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:
Abnormality of cranial sutures (HP:0011329)

Parent Node:
Abnormality of the anterior fontanelle (HP:0000236)

Parent Node:
Delayed cranial suture closure (HP:0000270)

..Starting node
..Delayed closure of the anterior fontanelle (HP:0001476)

Term ID:

1476

Name:

Delayed closure of the anterior fontanelle

Synonym:

Delayed closure anterior fontanel; Delayed closure of anterior fontanelle; Delayed closure of the bregma sutures; Delayed closure of the soft spot on the skull; Late closure of anterior fontanelle; Late closure of large anterior fontanel; Late closure of soft spot on the skull; Late closure of the bregma sutures; Later than typical closing of soft spot of skull; Persistent anterior fontanelle

Definition:

A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.

Comments:

Reference:

HP:0001476

Genes and Diseases:

Child Nodes:

........

Persistent open anterior fontanelle (HP:0004474)

Sister Nodes:

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:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease		48
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040280 - Obligate	140
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040280 - Obligate	3
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040280 - Obligate	2
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS		39
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040284 - Very rare	4
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040284 - Very rare	9
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent	217
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)	.	46
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0001476	HP:0001476	Delayed closure of the anterior fontanelle	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0001476	HP:0004474	Persistent open anterior fontanelle	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040283 - Occasional	102
HP:0001476	HP:0004474	Persistent open anterior fontanelle	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0001476	HP:0004474	Persistent open anterior fontanelle	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040281 - Very frequent	39
HP:0001476	HP:0004474	Persistent open anterior fontanelle	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0001476	HP:0004474	Persistent open anterior fontanelle	1	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0001476	HP:0004474	Persistent open anterior fontanelle	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90

Genes (29) :ADAMTS2 AMER1 ANKRD11 ASPA ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A BANF1 CTSK FAM111A FLNA GH1 GRB10 H19 HDAC4 IGF2 MED12 MMP2 NLRP3 PEX14 PEX19 POLR3A RPS6KA3 RUNX2 SEC23A SMC3 TBCE ZIC1

Diseases (30) :OMIM:225410 OMIM:300373 ORPHA:2332 OMIM:271900 ORPHA:357074 ORPHA:2834 OMIM:278250 OMIM:304150 OMIM:614008 ORPHA:763 OMIM:265800 OMIM:127000 OMIM:311300 OMIM:304120 OMIM:262400 ORPHA:96182 ORPHA:231140 OMIM:619797 OMIM:305450 OMIM:259600 ORPHA:1451 OMIM:614887 OMIM:614886 OMIM:264090 OMIM:303600 OMIM:119600 OMIM:607812 OMIM:610759 OMIM:244460 OMIM:618736

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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