Myofibromatosis, Infantile, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

IMF1 MCID: MYF007 MIFTS: 39	Myofibromatosis, Infantile, 1 (IMF1) Categories: Bone diseases, Cancer diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Myofibromatosis, Infantile, 1

MalaCards integrated aliases for Myofibromatosis, Infantile, 1:

Name: Myofibromatosis, Infantile, 1 ⁵⁸

Congenital Generalized Fibromatosis ⁷⁷ ⁵⁴ ⁷⁶

Infantile Myofibromatosis 1 ³⁰ ⁶

Myofibromatosis ⁴⁵ ⁷⁴

Imf1 ⁵⁸ ⁷⁶

Cgf ⁵⁸ ⁷⁶

Fibromatosis, Congenital Generalized; Cgf ⁵⁸

Fibromatosis, Congenital Generalized ⁵⁸

Myofibromatosis, Infantile, Type 1 ⁴¹

Myofibromatosis, Infantile 1 ⁷⁶

Myofibromatosis, Juvenile ⁵⁸

Infantile Myofibromatosis ⁷⁴

Juvenile Myofibromatosis ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
onset at birth or in early childhood
tumors may show spontaneous regression
visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin
solitary disease is more common in males

HPO:

³³

myofibromatosis, infantile, 1:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Skin diseases Bone diseases Muscle diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 228550

MeSH ⁴⁵ D018224

MedGen ⁴³ C0432284 C1856768 C4551572

SNOMED-CT via HPO ⁷⁰ 112682009 263681008 424568000

UMLS ⁷⁴ C0206648 C0432284

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Summaries for Myofibromatosis, Infantile, 1

UniProtKB/Swiss-Prot : ⁷⁶ Myofibromatosis, infantile 1: A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality.

MalaCards based summary : Myofibromatosis, Infantile, 1, also known as congenital generalized fibromatosis, is related to infantile myofibromatosis and myopericytoma. An important gene associated with Myofibromatosis, Infantile, 1 is PDGFRB (Platelet Derived Growth Factor Receptor Beta), and among its related pathways/superpathways are MicroRNAs in cancer and Angiogenesis (CST). Affiliated tissues include skin, bone and spinal cord, and related phenotypes are fibroma and abnormality of connective tissue

OMIM : ⁵⁸ Infantile myofibromatosis is a rare mesenchymal disorder characterized by the onset of nodules in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about 50% of patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life (summary by Arcangeli and Calista, 2006). (228550)

Wikipedia : ⁷⁷ Infantile myofibromatosis (also known as "Congenital generalized fibromatosis," and "Congenital... more...

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Related Diseases for Myofibromatosis, Infantile, 1

Diseases in the Infantile Myofibromatosis family:

Myofibromatosis, Infantile, 1

Myofibromatosis, Infantile, 2

Diseases related to Myofibromatosis, Infantile, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)

#	Related Disease	Score	Top Affiliating Genes
1	infantile myofibromatosis	30.8	ACTC1 NOTCH3 PDGFRB
2	myopericytoma	30.0	ACTC1 PDGFRB
3	peroxisome biogenesis disorder 5a	11.7
4	myofibroma	11.5
5	myofibromatosis, infantile, 2	11.2
6	peroxisome biogenesis disorder 5b	11.1
7	dupuytren contracture	11.1
8	pityriasis rubra pilaris	10.3
9	fibromatosis	10.3
10	fibromuscular dysplasia	10.1
11	intussusception	10.1
12	fibrosarcoma	10.1
13	congenital fibrosarcoma	10.1
14	pelvic organ prolapse	10.0
15	hemochromatosis, neonatal	10.0
16	osteomyelitis	10.0
17	dermoid cyst	10.0
18	myoma	10.0
19	gingival overgrowth	10.0
20	leiomyomatosis	10.0
21	intestinal obstruction	10.0
22	exophthalmos	10.0
23	cutis marmorata telangiectatica congenita	9.9
24	fibroma	9.9
25	porencephaly	9.9
26	gingival hypertrophy	9.9
27	dermatofibrosarcoma protuberans	9.9	ACTC1 PDGFRB
28	leiomyosarcoma	9.8	ACTC1 PDGFRB
29	endometrial stromal sarcoma	9.8	ACTC1 PDGFRB
30	binswanger's disease	9.8	ACTC1 NOTCH3
31	gastrointestinal stromal tumor	9.7	ACTC1 PDGFRB
32	rhabdomyosarcoma	9.6	ACTC1 PDGFRB

Graphical network of the top 20 diseases related to Myofibromatosis, Infantile, 1:

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Symptoms & Phenotypes for Myofibromatosis, Infantile, 1

Human phenotypes related to Myofibromatosis, Infantile, 1:

³³

#	Description	HPO Frequency	HPO Source Accession
1	fibroma ³³		HP:0010614
2	abnormality of connective tissue ³³		HP:0003549

Symptoms via clinical synopsis from OMIM:

⁵⁸

Muscle Soft Tissue:
myofibromatosis affecting skin, muscle, bone, and viscera
small, firm, rubbery, flesh-colored nodules most commonly found on the head, neck, and trunk
benign soft tissue developmental anomalies
dermal or subcutaneous infiltrate of spindle-shaped cells arranged in a whorled pattern seen on histology

Clinical features from OMIM:

228550

MGI Mouse Phenotypes related to Myofibromatosis, Infantile, 1:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	9.13	ACTC1 NOTCH3 PDGFRB
2	normal	MP:0002873	8.8	ACTC1 NOTCH3 PDGFRB

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Drugs & Therapeutics for Myofibromatosis, Infantile, 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A Study of Oral LOXO-292 in Pediatric Patients With Advanced Solid or Primary Central Nervous System Tumors	Recruiting	NCT03899792	Phase 1, Phase 2	LOXO-292

Search NIH Clinical Center for Myofibromatosis, Infantile, 1

Cochrane evidence based reviews: myofibromatosis

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Genetic Tests for Myofibromatosis, Infantile, 1

Genetic tests related to Myofibromatosis, Infantile, 1:

#	Genetic test	Affiliating Genes
1	Infantile Myofibromatosis 1 ³⁰

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Anatomical Context for Myofibromatosis, Infantile, 1

MalaCards organs/tissues related to Myofibromatosis, Infantile, 1:

⁴²

Skin, Bone, Spinal Cord

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Publications for Myofibromatosis, Infantile, 1

Articles related to Myofibromatosis, Infantile, 1:

(show all 25)

#	Title	Authors	Year
1	Congenital generalized fibromatosis. Extraosseous accumulation of bone seeking radiopharmaceutical. ( 8732847 )	Sty J.R....Carmody T.J.	1996
2	Solitary fibromatosis of bone. A rare variant of congenital generalized fibromatosis. ( 1993381 )	Bolano L.E....Altshuler G.	1991
3	Congenital generalized fibromatosis. ( 2369033 )	Aguirre Vila-Coro A....Gallardo G.	1990
4	Congenital generalized fibromatosis with predominant osseous involvement in a Chinese newborn. ( 2915040 )	Chan Y.F....Tong C.Y.	1989
5	Congenital generalized fibromatosis: a new management strategy provided by magnetic resonance imaging. ( 3591755 )	Moore J.B....Potchen E.J.	1987
6	Congenital generalized fibromatosis causing spinal cord compression. ( 4043956 )	Altemani A.M....Martins Filho J.	1985
7	Congenital generalized fibromatosis: a review of the literature and report of a case associated with porencephaly, hemiatrophy, and cutis marmorata telangiectatica congenita. ( 6368619 )	Spraker M.K....Esterly N.B.	1984
8	Dermoid of the cornea in association with congenital generalized fibromatosis. A case report. ( 6659899 )	Vangsted P....Limpaphayom P.	1983
9	Congenital generalized fibromatosis. Case report and literature review. ( 7162878 )	Brill P.W....Gilbert E.F.	1982
10	Ultrastructural studies on congenital generalized fibromatosis regressed spontaneously. ( 7324042 )	Kobayashi Y....Yamamoto T.Y.	1981
11	Localized form of congenital generalized fibromatosis. A report of 3 cases with myofibroblasts. ( 6454877 )	Liew S.H....Haynes M.	1981
12	Congenital generalized fibromatosis with visceral involvement. A case report. ( 7260846 )	Roggli V.L....Hawkins E.	1980
13	Congenital solitary fibromatosis of the skeleton: case report of a variant of congenital generalized fibromatosis. ( 630542 )	Kindblom L.G....Angervall L.	1978
14	Congenital solitary fibromatosis of soft tissues, a variant of congenital generalized fibromatosis. 2 cases reports. ( 920181 )	Kindblom L.G....Angervall L.	1977
15	Congenital generalized fibromatosis: an autosomal recessive condition? ( 1269171 )	Baird P.A....Worth A.J.	1976
16	Congenital generalized fibromatosis. An African case with gingival hypertrophy and other unusual features. ( 1086595 )	Familusi J.B....Attah E.B.	1976
17	Congenital generalized fibromatosis: a case report with roentgen manifestations of the skeleton. ( 819961 )	Schlangen J.T.	1976
18	Congenital generalized fibromatosis. ( 1227549 )	Elliott D.E....Demasi A.W.	1975
19	Fibroma of the cornea. Report of a case associated with congenital generalized fibromatosis. ( 4621153 )	Antine B.E....Arisco M.J.	1974
20	Congenital generalized fibromatosis with complete spontaneous regression. A case report. ( 5055162 )	Schaffzin E.A....Kaye R.	1972
21	Congenital generalized fibromatosis: A case limited to osseous lesions. ( 5055163 )	Heiple K.G....Aikawa M.	1972
22	Congenital generalized fibromatosis (renal and skeletal) with complete spontaneous regression. ( 13980570 )	TENG P...COHN WL	1963
23	Congenital generalized fibromatosis in infancy. ( 13866186 )	Beatty E.C.	1962
24	Congenital generalized fibromatosis. Case report, with roentgen manifestations. ( 13694986 )	CONDON V.R....Allen R.P.	1961
25	Congenital generalized fibromatosis. ( 13523573 )	SHNITKA TK...HORNER RH	1958

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Genes for Myofibromatosis, Infantile, 1

Genes related to Myofibromatosis, Infantile, 1 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	1227.35	Molecular basis known ⁵⁸ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁶ GeneCards inferred via : Disorders Variants (show sections)	23731542 15054839 23731537 (more) 20301594
2	NOTCH3	Notch Receptor 3	Protein Coding	400	Pathogenic ⁶
3	ACTC1	Actin Alpha Cardiac Muscle 1	Protein Coding	19.29	Novoseek inferred ⁵⁶	9615114

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Variations for Myofibromatosis, Infantile, 1

UniProtKB/Swiss-Prot genetic disease variations for Myofibromatosis, Infantile, 1:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	PDGFRB	p.Arg561Cys	VAR_069925	rs367543286
2	PDGFRB	p.Pro660Thr	VAR_069926	rs144050370

ClinVar genetic disease variations for Myofibromatosis, Infantile, 1:

⁶ (show top 50) (show all 54)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PDGFRB	NM_002609.3(PDGFRB): c.1998C> A (p.Asn666Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs864309711	GRCh38	Chromosome 5, 150124275: 150124275
2	PDGFRB	NM_002609.3(PDGFRB): c.1998C> A (p.Asn666Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs864309711	GRCh37	Chromosome 5, 149503838: 149503838
3	PDGFRB	NM_002609.3(PDGFRB): c.1681C> T (p.Arg561Cys)	single nucleotide variant	Pathogenic	rs367543286	GRCh37	Chromosome 5, 149505134: 149505134
4	PDGFRB	NM_002609.3(PDGFRB): c.1681C> T (p.Arg561Cys)	single nucleotide variant	Pathogenic	rs367543286	GRCh38	Chromosome 5, 150125571: 150125571
5	PDGFRB	NM_002609.3(PDGFRB): c.1978C> A (p.Pro660Thr)	single nucleotide variant	Pathogenic	rs144050370	GRCh37	Chromosome 5, 149503858: 149503858
6	PDGFRB	NM_002609.3(PDGFRB): c.1978C> A (p.Pro660Thr)	single nucleotide variant	Pathogenic	rs144050370	GRCh38	Chromosome 5, 150124295: 150124295
7	NOTCH3	NM_000435.2(NOTCH3): c.4556T> C (p.Leu1519Pro)	single nucleotide variant	Pathogenic	rs367543285	GRCh37	Chromosome 19, 15285059: 15285059
8	NOTCH3	NM_000435.2(NOTCH3): c.4556T> C (p.Leu1519Pro)	single nucleotide variant	Pathogenic	rs367543285	GRCh38	Chromosome 19, 15174248: 15174248
9	PDGFRB	NM_002609.3(PDGFRB): c.85A> T (p.Ile29Phe)	single nucleotide variant	Benign	rs17110944	GRCh38	Chromosome 5, 150135834: 150135834
10	PDGFRB	NM_002609.3(PDGFRB): c.85A> T (p.Ile29Phe)	single nucleotide variant	Benign	rs17110944	GRCh37	Chromosome 5, 149515397: 149515397
11	PDGFRB	NM_002609.3(PDGFRB): c.2523G> A (p.Lys841=)	single nucleotide variant	Benign/Likely benign	rs41287108	GRCh37	Chromosome 5, 149500514: 149500514
12	PDGFRB	NM_002609.3(PDGFRB): c.2523G> A (p.Lys841=)	single nucleotide variant	Benign/Likely benign	rs41287108	GRCh38	Chromosome 5, 150120951: 150120951
13	PDGFRB	NM_002609.3(PDGFRB): c.1699A> G (p.Lys567Glu)	single nucleotide variant	Pathogenic	rs1554108389	GRCh38	Chromosome 5, 150125553: 150125553
14	PDGFRB	NM_002609.3(PDGFRB): c.1699A> G (p.Lys567Glu)	single nucleotide variant	Pathogenic	rs1554108389	GRCh37	Chromosome 5, 149505116: 149505116
15	PDGFRB	NM_002609.3(PDGFRB): c.1033C> T (p.Pro345Ser)	single nucleotide variant	Benign/Likely benign	rs2229558	GRCh38	Chromosome 5, 150132844: 150132844
16	PDGFRB	NM_002609.3(PDGFRB): c.1033C> T (p.Pro345Ser)	single nucleotide variant	Benign/Likely benign	rs2229558	GRCh37	Chromosome 5, 149512407: 149512407
17	PDGFRB	NM_002609.3(PDGFRB): c.1854G> A (p.Thr618=)	single nucleotide variant	Benign	rs56072663	GRCh37	Chromosome 5, 149504348: 149504348
18	PDGFRB	NM_002609.3(PDGFRB): c.1854G> A (p.Thr618=)	single nucleotide variant	Benign	rs56072663	GRCh38	Chromosome 5, 150124785: 150124785
19	PDGFRB	NM_002609.3(PDGFRB): c.1505G> A (p.Arg502Gln)	single nucleotide variant	Benign	rs148974733	GRCh37	Chromosome 5, 149509394: 149509394
20	PDGFRB	NM_002609.3(PDGFRB): c.1505G> A (p.Arg502Gln)	single nucleotide variant	Benign	rs148974733	GRCh38	Chromosome 5, 150129831: 150129831
21	PDGFRB	NM_002609.3(PDGFRB): c.3119G> T (p.Gly1040Val)	single nucleotide variant	Benign	rs149417689	GRCh37	Chromosome 5, 149497199: 149497199
22	PDGFRB	NM_002609.3(PDGFRB): c.3119G> T (p.Gly1040Val)	single nucleotide variant	Benign	rs149417689	GRCh38	Chromosome 5, 150117636: 150117636
23	PDGFRB	NM_002609.3(PDGFRB): c.1149G> C (p.Leu383=)	single nucleotide variant	Benign	rs2228439	GRCh37	Chromosome 5, 149511636: 149511636
24	PDGFRB	NM_002609.3(PDGFRB): c.1149G> C (p.Leu383=)	single nucleotide variant	Benign	rs2228439	GRCh38	Chromosome 5, 150132073: 150132073
25	PDGFRB	NM_002609.3(PDGFRB): c.365-4G> T	single nucleotide variant	Benign	rs139448702	GRCh38	Chromosome 5, 150135020: 150135020
26	PDGFRB	NM_002609.3(PDGFRB): c.365-4G> T	single nucleotide variant	Benign	rs139448702	GRCh37	Chromosome 5, 149514583: 149514583
27	PDGFRB	NM_002609.3(PDGFRB): c.2616G> A (p.Pro872=)	single nucleotide variant	Benign	rs148709288	GRCh38	Chromosome 5, 150120094: 150120094
28	PDGFRB	NM_002609.3(PDGFRB): c.2616G> A (p.Pro872=)	single nucleotide variant	Benign	rs148709288	GRCh37	Chromosome 5, 149499657: 149499657
29	PDGFRB	NM_002609.3(PDGFRB): c.1453G> A (p.Glu485Lys)	single nucleotide variant	Benign	rs41287110	GRCh38	Chromosome 5, 150129883: 150129883
30	PDGFRB	NM_002609.3(PDGFRB): c.1453G> A (p.Glu485Lys)	single nucleotide variant	Benign	rs41287110	GRCh37	Chromosome 5, 149509446: 149509446
31	PDGFRB	NM_002609.3(PDGFRB): c.1391C> T (p.Thr464Met)	single nucleotide variant	Benign	rs74943037	GRCh38	Chromosome 5, 150129945: 150129945
32	PDGFRB	NM_002609.3(PDGFRB): c.1391C> T (p.Thr464Met)	single nucleotide variant	Benign	rs74943037	GRCh37	Chromosome 5, 149509508: 149509508
33	PDGFRB	NM_002609.3(PDGFRB): c.102C> T (p.Val34=)	single nucleotide variant	Benign	rs17708515	GRCh38	Chromosome 5, 150135817: 150135817
34	PDGFRB	NM_002609.3(PDGFRB): c.102C> T (p.Val34=)	single nucleotide variant	Benign	rs17708515	GRCh37	Chromosome 5, 149515380: 149515380
35	PDGFRB	NM_002609.3(PDGFRB): c.2023+5C> T	single nucleotide variant	Uncertain significance	rs369842668	GRCh38	Chromosome 5, 150124245: 150124245
36	PDGFRB	NM_002609.3(PDGFRB): c.2023+5C> T	single nucleotide variant	Uncertain significance	rs369842668	GRCh37	Chromosome 5, 149503808: 149503808
37	PDGFRB	NM_002609.3(PDGFRB): c.1761G> A (p.Leu587=)	single nucleotide variant	Benign	rs56078873	GRCh38	Chromosome 5, 150125491: 150125491
38	PDGFRB	NM_002609.3(PDGFRB): c.1761G> A (p.Leu587=)	single nucleotide variant	Benign	rs56078873	GRCh37	Chromosome 5, 149505054: 149505054
39	PDGFRB	NM_002609.3(PDGFRB): c.1472T> C (p.Val491Ala)	single nucleotide variant	Uncertain significance	rs540480924	GRCh38	Chromosome 5, 150129864: 150129864
40	PDGFRB	NM_002609.3(PDGFRB): c.1472T> C (p.Val491Ala)	single nucleotide variant	Uncertain significance	rs540480924	GRCh37	Chromosome 5, 149509427: 149509427
41	PDGFRB	NM_002609.3(PDGFRB): c.2844G> A (p.Arg948=)	single nucleotide variant	Benign	rs55647240	GRCh37	Chromosome 5, 149498370: 149498370
42	PDGFRB	NM_002609.3(PDGFRB): c.2844G> A (p.Arg948=)	single nucleotide variant	Benign	rs55647240	GRCh38	Chromosome 5, 150118807: 150118807
43	PDGFRB	NC_000005.10: g.(?_150124230)_(150137067_?)dup	duplication	Uncertain significance		GRCh38	Chromosome 5, 150124230: 150137067
44	PDGFRB	NC_000005.10: g.(?_150124230)_(150137067_?)dup	duplication	Uncertain significance		GRCh37	Chromosome 5, 149503793: 149516630
45	PDGFRB	NM_002609.3(PDGFRB): c.1217A> G (p.Gln406Arg)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 5, 150132005: 150132005
46	PDGFRB	NM_002609.3(PDGFRB): c.1217A> G (p.Gln406Arg)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 5, 149511568: 149511568
47	PDGFRB	NM_002609.3(PDGFRB): c.484G> A (p.Glu162Lys)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 5, 150134897: 150134897
48	PDGFRB	NM_002609.3(PDGFRB): c.484G> A (p.Glu162Lys)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 5, 149514460: 149514460
49	PDGFRB	NM_002609.3(PDGFRB): c.2939G> A (p.Ser980Asn)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 5, 150117816: 150117816
50	PDGFRB	NM_002609.3(PDGFRB): c.2939G> A (p.Ser980Asn)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 5, 149497379: 149497379

Cosmic variations for Myofibromatosis, Infantile, 1:

⁹

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location
1	COSM584	NRAS	skin,trunk,benign melanocytic nevus,congenital	c.182A>G	p.Q61R	1:114713908-114713908
2	COSM580	NRAS	skin,trunk,benign melanocytic nevus,congenital	c.181C>A	p.Q61K	1:114713909-114713909
3	COSM28758	GNAQ	soft tissue,neck,haemangioma,congenital	c.626A>C	p.Q209P	9:77794572-77794572
4	COSM28757	GNAQ	soft tissue,neck,haemangioma,congenital	c.626A>T	p.Q209L	9:77794572-77794572
5	COSM476	BRAF	skin,trunk,benign melanocytic nevus,congenital	c.1799T>A	p.V600E	7:140753336-140753336

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Expression for Myofibromatosis, Infantile, 1

Search GEO for disease gene expression data for Myofibromatosis, Infantile, 1.

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Pathways for Myofibromatosis, Infantile, 1

Pathways related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	MicroRNAs in cancer ³⁸	11.43	NOTCH3 PDGFRB
2	Angiogenesis (CST) ⁴	10.57	NOTCH3 PDGFRB

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GO Terms for Myofibromatosis, Infantile, 1

Cellular components related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	focal adhesion	GO:0005925	8.96	ACTC1 PDGFRB
2	receptor complex	GO:0043235	8.62	NOTCH3 PDGFRB

Biological processes related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of smooth muscle cell proliferation	GO:0048661	8.96	NOTCH3 PDGFRB
2	cardiac myofibril assembly	GO:0055003	8.62	ACTC1 PDGFRB

Molecular functions related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	enzyme binding	GO:0019899	8.62	NOTCH3 PDGFRB

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Sources for Myofibromatosis, Infantile, 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Myofibromatosis, Infantile, 1 (IMF1)

Aliases & Classifications for Myofibromatosis, Infantile, 1

MalaCards integrated aliases for Myofibromatosis, Infantile, 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Myofibromatosis, Infantile, 1

Related Diseases for Myofibromatosis, Infantile, 1

Diseases in the Infantile Myofibromatosis family:

Diseases related to Myofibromatosis, Infantile, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Myofibromatosis, Infantile, 1:

Symptoms & Phenotypes for Myofibromatosis, Infantile, 1

Human phenotypes related to Myofibromatosis, Infantile, 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Myofibromatosis, Infantile, 1:

Drugs & Therapeutics for Myofibromatosis, Infantile, 1

Interventional clinical trials:

Cochrane evidence based reviews: myofibromatosis

Genetic Tests for Myofibromatosis, Infantile, 1

Genetic tests related to Myofibromatosis, Infantile, 1:

Anatomical Context for Myofibromatosis, Infantile, 1

MalaCards organs/tissues related to Myofibromatosis, Infantile, 1:

Publications for Myofibromatosis, Infantile, 1

Articles related to Myofibromatosis, Infantile, 1:

Genes for Myofibromatosis, Infantile, 1

Genes related to Myofibromatosis, Infantile, 1 (2 elite genes):

Variations for Myofibromatosis, Infantile, 1

UniProtKB/Swiss-Prot genetic disease variations for Myofibromatosis, Infantile, 1:

ClinVar genetic disease variations for Myofibromatosis, Infantile, 1:

Cosmic variations for Myofibromatosis, Infantile, 1:

Expression for Myofibromatosis, Infantile, 1

Pathways for Myofibromatosis, Infantile, 1

Pathways related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:

GO Terms for Myofibromatosis, Infantile, 1

Cellular components related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:

Biological processes related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:

Molecular functions related to Myofibromatosis, Infantile, 1 according to GeneCards Suite gene sharing:

Sources for Myofibromatosis, Infantile, 1