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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: Abnormalities, Multiple (D000015)
Parent Node: Hand Deformities, Congenital (D006228)
Parent Node: Intellectual Disability (D008607)
Parent Node: Micrognathism (D008844)
..Starting node ..Coffin-Siris syndrome (C536436)
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:

2462

Name:

Coffin-Siris syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D000015|MESH:D006228|MESH:D008607|MESH:D008844

TreeNumbers:

C05.390.408/C536436 |C05.500.460.457/C536436 |C05.660.207.540.460.457/C536436 |C05.660.585.988.425/C536436 |C07.320.440.457/C536436 |C07.650.500.460.457/C536436 |C10.597.606.643/C536436 |C16.131.077/C536436 |C16.131.621.207.540.460.457/C536436 |C16.131.621.585.42

Synonyms:

Fifth digit syndrome

Slim Mappings:

Reference:

MedGen: C536436
MeSH: C536436
OMIM: 135900;

Genes: AF8T;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0000718	Aggressive behavior
4	HP:0000151	Aplasia of the uterus
5	HP:0006498	Aplasia/Hypoplasia of the patella
6	HP:0000483	Astigmatism
7	HP:0001631	Atrial septal defect
8	HP:0000729	Autistic behavior
9	HP:0000455	Broad nasal tip
10	HP:0000453	Choanal atresia
11	HP:0000175	Cleft palate
12	HP:0000280	Coarse facial features
13	HP:0000776	Congenital diaphragmatic hernia
14	HP:0002673	Coxa valga
15	HP:0000028	Cryptorchidism
16	HP:0000965	Cutis marmorata
17	HP:0001305	Dandy-Walker malformation
18	HP:0000684	Delayed eruption of teeth
19	HP:0002750	Delayed skeletal maturation
20	HP:0005280	Depressed nasal bridge
21	HP:0003083	Dislocated radial head
22	HP:0000494	Downslanted palpebral fissures
23	HP:0002588	Duodenal ulcer
24	HP:0000086	Ectopic kidney
25	HP:0002219	Facial hypertrichosis
26	HP:0008872	Feeding difficulties in infancy
27	HP:0002592	Gastric ulcer
28	HP:0001263	Global developmental delay
29	HP:0000365	Hearing impairment
30	HP:0001028	Hemangioma
31	HP:0000218	High palate
32	HP:0000126	Hydronephrosis
33	HP:0002079	Hypoplasia of the corpus callosum
34	HP:0008398	Hypoplastic fifth fingernail
35	HP:0000047	Hypospadias
36	HP:0000601	Hypotelorism
37	HP:0001252	Hypotonia
38	HP:0000023	Inguinal hernia
39	HP:0001249	Intellectual disability
40	HP:0002566	Intestinal malrotation
41	HP:0001511	Intrauterine growth retardation
42	HP:0002576	Intussusception
43	HP:0001388	Joint laxity
44	HP:0002808	Kyphosis
45	HP:0000527	Long eyelashes
46	HP:0000369	Low-set ears
47	HP:0009747	Lumbosacral hirsutism
48	HP:0000252	Microcephaly
49	HP:0000545	Myopia
50	HP:0000639	Nystagmus
51	HP:0001338	Partial agenesis of the corpus callosum
52	HP:0001643	Patent ductus arteriosus
53	HP:0003812	Phenotypic variability
54	HP:0000358	Posteriorly rotated ears
55	HP:0008897	Postnatal growth retardation
56	HP:0000384	Preauricular skin tag
57	HP:0006237	Prominent interphalangeal joints
58	HP:0000508	Ptosis
59	HP:0002205	Recurrent respiratory infections
60	HP:0000089	Renal hypoplasia
61	HP:0000960	Sacral dimple
62	HP:0002650	Scoliosis
63	HP:0001250	Seizure
64	HP:0006863	Severe expressive language delay
65	HP:0004227	Short distal phalanx of the 5th finger
66	HP:0100391	Short distal phalanx of the 5th toe
67	HP:0004322	Short stature
68	HP:0000879	Short sternum
69	HP:0000954	Single transverse palmar crease
70	HP:0002209	Sparse scalp hair
71	HP:0003298	Spina bifida occulta
72	HP:0000486	Strabismus
73	HP:0001636	Tetralogy of Fallot
74	HP:0000574	Thick eyebrow
75	HP:0000179	Thick lower lip vermilion
76	HP:0000219	Thin upper lip vermilion
77	HP:0001537	Umbilical hernia
78	HP:0001629	Ventricular septal defect
79	HP:0000505	Visual impairment
80	HP:0000154	Wide mouth

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_020732.3(ARID1B):c.1903C>T (p.Gln635Ter)	57492	ARID1B	Pathogenic	387907142	RCV000024212;	N	MedGen:C0265338,OMIM:135900,ORPHA:1465,SNOMED CT:10007009	6	157222636	157222636	NM_020732.3:c.1903C>T	NP_065783.3:p.Gln635Ter	NC_000006.11:g.157222636C>T	OMIM Allelic Variant:614556.0006	C0265338 135900 Coffin-Siris syndrome; C0162871 100070 Familial abdominal aortic aneurysm 1
NM_020732.3(ARID1B):c.3223C>T (p.Arg1075Ter)	57492	ARID1B	Pathogenic	387907144	RCV000024215;	N	MedGen:C0265338,OMIM:135900,ORPHA:1465,SNOMED CT:10007009	6	157502190	157502190	NM_020732.3:c.3223C>T	NP_065783.3:p.Arg1075Ter	NC_000006.11:g.157502190C>T	OMIM Allelic Variant:614556.0009	C0265338 135900 Coffin-Siris syndrome; C0162871 100070 Familial abdominal aortic aneurysm 1
NM_020732.3(ARID1B):c.3304C>T (p.Arg1102Ter)	57492	ARID1B	Pathogenic	387907141	RCV000024209;	N	MedGen:C0265338,OMIM:135900,ORPHA:1465,SNOMED CT:10007009	6	157502271	157502271	NM_020732.3:c.3304C>T	NP_065783.3:p.Arg1102Ter	NC_000006.11:g.157502271C>T	OMIM Allelic Variant:614556.0003	C0265338 135900 Coffin-Siris syndrome; C0162871 100070 Familial abdominal aortic aneurysm 1
NM_020732.3(ARID1B):c.3323_3324delAA (p.Lys1108Argfs)	57492	ARID1B	Pathogenic	-1	RCV000024210;	N	MedGen:C0265338,OMIM:135900,ORPHA:1465,SNOMED CT:10007009	6	157502290	157502291	NM_020732.3:c.3323_3324delAA	NP_065783.3:p.Lys1108Argfs		OMIM Allelic Variant:614556.0004	C0265338 135900 Coffin-Siris syndrome; C0162871 100070 Familial abdominal aortic aneurysm 1
NM_020732.3(ARID1B):c.3919C>T (p.Gln1307Ter)	57492	ARID1B	Pathogenic	387907140	RCV000024207;	N	MedGen:C0265338,OMIM:135900,ORPHA:1465,SNOMED CT:10007009	6	157517355	157517355	NM_020732.3:c.3919C>T	NP_065783.3:p.Gln1307Ter	NC_000006.11:g.157517355C>T	OMIM Allelic Variant:614556.0001	C0265338 135900 Coffin-Siris syndrome; C0162871 100070 Familial abdominal aortic aneurysm 1
NM_020732.3(ARID1B):c.4038T>A (p.Tyr1346Ter)	57492	ARID1B	Pathogenic	748363079	RCV000024211;	N	MedGen:C0265338,OMIM:135900,ORPHA:1465,SNOMED CT:10007009	6	157519969	157519969	NM_020732.3:c.4038T>A	NP_065783.3:p.Tyr1346Ter	NC_000006.11:g.157519969T>A	OMIM Allelic Variant:614556.0005	C0265338 135900 Coffin-Siris syndrome; C0162871 100070 Familial abdominal aortic aneurysm 1
NM_020732.3(ARID1B):c.4619_4628delACCAGACGCC (p.Gln1541Argfs)	57492	ARID1B	Pathogenic	-1	RCV000024216;	N	MedGen:C0265338,OMIM:135900,ORPHA:1465,SNOMED CT:10007009	6	157522347	157522356	NM_020732.3:c.4619_4628delACCAGACGCC	NP_065783.3:p.Gln1541Argfs		OMIM Allelic Variant:614556.0010	C0265338 135900 Coffin-Siris syndrome; C0162871 100070 Familial abdominal aortic aneurysm 1
NM_020732.3(ARID1B):c.5329A>T (p.Lys1777Ter)	57492	ARID1B	Pathogenic	387907143	RCV000024214;	N	MedGen:C0265338,OMIM:135900,ORPHA:1465,SNOMED CT:10007009	6	157527604	157527604	NM_020732.3:c.5329A>T	NP_065783.3:p.Lys1777Ter	NC_000006.11:g.157527604A>T	OMIM Allelic Variant:614556.0008	C0265338 135900 Coffin-Siris syndrome; C0162871 100070 Familial abdominal aortic aneurysm 1
NM_020732.3(ARID1B):c.5632delG (p.Asp1878Metfs)	57492	ARID1B	Pathogenic	-1	RCV000024213;	N	MedGen:C0265338,OMIM:135900,ORPHA:1465,SNOMED CT:10007009	6	157527907	157527907	NM_020732.3:c.5632delG	NP_065783.3:p.Asp1878Metfs		OMIM Allelic Variant:614556.0007	C0265338 135900 Coffin-Siris syndrome; C0162871 100070 Familial abdominal aortic aneurysm 1
NM_020732.3(ARID1B):c.6463_6473delAGCATTGGAAA (p.Ser2155Leufs)	57492	ARID1B	Pathogenic	-1	RCV000024208;	N	MedGen:C0265338,OMIM:135900,ORPHA:1465,SNOMED CT:10007009	6	157528738	157528748	NM_020732.3:c.6463_6473delAGCATTGGAAA	NP_065783.3:p.Ser2155Leufs		OMIM Allelic Variant:614556.0002	C0265338 135900 Coffin-Siris syndrome; C0162871 100070 Familial abdominal aortic aneurysm 1
NM_003079.4(SMARCE1):c.218A>G (p.Tyr73Cys)	6605	SMARCE1	Likely pathogenic;Pathogenic	387906857	RCV000193407; RCV000023251;	N	MedGen:C0265338,OMIM:135900,ORPHA:1465,SNOMED CT:10007009; MedGen:C1333989,OMIM:607174	17	38793763	38793763	NM_003079.4:c.218A>G	NP_003070.3:p.Tyr73Cys	NC_000017.10:g.38793763T>C	OMIM Allelic Variant:603111.0001	C0265338 135900 Coffin-Siris syndrome; C0162871 100070 Familial abdominal aortic aneurysm 1; C1333989 607174 Meningioma, familial