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Hello! Guest! Please Login or Register! Clinician Mode

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: Holoprosencephaly (D016142)
..Starting node ..Holoprosencephaly 2 (C563579)
Child Nodes:
Sister Nodes:
..Cyclopia (C562573)
..Demyer Sequence (C567614)
..Dysgnathia complex (C537996)
..Genoa syndrome (C537684)
..Holoprosencephaly 1 (C565514)
..Holoprosencephaly 10 (C567278)
..Holoprosencephaly 2 (C563579)
..Holoprosencephaly 3 (C564181)
..Holoprosencephaly 4 (C564180)
..Holoprosencephaly 5 (C566464)
..Holoprosencephaly 6 (C565274)
..Holoprosencephaly 7 (C563660)
..Holoprosencephaly 8 (C563723)
..Holoprosencephaly 9 (C563659)
..Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence (C564409)
..Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate (C564484)
..Holoprosencephaly, recurrent infections, and monocytosis (C538328)
..Lambotte syndrome (C537549)
..Microgastria limb reduction defect (C537554)
..Nonsyndromic Holoprosencephaly (C580335)
..Pseudotrisomy 13 syndrome (C535829)
..Steinfeld Syndrome (C566655)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5241

Name:

Holoprosencephaly 2

Definition:

Alternative IDs:

OMIM:157170

ParentIDs:

MESH:D016142

TreeNumbers:

C05.660.207.410/C563579 |C10.500.034.875/C563579 |C16.131.077.410/C563579 |C16.131.260.380/C563579 |C16.131.621.207.410/C563579 |C16.131.666.034.875/C563579 |C16.320.180.380/C563579

Synonyms:

HPE2

Slim Mappings:

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

Reference:

MedGen: C563579
MeSH: C563579
OMIM: 157170;

Genes: SIX3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005273	Absent nasal septal cartilage
3	HP:0000835	Adrenal hypoplasia
4	HP:0001274	Agenesis of corpus callosum
5	HP:0010626	Anterior pituitary agenesis
6	HP:0009927	Aplasia of the nose
7	HP:0000193	Bifid uvula
8	HP:0001321	Cerebellar hypoplasia
9	HP:0002019	Constipation
10	HP:0009914	Cyclopia
11	HP:0000873	Diabetes insipidus
12	HP:0001290	Generalized hypotonia
13	HP:0001263	Global developmental delay
14	HP:0001425	Heterogeneous
15	HP:0001360	Holoprosencephaly
16	HP:0000601	Hypotelorism
17	HP:0001252	Hypotonia
18	HP:0003829	Incomplete penetrance
19	HP:0001249	Intellectual disability
20	HP:0000272	Malar flattening
21	HP:0008501	Median cleft lip and palate
22	HP:0000252	Microcephaly
23	HP:0000568	Microphthalmia
24	HP:0011800	Midface retrusion
25	HP:0002650	Scoliosis
26	HP:0001250	Seizure
27	HP:0006315	Solitary median maxillary central incisor
28	HP:0003745	Sporadic
29	HP:0000176	Submucous cleft hard palate
30	HP:0003828	Variable expressivity

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_005413.3(SIX3):c.90G>T (p.Ala30=)	6496	SIX3	Benign	78018362	RCV000055692;	N	MedGen:C1834877,OMIM:157170	2	45169333	45169333	NM_005413.3:c.90G>T	NP_005404.1:p.Ala30=	NC_000002.11:g.45169333G>T	-	C1834877 157170 Holoprosencephaly 2
NM_005413.3(SIX3):c.109G>T (p.Gly37Cys)	6496	SIX3	Likely benign;Pathogenic	199823175	RCV000023330; RCV000171135; RCV000023331; RCV000173372;	N	MedGen:C0266484,OMIM:269160,ORPHA:799,SNOMED CT:253159001; MedGen:C1834877,OMIM:157170; MedGen:C1840235,OMIM:147250,ORPHA:2286; MedGen:CN169374	2	45169352	45169352	NM_005413.3:c.109G>T	NP_005404.1:p.Gly37Cys	NC_000002.11:g.45169352G>T	OMIM Allelic Variant:603714.0009	C1834877 157170 Holoprosencephaly 2; CN169374 not specified; C0266484 269160 SCHIZENCEPHALY; C1840235 147250 Single upper central incisor
NM_005413.3(SIX3):c.206G>A (p.Gly69Asp)	6496	SIX3	Pathogenic	121917881	RCV000006471;	N	MedGen:C1834877,OMIM:157170	2	45169449	45169449	NM_005413.3:c.206G>A	NP_005404.1:p.Gly69Asp	NC_000002.11:g.45169449G>A	OMIM Allelic Variant:603714.0006	C1834877 157170 Holoprosencephaly 2
NM_005413.3(SIX3):c.219C>T (p.Pro73=)	6496	SIX3	Benign	186163123	RCV000055680;	N	MedGen:C1834877,OMIM:157170	2	45169462	45169462	NM_005413.3:c.219C>T	NP_005404.1:p.Pro73=	NC_000002.11:g.45169462C>T	-	C1834877 157170 Holoprosencephaly 2
NM_005413.3(SIX3):c.339G>T (p.Trp113Cys)	6496	SIX3	Pathogenic	137853021	RCV000006472;	N	MedGen:C1834877,OMIM:157170	2	45169582	45169582	NM_005413.3:c.339G>T	NP_005404.1:p.Trp113Cys	NC_000002.11:g.45169582G>T	OMIM Allelic Variant:603714.0007	C1834877 157170 Holoprosencephaly 2
NM_005413.3(SIX3):c.385G>T (p.Glu129Ter)	6496	SIX3	Pathogenic	387906867	RCV000023328; RCV000023329;	N	MedGen:C0266484,OMIM:269160,ORPHA:799,SNOMED CT:253159001; MedGen:C1834877,OMIM:157170	2	45169628	45169628	NM_005413.3:c.385G>T	NP_005404.1:p.Glu129Ter	NC_000002.11:g.45169628G>T	OMIM Allelic Variant:603714.0008	C1834877 157170 Holoprosencephaly 2; C0266484 269160 SCHIZENCEPHALY
NM_005413.3(SIX3):c.576C>T (p.Arg192=)	6496	SIX3	Benign	182881	RCV000055687;	N	MedGen:C1834877,OMIM:157170	2	45169819	45169819	NM_005413.3:c.576C>T	NP_005404.1:p.Arg192=	NC_000002.11:g.45169819C>T	-	C1834877 157170 Holoprosencephaly 2
NM_005413.3(SIX3):c.676C>G (p.Leu226Val)	6496	SIX3	Pathogenic	121917878	RCV000006466;	N	MedGen:C1834877,OMIM:157170	2	45169919	45169919	NM_005413.3:c.676C>G	NP_005404.1:p.Leu226Val	NC_000002.11:g.45169919C>G	OMIM Allelic Variant:603714.0001	C1834877 157170 Holoprosencephaly 2
NM_005413.3(SIX3):c.696_705delCCCCAGCAAG (p.Asn232Lysfs)	6496	SIX3	Pathogenic	397515502	RCV000055688;	N	MedGen:C1834877,OMIM:157170	2	45169939	45169948	NM_005413.3:c.696_705delCCCCAGCAAG	NP_005404.1:p.Asn232Lysfs	NC_000002.11:g.45169939_45169948delCCCCAGCAAG	-	C1834877 157170 Holoprosencephaly 2
NM_005413.3(SIX3):c.749T>C (p.Val250Ala)	6496	SIX3	Pathogenic	121917880	RCV000006468;	N	MedGen:C1834877,OMIM:157170	2	45169992	45169992	NM_005413.3:c.749T>C	NP_005404.1:p.Val250Ala	NC_000002.11:g.45169992T>C	OMIM Allelic Variant:603714.0003	C1834877 157170 Holoprosencephaly 2
NM_005413.3(SIX3):c.770G>C (p.Arg257Pro)	6496	SIX3	Pathogenic	121917879	RCV000006467;	N	MedGen:C1834877,OMIM:157170	2	45170013	45170013	NM_005413.3:c.770G>C	NP_005404.1:p.Arg257Pro	NC_000002.11:g.45170013G>C	OMIM Allelic Variant:603714.0002	C1834877 157170 Holoprosencephaly 2