MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Dwarfism (D004392)
Parent Node: Microcephaly (D008831)
..Starting node ..Seckel syndrome 2 (C537534)
Child Nodes:
Sister Nodes:
..Absent Eyebrows and Eyelashes with Mental Retardation (C563111)
..Achalasia microcephaly (C536010)
..Agammaglobulinemia, microcephaly, and severe dermatitis (C538055)
..AL-RAQAD SYNDROME (OMIM:616459)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Amish lethal microcephaly (C538247) L: 00112;
..Anonychia, Total, with Microcephaly (C564606)
..Aphalangia syndactyly microcephaly (C537787)
..ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
..Ataxia-Microcephaly-Cataract Syndrome (C563086)
..Autosomal Recessive Primary Microcephaly (C579935)
..Baetz-Greenwalt syndrome (C537795)
..Baraitser Brett Piesowicz syndrome (C537905)
..BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
..Battaglia Neri syndrome (C537662)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Bixler Christian Gorlin syndrome (C537632)
..Boudhina Yedes Khiari syndrome (C537939)
..Brachydactyly, Type A2, With Microcephaly (C565894)
..Branchial arch syndrome X-linked (C537102)
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..CAMFAK syndrome (C537965)
..Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..Chromosomal Instability with Tissue-Specific Radiosensitivity (C565848)
..Chromosome 15q26-Qter Deletion Syndrome (C567232)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..CK SYNDROME (OMIM:300831)
..Cohen syndrome (C536438)
..Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities (C565667)
..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..Dubowitz syndrome (C535718)
..Ellis Yale Winter syndrome (C536205)
..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
..Filippi syndrome (C538152)
..FORSYTHE-WAKELING SYNDROME (OMIM:613606)
..Galloway Mowat syndrome (C537548)
..GOMBO syndrome (C537284)
..Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..Hadziselimovic Syndrome (C567850)
..Halal syndrome (C535622)
..Hersh Podruch Weisskopk syndrome (C538114)
..Hoyeraal Hreidarsson syndrome (C536068)
..Hypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
..Hypospadias-Mental Retardation Syndrome (C563067)
..Jejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..Jorgenson Lenz syndrome (C536292)
..Kaufman oculocerebrofacial syndrome (C537013)
..Lambotte syndrome (C537549)
..LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
..LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
..Lissencephaly 3 (C566908)
..LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
..Lowry Wood syndrome (C537038)
..Lymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..MacDermot Winter syndrome (C537714)
..MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
..Marfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
..MEHMO syndrome (C537451)
..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..Mental Retardation, X-Linked, Syndromic 9 (C567474)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..Microcephalic osteodysplastic primordial dwarfism, type 3 (C537320)
..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..Microcephalic primordial dwarfism Toriello type (C537321)
..MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
..MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615414)
..MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616080)
..MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
..MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616402)
..MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616486)
..MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
..MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
..MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614673)
..MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614852)
..Microcephaly albinism digital anomalies syndrome (C537322)
..Microcephaly autosomal dominant (C537323)
..Microcephaly cervical spine fusion anomalies (C537325)
..Microcephaly deafness syndrome (C537326)
..Microcephaly microphthalmos blindness (C537541)
..Microcephaly nonsyndromal (C537542)
..Microcephaly pontocerebellar hypoplasia dyskinesia (C537543)
..Microcephaly seizures genital hypoplasia (C537540)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly sparse hair mental retardation seizures (C537545)
..Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia (C565381)
..Microcephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..Microcephaly with Mental Retardation and Digital Anomalies (C567101)
..Microcephaly with Simplified Gyral Pattern (C566332)
..Microcephaly with spastic quadriplegia (C537546)
..MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
..Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
..Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..Microcephaly, Macrotia, And Mental Retardation (C566525)
..Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..Microcephaly, Primary Autosomal Recessive, 1 (C565384)
..Microcephaly, Primary Autosomal Recessive, 2 (C565794)
..Microcephaly, Primary Autosomal Recessive, 3 (C565746)
..Microcephaly, Primary Autosomal Recessive, 4 (C565792)
..Microcephaly, Primary Autosomal Recessive, 5 (C563871)
..Microcephaly, Primary Autosomal Recessive, 5, with Simplified Gyral Pattern (C567221)
..Microcephaly, Primary Autosomal Recessive, 6 (C564247)
..Microcephaly, Primary Autosomal Recessive, 7 (C567198)
..MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects (C566377)
..MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
..MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
..MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
..MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
..Microcephaly-Micromelia Syndrome (C565382)
..Microhydranencephaly (C537555)
..Microphthalmia and mental deficiency (C537462)
..Milner Khallouf Gibson syndrome (C537473)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Mowat-Wilson syndrome (C536990)
..Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..Neu Laxova syndrome (C536405)
..Nijmegen Breakage Syndrome-Like Disorder (C567767)
..Oculodigitoesophagoduodenal syndrome (C537734)
..Oculopalatocerebral Syndrome (C564935)
..Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..Paine syndrome (C538101)
..Partington Anderson syndrome (C536299)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..Porencephaly (D065708) 1
..PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
..Raine syndrome (C535282)
..RAJAB SYNDROME (OMIM:613658)
..Sammartino De Crecchio Syndrome (C537229)
..Say Barber Miller syndrome (C536618)
..Say syndrome (C536621)
..Schimke X-linked mental retardation syndrome (C536630)
..Seckel syndrome 1 (C537533)
..Seckel syndrome 2 (C537534)
..Seckel Syndrome 3 (C563881)
..SECKEL SYNDROME 4 (OMIM:613676)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Seemanova Lesny syndrome (C537536)
..SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
..Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970)
..Silengo Lerone Pelizza syndrome (C537336)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..Teebi Kaurah syndrome (C536948)
..Trichodental syndrome (C536551)
..Tsukahara Syndrome (C566376)
..Warburg Sjo Fledelius syndrome (C536681)
..Warburton Anyane Yeboa syndrome (C536682)
..WEBB-DATTANI SYNDROME (OMIM:615926)
..Winship Viljoen Leary syndrome (C536711)
..YOU-HOOVER-FONG SYNDROME (OMIM:616954)
..Zerres Rietschel Majewski syndrome (C536724)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

11095

Name:

Seckel syndrome 2

Definition:

Alternative IDs:

OMIM:606744

ParentIDs:

MESH:D004392|MESH:D008831

TreeNumbers:

C05.116.099.343/C537534 |C05.660.207.620/C537534 |C10.500.507.400.500/C537534 |C16.131.621.207.620/C537534 |C16.131.666.507.400.500/C537534 |C16.320.240/C537534 |C19.297/C537534

Synonyms:

Bird-headed dwarfism 2 |Microcephalic primordial dwarfism 2 |SCKL2 |Seckel-type dwarfism 2

Slim Mappings:

Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C537534
MeSH: C537534
OMIM: 606744;
MSeqDR :
Genes: RBBP8;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001321	Cerebellar hypoplasia
3	HP:0004209	Clinodactyly of the 5th finger
4	HP:0000086	Ectopic kidney	HP:0040283
5	HP:0007429	Few cafe-au-lait spots
6	HP:0001510	Growth delay NAMDC: Growth delay
7	HP:0030148	Heart murmur
8	HP:0001620	High pitched voice	HP:0040284
9	HP:0000047	Hypospadias
10	HP:0000252	Microcephaly
11	HP:0000691	Microdontia
12	HP:0000171	Microglossia
13	HP:0000347	Micrognathia
14	HP:0000568	Microphthalmia
15	HP:0011342	Mild global developmental delay
16	HP:0000341	Narrow forehead
17	HP:0000448	Prominent nose
18	HP:0001518	Small for gestational age

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter)	5932	RBBP8	Likely pathogenic	762396810	RCV000429695\|RCV002272237;	N	MedGen:CN517202\|MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744, Orphanet:808	18	20526436	20526436	18:g.20526436C>T	ClinGen:CA8909703	CN517202 not provided;
NM_002894.3(RBBP8):c.293A>G (p.His98Arg)	5932	RBBP8	Uncertain significance	146649234	RCV001867436\|RCV002482558\|RCV002550420;	N	MedGen:C3661900\|MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744, Orphanet:808; MONDO:MONDO:0009622,MedGen:C0796063,OMIM:251255, Orphanet:313795\|MeSH:D030342,MedGen:C0950123	18	20548813	20548813	20548813	-
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp)	5932	RBBP8	Conflicting interpretations of pathogenicity	373804633	RCV000115043\|RCV001818257\|RCV002490771\|RCV002470768;	N	MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744, Orphanet:808\|MedGen:CN169374\|MONDO:MONDO:0009622,MedGen:C0796063,OMIM:251255, Orphanet:313795; MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744, Orphanet:808\|MONDO:MONDO:0009622,MedGen:C0796063,OMIM:251255,Orp	18	20548818	20548818	NC_000018.9:g.20548818C>T	ClinGen:CA151432,UniProtKB:Q99708#VAR_075824,OMIM:604124.0004	C1847572 606744 Seckel syndrome 2;
NM_002894.3(RBBP8):c.428+6T>C	5932	RBBP8	Uncertain significance	-1	RCV002776565;	N	MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744, Orphanet:808	18	20555188	20555188	NC_000018.9:g.20555188T>C	-
NM_002894.3(RBBP8):c.428+37T>C	5932	RBBP8	Benign	2336916	RCV000833231\|RCV001796268\|RCV001796269;	N	MedGen:C3661900\|MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744, Orphanet:808\|MONDO:MONDO:0009622,MedGen:C0796063,OMIM:251255, Orphanet:313795	18	20555219	20555219	18:g.20555219T>C	-
NM_002894.3(RBBP8):c.604+1G>T	5932	RBBP8	Conflicting interpretations of pathogenicity	587780432	RCV000118129\|RCV002514585;	N	MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744, Orphanet:808\|MedGen:CN517202	18	20562357	20562357	NC_000018.9:g.20562357G>T	ClinGen:CA154888	C1847572 606744 Seckel syndrome 2;
NM_002894.3(RBBP8):c.605-48TCA[2]	5932	RBBP8	Benign	3052770	RCV001674872\|RCV001796682\|RCV001796683;	N	MedGen:C3661900\|MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744, Orphanet:808\|MONDO:MONDO:0009622,MedGen:C0796063,OMIM:251255, Orphanet:313795	18	20564801	20564803	20564800	-
NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala)	5932	RBBP8	Benign/Likely benign	34372414	RCV000903562\|RCV002487437;	N	MedGen:C3661900\|MONDO:MONDO:0009622,MedGen:C0796063,OMIM:251255, Orphanet:313795; MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744, Orphanet:808	18	20569210	20569210	18:g.20569210C>G	ClinGen:CA8909925	C0796063 251255 Microcephaly with mental retardation and digital anomalies;
NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro)	5932	RBBP8	Uncertain significance	369234115	RCV002020843\|RCV002548814\|RCV002486719;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009622,MedGen:C0796063,OMIM:251255, Orphanet:313795; MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744, Orphanet:808	18	20573799	20573799	20573799	-
NM_002894.3(RBBP8):c.1939+20del	5932	RBBP8	Uncertain significance	757282598	RCV001983699\|RCV002507761;	N	MedGen:C3661900\|MONDO:MONDO:0009622,MedGen:C0796063,OMIM:251255, Orphanet:313795; MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744, Orphanet:808	18	20573829	20573829	20573828	-
NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter)	5932	RBBP8	Likely pathogenic	2045882525	RCV002244119;	N	MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744, Orphanet:808; MONDO:MONDO:0009622,MedGen:C0796063,OMIM:251255, Orphanet:313795	18	20577602	20577602	20577602	-
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=)	5932	RBBP8	Benign	17852769	RCV000118135\|RCV001795178\|RCV001795179\|RCV001682822;	N	MedGen:CN169374\|MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744, Orphanet:808\|MONDO:MONDO:0009622,MedGen:C0796063,OMIM:251255, Orphanet:313795\|MedGen:C3661900	18	20577669	20577669	18:g.20577669G>A	ClinGen:CA154895	C0796063 251255 Microcephaly with mental retardation and digital anomalies;
NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys)	5932	RBBP8	Uncertain significance	148713374	RCV001335994\|RCV001865841\|RCV001820030\|RCV002486342;	N	MONDO:MONDO:0009622,MedGen:C0796063,OMIM:251255, Orphanet:313795\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0009622,MedGen:C0796063,OMIM:251255, Orphanet:313795; MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744, Orphanet:808	18	20581551	20581551	20581551	-
NM_002894.3(RBBP8):c.2287+53T>G	5932	RBBP8	Pathogenic	587776883	RCV000023361;	N	MONDO:MONDO:0011715,MedGen:C1847572,OMIM:606744, Orphanet:808	18	20581745	20581745	NC_000018.9:g.20581745T>G	ClinGen:CA129192,OMIM:604124.0002	C1847572 606744 Seckel syndrome 2;

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