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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: Diseases (C)
Parent Node: Dysostoses (D004413)
Parent Node: Frontonasal dysplasia (C538065)
Parent Node: Hypertelorism (D006972)
..Starting node ..FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Child Nodes:
Sister Nodes:
..Acrootoocular Syndrome (C564866)
..Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..Bagatelle Cassidy syndrome (C537796)
..Barber Say syndrome (C537908)
..Brachycephalofrontonasal dysplasia (C537085)
..Camptodactyly Syndrome, Guadalajara, Type II (C567138)
..Camptodactyly Syndrome, Guadalajara, Type III (C567455)
..Chromosome 6pter-P24 Deletion Syndrome (C567239)
..De Hauwere Leroy Adriaenssens syndrome (C535991)
..Facial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..FRONTONASAL DYSPLASIA 1 (OMIM:136760)
..FRONTONASAL DYSPLASIA 2 (OMIM:613451)
..FRONTONASAL DYSPLASIA 3 (OMIM:613456)
..Gastrocutaneous syndrome (C535651)
..Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
..Hypertelorism and tetralogy of Fallot (C538386)
..Hypertelorism with esophageal abnormality and hypospadias (C538387)
..HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
..Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
..Krauss Herman Holmes syndrome (C537618)
..Marles Greenberg Persaud syndrome (C536022)
..Naguib-Richieri-Costa syndrome (C538332)
..Opitz GBBB Syndrome, X-Linked (C567932)
..Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
..Roberts Syndrome (C535687)
..Santos Mateus Leal syndrome (C537235)
..Schwartz-Lelek syndrome (C537519)
..Seaver Cassidy syndrome (C537529)
..Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4430

Name:

FRONTONASAL DYSPLASIA 1

Definition:

Alternative IDs:

ParentIDs:

MESH:C538065|MESH:D004413|MESH:D006972

TreeNumbers:

C05.116.099.370/136760 |C05.116.099.370.231.480/136760 |C05.660.207.231.480/136760 |C05.660.207/C538065/136760 |C16.131.621.207.231.480/136760 |C16.131.621.207/C538065/136760

Synonyms:

FND |FND1 |FNM |FRONTONASAL DYSPLASIA |FRONTONASAL MALFORMATION |FRONTORHINY |MEDIAN FACIAL CLEFT SYNDROME

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: 136760
MeSH: 136760
OMIM: 136760;

Genes: ALX3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001274	Agenesis of corpus callosum
3	HP:0006992	Anterior basal encephalocele
4	HP:0000456	Bifid nasal tip
5	HP:0001156	Brachydactyly
6	HP:0000455	Broad nasal tip
7	HP:0012385	Camptodactyly
8	HP:0000518	Cataract
9	HP:0030084	Clinodactyly
10	HP:0000589	Coloboma
11	HP:0000405	Conductive hearing impairment
12	HP:0004423	Cranium bifidum occultum
13	HP:0000286	Epicanthus
14	HP:0007541	Frontal cutaneous lipoma
15	HP:0000316	Hypertelorism
16	HP:0000327	Hypoplasia of the maxilla
17	HP:0002738	Hypoplastic frontal sinuses
18	HP:0001249	Intellectual disability
19	HP:0009473	Joint contracture of the hand
20	HP:0000369	Low-set ears
21	HP:0000161	Median cleft lip
22	HP:0009099	Median cleft palate
23	HP:0000568	Microphthalmia
24	HP:0005258	Pectoral muscle hypoplasia/aplasia
25	HP:0006931	Pericallosal lipoma
26	HP:0001162	Postaxial hand polydactyly
27	HP:0000384	Preauricular skin tag
28	HP:0000508	Ptosis
29	HP:0009466	Radial deviation of finger
30	HP:0002000	Short columella
31	HP:0003745	Sporadic
32	HP:0001636	Tetralogy of Fallot
33	HP:0000431	Wide nasal bridge
34	HP:0001566	Widely-spaced maxillary central incisors
35	HP:0000349	Widow's peak

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_006492.2(ALX3):c.608A>G (p.Asn203Ser)	257	ALX3	Pathogenic	121908166	RCV000004906;	N	MedGen:C1876203,OMIM:136760,ORPHA:391474	1	110604172	110604172	NM_006492.2:c.608A>G	NP_006483.2:p.Asn203Ser	NC_000001.10:g.110604172T>C	OMIM Allelic Variant:606014.0002	C1876203 136760 Frontonasal dysplasia 1
NM_006492.2(ALX3):c.586C>T (p.Arg196Trp)	257	ALX3	Pathogenic	121908170	RCV000004911;	N	MedGen:C1876203,OMIM:136760,ORPHA:391474	1	110607217	110607217	NM_006492.2:c.586C>T	NP_006483.2:p.Arg196Trp	NC_000001.10:g.110607217G>A	OMIM Allelic Variant:606014.0007	C1876203 136760 Frontonasal dysplasia 1
NM_006492.2(ALX3):c.578_581delCTGA (p.Thr193Argfs)	257	ALX3	Pathogenic	387906319	RCV000004910;	N	MedGen:C1876203,OMIM:136760,ORPHA:391474	1	110607222	110607225	NM_006492.2:c.578_581delCTGA	NP_006483.2:p.Thr193Argfs	NC_000001.10:g.110607222_110607225delTCAG	OMIM Allelic Variant:606014.0006	C1876203 136760 Frontonasal dysplasia 1
NM_006492.2(ALX3):c.547C>T (p.Arg183Trp)	257	ALX3	Pathogenic	121908168	RCV000004908;	N	MedGen:C1876203,OMIM:136760,ORPHA:391474	1	110607256	110607256	NM_006492.2:c.547C>T	NP_006483.2:p.Arg183Trp	NC_000001.10:g.110607256G>A	OMIM Allelic Variant:606014.0004	C1876203 136760 Frontonasal dysplasia 1
NM_006492.2(ALX3):c.543T>A (p.Tyr181Ter)	257	ALX3	Pathogenic	121908169	RCV000004909;	N	MedGen:C1876203,OMIM:136760,ORPHA:391474	1	110607260	110607260	NM_006492.2:c.543T>A	NP_006483.2:p.Tyr181Ter	NC_000001.10:g.110607260A>T	OMIM Allelic Variant:606014.0005	C1876203 136760 Frontonasal dysplasia 1
NM_006492.2(ALX3):c.502C>G (p.Leu168Val)	257	ALX3	Pathogenic	121908167	RCV000004907;	N	MedGen:C1876203,OMIM:136760,ORPHA:391474	1	110607301	110607301	NM_006492.2:c.502C>G	NP_006483.2:p.Leu168Val	NC_000001.10:g.110607301G>C	OMIM Allelic Variant:606014.0003	C1876203 136760 Frontonasal dysplasia 1