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 cerebral morphology (HP:0002060)

Parent Node:
Abnormal septum pellucidum morphology (HP:0007375)

..Starting node
..Cavum septum pellucidum (HP:0002389)

Term ID:

2389

Name:

Cavum septum pellucidum

Synonym:

Large cavum septi pellucidi; Persistent cavum septum pellucidum; Widened cavum septum pellucidum

Definition:

If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.

Comments:

Reference:

HP:0002389

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent septum pellucidum (HP:0001331)

Partial absence of the septum pellucidum (HP:0030283)

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:0002389	HP:0002389	Cavum septum pellucidum	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0002389	HP:0002389	Cavum septum pellucidum	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0002389	HP:0002389	Cavum septum pellucidum	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0002389	HP:0002389	Cavum septum pellucidum	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0002389	HP:0002389	Cavum septum pellucidum	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0002389	HP:0002389	Cavum septum pellucidum	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0002389	HP:0002389	Cavum septum pellucidum	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0002389	HP:0002389	Cavum septum pellucidum	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0002389	HP:0002389	Cavum septum pellucidum	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0002389	HP:0002389	Cavum septum pellucidum	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0002389	HP:0002389	Cavum septum pellucidum	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0002389	HP:0002389	Cavum septum pellucidum	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0002389	HP:0002389	Cavum septum pellucidum	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0002389	HP:0002389	Cavum septum pellucidum	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0002389	HP:0002389	Cavum septum pellucidum	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0002389	HP:0002389	Cavum septum pellucidum	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0002389	HP:0002389	Cavum septum pellucidum	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0002389	HP:0002389	Cavum septum pellucidum	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0002389	HP:0002389	Cavum septum pellucidum	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent	231
HP:0002389	HP:0002389	Cavum septum pellucidum	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0002389	HP:0002389	Cavum septum pellucidum	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0002389	HP:0002389	Cavum septum pellucidum	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002389	HP:0002389	Cavum septum pellucidum	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040283 - Occasional	10
HP:0002389	HP:0002389	Cavum septum pellucidum	0	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0002389	HP:0002389	Cavum septum pellucidum	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0002389	HP:0002389	Cavum septum pellucidum	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0002389	HP:0002389	Cavum septum pellucidum	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0002389	HP:0002389	Cavum septum pellucidum	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0002389	HP:0002389	Cavum septum pellucidum	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0002389	HP:0002389	Cavum septum pellucidum	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional	39

Genes (28) :ALG12 APC2 BANF1 CPLX1 CTBP1 FGFRL1 LETM1 LRRC32 MAPK1 MAPKAPK5 MED25 MUSK NKX2-1 NSD1 NSD2 PACS1 PAFAH1B1 PCGF2 PIK3CA PPP1R21 PPP2R5D RAB5IF RBM8A RNF125 SETD2 SMG8 STT3A TUBB2B

Diseases (24) :ORPHA:79324 ORPHA:821 OMIM:614008 OMIM:194190 OMIM:619074 OMIM:619087 OMIM:619869 ORPHA:464738 OMIM:208150 ORPHA:209905 OMIM:117550 ORPHA:329224 OMIM:615009 ORPHA:95232 OMIM:618371 OMIM:602501 OMIM:619383 ORPHA:457279 OMIM:616994 OMIM:274000 OMIM:616260 OMIM:619268 OMIM:619714 ORPHA:300573

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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