropionase Deficiency (C563210)
..Dihydropyrimidine Dehydrogenase Deficiency (D054067) 1
..Gout (D006073) 6
..Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase (C565489)
..Lesch-Nyhan Syndrome (D007926) 1
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Orotic Aciduria II (C562589)
..Oroticaciduria 1 (C537136)
..Phosphoribosylpyrophosphate synthetase deficiency (C537897)
..Phosphoribosylpyrophosphate Synthetase Superactivity (C567064)
..Pseudouridinuria and Mental Defect (C564864)
..Purine Nucleoside Phosphorylase Deficiency (C562587)
..Thiopurine S methyltranferase deficiency (C536512)
..Xanthinuria, Type II (C566358)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9508

Name:

Purine Nucleoside Phosphorylase Deficiency

Definition:

Alternative IDs:

OMIM:613179

ParentIDs:

MESH:D011686

TreeNumbers:

C16.320.565.798/C562587 |C18.452.648.798/C562587

Synonyms:

Nucleoside Phosphorylase Deficiency |PNP Deficiency

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C562587
MeSH: C562587
OMIM: 613179;

Genes: PNP;

Phenotypes

1	HP:0001890	Autoimmune hemolytic anemia
2	HP:0001973	Autoimmune thrombocytopenia
3	HP:0000007	Autosomal recessive inheritance
4	HP:0005372	Abnormality of B cell physiology
5	HP:0001251	Ataxia
6	HP:0000708	Behavioral abnormality
7	HP:0005318	Cerebral vasculitis
8	HP:0001508	Failure to thrive
9	HP:0001290	Generalized hypotonia
10	HP:0001252	Hypotonia
11	HP:0003537	Hypouricemia
12	HP:0005435	Impaired T cell function
13	HP:0001249	Intellectual disability
14	HP:0002732	Lymph node hypoplasia
15	HP:0002665	Lymphoma
16	HP:0001888	Lymphopenia
17	HP:0001270	Motor delay
18	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
19	HP:0000388	Otitis media
20	HP:0002090	Pneumonia
21	HP:0002718	Recurrent bacterial infections
22	HP:0002783	Recurrent lower respiratory tract infections
23	HP:0005390	Recurrent opportunistic infections
24	HP:0002788	Recurrent upper respiratory tract infections
25	HP:0000010	Recurrent urinary tract infections
26	HP:0004429	Recurrent viral infections
27	HP:0000246	Sinusitis
28	HP:0001264	Spastic diplegia
29	HP:0001744	Splenomegaly
30	HP:0002273	Tetraparesis
31	HP:0001337	Tremor

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_000270.3(PNP):c.70C>T (p.Arg24Ter)	4860	PNP	Pathogenic	104894455	RCV000015032;	N	MedGen:C0268125,OMIM:613179,ORPHA:760,SNOMED CT:60743005	14	20940525	20940525	NM_000270.3:c.70C>T	NP_000261.2:p.Arg24Ter	NC_000014.8:g.20940525C>T	OMIM Allelic Variant:164050.0008	C0268125 613179 Purine-nucleoside phosphorylase deficiency
NM_000270.3(PNP):c.172C>T (p.Arg58Ter)	4860	PNP	Pathogenic	104894460	RCV000015033;	N	MedGen:C0268125,OMIM:613179,ORPHA:760,SNOMED CT:60743005	14	20940627	20940627	NM_000270.3:c.172C>T	NP_000261.2:p.Arg58Ter	NC_000014.8:g.20940627C>T	OMIM Allelic Variant:164050.0009	C0268125 613179 Purine-nucleoside phosphorylase deficiency
NM_000270.3(PNP):c.265G>A (p.Glu89Lys)	4860	PNP	Pathogenic	104894453	RCV000015025;	N	MedGen:C0268125,OMIM:613179,ORPHA:760,SNOMED CT:60743005	14	20942714	20942714	NM_000270.3:c.265G>A	NP_000261.2:p.Glu89Lys	NC_000014.8:g.20942714G>A	OMIM Allelic Variant:164050.0001	C0268125 613179 Purine-nucleoside phosphorylase deficiency
NM_000270.3(PNP):c.383A>G (p.Asp128Gly)	4860	PNP	Pathogenic	104894450	RCV000015027;	N	MedGen:C0268125,OMIM:613179,ORPHA:760,SNOMED CT:60743005	14	20943029	20943029	NM_000270.3:c.383A>G	NP_000261.2:p.Asp128Gly	NC_000014.8:g.20943029A>G	OMIM Allelic Variant:164050.0003	C0268125 613179 Purine-nucleoside phosphorylase deficiency
NM_000270.3(PNP):c.520G>C (p.Ala174Pro)	4860	PNP	Pathogenic	104894454	RCV000015026;	N	MedGen:C0268125,OMIM:613179,ORPHA:760,SNOMED CT:60743005	14	20943279	20943279	NM_000270.3:c.520G>C	NP_000261.2:p.Ala174Pro	NC_000014.8:g.20943279G>C	OMIM Allelic Variant:164050.0002	C0268125 613179 Purine-nucleoside phosphorylase deficiency
NM_000270.3(PNP):c.575A>G (p.Tyr192Cys)	4860	PNP	Pathogenic	104894452	RCV000015030;	N	MedGen:C0268125,OMIM:613179,ORPHA:760,SNOMED CT:60743005	14	20943334	20943334	NM_000270.3:c.575A>G	NP_000261.2:p.Tyr192Cys	NC_000014.8:g.20943334A>G	OMIM Allelic Variant:164050.0006	C0268125 613179 Purine-nucleoside phosphorylase deficiency
NM_000270.3(PNP):c.701G>C (p.Arg234Pro)	4860	PNP	Pathogenic	104894451	RCV000015028;	N	MedGen:C0268125,OMIM:613179,ORPHA:760,SNOMED CT:60743005	14	20944591	20944591	NM_000270.3:c.701G>C	NP_000261.2:p.Arg234Pro	NC_000014.8:g.20944591G>C	OMIM Allelic Variant:164050.0004	C0268125 613179 Purine-nucleoside phosphorylase deficiency