Disease Browser
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Parent Node: Craniofacial Abnormalities (D019465) | Parent Node: Marfan Syndrome (D008382) | Parent Node: Mental Retardation, X-Linked (D038901) | ..Starting node ..Lujan Fryns syndrome (C537724)
| Child Nodes:
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Sister Nodes: | ..Abidi X-linked mental retardation syndrome (C535556)
| ..Adrenoleukodystrophy (D000326) 4
| ..Aldred syndrome (C537046)
| ..Allan-Herndon-Dudley syndrome (C537047)
| ..Arena syndrome (C537428)
| ..Armfield X-Linked Mental Retardation Syndrome (C564551)
| ..Atkin syndrome (C538195)
| ..ATR-X syndrome (C538258)
| ..Borjeson-Forssman-Lehmann syndrome (C536575)
| ..Brooks-Wisniewski-Brown Syndrome (C563154)
| ..Chromosome Xp11.3 Deletion Syndrome (C564481)
| ..CK SYNDROME (OMIM:300831)
| ..Clark-Baraitser syndrome (C536208)
| ..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
| ..Coffin-Lowry Syndrome (D038921)
| ..Cowchock syndrome (C536450)
| ..Creatine deficiency, X-linked (C535598)
| ..Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (C566878)
| ..Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
| ..Fragile X Syndrome (D005600) 3
| ..Glycogen Storage Disease Type IIb (D052120)
| ..Lesch-Nyhan Syndrome (D007926) 1
| ..Lubs X-linked mental retardation syndrome (C537723)
| ..Lujan Fryns syndrome (C537724)
| ..MEHMO syndrome (C537451)
| ..Menkes Kinky Hair Syndrome (D007706) 1
| ..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
| ..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
| ..Mental retardation X-linked syndromic 7 (C537449)
| ..Mental retardation X-linked, South African type (C537450)
| ..Mental Retardation, X-Linked 1 (C567906)
| ..Mental retardation, X-linked 14 (C537454)
| ..Mental Retardation, X-Linked 16 (C563139)
| ..Mental Retardation, X-Linked 17 (C563140)
| ..Mental Retardation, X-Linked 19 (C563141)
| ..Mental Retardation, X-Linked 2 (C563135)
| ..Mental Retardation, X-Linked 20 (C563142)
| ..MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
| ..Mental Retardation, X-Linked 23 (C563144)
| ..Mental Retardation, X-Linked 3 (C563136)
| ..Mental Retardation, X-Linked 30 (C563146)
| ..Mental Retardation, X-Linked 31 (C563147)
| ..Mental Retardation, X-Linked 34 (C563148)
| ..Mental Retardation, X-Linked 42 (C564524)
| ..Mental Retardation, X-Linked 45 (C564503)
| ..Mental Retardation, X-Linked 46 (C564513)
| ..Mental Retardation, X-Linked 47 (C563151)
| ..MENTAL RETARDATION, X-LINKED 49 (OMIM:300114)
| ..Mental Retardation, X-Linked 50 (C564713)
| ..Mental Retardation, X-Linked 52 (C564502)
| ..Mental Retardation, X-Linked 53 (C564533)
| ..Mental Retardation, X-Linked 58 (C564566)
| ..Mental Retardation, X-Linked 59 (C564470)
| ..Mental Retardation, X-Linked 63 (C564522)
| ..Mental Retardation, X-Linked 72 (C564547)
| ..Mental Retardation, X-Linked 73 (C564528)
| ..Mental Retardation, X-Linked 77 (C564511)
| ..Mental Retardation, X-Linked 78 (C564489)
| ..Mental Retardation, X-Linked 79 (C566876)
| ..Mental Retardation, X-Linked 81 (C564515)
| ..Mental Retardation, X-Linked 82 (C564496)
| ..Mental Retardation, X-Linked 84 (C564501)
| ..Mental Retardation, X-Linked 89 (C564036)
| ..Mental Retardation, X-Linked 9 (C563137)
| ..Mental Retardation, X-Linked 91 (C564482)
| ..Mental Retardation, X-Linked 92 (C564483)
| ..Mental Retardation, X-Linked 93 (C567066)
| ..Mental Retardation, X-Linked 94 (C567479)
| ..Mental Retardation, X-Linked 95 (C567470)
| ..MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
| ..Mental Retardation, X-Linked Nonsyndromic (C564490)
| ..Mental Retardation, X-Linked, Syndromic 10 (C564560)
| ..Mental Retardation, X-Linked, Syndromic 13 (C566875)
| ..Mental Retardation, X-Linked, Syndromic 14 (C567063)
| ..Mental retardation, X-linked, syndromic 5 (C535773)
| ..Mental Retardation, X-Linked, Syndromic 9 (C567474)
| ..Mental Retardation, X-Linked, Syndromic, Jarid1c-Related (C564494)
| ..MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
| ..Mental Retardation, X-Linked, Syndromic, Ube2a-Related (C564069)
| ..Mental Retardation, X-Linked, Syp-Related (C567584)
| ..Mental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
| ..Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (C537456)
| ..Mental Retardation, X-Linked, with Epilepsy (C564516)
| ..Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency (C564712)
| ..Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (C563150)
| ..Mental Retardation, X-Linked, with Short Stature (C564527)
| ..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
| ..Mental Retardation, X-Linked, With Spasticity (C566877)
| ..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
| ..Microphthalmia, Syndromic 4 (C564457)
| ..Miles-Carpenter x-linked mental retardation syndrome (C537472)
| ..Mucopolysaccharidosis II (D016532)
| ..Opitz-Kaveggia syndrome (C537923)
| ..Orofaciodigital syndrome, Shashi type (C537135)
| ..Partington X-linked mental retardation syndrome (C536300)
| ..Plagiocephaly and X-linked mental retardation (C537512)
| ..Ppm-X Syndrome (C580387)
| ..Prieto X-linked mental retardation syndrome (C535274)
| ..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
| ..Renpenning syndrome 1 (C537761)
| ..Rett Syndrome (D015518) 5
| ..Roifman syndrome (C535866)
| ..Schimke X-linked mental retardation syndrome (C536630)
| ..Siderius X-linked mental retardation syndrome (C537333)
| ..Snyder Robinson syndrome (C536678)
| ..Stocco dos Santos syndrome (C537495)
| ..Tranebjaerg Svejgaard syndrome (C536978)
| ..Wilson-Turner X-linked mental retardation syndrome (C536708)
| ..Wittwer syndrome (C536737)
| ..X-linked mental retardation Gustavson type (C536759)
| ..X-linked mental retardation type Wittwer (C536760)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 6556 |
Name: | Lujan Fryns syndrome |
Definition: | |
Alternative IDs: | OMIM:309520 |
ParentIDs: | MESH:D008382|MESH:D019465|MESH:D038901 |
TreeNumbers: | C05.116.099.674/C537724 |C05.660.207/C537724 |C10.597.606.643.455/C537724 |C14.240.400.725/C537724 |C14.280.400.725/C537724 |C16.131.077.550/C537724 |C16.131.240.400.720/C537724 |C16.131.621.207/C537724 |C16.320.322.500/C537724 |C16.320.400.525/C537724 |C16.320.54 |
Synonyms: | Lujan-Fryns Syndrome |Lujan Syndrome |Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies |Mental retardation, X-linked, with marfanoid habitus |X-Linked Intellectual Deficit with Marfanoid |
Slim Mappings: | Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease |
Reference: |
MedGen: C537724
MeSH: C537724
OMIM: 309520;
Genes: MED12; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_005120.2(MED12):c.1849A>G (p.Thr617Ala) | 9968 | MED12 | Likely pathogenic;Uncertain significance | 765417606 | RCV000196612; RCV000199251; | N | MedGen:C0220769,OMIM:305450,SNOMED CT:49984004; MedGen:C0796022,OMIM:309520,ORPHA:776,SNOMED CT:422437002; MedGen:C3698541,OMIM:300895,ORPHA:293707; MedGen:CN169374 | X | 70344113 | 70344113 | NM_005120.2:c.1849A>G | NP_005111.2:p.Thr617Ala | NC_000023.10:g.70344113A>G | - | C0220769 305450 FG syndrome; CN169374 not specified; C3698541 300895 Ohdo syndrome, X-linked; C0796022 309520 X-linked mental retardation with marfanoid habitus syndrome | | | NM_005120.2(MED12):c.3020A>G (p.Asn1007Ser) | 9968 | MED12 | Pathogenic | 80338759 | RCV000012277; | N | MedGen:C0796022,OMIM:309520,ORPHA:776,SNOMED CT:422437002 | X | 70347781 | 70347781 | NM_005120.2:c.3020A>G | NP_005111.2:p.Asn1007Ser | NC_000023.10:g.70347781A>G | OMIM Allelic Variant:300188.0002 | C0796022 309520 X-linked mental retardation with marfanoid habitus syndrome | | |
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