MSeqDR Mitochondrial Disease Portal


 
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Diseases (C)
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Growth Disorders (D006130)
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Hypogonadism (D007006)
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Mental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
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Muscular Atrophy (D009133)
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Tremor (D014202)
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MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)

       Child Nodes:



 Sister Nodes: 
..expandFragile X Tremor Ataxia Syndrome (C564105)
..expandGeniospasm (C537682)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
..expandPrimary orthostatic tremor (C536418)
..expandTremor hereditary essential, 2 (C536546)
..expandTremor of Intention, Ataxia, and Lipofuscinosis (C566038)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7800
Name:MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
Definition:
Alternative IDs:DO:DOID:0060822
ParentIDs:MESH:C567069|MESH:D006130|MESH:D007006|MESH:D009133|MESH:D014202
TreeNumbers:C10.597.350.850/300354 |C10.597.606.360.455/C567069/300354 |C10.597.613.612/300354 |C16.320.322.500/C567069/300354 |C16.320.400.525/C567069/300354 |C19.391.482/300354 |C23.300.070.500/300354 |C23.550.393/300354 |C23.888.592.350.850/300354 |C23.888.592.608.612/300
Synonyms:CABEZAS SYNDROME |MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 |MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE |MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT |MRSS |MRXS15 |MRXSC
Slim Mappings:Endocrine system disease|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Signs and symptoms
Reference: MedGen: 300354
MeSH: 300354
OMIM: 300354;
MSeqDR LSDB:  
Genes: CUL4B;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0012743Abdominal obesityHP:0040284
3 HP:0003011Abnormality of the musculature
4 HP:0000377Abnormality of the pinna
5 HP:0001344Absent speech
6 HP:0000718Aggressive behaviorHP:0040284
7 HP:0001156BrachydactylyHP:0040283
8 HP:0006855Cerebellar vermis atrophyHP:0040283
9 HP:0000280Coarse facial features
10 HP:0002539Cortical dysplasiaHP:0040283
11 HP:0009879Cortical gyral simplificationHP:0040283
12 HP:0000028Cryptorchidism
13 HP:0008734Decreased testicular sizeHP:0040284
14 HP:0000823Delayed puberty
NAMDC:  Prolonged pubertal growth spurt
15 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
HP:0040284
16 HP:0005280Depressed nasal bridge
17 HP:0008944Distal lower limb amyotrophyHP:0040284
18 HP:0002066Gait ataxiaHP:0040284
19 HP:0001290Generalized hypotonia
20 HP:0000771GynecomastiaHP:0040284
21 HP:0000348High forehead
22 HP:0000752Hyperactivity
23 HP:0000135Hypogonadism
NAMDC:  Hypoparathyroidism
24 HP:0002079Hypoplasia of the corpus callosumHP:0040283
25 HP:0000047Hypospadias
26 HP:0001249Intellectual disability
27 HP:0001388Joint laxity
28 HP:0002808Kyphosis
29 HP:0000158Macroglossia
30 HP:0000303Mandibular prognathia
31 HP:0000054Micropenis
32 HP:0000720Mood swings
33 HP:0001270Motor delayHP:0040284
34 HP:0001761Pes cavus
35 HP:0001763Pes planusHP:0040284
36 HP:0002126PolymicrogyriaHP:0040283
37 HP:0004482Relative macrocephaly
38 HP:0001250Seizures
NAMDC:  Seizures
HP:0040284 Infantile onset
39 HP:0001773Short footHP:0040284
40 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
41 HP:0200055Small hand
42 HP:0001065Striae distensae
43 HP:0000179Thick lower lip vermilionHP:0040284
44 HP:0001337TremorHP:0040284
45 HP:0002119Ventriculomegaly
46 HP:0000154Wide mouth
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_003588.3(CUL4B):c.2688G>A (p.Arg896=)8450CUL4BBenignrs143580749RCV000615115|RCV000640930; NMedGen:CN169374|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119660670119660670CTX:g.119660670C>TClinGen:CA10505393CN169374 not specified;
NM_003588.3(CUL4B):c.2577G>C (p.Lys859Asn)8450CUL4BUncertain significancers1556181426RCV000515477; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119664026119664026CGX:g.119664026C>GClinGen:CA414192914C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=)8450CUL4BBenignrs185389157RCV000893153; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119670866119670866CTX:g.119670866C>T-
NM_003588.3(CUL4B):c.1911C>T (p.Cys637=)8450CUL4BBenign/Likely benignrs148700620RCV000175044|RCV000600141|RCV000711343|RCV000718729; NMedGen:CN169374|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293|MedGen:CN517202|MedGen:C2711754X119672060119672060GAX:g.119672060G>AClinGen:CA201270CN169374 not specified;
NM_003588.3(CUL4B):c.1906+1G>T8450CUL4BPathogenicrs797044862RCV000190824; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119672514119672514CAX:g.119672514C>AClinGen:CA358351,OMIM:300304.0005
NM_001079872.2(CUL4B):c.1741+4_1741+7del8450CUL4BLikely pathogenicrs1569389364RCV000770976; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119673116119673119ATACTAX:g.119673116_119673119del-
NM_001079872.2(CUL4B):c.1738T>C (p.Tyr580His)8450CUL4BUncertain significance-1RCV001056755; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119673126119673126AGX:g.119673126A>G-
NM_003588.3(CUL4B):c.1736_1737del (p.Thr579fs)8450CUL4BPathogenicrs1057519396RCV000417055; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119673181119673182CTGCX:g.119673181_119673182delClinGen:CA16044367
NM_003588.3(CUL4B):c.1714C>T (p.Arg572Cys)8450CUL4BPathogenicrs121434615RCV000012091; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119673204119673204GAX:g.119673204G>AOMIM:300304.0001,ClinGen:CA214661,UniProtKB:Q13620#VAR_032274C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.1428G>A (p.Trp476Ter)8450CUL4BLikely pathogenic-1RCV001253208; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119675472119675472CTX:g.119675472C>T-
NM_003588.3(CUL4B):c.1458_1459del (p.Val487fs)8450CUL4BPathogenicrs1556206910RCV000627044; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119675495119675496ACTAX:g.119675495_119675496delClinGen:CA658799848C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter)8450CUL4BLikely pathogenicrs905353542RCV000824885; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119675504119675504GAX:g.119675504G>A-
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs)8450CUL4BPathogenicrs1602577238RCV000990935; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119675514119675514TGTX:g.119675514_119675514del-
NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter)8450CUL4BPathogenicrs121434616RCV000012092|RCV000415116; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype OntX119678034119678034GAX:g.119678034G>AClinGen:CA214662,OMIM:300304.0002C0424503 Abnormal facial shape;
NM_003588.3(CUL4B):c.1160A>G (p.Gln387Arg)8450CUL4BUncertain significancers1556213268RCV000546039; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119678036119678036TCX:g.119678036T>CClinGen:CA414198602C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.995T>C (p.Ile332Thr)8450CUL4BUncertain significance-1RCV001089951; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119678424119678424AGX:g.119678424A>G-
NM_003588.3(CUL4B):c.1007_1011del (p.Ile336fs)8450CUL4BPathogenicrs1085307760RCV000489216|RCV000590902; NMedGen:CN517202|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119678462119678466TTATAATX:g.119678462_119678466delClinGen:CA645294134CN517202 not provided;
NM_001079872.1(CUL4B):c.951_953TAT[1] (p.Ile319del)8450CUL4BUncertain significancers1556214312RCV000640927; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119678463119678465TATATX:g.119678463_119678465delClinGen:CA658799849C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)8450CUL4BLikely pathogenic-1RCV001270368; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119678496119678498TCCGGTNC_000023.10:g.119678496_119678498delinsGGT-
NM_003588.3(CUL4B):c.943G>A (p.Val315Ile)8450CUL4BUncertain significancers367660624RCV000800231; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119679330119679330CTX:g.119679330C>T-
NM_003588.3(CUL4B):c.901-2A>G8450CUL4BPathogenicrs786200913RCV000012093; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119679374119679374TCX:g.119679374T>CClinGen:CA214664,OMIM:300304.0003
NM_003588.3(CUL4B):c.901-10del8450CUL4BBenignrs762094686RCV000480729|RCV000640929|RCV001081350; NMedGen:CN169374|MedGen:CN517202|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119679382119679382GAGX:g.119679382_119679382delClinGen:CA10505618CN169374 not specified;
NM_003588.3(CUL4B):c.423_431del8450CUL4BConflicting interpretations of pathogenicityrs754330779RCV000599361|RCV001045420; NMedGen:CN517202|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119694117119694125TGAGGAGGAGTX:g.119694117_119694125delClinGen:CA10505704CN517202 not provided;
NM_003588.3(CUL4B):c.373C>G (p.Leu125Val)8450CUL4BUncertain significancers760294805RCV000640926; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119694175119694175GCX:g.119694175G>CClinGen:CA10505713C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_003588.3(CUL4B):c.348G>T (p.Gln116His)8450CUL4BUncertain significancers755306871RCV000532515|RCV001252215; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype OntX119694200119694200CAX:g.119694200C>AClinGen:CA10505718C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_003588.3(CUL4B):c.149C>T (p.Pro50Leu)8450CUL4BPathogenicrs869320682RCV000190825; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119694399119694399GAX:g.119694399G>AClinGen:CA358848,OMIM:300304.0006C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_003588.3(CUL4B):c.117A>T (p.Arg39Ser)8450CUL4BUncertain significancers757541076RCV000558589; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119694431119694431TAX:g.119694431T>AClinGen:CA10505743
NM_001079872.2(CUL4B):c.53A>G (p.Gln18Arg)8450CUL4BUncertain significance-1RCV001232844; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119694441119694441TCX:g.119694441T>C-
MSeqDR Portal