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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: Abnormalities, Multiple (D000015)
Parent Node: Eye Abnormalities (D005124)
..Starting node ..Fraser Syndrome (D058497)
Child Nodes:
Sister Nodes:
..Ablepharon macrostomia syndrome (C535557)
..Aniridia (D015783) 10
..Ankyloblepharon filiforme adnatum cleft palate (C536373)
..Anophthalmos (D000853) 8
..Anterior segment mesenchymal dysgenesis (C537775)
..Asymmetric Short Stature Syndrome (C566248)
..Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..Axenfeld-Rieger syndrome (C535679) 3
..Blepharophimosis (D016569) 17
..Blue diaper syndrome (C536239)
..Brachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
..Chemke Oliver Mallek syndrome (C535922)
..Chromosome 6pter-P24 Deletion Syndrome (C567239)
..CODAS syndrome (C536434)
..Cole Carpenter syndrome (C535963)
..Coloboma (D003103) 43
..Craniosynostosis with Ocular Abnormalities and Hallucal Defects (C564263)
..Cryptophthalmos, Unilateral or Bilateral, Isolated (C565138)
..Dwarfism stiff joint ocular abnormalities (C535724)
..Ectopia Lentis (D004479) 13
..FACES syndrome (C536384)
..Foveal Hypoplasia and Anterior Segment Dysgenesis (C563774)
..Fraser Syndrome (D058497)
..Fronto-facio-nasal dysplasia (C538063)
..Frontoocular Syndrome (C565340)
..Goniodysgenesis-Mental Retardation-Short Stature Syndrome (C564214)
..Hay-Wells syndrome (C535847)
..Hydrophthalmos (D006871)
..Iridogoniodysgenesis and skeletal anomalies (C535534)
..Iridogoniodysgenesis type1 (C535535)
..Iridogoniodysgenesis, dominant type (C535536)
..Jejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..Joubert syndrome 1 (C536293)
..Joubert syndrome 2 (C536294)
..Joubert Syndrome 9 (C567364)
..Kapur Toriello syndrome (C537008)
..Kaufman oculocerebrofacial syndrome (C537013)
..Macrophthalmia, Colobomatous, with Microcornea (C566533)
..Maxillofacial Dysostosis (C563599)
..Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (C565405)
..Microcornea, glaucoma, and absent frontal sinuses (C537552)
..Microphthalmos (D008850) 57
..MOMES Syndrome (C564660)
..Nephrotic syndrome ocular anomalies (C536403)
..Nephrotic Syndrome, Congenital, with or without Ocular Abnormalities (C563805)
..Oculoauricular Syndrome (C567416)
..Oculoauriculofrontonasal syndrome (C537865)
..Oculocerebrocutaneous syndrome (C538088)
..Oculodentodigital Dysplasia (C563160)
..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
..Oculomaxillofacial dysostosis (C537736)
..Oculopalatocerebral Syndrome (C564935)
..Oculopalatoskeletal syndrome (C537738)
..Oculorenocerebellar syndrome (C537739)
..Pena Shokeir syndrome Type 2 (C536646)
..Persistent Hyperplastic Primary Vitreous (D054514)
..Persistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
..Peters anomaly (C537884)
..PHACE association (C537892)
..Pierson syndrome (C537185)
..Popliteal Pterygium Syndrome (C562509)
..Popliteal Pterygium Syndrome, Lethal Type (C564874)
..Prepapillary Vascular Loops (C563287)
..Pupil, Egg-Shaped (C566731)
..Pupillary Membrane, Persistence Of (C562700)
..Retinal Dysplasia (D015792) 2
..Rieger syndrome 2 (C535680)
..Rozin Hertz Goodman syndrome (C535876)
..Torsion dystonia with onset in infancy (C536969)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4409

Name:

Fraser Syndrome

Definition:

Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.

Alternative IDs:

OMIM:219000

ParentIDs:

MESH:D000015|MESH:D005124

TreeNumbers:

C11.250.390 |C16.131.077.371 |C16.131.384.442

Synonyms:

Cryptophthalmos Syndactyly Syndrome |Cryptophthalmos-Syndactyly Syndrome |Cryptophthalmos-Syndactyly Syndromes |Cryptophthalmos with Other Malformations |CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME, INCLUDED |Syndrome, Cryptop

Slim Mappings:

Congenital abnormality|Eye disease

Reference:

MedGen: D058497
MeSH: D058497
OMIM: 219000;

Genes: FRAS1; FREM2; GRIP1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002536	Abnormal cortical gyration
3	HP:0001627	Abnormal heart morphology
4	HP:0001551	Abnormal umbilicus morphology
5	HP:0004378	Abnormality of the anus
6	HP:0000377	Abnormality of the pinna
7	HP:0002244	Abnormality of the small intestine
8	HP:0000777	Abnormality of the thymus
9	HP:0002223	Absent eyebrow
10	HP:0000561	Absent eyelashes
11	HP:0000528	Anophthalmia
12	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
13	HP:0006714	Aplasia/Hypoplasia of the sternum
14	HP:0009601	Aplasia/Hypoplasia of the thumb
15	HP:0000413	Atresia of the external auditory canal
16	HP:0000813	Bicornuate uterus
17	HP:0007633	Bilateral microphthalmos
18	HP:0000618	Blindness
19	HP:0001362	Calvarial skull defect
20	HP:0000452	Choanal stenosis
21	HP:0003191	Cleft ala nasi
22	HP:0000175	Cleft palate
23	HP:0000204	Cleft upper lip
24	HP:0008665	Clitoral hypertrophy
25	HP:0000405	Conductive hearing impairment
26	HP:0007957	Corneal opacity
27	HP:0001126	Cryptophthalmos
28	HP:0000028	Cryptorchidism
29	HP:0000378	Cupped ear
30	HP:0010554	Cutaneous finger syndactyly
31	HP:0000678	Dental crowding
32	HP:0000689	Dental malocclusion
33	HP:0005280	Depressed nasal bridge
34	HP:0000183	Difficulty in tongue movements
35	HP:0002084	Encephalocele
36	HP:0005325	Extension of hair growth on temples to lateral eyebrow
37	HP:0002006	Facial cleft
38	HP:0000238	Hydrocephalus
39	HP:0000316	Hypertelorism
40	HP:0008559	Hypoplastic superior helix
41	HP:0000047	Hypospadias
42	HP:0001249	Intellectual disability
43	HP:0007925	Lacrimal duct aplasia
44	HP:0008750	Laryngeal atresia
45	HP:0001602	Laryngeal stenosis
46	HP:0005950	Laryngeal web
47	HP:0000369	Low-set ears
48	HP:0007993	Malformed lacrimal duct
49	HP:0000252	Microcephaly
50	HP:0000054	Micropenis
51	HP:0004112	Midline nasal groove
52	HP:0008609	Morphological abnormality of the middle ear
53	HP:0002475	Myelomeningocele
54	HP:0002089	Pulmonary hypoplasia
55	HP:0000089	Renal hypoplasia
56	HP:0008678	Renal hypoplasia/aplasia
57	HP:0005352	Severe T-cell immunodeficiency
58	HP:0001607	Subglottic stenosis
59	HP:0000430	Underdeveloped nasal alae
60	HP:0000636	Upper eyelid coloboma
61	HP:0000148	Vaginal atresia
62	HP:0006610	Wide intermamillary distance
63	HP:0000431	Wide nasal bridge
64	HP:0000445	Wide nose
65	HP:0003183	Wide pubic symphysis

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_025074.6(FRAS1):c.370C>T (p.Arg124Ter)	80144	FRAS1	Pathogenic	377046630	RCV000178998;	N	MedGen:C0265233,OMIM:219000,ORPHA:2052,SNOMED CT:204102004	4	79173606	79173606	NM_025074.6:c.370C>T	NP_079350.5:p.Arg124Ter	NC_000004.11:g.79173606C>T	-	C0265233 219000 Cryptophthalmos syndrome
NM_025074.6(FRAS1):c.1931delG (p.Gly644Valfs)	80144	FRAS1	Pathogenic	794727195	RCV000175234;	N	MedGen:C0265233,OMIM:219000,ORPHA:2052,SNOMED CT:204102004	4	79238633	79238633	NM_025074.6:c.1931delG	NP_079350.5:p.Gly644Valfs	NC_000004.11:g.79238633delG	-	C0265233 219000 Cryptophthalmos syndrome
NM_025074.6(FRAS1):c.2722+1G>A	80144	FRAS1	Pathogenic	794727365	RCV000176329;	N	MedGen:C0265233,OMIM:219000,ORPHA:2052,SNOMED CT:204102004	4	79285209	79285209	NM_025074.6:c.2722+1G>A		NC_000004.11:g.79285209G>A	-	C0265233 219000 Cryptophthalmos syndrome
NM_025074.6(FRAS1):c.3370dupT (p.Ser1124Phefs)	80144	FRAS1	Pathogenic	797044696	RCV000176767;	N	MedGen:C0265233,OMIM:219000,ORPHA:2052,SNOMED CT:204102004	4	79300957	79300957	NM_025074.6:c.3370dupT	NP_079350.5:p.Ser1124Phefs	NC_000004.11:g.79300957dupT	-	C0265233 219000 Cryptophthalmos syndrome
NM_025074.6(FRAS1):c.3799C>T (p.Gln1267Ter)	80144	FRAS1	Pathogenic	120074158	RCV000002946;	N	MedGen:C0265233,OMIM:219000,ORPHA:2052,SNOMED CT:204102004	4	79308679	79308679	NM_025074.6:c.3799C>T	NP_079350.5:p.Gln1267Ter	NC_000004.11:g.79308679C>T	OMIM Allelic Variant:607830.0004	C0265233 219000 Cryptophthalmos syndrome
NM_025074.6(FRAS1):c.4271C>G (p.Ser1424Ter)	80144	FRAS1	Pathogenic	120074159	RCV000002947;	N	MedGen:C0265233,OMIM:219000,ORPHA:2052,SNOMED CT:204102004	4	79328958	79328958	NM_025074.6:c.4271C>G	NP_079350.5:p.Ser1424Ter	NC_000004.11:g.79328958C>G	OMIM Allelic Variant:607830.0005	C0265233 219000 Cryptophthalmos syndrome
NM_025074.6(FRAS1):c.5419_5424delTTCTCT (p.Phe1807_Ser1808del)	80144	FRAS1	Pathogenic	730882178	RCV000002948;	N	MedGen:C0265233,OMIM:219000,ORPHA:2052,SNOMED CT:204102004	4	79360108	79360113	NM_025074.6:c.5419_5424delTTCTCT	NP_079350.5:p.Phe1807_Ser1808del	NC_000004.11:g.79360108_79360113delTTCTCT	OMIM Allelic Variant:607830.0006	C0265233 219000 Cryptophthalmos syndrome
NM_025074.6(FRAS1):c.6963_6964dupGG (p.Val2322Glyfs)	80144	FRAS1	Pathogenic	730882179	RCV000002949;	N	MedGen:C0265233,OMIM:219000,ORPHA:2052,SNOMED CT:204102004	4	79385671	79385672	NM_025074.6:c.6963_6964dupGG	NP_079350.5:p.Val2322Glyfs	NC_000004.11:g.79385671_79385672dupGG	OMIM Allelic Variant:607830.0007	C0265233 219000 Cryptophthalmos syndrome
NM_025074.6(FRAS1):c.7522+1G>T	80144	FRAS1	Pathogenic	730882180	RCV000002950;	N	MedGen:C0265233,OMIM:219000,ORPHA:2052,SNOMED CT:204102004	4	79393485	79393485	NM_025074.6:c.7522+1G>T		NC_000004.11:g.79393485G>T	OMIM Allelic Variant:607830.0008	C0265233 219000 Cryptophthalmos syndrome
NM_025074.6(FRAS1):c.8602C>T (p.Gln2868Ter)	80144	FRAS1	Pathogenic	120074156	RCV000002943;	N	MedGen:C0265233,OMIM:219000,ORPHA:2052,SNOMED CT:204102004	4	79403116	79403116	NM_025074.6:c.8602C>T	NP_079350.5:p.Gln2868Ter	NC_000004.11:g.79403116C>T	OMIM Allelic Variant:607830.0001	C0265233 219000 Cryptophthalmos syndrome
NM_025074.6(FRAS1):c.9013C>T (p.Gln3005Ter)	80144	FRAS1	Pathogenic	120074157	RCV000002944;	N	MedGen:C0265233,OMIM:219000,ORPHA:2052,SNOMED CT:204102004	4	79418013	79418013	NM_025074.6:c.9013C>T	NP_079350.5:p.Gln3005Ter	NC_000004.11:g.79418013C>T	OMIM Allelic Variant:607830.0002	C0265233 219000 Cryptophthalmos syndrome
NM_207361.5(FREM2):c.5914G>A (p.Glu1972Lys)	341640	FREM2	Pathogenic	121434356	RCV000002064;	N	MedGen:C0265233,OMIM:219000,ORPHA:2052,SNOMED CT:204102004	13	39358840	39358840	NM_207361.5:c.5914G>A	NP_997244.4:p.Glu1972Lys	NC_000013.10:g.39358840G>A	OMIM Allelic Variant:608945.0003	C0265233 219000 Cryptophthalmos syndrome
NM_207361.5(FREM2):c.5920G>A (p.Glu1974Lys)	341640	FREM2	Pathogenic	121434355	RCV000002062;	N	MedGen:C0265233,OMIM:219000,ORPHA:2052,SNOMED CT:204102004	13	39358846	39358846	NM_207361.5:c.5920G>A	NP_997244.4:p.Glu1974Lys	NC_000013.10:g.39358846G>A	OMIM Allelic Variant:608945.0001	C0265233 219000 Cryptophthalmos syndrome
NM_021150.3(GRIP1):c.2113+1G>C	23426	GRIP1	Pathogenic	397514485	RCV000030648;	N	MedGen:C0265233,OMIM:219000,ORPHA:2052,SNOMED CT:204102004	12	66786456	66786456	NM_021150.3:c.2113+1G>C		NC_000012.11:g.66786456C>G	OMIM Allelic Variant:604597.0001	C0265233 219000 Cryptophthalmos syndrome
NM_021150.3(GRIP1):c.1181_1184delAAGA (p.Lys394Thrfs)	23426	GRIP1	Pathogenic	397514486	RCV000030649;	N	MedGen:C0265233,OMIM:219000,ORPHA:2052,SNOMED CT:204102004	12	66849203	66849206	NM_021150.3:c.1181_1184delAAGA	NP_066973.2:p.Lys394Thrfs	NC_000012.11:g.66849203_66849206delTCTT	OMIM Allelic Variant:604597.0002	C0265233 219000 Cryptophthalmos syndrome