Craniofacial Abnormalities malady

MedlinePlus: Craniofacial is a medical term that relates to the bones of the skull and face. craniofacial abnormalities are birth defects of the face or head. some, like cleft lip and palate, are among the most common of all birth defects. others are very rare. most of them affect how a person's face or head looks. these conditions may also affect other parts of the body. treatment depends on the type of problem. plastic and reconstructive surgery may help the person's appearance.²³

MalaCards: Craniofacial Abnormalities is related to mucopolysaccharidosis vii and corneal clouding. An important gene associated with Craniofacial Abnormalities is HOXA7 (homeobox A7), and among its related pathways are CS/DS degradation and Glycosaminoglycan degradation. The compounds mucopolysaccharide and dermatan have been mentioned in the context of this disorder. Related mouse phenotypes are respiratory system and hematopoietic system.

Wikipedia: Craniofacial abnormalities are congenital musculoskeletal disorders which primarily affect the cranium...⁴⁴ more...

craniofacial abnormalities 17 23

Diseases related to craniofacial abnormalities by text searches and GeneDecks gene sharing:

(show top 50)    (show all 77)

id	Related Disease	Score	Top Affiliating Genes
1	mucopolysaccharidosis vii	13.3	IDUA, GUSB
2	corneal clouding	13.1	IDUA, ARSB, GUSB
3	mucopolysaccharidosis	13.0	IDUA, ARSB, GUSB
4	lysosomal storage disease	13.0	GUSB, ARSB, IDUA
5	marfan-like connective tissue disorder	13.0	TGFBR2, TGFBR1
6	thoracic aortic aneurysms and aortic dissections	12.9	TGFBR1, TGFBR2
7	gaucher's disease	12.9	COL2A1, IDUA, GUSB
8	familial thoracic aortic aneurysm and dissection	12.9	TGFBR2, TGFBR1
9	kabuki syndrome	12.9	TGFBR2, TGFBR1
10	eisenmenger syndrome	12.9	TGFBR2, TGFBR1
11	multiple self healing squamous epithelioma	12.9	TGFBR2, TGFBR1
12	neonatal leukemia	12.8	CREBBP, EP300
13	scoliosis	12.7	RUNX2, COL2A1, FLNB
14	rubinstein-taybi syndrome	12.7	CREBBP, EP300
15	acrocephalosyndactylia	12.6	RUNX2, FGFR2
16	infectious mononucleosis	12.5	FGFR2, RUNX2
17	osteonecrosis	12.5	RUNX2, COL2A1, CREBBP
18	craniofacial anomalies	12.3	RUNX2, FGFR2
19	chondrodysplasia	12.2	COL2A1, FGFR2, ARSB, FLNB
20	hydrocephalus	12.1	TGFBR2, FGFR2, ARSB
21	pancreatic cancer	12.0	TGFBR2, TGFBR1, FGFR2
22	rectal cloacogenic carcinoma	12.0	FGFR2, TGFBR1, TGFBR2
23	was-related disorders	12.0	RUNX2, TGFBR2, TGFBR1, IDUA, FLNB
24	osteoporosis	11.9	RUNX2, TGFBR2, TGFBR1, COL2A1, FLNB
25	chondrosarcoma	11.9	RUNX2, TGFBR1, COL2A1, FGFR2
26	cleft palate	11.8	TGFBR2, TGFBR1, COL2A1, FGFR2
27	osteoarthritis	11.8	GUSB, COL2A1, TGFBR1, TGFBR2, RUNX2
28	acute leukemia	11.7	EP300, TGFBR2, CREBBP, HOXA7, IDUA
29	craniosynostosis	11.7	RUNX2, TGFBR2, TGFBR1, FGFR2
30	chst3-related skeletal dysplasia	11.7	RUNX2, COL2A1, FGFR2, GUSB, FLNB
31	mental retardation syndrome	11.7	EP300, TGFBR2, CREBBP, IDUA, GUSB
32	hypertrophy of breast	11.6	EP300, RUNX2, TGFBR1, COL2A1, CREBBP
33	pituitary adenoma	11.6	TGFBR2, TGFBR1, FGFR2, GUSB
34	oral squamous cell carcinoma	11.5	EP300, TGFBR2, TGFBR1, CREBBP, HOXA7
35	short stature	11.5	EP300, RUNX2, COL2A1, CREBBP, ARSB, FLNB
36	conjunctivitis	11.4	FGFR2, CREBBP, TGFBR1, EP300
37	pancreatic carcinoma	11.3	FLNB, FGFR2, TGFBR1, TGFBR2
38	lung carcinoma	11.3	ECE1, TGFBR2, TGFBR1, FGFR2, GUSB
39	acute myeloid leukemia	11.2	EP300, RUNX2, TGFBR1, CREBBP, IDUA
40	boomerang dysplasia	11.2	RUNX2, TGFBR2, TGFBR1, COL2A1, SMARCAL1, FGFR2
41	epithelial ovarian cancer	11.2	EP300, TGFBR2, CREBBP, HOXA7, FGFR2
42	primary hyperoxaluria	11.1	FLNB, GUSB, FGFR2, TGFBR2, RUNX2, ECE1
43	myeloid leukemia	11.0	EP300, RUNX2, TGFBR2, TGFBR1, CREBBP, IDUA
44	adenoma	11.0	ECE1, TGFBR2, TGFBR1, FGFR2, GUSB, FLNB
45	endometrial carcinoma	11.0	EP300, TGFBR2, TGFBR1, CREBBP, FGFR2
46	colon carcinoma	11.0	EP300, TGFBR2, TGFBR1, IDUA, FGFR2, GUSB
47	retinoblastoma	10.9	EP300, RUNX2, TGFBR2, CREBBP, FGFR2
48	cervical cancer	10.7	EP300, TGFBR2, TGFBR1, CREBBP, HOXA7, FGFR2
49	squamous cell carcinoma	10.6	EP300, TGFBR2, TGFBR1, CREBBP, FGFR2
50	breast carcinoma	10.6	EP300, RUNX2, TGFBR2, TGFBR1, FGFR2, GUSB

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to craniofacial abnormalities:

²⁵ (show all 22)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	9.3	ARSB, COL2A1, RUNX2, RAPSN
2	hematopoietic system phenotype	MP:0005397	8.8	SMARCAL1, HOXA7, FGFR2, ARSB, RUNX2
3	hearing/vestibular/ear phenotype	MP:0005377	7.9	ECE1, GUSB, ARSB, FGFR2, IDUA, COL2A1
4	adipose tissue phenotype	MP:0005375	7.7	GUSB, FGFR2, IDUA, CREBBP, TGFBR2, ARSB
5	craniofacial phenotype	MP:0005382	7.3	FGFR2, IDUA, COL2A1, RUNX2, ECE1, ARSB
6	limbs/digits/tail phenotype	MP:0005371	7.1	GUSB, COL2A1, CREBBP, FGFR2, IDUA, RUNX2
7	normal phenotype	MP:0002873	6.7	CREBBP, TGFBR2, ECE1, COL2A1, HOXA7, FGFR2
8	behavior/neurological phenotype	MP:0005386	6.3	CREBBP, TGFBR2, COL2A1, IDUA, FGFR2, ARSB
9	skeleton phenotype	MP:0005390	6.1	FGFR2, HOXA7, SMARCAL1, CREBBP, COL2A1, TGFBR1
10	growth/size phenotype	MP:0005378	INF	IDUA, TGFBR1, RUNX2, CREBBP, SMARCAL1, FGFR2
11	homeostasis/metabolism phenotype	MP:0005376	INF	CREBBP, , ECE1, RUNX2, TGFBR2, TGFBR1
12	muscle phenotype	MP:0005369	INF	IDUA, CREBBP, TGFBR1, TGFBR2, RUNX2, ECE1
13	mortality/aging	MP:0010768	INF	GUSB, FLNB, RAPSN, FGFR2, IDUA, CREBBP
14	nervous system phenotype	MP:0003631	INF	RUNX2, RAPSN, ARSB, FGFR2, IDUA, CREBBP
15	cardiovascular system phenotype	MP:0005385	INF	ARSB, TGFBR1, , ECE1, RUNX2, TGFBR2
16	digestive/alimentary phenotype	MP:0005381	INF	FGFR2, CREBBP, ECE1, TGFBR2, , RUNX2
17	renal/urinary system phenotype	MP:0005367	INF	ARSB, FGFR2, , IDUA, SMARCAL1, COL2A1
18	cellular phenotype	MP:0005384	INF	IDUA, FGFR2, FLNB, GUSB, ARSB, SMARCAL1
19	vision/eye phenotype	MP:0005391	INF	ARSB, , COL2A1, ECE1, RUNX2, TGFBR2
20	embryogenesis phenotype	MP:0005380	INF	ECE1, TGFBR2, , TGFBR1, FGFR2, CREBBP
21	immune system phenotype	MP:0005387	INF	FGFR2, IDUA, HOXA7, SMARCAL1, CREBBP, COL2A1
22	tumorigenesis	MP:0002006	INF	TGFBR2, TGFBR1, FGFR2, CREBBP,

Articles related to craniofacial abnormalities:

id	Title	Authors	Year	Affiliating Genes
1	Cleidocranial dysplasia: etiology and stomatognathic and craniofacial abnormalities. (20357738)	D'ALESSANDRO G.... Piana G.	2010	RUNX2
2	Craniofacial abnormalities in animal models of mucopolysaccharidoses I, VI, and VII. (8006122)	Sheridan O.... Haskins M.	1994	GUSB, ARSB, IDUA
3	Craniofacial abnormalities induced by ectopic expression of the homeobox gene Hox-1.1 in transgenic mice. (2568891)	Balling R.... Kessel M.	1989	HOXA7

Genes related to craniofacial abnormalities according to GeneCards:

(show all 14)

id	Symbol	Description	Score	GeneCards Section Context
1	HOXA7	homeobox A7	11.0	Publications
2	RAPSN	receptor-associated protein of the synapse	11.0
3	SMARCAL1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	11.0
4	IDUA	iduronidase, alpha-L-	11.0	Publications
5	TGFBR1	transforming growth factor, beta receptor 1	11.0
6	RUNX2	runt-related transcription factor 2	11.0	Publications
7	ARSB	arylsulfatase B	11.0	Publications
8	GUSB	glucuronidase, beta	11.0	Publications
9	FLNB	filamin B, beta	11.0
10	ECE1	endothelin converting enzyme 1	11.0
11	COL2A1	collagen, type II, alpha 1	11.0
12	TGFBR2	transforming growth factor, beta receptor II (70/80kDa)	11.0
13	FGFR2	fibroblast growth factor receptor 2	11.0
14	CREBBP	CREB binding protein	11.0

Pathways related to craniofacial abnormalities according to GeneDecks:

(show all 33)

id	Pathway	Score	Top Affiliating Genes
1	CS/DS degradation38	10.2	IDUA, ARSB
2	Glycosaminoglycan degradation20	9.8	IDUA, ARSB, GUSB
3	Downregulation of TGF-beta receptor signaling38	9.7	TGFBR2, TGFBR1
4	IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types37	9.7	TGFBR1, TGFBR2
5	TOB in T-Cell Signaling36	9.6	TGFBR2, TGFBR1
6	Lysosome20	9.5	ARSB, GUSB, IDUA
7	NTHi-Induced Signaling36	9.5	TGFBR1, TGFBR2
8	Inhibition of Angiogenesis by TSP136	9.2	TGFBR2, COL2A1, TGFBR1
9	Angiogenesis3	9.1	TGFBR1, CREBBP, FGFR2
10	MAPK signaling pathway20	8.6	TGFBR1, TGFBR2, FGFR2, FLNB
11	TGF-Beta Pathway36	INF	TGFBR2, , FGFR2, CREBBP, TGFBR1
12	Adherens junction20	INF	CREBBP, TGFBR1, , TGFBR2
13	Pathways in cancer20	INF	FGFR2, , TGFBR2, TGFBR1, CREBBP
14	Development_Glucocorticoid receptor signaling41	INF	, TGFBR1, CREBBP
15	Prostate cancer20	INF	CREBBP, FGFR2,
16	Development Glucocorticoid receptor signaling10	INF	, TGFBR1, CREBBP
17	Transcription_Androgen Receptor nuclear signaling41	INF	TGFBR1, TGFBR2,
18	Nuclear Receptor Activation by Vitamin-A36	INF	TGFBR1, , CREBBP, FGFR2
19	Molecular Mechanisms of Cancer36	INF	CREBBP, FGFR2, , TGFBR2, TGFBR1, COL2A1
20	Phospholipase-C Pathway36	INF	TGFBR1, COL2A1, CREBBP, FGFR2,
21	Transcription Androgen Receptor nuclear signaling10	INF	TGFBR1, TGFBR2,
22	TGF-beta signaling pathway20	INF	CREBBP, TGFBR1, TGFBR2,
23	CREB Pathway36	INF	, FGFR2, CREBBP, TGFBR1
24	Development_TGF-beta receptor signaling41	INF	CREBBP, TGFBR1, TGFBR2,
25	TOB in Osteoblast Signaling36	INF	CREBBP,
26	Signaling Involved in Cardiac Hypertrophy36	INF	CREBBP, TGFBR1, TGFBR2, , FGFR2
27	SMAD Signaling Network36	INF	TGFBR1, FLNB, CREBBP, TGFBR2,
28	Development TGF-beta receptor signaling10	INF	TGFBR2, , TGFBR1, CREBBP
29	Glucocorticoid Receptor Signaling36	INF	TGFBR1, SMARCAL1, CREBBP,
30	DNA damage Role of SUMO in p53 regulation10	INF	, CREBBP
31	PPAR Pathway36	INF	TGFBR1, , CREBBP, FGFR2
32	TGF-beta Signaling Pathways37	INF	, RUNX2, TGFBR2, TGFBR1, CREBBP
33	DNA damage_Role of SUMO in p53 regulation41	INF	, CREBBP

Compounds related to craniofacial abnormalities according to GeneDecks:

(show all 33)

id	Compound	Score	Top Affiliating Genes
1	mucopolysaccharide32	10.1	ARSB, IDUA
2	dermatan32 18	10.8	ARSB, GUSB, IDUA
3	dermatan sulfate32	9.7	IDUA, ARSB, GUSB
4	glucose32	9.7	RUNX2, FGFR2
5	tetrasaccharide32	9.3	IDUA, FGFR2
6	mannose 6-phosphate32 18	10.2	TGFBR2, GUSB, ARSB, IDUA
7	ribonucleic acid32	8.6	TGFBR1, RUNX2, TGFBR2, FGFR2
8	glycosaminoglycan32	8.5	GUSB, ARSB, FGFR2, IDUA, COL2A1
9	sulfate32 18	9.5	COL2A1, FGFR2, GUSB, ARSB, IDUA
10	dexamethasone32 42 34 9 9	12.4	COL2A1, TGFBR1, IDUA, TGFBR2, RUNX2
11	lipid32	7.6	COL2A1, RAPSN, RUNX2, ARSB, TGFBR1, FGFR2
12	oligonucleotide32	7.5	ARSB, FGFR2, TGFBR1, TGFBR2, ECE1, RUNX2
13	alanine32	INF	TGFBR2, , RUNX2, CREBBP, COL2A1, TGFBR1
14	vitamin d32	INF	, RUNX2, COL2A1, TGFBR2, CREBBP, FGFR2
15	calcium32 9 18 9	INF	, GUSB, ECE1, RAPSN, ARSB, RUNX2
16	retinoic acid32 42 18	INF	, TGFBR2, TGFBR1, COL2A1, CREBBP, FGFR2
17	nitric oxide32 9 18 9	INF	RUNX2, FGFR2, ECE1, COL2A1, TGFBR1, CREBBP
18	vegf32	INF	TGFBR2, TGFBR1, CREBBP, FGFR2, ECE1, RUNX2
19	cysteine32	INF	, TGFBR2, ECE1, COL2A1, CREBBP, FGFR2
20	butyrate32	INF	RUNX2, CREBBP, GUSB,
21	steroid32	INF	, TGFBR1, ECE1, FGFR2, ARSB
22	tyrosine32	INF	CREBBP, RAPSN, FGFR2, TGFBR1, TGFBR2, RUNX2
23	estrogen32	INF	FGFR2, CREBBP, TGFBR2, TGFBR1, , RUNX2
24	zinc32 18	INF	CREBBP, COL2A1, TGFBR2, RAPSN, , ECE1
25	progesterone32 42 9 18 9	INF	TGFBR1, FGFR2, CREBBP, TGFBR2,
26	tgf beta132	INF	RUNX2, , TGFBR2, TGFBR1
27	tamoxifen32 34 9 9	INF	, CREBBP, FGFR2, TGFBR2
28	pge232	INF	, GUSB, CREBBP, TGFBR2, RUNX2
29	ly29400232	INF	TGFBR1, TGFBR2, RUNX2,
30	doxorubicin32 34 9 9	INF	CREBBP, GUSB, FGFR2, IDUA,
31	pd 98,05932	INF	FGFR2, , RUNX2, CREBBP, ECE1
32	serine32	INF	CREBBP, TGFBR2, FGFR2, COL2A1, TGFBR1, RUNX2
33	arginine32	INF	COL2A1, CREBBP, IDUA, FGFR2,

Cellular components related to craniofacial abnormalities according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transforming growth factor beta receptor homodimeric complex	GO:070022	9.5	TGFBR1, TGFBR2
2	lysosomal lumen	GO:043202	9.2	GUSB, ARSB, IDUA
3	histone acetyltransferase complex	GO:000123	INF	CREBBP,

Biological processes related to craniofacial abnormalities according to GeneDecks:

(show all 14)

id	Name	GO ID	Score	Top Affiliating Genes
1	chondroitin sulfate catabolic process	GO:030207	9.9	IDUA, ARSB
2	response to cholesterol	GO:070723	9.8	TGFBR2, TGFBR1
3	pathway-restricted SMAD protein phosphorylation	GO:060389	9.7	TGFBR2, TGFBR1
4	mesenchymal cell differentiation	GO:048762	9.6	TGFBR1, FGFR2
5	glycosaminoglycan metabolic process	GO:030203	9.5	ARSB, IDUA, GUSB
6	pharyngeal system development	GO:060037	9.4	ECE1, TGFBR1
7	limb bud formation	GO:060174	9.3	FGFR2, COL2A1
8	palate development	GO:060021	9.3	COL2A1, TGFBR1, TGFBR2
9	lung lobe morphogenesis	GO:060463	9.3	FGFR2, TGFBR2
10	regulation of smoothened signaling pathway	GO:008589	9.2	FGFR2, CREBBP
11	N-terminal peptidyl-lysine acetylation	GO:018076	INF	CREBBP,
12	apoptotic process	GO:006915	INF	TGFBR2, ECE1, , TGFBR1, FGFR2
13	heart development	GO:007507	INF	TGFBR2, , ECE1, TGFBR1
14	digestive tract development	GO:048565	INF	FGFR2,

Molecular functions related to craniofacial abnormalities according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane receptor protein serine/threonine kinase activity	GO:004675	9.6	TGFBR1, TGFBR2
2	transforming growth factor beta-activated receptor activity	GO:005024	9.6	TGFBR1, TGFBR2
3	transforming growth factor beta binding	GO:050431	9.3	TGFBR1, TGFBR2
4	acetyltransferase activity	GO:016407	INF	CREBBP,