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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Dwarfism (D004392)
Parent Node: Microcephaly (D008831)
..Starting node ..Seckel syndrome 1 (C537533)
Child Nodes:
Sister Nodes:
..Absent Eyebrows and Eyelashes with Mental Retardation (C563111)
..Achalasia microcephaly (C536010)
..Agammaglobulinemia, microcephaly, and severe dermatitis (C538055)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Amish lethal microcephaly (C538247)
..Anonychia, Total, with Microcephaly (C564606)
..Aphalangia syndactyly microcephaly (C537787)
..Ataxia-Microcephaly-Cataract Syndrome (C563086)
..Autosomal Recessive Primary Microcephaly (C579935)
..Baetz-Greenwalt syndrome (C537795)
..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..Baraitser Brett Piesowicz syndrome (C537905)
..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)
..Lissencephaly 3 (C566908)
..Lowry Wood syndrome (C537038)
..Lymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..MacDermot Winter syndrome (C537714)
..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 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 Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..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, 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-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)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
..Porencephaly (D065708) 1
..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)
..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)
..Winship Viljoen Leary syndrome (C536711)
..Zerres Rietschel Majewski syndrome (C536724)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10096

Name:

Seckel syndrome 1

Definition:

Alternative IDs:

OMIM:210600

ParentIDs:

MESH:D004392|MESH:D008831

TreeNumbers:

C05.116.099.343/C537533 |C05.660.207.620/C537533 |C10.500.507.400.500/C537533 |C16.131.621.207.620/C537533 |C16.131.666.507.400.500/C537533 |C16.320.240/C537533 |C19.297/C537533

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C537533
MeSH: C537533
OMIM: 210600;

Genes: ATR;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000878	11 pairs of ribs
3	HP:0006143	Abnormal finger flexion creases
4	HP:0000377	Abnormality of the pinna
5	HP:0001090	Abnormally large globe
6	HP:0000581	Blepharophimosis
7	HP:0001320	Cerebellar vermis hypoplasia
8	HP:0000175	Cleft palate
9	HP:0004209	Clinodactyly of the 5th finger
10	HP:0008665	Clitoral hypertrophy
11	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
12	HP:0000444	Convex nasal ridge
13	HP:0000028	Cryptorchidism
14	HP:0002750	Delayed skeletal maturation
15	HP:0000678	Dental crowding
16	HP:0000689	Dental malocclusion
17	HP:0003083	Dislocated radial head
18	HP:0000494	Downslanted palpebral fissures
19	HP:0002987	Elbow flexion contracture
20	HP:0006297	Enamel hypoplasia
21	HP:0000324	Facial asymmetry
22	HP:0000218	High palate
23	HP:0002827	Hip dislocation
24	HP:0000752	Hyperactivity
25	HP:0006442	Hypoplasia of proximal fibula
26	HP:0006434	Hypoplasia of proximal radius
27	HP:0000047	Hypospadias
28	HP:0001249	Intellectual disability
29	HP:0001511	Intrauterine growth retardation
30	HP:0010583	Ivory epiphyses
31	HP:0007048	Large basal ganglia
32	HP:0000369	Low-set ears
33	HP:0000252	Microcephaly
34	HP:0000347	Micrognathia
35	HP:0001302	Pachygyria
36	HP:0001876	Pancytopenia
37	HP:0001763	Pes planus
38	HP:0008897	Postnatal growth retardation
39	HP:0000448	Prominent nose
40	HP:0003508	Proportionate short stature
41	HP:0001852	Sandal gap
42	HP:0002650	Scoliosis
43	HP:0001250	Seizure
44	HP:0001592	Selective tooth agenesis
45	HP:0000954	Single transverse palmar crease
46	HP:0000340	Sloping forehead
47	HP:0000237	Small anterior fontanelle
48	HP:0000486	Strabismus
49	HP:0001883	Talipes

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
NM_001184.3(ATR):c.7725G>A (p.Ala2575=)	545	ATR	Uncertain significance	587783340	RCV000145332;	N	MedGen:CN033164,OMIM:210600	3	142172006	142172006	NM_001184.3:c.7725G>A	NP_001175.2:p.Ala2575=	NC_000003.11:g.142172006C>T	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.7041+4G>C	545	ATR	Uncertain significance	113544835	RCV000145329;	N	MedGen:CN033164,OMIM:210600	3	142183935	142183935	NM_001184.3:c.7041+4G>C		NC_000003.11:g.142183935C>G	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.6961T>C (p.Phe2321Leu)	545	ATR	Uncertain significance	587783338	RCV000145328;	N	MedGen:CN033164,OMIM:210600	3	142184019	142184019	NM_001184.3:c.6961T>C	NP_001175.2:p.Phe2321Leu	NC_000003.11:g.142184019A>G	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.6897+464C>G	545	ATR	Pathogenic	587777852	RCV000144693;	N	MedGen:CN033164,OMIM:210600	3	142184702	142184702	NM_001184.3:c.6897+464C>G		NC_000003.11:g.142184702G>C	OMIM Allelic Variant:601215.0005	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.6394T>G (p.Tyr2132Asp)	545	ATR	Uncertain significance	28910273	RCV000145327;	N	MedGen:CN033164,OMIM:210600	3	142188337	142188337	NM_001184.3:c.6394T>G	NP_001175.2:p.Tyr2132Asp	NC_000003.11:g.142188337A>C	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.5739-14G>T	545	ATR	Uncertain significance	587783335	RCV000145322;	N	MedGen:CN033164,OMIM:210600	3	142215376	142215376	NM_001184.3:c.5739-14G>T		NC_000003.11:g.142215376C>A	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.5732A>G (p.Asn1911Ser)	545	ATR	Uncertain significance	587783334	RCV000145321;	N	MedGen:CN033164,OMIM:210600	3	142215861	142215861	NM_001184.3:c.5732A>G	NP_001175.2:p.Asn1911Ser	NC_000003.11:g.142215861T>C	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.5635G>T (p.Asp1879Tyr)	545	ATR	Pathogenic	387907327	RCV000034827;	N	MedGen:CN033164,OMIM:210600	3	142215958	142215958	NM_001184.3:c.5635G>T	NP_001175.2:p.Asp1879Tyr	NC_000003.11:g.142215958C>A	OMIM Allelic Variant:601215.0003	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.4641+15C>T	545	ATR	Uncertain significance	200619976	RCV000145313;	N	MedGen:CN033164,OMIM:210600	3	142232328	142232328	NM_001184.3:c.4641+15C>T		NC_000003.11:g.142232328G>A	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.4641+1G>T	545	ATR	Pathogenic	797045403	RCV000193414;	N	MedGen:CN033164,OMIM:210600	3	142232342	142232342	NM_001184.3:c.4641+1G>T		NC_000003.11:g.142232342C>A	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.4351C>T (p.Arg1451Trp)	545	ATR	Uncertain significance	148064542	RCV000145311;	N	MedGen:CN033164,OMIM:210600	3	142238542	142238542	NM_001184.3:c.4351C>T	NP_001175.2:p.Arg1451Trp	NC_000003.11:g.142238542G>A	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.4306A>G (p.Asn1436Asp)	545	ATR	Uncertain significance	587783328	RCV000145310;	N	MedGen:CN033164,OMIM:210600	3	142238587	142238587	NM_001184.3:c.4306A>G	NP_001175.2:p.Asn1436Asp	NC_000003.11:g.142238587T>C	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.3799G>A (p.Val1267Ile)	545	ATR	Uncertain significance	377689383	RCV000145306;	N	MedGen:CN033164,OMIM:210600	3	142254970	142254970	NM_001184.3:c.3799G>A	NP_001175.2:p.Val1267Ile	NC_000003.11:g.142254970C>T	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.3477G>T (p.Met1159Ile)	545	ATR	Pathogenic	587777851	RCV000144692;	N	MedGen:CN033164,OMIM:210600	3	142259850	142259850	NM_001184.3:c.3477G>T	NP_001175.2:p.Met1159Ile	3:g.142259850C>A	OMIM Allelic Variant:601215.0004	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.3424A>G (p.Ser1142Gly)	545	ATR	Uncertain significance	149008479	RCV000145303;	N	MedGen:CN033164,OMIM:210600	3	142261533	142261533	NM_001184.3:c.3424A>G	NP_001175.2:p.Ser1142Gly	NC_000003.11:g.142261533T>C	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.2844A>C (p.Ala948=)	545	ATR	Uncertain significance	147286949	RCV000145299;	N	MedGen:CN033164,OMIM:210600	3	142269106	142269106	NM_001184.3:c.2844A>C	NP_001175.2:p.Ala948=	NC_000003.11:g.142269106T>G	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.2688G>A (p.Leu896=)	545	ATR	Uncertain significance	117926957	RCV000145298;	N	MedGen:CN033164,OMIM:210600	3	142272186	142272186	NM_001184.3:c.2688G>A	NP_001175.2:p.Leu896=	NC_000003.11:g.142272186C>T	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.2290A>G (p.Lys764Glu)	545	ATR	Uncertain significance	77208665	RCV000145296;	N	MedGen:CN033164,OMIM:210600	3	142274770	142274770	NM_001184.3:c.2290A>G	NP_001175.2:p.Lys764Glu	NC_000003.11:g.142274770T>C	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.2022A>G (p.Gly674=)	545	ATR	Pathogenic	587776690	RCV000008805;	N	MedGen:CN033164,OMIM:210600	3	142275281	142275281	NM_001184.3:c.2022A>G	NP_001175.2:p.Gly674=	3:g.142275281T>C	OMIM Allelic Variant:601215.0001	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.1350-3T>C	545	ATR	Uncertain significance	587783323	RCV000145290;	N	MedGen:CN033164,OMIM:210600	3	142279299	142279299	NM_001184.3:c.1350-3T>C		NC_000003.11:g.142279299A>G	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.483A>G (p.Arg161=)	545	ATR	Uncertain significance	182268224	RCV000145316;	N	MedGen:CN033164,OMIM:210600	3	142281761	142281761	NM_001184.3:c.483A>G	NP_001175.2:p.Arg161=	NC_000003.11:g.142281761T>C	-	CN033164 210600 Seckel syndrome 1
NM_001184.3(ATR):c.423T>C (p.Ile141=)	545	ATR	Uncertain significance	10935466	RCV000145309;	N	MedGen:CN033164,OMIM:210600	3	142281821	142281821	NM_001184.3:c.423T>C	NP_001175.2:p.Ile141=	NC_000003.11:g.142281821A>G	-	CN033164 210600 Seckel syndrome 1