Enlarged Parietal Foramina malady

Genetics Home Reference: Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the two bones (parietal bones) that form the top and sides of the skull. This condition is due to problems with bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, with variable size ranging from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy.¹⁷

MalaCards: Enlarged Parietal Foramina, also known as symmetric parietal foramina, is related to parietal foramina and autosomal dominant disease. An important gene associated with Enlarged Parietal Foramina is ALX4 (ALX homeobox 4). Related mouse phenotypes are craniofacial and limbs/digits/tail.

GeneReviews summary for msx2

enlarged parietal foramina 15 16 17 symmetric parietal foramina 15 16 foramina parietalia permagna 17 cranium bifidum occultum 16 parietal foramina 43 cranium bifidum 17

cranioschisis 43 catlin marks 17 hypertrophy 43 pfm 17 fpp 17

Diseases related to enlarged parietal foramina by text searches and GeneDecks gene sharing:

(show top 50)    (show all 160)

id	Related Disease	Score	Top Affiliating Genes
1	parietal foramina	32.1	MSX2, ALX4
2	autosomal dominant disease	12.1	ALX4, MSX2
3	polydactyly	12.1	MSX2, ALX4
4	synostosis	12.0	ALX4, MSX2
5	syndactyly	11.8	MSX2, ALX4
6	hypertension	11.3
7	muscle hypertrophy	9.4
8	prostatic hypertrophy	9.4
9	prostatitis	9.4
10	parietal foramina 1	9.3
11	parietal foramina 2	9.3
12	essential hypertension	9.3
13	parietal foramina with cleidocranial dysplasia	9.1
14	cardiomyopathy	9.0
15	hypertrophic cardiomyopathy	8.8
16	potocki-shaffer syndrome	8.7
17	headache	8.6
18	myostatin-related muscle hypertrophy	8.2
19	fibrosis	8.0
20	hypertrophy of breast	7.8
21	dysostosis	7.8
22	encephalocele	7.8
23	exostoses	7.8
24	kidney disease	7.7
25	aldosteronism	7.4
26	meningoencephalocele	7.3
27	gingival hypertrophy	7.3
28	prostate cancer	7.3
29	cleidocranial dysplasia	7.0
30	craniosynostosis	7.0
31	imperforate anus	7.0
32	anemia	6.9
33	insulin resistance	6.9
34	myocardial infarction	6.9
35	obesity	6.9
36	hypertrophy of tongue papillae	6.7
37	hyperostosis	6.7
38	kidney hypertrophy	6.7
39	neuronitis	6.7
40	peritonitis	6.7
41	thyroiditis	6.7
42	adenoiditis	6.7
43	carcinoma	6.7
44	gastric mucosal hypertrophy	6.7
45	familial hypertrophic cardiomyopathy	6.4
46	nephropathy	6.4
47	prostate carcinoma	6.4
48	muscular atrophy	6.0
49	pulmonary hypertension	6.0
50	polycystic kidney disease	6.0

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to enlarged parietal foramina:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial phenotype	MP:0005382	9.1	MSX2, ALX4
2	limbs/digits/tail phenotype	MP:0005371	8.8	MSX2, ALX4

Articles related to enlarged parietal foramina:

id	Title	Authors	Year	Affiliating Genes
1	Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. (16319823)	Mavrogiannis L.A.... Wilkie A.O.	2006	MSX2, ALX4
2	Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11. (8644736)	Bartsch O.... Willems P.J.	1996	ALX4
3	Enlarged Parietal Foramina/Craniu m Bifidum (20301307)	Wilkie A.O.M.... Mavrogiannis L.A.	1993	MSX2, ALX4

Genes related to enlarged parietal foramina according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ALX4	ALX homeobox 4	11.1	Publications
2	MSX2	msh homeobox 2	11.1	Publications

Cellular components related to enlarged parietal foramina according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor complex	GO:005667	9.1	MSX2, ALX4

Biological processes related to enlarged parietal foramina according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	anterior/posterior pattern specification	GO:009952	9.1	MSX2, ALX4
2	embryonic forelimb morphogenesis	GO:035115	9.0	MSX2, ALX4
3	embryonic hindlimb morphogenesis	GO:035116	8.8	MSX2, ALX4

Molecular functions related to enlarged parietal foramina according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	sequence-specific DNA binding transcription factor activity	GO:003700	9.1	MSX2, ALX4
2	sequence-specific DNA binding	GO:043565	8.8	MSX2, ALX4