A Rare and Genetic Disease Search System : PubCaseFinder

FG syndrome type 1

Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (69.7%)	24715367	Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Isidor B, Lefebvre T, Le Vaillant C, Caillaud G, Faivre L, Jossic F, Joubert M, Winer N, Le Caignec C, Borck G, Pelet A, Amiel J, Toutain A, Ronce N, Raynaud M, Verloes A, David A. Am J Med Genet A. 2014;164A(7):1821-5. [ Show abstract ] [ Hide abstract ]
		Blepharophimosis Short humerus
		KAT6B KIF1BP MED12
		c\|SUB\|G\|3443\|A;RS#:387907360 p\|SUB\|R\|1148\|H;RS#:387907360 rs387907360
		Blepharophimosis Developmental Disabilities Genetic Association Studies Hirschsprung Disease Homo sapiens Infant, Newborn Male Mediator Complex Mutation Phenotype Sibling Syndrome
2 (60.4%)	27286923	Two male sibs with severe micrognathia and a missense variant in MED12. Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A. Eur J Med Genet. 2016;59(8):367-72. [ Show abstract ] [ Hide abstract ]
		Pierre-Robin sequence Micrognathia
		MED12
		c\|SUB\|G\|1862\|A p\|SUB\|R\|621\|Q
		Exons Genes, X-Linked Genetic Association Studies Genotype Homo sapiens Infant Male Mediator Complex Micrognathism Missense Mutation Phenotype Severity of Illness Index Sibling Single Nucleotide Polymorphism X-Ray Computed Tomography
3 (39.0%)	20981778 (2967396)	Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome). Graham JM Jr, Clark RD, Moeschler JB, Rogers RC. Am J Med Genet C Semin Med Genet. 2010;154C(4):477-85. [ Show abstract ] [ Hide abstract ]
		Macrocephaly
		MED12
		p\|SUB\|R\|961\|W;RS#:80338758 rs80338758
		Acrocallosal Syndrome Adult Age Factors Anus, Imperforate Behavior Constipation Homo sapiens Impulsive Behavior Intellectual Disability Male Mediator Complex Mental Retardation, X-Linked Mutation Phenotype Self-Injurious Behavior
4 (4.0%)	28544239	A novel variant in MED12 gene: Further delineation of phenotype. Narayanan DL, Phadke SR. Am J Med Genet A. 2017;173(8):2257-2260. [ Show abstract ] [ Hide abstract ]
		Intellectual disability
		MED12

		Anus, Imperforate Cell Proliferation Child, Preschool Constipation Craniofacial Abnormalities Face Genetic Association Studies Homo sapiens Intellectual Disability Male Marfan Syndrome Mediator Complex Mental Retardation, X-Linked
4 (4.0%)	27500536	De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? Caro-Llopis A, Rosello M, Orellana C, Oltra S, Monfort S, Mayo S, Martinez F. Pediatr Res. 2016;80(6):809-815. [ Show abstract ] [ Hide abstract ]
		Intellectual disability
		MED12 MED13L

		Amino Acid Substitution Child Codon, Nonsense DNA Mutational Analysis High-Throughput Nucleotide Sequencing Homo sapiens Intellectual Disability Male Mediator Complex Missense Mutation Mutant Proteins Mutation Phenotype Syndrome Young Adult
4 (4.0%)	20507344	A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). Rump P, Niessen RC, Verbruggen KT, Brouwer OF, de Raad M, Hordijk R. Clin Genet. 2011;79(2):183-8. [ Show abstract ] [ Hide abstract ]
		Intellectual disability
		MED12
		p\|SUB\|G\|958\|E;RS#:397515554 p\|SUB\|R\|961\|W;RS#:80338758 rs1292888378 rs1369442321 rs1556334519 rs1556334793 rs1556336534 rs1556337063 rs1556338747 rs1556340124 rs397515554 rs748064846 rs769232520 rs863223696
		Acrocallosal Syndrome Amino Acid Sequence Anus, Imperforate Constipation Homo sapiens Infant Male Mediator Complex Mental Retardation, X-Linked Molecular Sequence Data Mutation Sequence Alignment

1

Phenotype(s) retrieved from Orphanet

Total: 72

HPO ID	Term	Frequency
HP:0000023	Inguinal hernia	Frequent (79-30%)
HP:0000028	Cryptorchidism	Frequent (79-30%)
HP:0000047	Hypospadias	Frequent (79-30%)
HP:0000154	Wide mouth	Frequent (79-30%)
HP:0000218	High palate	Frequent (79-30%)
HP:0000256	Macrocephaly	Frequent (79-30%)
HP:0000269	Prominent occiput	Frequent (79-30%)
HP:0000272	Malar flattening	Frequent (79-30%)
HP:0000316	Hypertelorism	Frequent (79-30%)
HP:0000343	Long philtrum	Frequent (79-30%)
HP:0000347	Micrognathia	Frequent (79-30%)
HP:0000348	High forehead	Frequent (79-30%)
HP:0000378	Cupped ear	Frequent (79-30%)
HP:0000402	Stenosis of the external auditory canal	Frequent (79-30%)
HP:0000448	Prominent nose	Frequent (79-30%)
HP:0000475	Broad neck	Frequent (79-30%)
HP:0000486	Strabismus	Frequent (79-30%)
HP:0000494	Downslanted palpebral fissures	Frequent (79-30%)
HP:0000609	Optic nerve hypoplasia	Frequent (79-30%)
HP:0000678	Dental crowding	Frequent (79-30%)
HP:0000750	Delayed speech and language development	Frequent (79-30%)
HP:0000766	Abnormality of the sternum	Frequent (79-30%)
HP:0001263	Global developmental delay	Frequent (79-30%)
HP:0001317	Abnormal cerebellum morphology	Frequent (79-30%)
HP:0001357	Plagiocephaly	Frequent (79-30%)
HP:0001533	Slender build	Frequent (79-30%)
HP:0001622	Premature birth	Frequent (79-30%)
HP:0001631	Atrial septal defect	Frequent (79-30%)
HP:0001763	Pes planus	Frequent (79-30%)
HP:0001837	Broad toe	Frequent (79-30%)
HP:0002021	Pyloric stenosis	Frequent (79-30%)
HP:0002119	Ventriculomegaly	Frequent (79-30%)
HP:0002136	Broad-based gait	Frequent (79-30%)
HP:0002236	Frontal upsweep of hair	Frequent (79-30%)
HP:0002250	Abnormal large intestine morphology	Frequent (79-30%)
HP:0002307	Drooling	Frequent (79-30%)
HP:0002342	Intellectual disability, moderate	Frequent (79-30%)
HP:0002761	Generalized joint laxity	Frequent (79-30%)
HP:0004322	Short stature	Frequent (79-30%)
HP:0004492	Widely patent fontanelles and sutures	Frequent (79-30%)
HP:0004785	Malrotation of colon	Frequent (79-30%)
HP:0005852	Limited elbow extension and supination	Frequent (79-30%)
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	Frequent (79-30%)
HP:0008551	Microtia	Frequent (79-30%)
HP:0008935	Generalized neonatal hypotonia	Frequent (79-30%)
HP:0011090	Fused teeth	Frequent (79-30%)
HP:0012471	Thick vermilion border	Frequent (79-30%)
HP:0012506	Small pituitary gland	Frequent (79-30%)
HP:0000194	Open mouth	Occasional (29-5%)
HP:0000238	Hydrocephalus	Occasional (29-5%)
HP:0000331	Short chin	Occasional (29-5%)
HP:0000407	Sensorineural hearing impairment	Occasional (29-5%)
HP:0000453	Choanal atresia	Occasional (29-5%)
HP:0000722	Obsessive-compulsive behavior	Occasional (29-5%)
HP:0000954	Single transverse palmar crease	Occasional (29-5%)
HP:0000960	Sacral dimple	Occasional (29-5%)
HP:0001172	Abnormal thumb morphology	Occasional (29-5%)
HP:0001250	Seizures	Occasional (29-5%)
HP:0001363	Craniosynostosis	Occasional (29-5%)
HP:0001537	Umbilical hernia	Occasional (29-5%)
HP:0001634	Mitral valve prolapse	Occasional (29-5%)
HP:0001680	Coarctation of aorta	Occasional (29-5%)
HP:0002019	Constipation	Occasional (29-5%)
HP:0002020	Gastroesophageal reflux	Occasional (29-5%)
HP:0002023	Anal atresia	Occasional (29-5%)
HP:0002092	Pulmonary arterial hypertension	Occasional (29-5%)
HP:0005876	Progressive flexion contractures	Occasional (29-5%)
HP:0006101	Finger syndactyly	Occasional (29-5%)
HP:0007018	Attention deficit hyperactivity disorder	Occasional (29-5%)
HP:0009762	Facial wrinkling	Occasional (29-5%)
HP:0012433	Abnormal social behavior	Occasional (29-5%)
HP:0040022	Clinodactyly of the 2nd finger	Occasional (29-5%)

Phenotype(s) retrieved from case reports

Total: 1

HPO ID	Term	# of case reports
HP:0001249	Intellectual disability	2

Causative gene(s) retrieved from Orphanet

Total: 1

Gene Symbol	Gene Name	Entrez Gene ID
MED12	mediator complex subunit 12	9968