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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: Hypertelorism (D006972)
Parent Node: Hypospadias (D007021)
..Starting node ..Hypertelorism with esophageal abnormality and hypospadias (C538387)
Child Nodes:
Sister Nodes:
..Anal Atresia, Hypospadias, and Penoscrotal Inversion (C566526)
..Hypertelorism with esophageal abnormality and hypospadias (C538387)
..Hypospadias 1, X-Linked (C567482)
..Hypospadias 2, X-Linked (C567462)
..Hypospadias 3, Autosomal (C567191)
..HYPOSPADIAS 4, X-LINKED, SUSCEPTIBILITY TO (OMIM:300856)
..Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
..Hypospadias-Mental Retardation Syndrome (C563067)
..Naguib-Richieri-Costa syndrome (C538332)
..Opitz GBBB Syndrome, X-Linked (C567932)
..Preaxial deficiency, postaxial polydactyly and hypospadias (C538278)
..Pseudovaginal Perineoscrotal Hypospadias (C535830)
..Radial hypoplasia, triphalangeal thumbs and hypospadias (C536262)
..Radius absent anogenital anomalies (C535281)
..Scalp ear nipple syndrome (C536623)
..Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias (C563509)
..Stratton-Parker Syndrome (C566105)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5485

Name:

Hypertelorism with esophageal abnormality and hypospadias

Definition:

Alternative IDs:

OMIM:145410

ParentIDs:

MESH:D006972|MESH:D007021

TreeNumbers:

C05.116.099.370.231.480/C538387 |C05.660.207.231.480/C538387 |C12.294.494.400/C538387 |C12.706.516/C538387 |C13.351.875.466/C538387 |C16.131.621.207.231.480/C538387 |C16.131.939.516/C538387

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C538387
MeSH: C538387
OMIM: 145410;

Genes: SPECC1L;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0000077	Abnormality of the kidney
4	HP:0000069	Abnormality of the ureter
5	HP:0011467	Absent gallbladder
6	HP:0001274	Agenesis of corpus callosum
7	HP:0002023	Anal atresia
8	HP:0002025	Anal stenosis
9	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
10	HP:0002835	Aspiration
11	HP:0001631	Atrial septal defect
12	HP:0000048	Bifid scrotum
13	HP:0000193	Bifid uvula
14	HP:0002389	Cavum septum pellucidum
15	HP:0001320	Cerebellar vermis hypoplasia
16	HP:0002120	Cerebral cortical atrophy
17	HP:0000175	Cleft palate
18	HP:0000204	Cleft upper lip
19	HP:0001680	Coarctation of aorta
20	HP:0000405	Conductive hearing impairment
21	HP:0000267	Cranial asymmetry
22	HP:0001363	Craniosynostosis	HP:0040283
23	HP:0000028	Cryptorchidism
24	HP:0005280	Depressed nasal bridge
25	HP:0001540	Diastasis recti
26	HP:0000494	Downslanted palpebral fissures
27	HP:0002015	Dysphagia
28	HP:0000286	Epicanthus
29	HP:0002007	Frontal bossing
30	HP:0001290	Generalized hypotonia
31	HP:0001263	Global developmental delay
32	HP:0002036	Hiatus hernia
33	HP:0000218	High palate
34	HP:0000316	Hypertelorism
35	HP:0000047	Hypospadias
36	HP:0001252	Hypotonia
37	HP:0000023	Inguinal hernia
38	HP:0001249	Intellectual disability
39	HP:0008751	Laryngeal cleft
40	HP:0000347	Micrognathia
41	HP:0001643	Patent ductus arteriosus
42	HP:0000358	Posteriorly rotated ears
43	HP:0011220	Prominent forehead
44	HP:0002092	Pulmonary arterial hypertension
45	HP:0002089	Pulmonary hypoplasia
46	HP:0000200	Short lingual frenulum
47	HP:0000319	Smooth philtrum
48	HP:0000486	Strabismus
49	HP:0000506	Telecanthus
50	HP:0000219	Thin upper lip vermilion
51	HP:0002575	Tracheoesophageal fistula
52	HP:0001537	Umbilical hernia
53	HP:0001629	Ventricular septal defect
54	HP:0002119	Ventriculomegaly
55	HP:0001612	Weak cry
56	HP:0000431	Wide nasal bridge
57	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	Disease_hgmd
NM_015330.4(SPECC1L):c.1189A>C (p.Thr397Pro)	-1	-	Pathogenic	786201030	RCV000162328;	N	Gene:8221,MedGen:C1801950,OMIM:145410,ORPHA:306588	22	24718137	24718137	NM_015330.4:c.1189A>C	NP_056145.4:p.Thr397Pro	NC_000022.10:g.24718137A>C	OMIM Allelic Variant:614140.0002	C1801950 145410 Opitz G/BBB syndrome
NM_015330.4(SPECC1L):c.3247G>A (p.Gly1083Ser)	-1	-	Pathogenic	786201031	RCV000162329;	N	Gene:8221,MedGen:C1801950,OMIM:145410,ORPHA:306588	22	24808658	24808658	NM_015330.4:c.3247G>A	NP_056145.4:p.Gly1083Ser	NC_000022.10:g.24808658G>A	OMIM Allelic Variant:614140.0003	C1801950 145410 Opitz G/BBB syndrome