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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: Intellectual Disability (D008607)
Parent Node: Micrognathism (D008844)
..Starting node ..Cerebrocostomandibular Syndrome (C562538)
Child Nodes:
Sister Nodes:
..Baetz-Greenwalt syndrome (C537795)
..Bird headed dwarfism Montreal type (C535448)
..Cerebral Cavernous Malformations 2 (C566394)
..Cerebral Cavernous Malformations 3 (C566393)
..Cerebrocostomandibular Syndrome (C562538)
..Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia (C565729)
..Coffin-Siris syndrome (C536436)
..Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (C564509)
..Crumpled helices and small mouth (C536217)
..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..Genee-Wiedemann syndrome (C537680)
..Genito palato cardiac syndrome (C537683)
..Ho Kaufman Mcalister syndrome (C538325)
..Limb Deficiencies, Distal, with Micrognathia (C565437)
..Meier-Gorlin syndrome (C538012)
..Milner Khallouf Gibson syndrome (C537473)
..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..Schweitzer Kemink Graham syndrome (C536511)
..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..Yunis Varon syndrome (C536719)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1959

Name:

Cerebrocostomandibular Syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D008607|MESH:D008844

TreeNumbers:

C05.500.460.457/C562538 |C05.660.207.540.460.457/C562538 |C07.320.440.457/C562538 |C07.650.500.460.457/C562538 |C10.597.606.643/C562538 |C16.131.621.207.540.460.457/C562538 |C16.131.850.500.460.457/C562538 |C23.888.592.604.646/C562538 |F03.550.600/C562538

Synonyms:

CCM Syndrome |Cerebrocostomandibular-Like Syndrome |Rib Gap Defects with Micrognathia

Slim Mappings:

Reference:

MedGen: C562538
MeSH: C562538
OMIM: 117650;

Genes: SNRPB;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0000878	11 pairs of ribs
4	HP:0000164	Abnormality of the dentition
5	HP:0002025	Anal stenosis	HP:0040283
6	HP:0006593	Anomalous rib insertion to vertebrae
7	HP:0004468	Anomalous tracheal cartilage
8	HP:0001545	Anteriorly placed anus	HP:0040283
9	HP:0001631	Atrial septal defect
10	HP:0001591	Bell-shaped thorax
11	HP:0004695	Calcaneal epiphyseal stippling
12	HP:0000185	Cleft soft palate
13	HP:0004209	Clinodactyly of the 5th finger
14	HP:0000405	Conductive hearing impairment
15	HP:0001374	Congenital hip dislocation
16	HP:0000086	Ectopic kidney
17	HP:0002987	Elbow flexion contracture
18	HP:0000286	Epicanthus
19	HP:0002020	Gastroesophageal reflux
20	HP:0000162	Glossoptosis
21	HP:0000218	High palate
22	HP:0000085	Horseshoe kidney
23	HP:0001249	Intellectual disability	HP:0040284
24	HP:0000343	Long philtrum
25	HP:0000369	Low-set ears
26	HP:0000272	Malar flattening
27	HP:0000252	Microcephaly
28	HP:0000347	Micrognathia
29	HP:0001611	Nasal speech
30	HP:0002643	Neonatal respiratory distress
31	HP:0001643	Patent ductus arteriosus
32	HP:0001561	Polyhydramnios
33	HP:0002132	Porencephalic cyst
34	HP:0000358	Posteriorly rotated ears
35	HP:0008897	Postnatal growth retardation
36	HP:0000107	Renal cyst
37	HP:0002650	Scoliosis
38	HP:0010290	Short hard palate
39	HP:0005792	Short humerus
40	HP:0005257	Thoracic hypoplasia
41	HP:0001629	Ventricular septal defect
42	HP:0000465	Webbed neck

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_g	OtherIDs	Disease_ClinVar
NM_003091.3(SNRPB):c.155+406C>A	6628	SNRPB	Pathogenic	786201021	RCV000162252;	N	MedGen:C0265342,OMIM:117650,ORPHA:1393,SNOMED CT:51780007	20	2447847	2447847	NM_003091.3:c.155+406C>A	20:g.2447847na>na	OMIM Allelic Variant:182282.0004	C0265342 117650 Cerebro-costo-mandibular syndrome
NM_003091.3(SNRPB):c.155+302G>C	6628	SNRPB	Pathogenic	786201020	RCV000162250;	N	MedGen:C0265342,OMIM:117650,ORPHA:1393,SNOMED CT:51780007	20	2447951	2447951	NM_003091.3:c.155+302G>C	NC_000020.10:g.2447951C>A,NC_000020.10:g.2447951C>G	OMIM Allelic Variant:182282.0002	C0265342 117650 Cerebro-costo-mandibular syndrome
NM_003091.3(SNRPB):c.155+302G>T	6628	SNRPB	Pathogenic	786201020	RCV000162251;	N	MedGen:C0265342,OMIM:117650,ORPHA:1393,SNOMED CT:51780007	20	2447951	2447951	NM_003091.3:c.155+302G>T	NC_000020.10:g.2447951C>A,NC_000020.10:g.2447951C>G	OMIM Allelic Variant:182282.0003	C0265342 117650 Cerebro-costo-mandibular syndrome
NM_003091.3(SNRPB):c.155+301G>C	6628	SNRPB	Pathogenic	786201019	RCV000162249;	N	MedGen:C0265342,OMIM:117650,ORPHA:1393,SNOMED CT:51780007	20	2447952	2447952	NM_003091.3:c.155+301G>C	NC_000020.10:g.2447952C>G	OMIM Allelic Variant:182282.0001	C0265342 117650 Cerebro-costo-mandibular syndrome
NM_003091.3(SNRPB):c.-72C>A	6628	SNRPB	Pathogenic	786201022	RCV000162253;	N	MedGen:C0265342,OMIM:117650,ORPHA:1393,SNOMED CT:51780007	20	2451408	2451408	NM_003091.3:c.-72C>A	20:g.2451408na>na	OMIM Allelic Variant:182282.0005	C0265342 117650 Cerebro-costo-mandibular syndrome