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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: Eye Abnormalities (D005124)
Parent Node: Facies (D019066)
Parent Node: Intellectual Disability (D008607)
Parent Node: Limb Deformities, Congenital (D017880)
Parent Node: Microcephaly (D008831)
..Starting node ..Kaufman oculocerebrofacial syndrome (C537013)
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:

6033

Name:

Kaufman oculocerebrofacial syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D005124|MESH:D008607|MESH:D008831|MESH:D017880|MESH:D019066

TreeNumbers:

C05.660.207.620/C537013 |C05.660.585/C537013 |C10.500.507.400.500/C537013 |C10.597.606.643/C537013 |C11.250/C537013 |C16.131.384/C537013 |C16.131.621.207.620/C537013 |C16.131.621.585/C537013 |C16.131.666.507.400.500/C537013 |C23.550.291.812/C537013 |C23.888.592.60

Synonyms:

Slim Mappings:

Reference:

MedGen: C537013
MeSH: C537013
OMIM: 244450;

Genes: UBE3B;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001344	Absent speech	HP:0040284
3	HP:0000463	Anteverted nares	HP:0040284
4	HP:0001631	Atrial septal defect	HP:0040284
5	HP:0001591	Bell-shaped thorax
6	HP:0000581	Blepharophimosis	HP:0040284
7	HP:0000248	Brachycephaly
8	HP:0000670	Carious teeth
9	HP:0004209	Clinodactyly of the 5th finger	HP:0040284
10	HP:0008665	Clitoral hypertrophy
11	HP:0002019	Constipation	HP:0040284
12	HP:0005280	Depressed nasal bridge	HP:0040284
13	HP:0000699	Diastema
14	HP:0000286	Epicanthus
15	HP:0001508	Failure to thrive	HP:0040284
16	HP:0008872	Feeding difficulties in infancy	HP:0040284
17	HP:0000218	High palate	HP:0040284
18	HP:0000316	Hypertelorism	HP:0040284
19	HP:0003146	Hypocholesterolemia	HP:0040284
20	HP:0001252	Hypotonia
21	HP:0010864	Intellectual disability, severe	HP:0040284
22	HP:0006511	Laryngeal stridor
23	HP:0000276	Long face
24	HP:0011302	Long palm
25	HP:0000369	Low-set ears	HP:0040284
26	HP:0001840	Metatarsus adductus
27	HP:0000252	Microcephaly
28	HP:0000482	Microcornea
29	HP:0000347	Micrognathia	HP:0040284
30	HP:0001270	Motor delay	HP:0040284
31	HP:0008936	Muscular hypotonia of the trunk	HP:0040284
32	HP:0000545	Myopia
33	HP:0000275	Narrow face	HP:0040284
34	HP:0000160	Narrow mouth	HP:0040284
35	HP:0004283	Narrow palm
36	HP:0002643	Neonatal respiratory distress	HP:0040284
37	HP:0000639	Nystagmus	HP:0040284
38	HP:0000543	Optic disc pallor
39	HP:0003300	Ovoid vertebral bodies
40	HP:0000384	Preauricular skin tag	HP:0040284
41	HP:0000508	Ptosis	HP:0040284
42	HP:0002719	Recurrent infections	HP:0040284
43	HP:0003196	Short nose
44	HP:0000954	Single transverse palmar crease
45	HP:0000319	Smooth philtrum
46	HP:0000535	Sparse and thin eyebrow
47	HP:0008070	Sparse hair	HP:0040284
48	HP:0000486	Strabismus
49	HP:0000506	Telecanthus	HP:0040284
50	HP:0000963	Thin skin	HP:0040284
51	HP:0000219	Thin upper lip vermilion
52	HP:0000582	Upslanted palpebral fissure	HP:0040284

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_130466.3(UBE3B):c.1A>G (p.Met1Val)	89910	UBE3B	Pathogenic	672601304	RCV000149398;	N	MedGen:C1855663,OMIM:244450,ORPHA:2707	12	109921357	109921357	NM_130466.3:c.1A>G	NP_569733.2:p.Met1Val	NC_000012.11:g.109921357A>G	VariO:0052	C1855663 244450 Kaufman oculocerebrofacial syndrome
NM_130466.3(UBE3B):c.545-2A>G	89910	UBE3B	Pathogenic	398123022	RCV000043489;	N	MedGen:C1855663,OMIM:244450,ORPHA:2707	12	109927722	109927722	NM_130466.3:c.545-2A>G		NC_000012.11:g.109927722A>G	OMIM Allelic Variant:608047.0003	C1855663 244450 Kaufman oculocerebrofacial syndrome
NM_183415.2(UBE3B):c.1741+2T>C	89910	UBE3B	Pathogenic	398123020	RCV000043487;	N	MedGen:C1855663,OMIM:244450,ORPHA:2707	12	109947521	109947521	NM_183415.2:c.1741+2T>C		NC_000012.11:g.109947521T>C	OMIM Allelic Variant:608047.0001	C1855663 244450 Kaufman oculocerebrofacial syndrome
NM_130466.3(UBE3B):c.1773delC (p.Gln592Serfs)	89910	UBE3B	Pathogenic	672601305	RCV000149398;	N	MedGen:C1855663,OMIM:244450,ORPHA:2707	12	109948180	109948180	NM_130466.3:c.1773delC	NP_569733.2:p.Gln592Serfs	NC_000012.11:g.109921357A>G	VariO:0008	C1855663 244450 Kaufman oculocerebrofacial syndrome
NM_130466.3(UBE3B):c.2180A>C (p.Gln727Pro)	89910	UBE3B	Pathogenic	398123023	RCV000043490;	N	MedGen:C1855663,OMIM:244450,ORPHA:2707	12	109959056	109959056	NM_130466.3:c.2180A>C	NP_569733.2:p.Gln727Pro	NC_000012.11:g.109959056A>C	OMIM Allelic Variant:608047.0004	C1855663 244450 Kaufman oculocerebrofacial syndrome
NM_130466.3(UBE3B):c.2223_2224delAG (p.Arg741Serfs)	89910	UBE3B	Pathogenic	398123021	RCV000043488;	N	MedGen:C1855663,OMIM:244450,ORPHA:2707	12	109959099	109959100	NM_130466.3:c.2223_2224delAG	NP_569733.2:p.Arg741Serfs	NC_000012.11:g.109959099_109959100delAG	OMIM Allelic Variant:608047.0002	C1855663 244450 Kaufman oculocerebrofacial syndrome