Craniofacial Anomalies malady

MalaCards: Craniofacial Anomalies, also known as craniofacial anomaly, is related to short stature and retinitis. An important gene associated with Craniofacial Anomalies is GSC2 (goosecoid homeobox 2), and among its related pathways are Basal cell carcinoma and Hedgehog signaling pathway. The compounds cyclopamine and retinoid have been mentioned in the context of this disorder. Affiliated tissues include endothelial, and related mouse phenotypes are liver/biliary system and respiratory system.

craniofacial anomalies 7 craniofacial anomaly 32

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

(show top 50)    (show all 88)

id	Related Disease	Score	Top Affiliating Genes
1	short stature	26.2	RUNX2, TWIST1, TBX5, GJA1, GNAS
2	retinitis	25.9	SHH, PTCH1, GJA1, FGFR2, MSX2, PAX3
3	craniofacial-deafness-hand syndrome	13.4	PAX3, KIR2DS4
4	enlarged parietal foramina	13.3	ALX4, MSX2
5	muenke syndrome	13.3	FGFR2, TWIST1
6	plagiocephaly	13.2	FGFR2, TWIST1
7	parietal foramina	13.2	ALX4, MSX2
8	cockayne syndrome	13.2	FGFR2, TWIST1
9	orbit embryonal rhabdomyosarcoma	13.1	PTCH1, PAX3, KIR2DS4
10	crouzon syndrome	13.1	TWIST1, FGFR2, MSX2
11	craniosynostosis, syndromic	13.1	MSX2, FGFR2, TWIST1
12	cleidocranial dysplasia	13.1	RUNX2, SHH, MSX2
13	aniridia	13.0	FOXC1, PAX3, KIR2DS4
14	recessive developmental delay, small stature, microcephaly and brain calcifications	13.0	PTCH1, SHH, TWIST1
15	craniofacial abnormalities	12.9	FGFR2, RUNX2
16	atrial heart septal defect	12.9	FOXC1, TBX5
17	dysostosis	12.9	RUNX2, ALX4, FGFR2
18	autosomal dominant disease	12.8	PAX3, MSX2, ALX4, PTCH1
19	dental enamel hypoplasia	12.8	GJA1, MSX2
20	infectious mononucleosis	12.8	FGF8, FGFR2, TWIST1, RUNX2
21	sleep apnea	12.8	SHH, PTCH1, FGFR2, MSX2
22	acrocephalosyndactylia	12.8	RUNX2, TWIST1, FGFR2, MSX2
23	saethre-chotzen syndrome	12.8	MSX2, FGFR2, TWIST1, RUNX2
24	radioulnar synostosis	12.8	TWIST1, FGFR2
25	apnea	12.7	SHH, PTCH1, FGFR2, MSX2
26	cataract-glaucoma	12.7	FOXC1, GJA1
27	axenfeld-rieger syndrome	12.7	GJA1, FOXC1
28	hydrocephalus	12.7	VSX1, FOXC1, FGFR2, TWIST1
29	hypospadias	12.7	BMP4, FGF8, FGFR2, SHH
30	spina bifida	12.6	SHH, CYP26B1, PTCH1, PAX3
31	atrioventricular septal defect	12.6	DHCR7, TBX5, GJA1
32	ossifying fibroma	12.5	RUNX2, GNAS
33	digeorge syndrome	12.5	CYP26B1, TBX5, GSC2
34	holoprosencephaly	12.5	DHCR7, SHH, PTCH1, FGF8, BMP4
35	tooth agenesis	12.5	RUNX2, ENAM, FGF8, MSX2, BMP4
36	fibrous dysplasia	12.5	MSX2, GNAS, RUNX2
37	medulloblastoma	12.5	SHH, PTCH1, FGFR2, PAX3, KIR2DS4
38	coloboma	12.4	SHH, TBX5, BMP4, KIR2DS4
39	chst3-related skeletal dysplasia	12.4	RUNX2, GNAS, FGFR2
40	choroiditis	12.4	TWIST1, SHH, FGFR2, PAX3, VSX1
41	fibrodysplasia ossificans progressiva	12.4	BMP4, MSX2, GNAS
42	progressive osseous heteroplasia	12.3	RUNX2, GNAS, BMP4
43	microphthalmia	12.3	SHH, GJA1, PAX3, BMP4
44	neural tube defect	12.3	CYP26B1, MSX2, PAX3, BMP4, KIR2DS4
45	brachydactyly	12.2	RUNX2, SHH, PTCH1, GNAS
46	stickler syndrome	12.2	DHCR7, TWIST1, PTCH1, ENAM, FGFR2, FGF8
47	pediatric cns embryonal cell carcinoma	12.1	TBX5, FGFR2, FGF8, MSX2, BMP4
48	rhabdomyosarcoma	12.0	PTCH1, GJA1, PAX3, BMP4, KIR2DS4
49	hirschsprung's disease	12.0	DHCR7, GJA1, GNAS, PAX3
50	synostosis	12.0	TWIST1, SHH, ALX4, FGFR2, MSX2, BMP4

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to craniofacial anomalies:

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MGI Mouse Phenotypes related to craniofacial anomalies:

²⁵ (show all 26)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system phenotype	MP:0005370	9.3	BMP4, FOXC1, DHCR7
2	respiratory system phenotype	MP:0005388	9.0	RUNX2, DHCR7, ALX4, FOXC1, PAX3
3	pigmentation phenotype	MP:0001186	8.8	PTCH1, FGFR2, FOXC1, MSX2, PAX3
4	hearing/vestibular/ear phenotype	MP:0005377	7.4	SHH, GJA1, GNAS, FGFR2, FGF8, MSX2
5	renal/urinary system phenotype	MP:0005367	7.1	DHCR7, SHH, PTCH1, GNAS, FGFR2, FGF8
6	digestive/alimentary phenotype	MP:0005381	6.8	RUNX2, DHCR7, TWIST1, SHH, PTCH1, ALX4
7	immune system phenotype	MP:0005387	6.7	RUNX2, SHH, PTCH1, GJA1, GNAS, FGFR2
8	hematopoietic system phenotype	MP:0005397	6.7	RUNX2, PTCH1, GJA1, GNAS, FGFR2, FGF8
9	integument phenotype	MP:0010771	6.6	RUNX2, SHH, PTCH1, GJA1, GNAS, ALX4
10	behavior/neurological phenotype	MP:0005386	6.0	GJA1, PTCH1, SHH, TWIST1, DHCR7, GNAS
11	normal phenotype	MP:0002873	5.9	SHH, TBX5, PTCH1, GJA1, GNAS, ALX4
12	homeostasis/metabolism phenotype	MP:0005376	5.5	GJA1, TBX5, SHH, DHCR7, RUNX2, GNAS
13	growth/size phenotype	MP:0005378	5.4	GJA1, PTCH1, SHH, TWIST1, DHCR7, RUNX2
14	muscle phenotype	MP:0005369	5.3	PTCH1, TBX5, SHH, TWIST1, DHCR7, RUNX2
15	cardiovascular system phenotype	MP:0005385	5.3	PTCH1, TBX5, SHH, TWIST1, DHCR7, RUNX2
16	nervous system phenotype	MP:0003631	5.2	GJA1, PTCH1, SHH, TWIST1, DHCR7, RUNX2
17	vision/eye phenotype	MP:0005391	INF	RUNX2, SHH, , PTCH1, GJA1, ALX4
18	reproductive system phenotype	MP:0005389	INF	RUNX2, SHH, , PTCH1, GJA1, FGFR2
19	embryogenesis phenotype	MP:0005380	INF	TWIST1, SHH, , TBX5, PTCH1, GJA1
20	skeleton phenotype	MP:0005390	INF	RUNX2, TWIST1, , TBX5, PTCH1, GJA1
21	mortality/aging	MP:0010768	INF	PTCH1, TBX5, , SHH, TWIST1, DHCR7
22	endocrine/exocrine gland phenotype	MP:0005379	INF	RUNX2, SHH, , PTCH1, GJA1, GNAS
23	no phenotypic analysis	MP:0003012	INF	RUNX2, SHH, , PTCH1, GJA1, GNAS
24	craniofacial phenotype	MP:0005382	INF	BMP4, RUNX2, PAX3, MSX2, FOXC1, FGF8
25	cellular phenotype	MP:0005384	INF	PTCH1, , SHH, TWIST1, RUNX2, GJA1
26	limbs/digits/tail phenotype	MP:0005371	INF	MSX2, FOXC1, FGF8, FGFR2, ALX4, GNAS

Articles related to craniofacial anomalies:

id	Title	Authors	Year	Affiliating Genes
1	Dental and Craniofacial Anomalies Associated with Axe nfeld-Rieger Syndrome with PITX2 Mutation. (20339518)	Dressler S.... Gramer E.	2010	FOXC1
2	VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. (15051220)	Mintz-Hittner H.A.... Murray J.C.	2004	VSX1
3	Craniofacial anomalies: Clinical and molecular perspectives. (12772530)	Cohen M.M.	2003	BMP4, GNAS, RUNX2
4	A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: report of a Thai family. (12210327)	Kantaputra P.N.... Niikawa N.	2002	TBX5

Genes related to craniofacial anomalies according to GeneCards:

(show all 19)

id	Symbol	Description	Score	GeneCards Section Context
1	GSC2	goosecoid homeobox 2	11.1	Summaries
2	VSX1	visual system homeobox 1	11.0	Publications
3	ENAM	enamelin	11.0
4	MSX2	msh homeobox 2	11.0
5	KIR2DS4	killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4	11.0
6	DHCR7	7-dehydrocholesterol reductase	11.0
7	FGF8	fibroblast growth factor 8 (androgen-induced)	11.0
8	PTCH1	patched 1	11.0
9	TWIST1	twist homolog 1 (Drosophila)	11.0
10	SHH	sonic hedgehog	11.0
11	PAX3	paired box 3	11.0
12	RUNX2	runt-related transcription factor 2	11.0	Publications
13	FGFR2	fibroblast growth factor receptor 2	11.0
14	ALX4	ALX homeobox 4	11.0	Summaries
15	FOXC1	forkhead box C1	11.0	Publications
16	BMP4	bone morphogenetic protein 4	11.0	Publications
17	TBX5	T-box 5	11.0	Publications
18	GNAS	GNAS complex locus	11.0	Publications
19	GJA1	gap junction protein, alpha 1, 43kDa	11.0

Pathways related to craniofacial anomalies according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Basal cell carcinoma20	9.3	BMP4, PTCH1, SHH
2	Hedgehog signaling pathway20	9.1	SHH, PTCH1, BMP4
3	Selected targets of Oct-3/410	9.1	BMP4, FGFR2, GJA1
4	Development_Hedgehog and PTH signaling pathways in bone and cartilage development41	8.9	GNAS, PTCH1, SHH, RUNX2
5	Development Hedgehog and PTH signaling pathways in bone and cartilage development10	8.8	RUNX2, SHH, PTCH1, GNAS
6	Pathways in cancer20	8.8	SHH, PTCH1, FGFR2, FGF8, BMP4

Compounds related to craniofacial anomalies according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	cyclopamine32	9.6	BMP4, PTCH1, SHH
2	retinoid32	8.8	BMP4, FGF8, GJA1, RUNX2
3	deoxyribonucleic acid32	8.7	BMP4, FGFR2, GNAS
4	ribonucleic acid32	8.0	RUNX2, GJA1, GNAS, FGFR2, BMP4
5	steroid32	8.0	RUNX2, DHCR7, GNAS, FGFR2, MSX2, BMP4
6	oligonucleotide32	7.9	RUNX2, GNAS, FGFR2, MSX2, PAX3, BMP4
7	retinoic acid32 42 18	9.7	RUNX2, TBX5, GJA1, FGFR2, FGF8, BMP4
8	thymidine32 18	8.6	RUNX2, GJA1, GNAS, FGFR2, BMP4
9	tyrosine32	6.7	RUNX2, TWIST1, PTCH1, GJA1, GNAS, FGFR2

Biological processes related to craniofacial anomalies according to GeneDecks:

(show top 50)    (show all 57)

id	Name	GO ID	Score	Top Affiliating Genes
1	mesenchymal cell proliferation involved in lung development	GO:060916	10.2	SHH, FGFR2
2	prostate epithelial cord elongation	GO:060523	10.2	SHH, FGFR2
3	epithelial to mesenchymal transition involved in endocardial cushion formation	GO:003198	10.2	FGF8, MSX2
4	epithelial cell proliferation involved in salivary gland morphogenesis	GO:060664	10.1	SHH, FGFR2
5	somite development	GO:061053	10.1	SHH, PTCH1
6	lung lobe morphogenesis	GO:060463	10.1	SHH, FGFR2
7	outflow tract septum morphogenesis	GO:003148	10.1	FGFR2, FGF8, MSX2
8	lung-associated mesenchyme development	GO:060484	10.0	SHH, FGFR2
9	regulation of odontogenesis of dentin-containing tooth	GO:042487	10.0	FGF8, BMP4
10	otic vesicle formation	GO:030916	10.0	FGFR2, FGF8
11	telencephalon regionalization	GO:021978	10.0	BMP4, SHH
12	lymphoid progenitor cell differentiation	GO:002320	10.0	SHH, BMP4
13	branching involved in salivary gland morphogenesis	GO:060445	10.0	SHH, FGFR2, FGF8
14	bud elongation involved in lung branching	GO:060449	10.0	BMP4, FGFR2
15	regulation of branching involved in prostate gland morphogenesis	GO:060687	9.9	FGFR2, BMP4
16	positive regulation of cell division	GO:051781	9.9	FGF8, FGFR2, SHH
17	cranial suture morphogenesis	GO:060363	9.9	TWIST1, MSX2, BMP4
18	branching involved in prostate gland morphogenesis	GO:060442	9.9	FGFR2, BMP4
19	regulation of smooth muscle cell differentiation	GO:051150	9.9	FGFR2, BMP4
20	negative regulation of mitosis	GO:045839	9.9	FGFR2, BMP4
21	renal system development	GO:072001	9.8	SHH, PTCH1, BMP4
22	lung morphogenesis	GO:060425	9.8	BMP4, FGF8
23	branching involved in ureteric bud morphogenesis	GO:001658	9.8	BMP4, FGF8, SHH
24	heart looping	GO:001947	9.8	SHH, GJA1, FGF8
25	smoothened signaling pathway	GO:007224	9.8	BMP4, PTCH1, SHH
26	dorsal/ventral neural tube patterning	GO:021904	9.7	BMP4, SHH
27	limb bud formation	GO:060174	9.7	FGFR2, GJA1, SHH
28	odontogenesis	GO:042476	9.6	ENAM, FGFR2, FGF8, BMP4
29	endocardial cushion development	GO:003197	9.6	TBX5, BMP4
30	odontogenesis of dentin-containing tooth	GO:042475	9.5	SHH, FOXC1, BMP4
31	anterior/posterior pattern specification	GO:009952	9.5	SHH, ALX4, MSX2
32	osteoblast differentiation	GO:001649	9.5	BMP4, MSX2, TWIST1, RUNX2
33	organ morphogenesis	GO:009887	9.5	PAX3, FGFR2, PTCH1
34	mesonephros development	GO:001823	9.4	FGF8, BMP4
35	embryonic digit morphogenesis	GO:042733	9.4	TWIST1, SHH, ALX4, BMP4
36	lung development	GO:030324	9.4	DHCR7, SHH, TBX5, FGFR2
37	post-embryonic development	GO:009791	9.3	DHCR7, ALX4, FGFR2, BMP4
38	in utero embryonic development	GO:001701	9.2	TWIST1, GJA1, FGFR2, FOXC1
39	embryonic forelimb morphogenesis	GO:035115	9.1	TWIST1, SHH, TBX5, ALX4, MSX2
40	heart development	GO:007507	9.0	SHH, TBX5, GJA1, FOXC1
41	embryonic hindlimb morphogenesis	GO:035116	8.9	BMP4, MSX2, FGF8, ALX4, SHH, TWIST1
42	negative regulation of transcription from RNA polymerase II promoter	GO:000122	8.9	TWIST1, SHH, PTCH1, FGFR2, MSX2, BMP4
43	apoptotic process	GO:006915	8.7	TWIST1, SHH, GJA1, FGFR2, FGF8, PAX3
44	negative regulation of cell proliferation	GO:008285	8.6	TBX5, GJA1, FGFR2, MSX2, BMP4
45	cell-cell signaling	GO:007267	8.6	FGFR2, GJA1, TBX5, SHH
46	positive regulation of transcription, DNA-dependent	GO:045893	8.3	RUNX2, SHH, TBX5, FOXC1, PAX3, BMP4
47	positive regulation of transcription from RNA polymerase II promoter	GO:045944	7.6	TWIST1, SHH, TBX5, ALX4, FGFR2, FOXC1
48	tongue morphogenesis	GO:043587	INF	SHH, , BMP4
49	embryonic limb morphogenesis	GO:030326	INF	SHH, , TBX5, PTCH1
50	positive regulation of gene expression	GO:010628	INF	TWIST1, , GJA1, FGF8

Molecular functions related to craniofacial anomalies according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	sequence-specific DNA binding	GO:043565	7.8	VSX1, TBX5, ALX4, GSC2, FOXC1, MSX2
2	sequence-specific DNA binding transcription factor activity	GO:003700	7.7	TBX5, ALX4, GSC2, FOXC1, MSX2, PAX3