Human Phenotype Ontology

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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

Grandparent Node:
Abnormal cerebrospinal fluid morphology (HP:0002921)

Parent Node:
Abnormal CSF protein concentration (HP:0025456)

..Starting node
..Increased CSF protein concentration (HP:0002922)

Term ID:

2922

Name:

Increased CSF protein concentration

Synonym:

Cerebrospinal fluid protein increased; Cerebrospinal fluid with increased protein; Elevated cerebrospinal fluid protein; Elevated csf protein; Hyperproteinorrhachia; Increased CSF protein; Increased protein in csf; Spinal fluid protein elevated

Definition:

Increased concentration of protein in the cerebrospinal fluid.

Comments:

Reference:

HP:0002922

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal CSF amyloid concentration (HP:0030860)

Decreased CSF albumin concentration (HP:0025458)

Decreased CSF protein concentration (HP:0025457)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002922	HP:0002922	Increased CSF protein concentration	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0002922	HP:0002922	Increased CSF protein concentration	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040282 - Frequent	74
HP:0002922	HP:0002922	Increased CSF protein concentration	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0002922	HP:0002922	Increased CSF protein concentration	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	253
HP:0002922	HP:0002922	Increased CSF protein concentration	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	253
HP:0002922	HP:0002922	Increased CSF protein concentration	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	253
HP:0002922	HP:0002922	Increased CSF protein concentration	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0002922	HP:0002922	Increased CSF protein concentration	0	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0002922	HP:0002922	Increased CSF protein concentration	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0002922	HP:0002922	Increased CSF protein concentration	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0002922	HP:0002922	Increased CSF protein concentration	0	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy	.	3
HP:0002922	HP:0002922	Increased CSF protein concentration	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002922	HP:0002922	Increased CSF protein concentration	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002922	HP:0002922	Increased CSF protein concentration	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002922	HP:0002922	Increased CSF protein concentration	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	58
HP:0002922	HP:0002922	Increased CSF protein concentration	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040284 - Very rare	33
HP:0002922	HP:0002922	Increased CSF protein concentration	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040282 - Frequent	160
HP:0002922	HP:0002922	Increased CSF protein concentration	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent	160
HP:0002922	HP:0002922	Increased CSF protein concentration	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.	160
HP:0002922	HP:0002922	Increased CSF protein concentration	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040281 - Very frequent	160
HP:0002922	HP:0002922	Increased CSF protein concentration	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0002922	HP:0002922	Increased CSF protein concentration	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease	.	188
HP:0002922	HP:0002922	Increased CSF protein concentration	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	HP:0040283 - Occasional
HP:0002922	HP:0002922	Increased CSF protein concentration	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0002922	HP:0002922	Increased CSF protein concentration	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	1
HP:0002922	HP:0002922	Increased CSF protein concentration	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040284 - Very rare	44
HP:0002922	HP:0002922	Increased CSF protein concentration	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0002922	HP:0002922	Increased CSF protein concentration	0	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B	HP:0040282 - Frequent	134
HP:0002922	HP:0002922	Increased CSF protein concentration	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	134
HP:0002922	HP:0002922	Increased CSF protein concentration	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002922	HP:0002922	Increased CSF protein concentration	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002922	HP:0002922	Increased CSF protein concentration	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002922	HP:0002922	Increased CSF protein concentration	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002922	HP:0002922	Increased CSF protein concentration	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0002922	HP:0002922	Increased CSF protein concentration	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0002922	HP:0002922	Increased CSF protein concentration	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0002922	HP:0002922	Increased CSF protein concentration	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0002922	HP:0002922	Increased CSF protein concentration	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.	72
HP:0002922	HP:0002922	Increased CSF protein concentration	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.	45
HP:0002922	HP:0002922	Increased CSF protein concentration	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	79
HP:0002922	HP:0002922	Increased CSF protein concentration	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0002922	HP:0002922	Increased CSF protein concentration	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	464
HP:0002922	HP:0002922	Increased CSF protein concentration	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0002922	HP:0002922	Increased CSF protein concentration	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0002922	HP:0002922	Increased CSF protein concentration	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	HP:0040283 - Occasional	69
HP:0002922	HP:0002922	Increased CSF protein concentration	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040283 - Occasional	69
HP:0002922	HP:0002922	Increased CSF protein concentration	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0002922	HP:0002922	Increased CSF protein concentration	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	170
HP:0002922	HP:0002922	Increased CSF protein concentration	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent	81
HP:0002922	HP:0002922	Increased CSF protein concentration	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY		81
HP:0002922	HP:0002922	Increased CSF protein concentration	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	81
HP:0002922	HP:0002922	Increased CSF protein concentration	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	81
HP:0002922	HP:0002922	Increased CSF protein concentration	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	81
HP:0002922	HP:0002922	Increased CSF protein concentration	0	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3	.	57
HP:0002922	HP:0002922	Increased CSF protein concentration	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040281 - Very frequent	57
HP:0002922	HP:0002922	Increased CSF protein concentration	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	125
HP:0002922	HP:0002922	Increased CSF protein concentration	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0002922	HP:0002922	Increased CSF protein concentration	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0002922	HP:0002922	Increased CSF protein concentration	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.	80
HP:0002922	HP:0002922	Increased CSF protein concentration	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	20
HP:0002922	HP:0002922	Increased CSF protein concentration	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	6
HP:0002922	HP:0002922	Increased CSF protein concentration	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	3
HP:0002922	HP:0002922	Increased CSF protein concentration	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	2
HP:0002922	HP:0002922	Increased CSF protein concentration	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002922	HP:0002922	Increased CSF protein concentration	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002922	HP:0002922	Increased CSF protein concentration	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002922	HP:0002922	Increased CSF protein concentration	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002922	HP:0002922	Increased CSF protein concentration	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002922	HP:0002922	Increased CSF protein concentration	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002922	HP:0002922	Increased CSF protein concentration	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002922	HP:0002922	Increased CSF protein concentration	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.	107
HP:0002922	HP:0002922	Increased CSF protein concentration	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent	1
HP:0002922	HP:0002922	Increased CSF protein concentration	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0002922	HP:0002922	Increased CSF protein concentration	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	138
HP:0002922	HP:0002922	Increased CSF protein concentration	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	5

Genes (58) :ABHD5 ALDH4A1 ARSA ATP1A2 BCAT2 BTNL2 CACNA1A CD59 COX1 COX2 COX3 EGR2 FTL GALC GBE1 GFAP HLA-DQB1 HLA-DRB1 LIG3 LMNB1 MICU1 MPZ ND1 ND4 ND5 ND6 NDUFS4 NOTCH2NLC OCLN PEX7 PHYH PMP22 POLG PRF1 PRNP PRRT2 PRX PSAP RANBP2 RRM2B SCN1A SLC12A6 SUMF1 TBK1 TICAM1 TLR3 TRAF3 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TTR TXN2 TYMP UNC93B1

Diseases (42) :ORPHA:98907 ORPHA:79101 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:569 OMIM:618850 ORPHA:797 OMIM:612300 ORPHA:550 OMIM:145900 ORPHA:157846 ORPHA:206448 ORPHA:206436 OMIM:245200 ORPHA:206443 OMIM:263570 OMIM:203450 OMIM:123400 ORPHA:298 ORPHA:99027 OMIM:615673 ORPHA:101082 OMIM:252010 OMIM:603472 OMIM:619473 OMIM:251290 OMIM:266500 OMIM:203700 OMIM:258450 OMIM:603553 ORPHA:282166 OMIM:611722 OMIM:608033 ORPHA:88619 OMIM:218000 OMIM:272200 ORPHA:1930 OMIM:105210 ORPHA:478029 OMIM:616811

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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