Human Phenotype Ontology

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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

Grandparent Node:
Abnormal myelination (HP:0012447)

Grandparent Node:
Abnormal peripheral nervous system morphology (HP:0000759)

Parent Node:
Abnormal peripheral myelination (HP:0003130)

..Starting node
..Onion bulb formation (HP:0003383)

Term ID:

3383

Name:

Onion bulb formation

Synonym:

Onion bulb formations

Definition:

Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.

Comments:

Reference:

HP:0003383

Genes and Diseases:

Child Nodes:

........

Basal lamina 'onion bulb' formation (HP:0003400)

Sister Nodes:

Decreased number of peripheral myelinated nerve fibers (HP:0003380)

Delayed peripheral myelination (HP:0011401)

Peripheral amyelination (HP:0030172)

Peripheral demyelination (HP:0011096)

Peripheral dysmyelination (HP:0003469)

Peripheral hypermyelination (HP:0030173)

Peripheral hypomyelination (HP:0007182)

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:0003383	HP:0003383	Onion bulb formation	0	ARHGEF10 CL E G H	9639	14103	OMIM:608236	Slowed nerve conduction velocity, autosomal dominant	.	12
HP:0003383	HP:0003383	Onion bulb formation	0	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D	.	4
HP:0003383	HP:0003383	Onion bulb formation	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.	2
HP:0003383	HP:0003383	Onion bulb formation	0	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	.	167
HP:0003383	HP:0003383	Onion bulb formation	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	58
HP:0003383	HP:0003383	Onion bulb formation	0	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	.	58
HP:0003383	HP:0003383	Onion bulb formation	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0003383	HP:0003383	Onion bulb formation	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J	.	111
HP:0003383	HP:0003383	Onion bulb formation	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0003383	HP:0003383	Onion bulb formation	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive	HP:0040283 - Occasional	108
HP:0003383	HP:0003383	Onion bulb formation	0	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.	108
HP:0003383	HP:0003383	Onion bulb formation	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A		108
HP:0003383	HP:0003383	Onion bulb formation	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0003383	HP:0003383	Onion bulb formation	0	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F	.	12
HP:0003383	HP:0003383	Onion bulb formation	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0003383	HP:0003383	Onion bulb formation	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.	135
HP:0003383	HP:0003383	Onion bulb formation	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.	202
HP:0003383	HP:0003383	Onion bulb formation	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C	.	74
HP:0003383	HP:0003383	Onion bulb formation	0	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.	645
HP:0003383	HP:0003383	Onion bulb formation	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.	203
HP:0003383	HP:0003383	Onion bulb formation	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.	134
HP:0003383	HP:0003383	Onion bulb formation	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	134
HP:0003383	HP:0003383	Onion bulb formation	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0003383	HP:0003383	Onion bulb formation	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0003383	HP:0003383	Onion bulb formation	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0003383	HP:0003383	Onion bulb formation	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0003383	HP:0003383	Onion bulb formation	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.	82
HP:0003383	HP:0003383	Onion bulb formation	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0003383	HP:0003383	Onion bulb formation	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.	118
HP:0003383	HP:0003383	Onion bulb formation	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G	.	1
HP:0003383	HP:0003383	Onion bulb formation	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040283 - Occasional	79
HP:0003383	HP:0003383	Onion bulb formation	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.	79
HP:0003383	HP:0003383	Onion bulb formation	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	79
HP:0003383	HP:0003383	Onion bulb formation	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0003383	HP:0003383	Onion bulb formation	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5		49
HP:0003383	HP:0003383	Onion bulb formation	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0003383	HP:0003383	Onion bulb formation	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	170
HP:0003383	HP:0003383	Onion bulb formation	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0003383	HP:0003383	Onion bulb formation	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	.	16
HP:0003383	HP:0003383	Onion bulb formation	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.	180
HP:0003383	HP:0003383	Onion bulb formation	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0003383	HP:0003383	Onion bulb formation	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0003383	HP:0003400	Basal lamina onion bulb formation	1	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.	108
HP:0003383	HP:0003400	Basal lamina onion bulb formation	1	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.	170
HP:0003383	HP:0003400	Basal lamina onion bulb formation	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493

Genes (30) :ARHGEF10 COX6A1 DCAF8 DNM2 EGR2 FGD4 FIG4 GBF1 GDAP1 GJB1 GNB4 HYCC1 INF2 KIF1B LITAF LMNA MFN2 MPZ MTRFR NDRG1 NEFL PMP2 PMP22 PRPS1 PRX SACS SBF1 SBF2 SH3TC2 SLC12A6

Diseases (38) :OMIM:608236 OMIM:616039 OMIM:610100 OMIM:606482 OMIM:145900 OMIM:605253 OMIM:609311 OMIM:611228 OMIM:606483 OMIM:607706 OMIM:608340 OMIM:214400 OMIM:302800 OMIM:615185 OMIM:610532 OMIM:614455 OMIM:118210 OMIM:601098 OMIM:605588 OMIM:609260 OMIM:118200 OMIM:618184 OMIM:180800 ORPHA:320375 OMIM:615035 OMIM:601455 OMIM:607684 OMIM:607734 OMIM:618279 ORPHA:98916 OMIM:118220 OMIM:311070 OMIM:614895 OMIM:270550 OMIM:615284 OMIM:604563 OMIM:601596 OMIM:218000

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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