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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Amenorrhea (D000568)
Parent Node: Ectromelia (D004480)
..Starting node ..Al Awadi syndrome (C535612)
Child Nodes:
Sister Nodes:
..Absence of Tibia (C535563)
..Al Awadi syndrome (C535612)
..Amelia and Terminal Transverse Hemimelia (C566294)
..Amelia, Autosomal Recessive (C563338)
..DK Phocomelia Syndrome (C565618)
..Johnson Munson syndrome (C535881)
..Laurin-Sandrow syndrome (C535689)
..Madokoro Ohdo Sonoda syndrome (C537838)
..Mermaid syndrome (C538595)
..Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
..Richieri Costa Da Silva syndrome (C535675)
..Roberts Syndrome (C535687)
..Rudd Klimek syndrome (C535879)
..Selig Benacerraf Greene syndrome (C535840)
..Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities (C536496)
..Tetra-amelia autosomal recessive (C536498)
..Tetra-amelia with pulmonary hypoplasia (C536499)
..Tetraamelia multiple malformations (C536500)
..Tetraphocomelia-Thrombocytopenia Syndrome (C564771)
..Tibia, Hypoplasia of, with Polydactyly (C566046)
..X-linked tetra-amelia (C536497)
..Yim Ebbin syndrome (C536713)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

397

Name:

Al Awadi syndrome

Definition:

Alternative IDs:

OMIM:276820

ParentIDs:

MESH:D000568|MESH:D004480

TreeNumbers:

C05.660.585.350/C535612 |C16.131.621.585.350/C535612 |C23.550.568.500/C535612

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Pathology (process)

Reference:

MedGen: C535612
MeSH: C535612
OMIM: 276820;

Genes: WNT7A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001798	Anonychia
3	HP:0003252	Anteriorly displaced genitalia	HP:0040284
4	HP:0003982	Aplasia of the ulna	HP:0040281
5	HP:0000151	Aplasia of the uterus	HP:0040283
6	HP:0006502	Aplasia/Hypoplasia involving the carpal bones	HP:0040282
7	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	HP:0040282
8	HP:0001964	Aplasia/Hypoplasia of metatarsal bones	HP:0040282
9	HP:0005613	Aplasia/hypoplasia of the femur	HP:0040281
10	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	HP:0040282
11	HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	HP:0040282
12	HP:0009104	Aplasia/Hypoplasia of the pubic bone	HP:0040282
13	HP:0008363	Aplasia/Hypoplasia of the tarsal bones	HP:0040282
14	HP:0008817	Aplastic pubic bones
15	HP:0001552	Barrel-shaped chest	HP:0040284
16	HP:0000916	Broad clavicles	HP:0040284
17	HP:0000475	Broad neck	HP:0040284
18	HP:0000885	Broad ribs	HP:0040284
19	HP:0004231	Carpal bone aplasia
20	HP:0006585	Congenital pseudoarthrosis of the clavicle
21	HP:0000028	Cryptorchidism	HP:0040284
22	HP:0005474	Decreased calvarial ossification
23	HP:0003498	Disproportionate short stature	HP:0040282
24	HP:0003070	Elbow ankylosis	HP:0040282
25	HP:0002987	Elbow flexion contracture	HP:0040282
26	HP:0000286	Epicanthus
27	HP:0002980	Femoral bowing	HP:0040282
28	HP:0002990	Fibular aplasia	HP:0040281
29	HP:0001849	Foot oligodactyly	HP:0040281
30	HP:0001180	Hand oligodactyly	HP:0040281
31	HP:0002937	Hemivertebrae
32	HP:0000218	High palate
33	HP:0002827	Hip dislocation	HP:0040283
34	HP:0003041	Humeroradial synostosis	HP:0040282
35	HP:0002984	Hypoplasia of the radius	HP:0040282
36	HP:0002557	Hypoplastic nipples
37	HP:0000047	Hypospadias
38	HP:0400004	Long ear
39	HP:0000276	Long face	HP:0040284
40	HP:0000369	Low-set ears
41	HP:0000189	Narrow palate
42	HP:0002436	Occipital meningocele	HP:0040283
43	HP:0000768	Pectus carinatum
44	HP:0009829	Phocomelia	HP:0040282
45	HP:0010769	Pilonidal sinus
46	HP:0000884	Prominent sternum	HP:0040284
47	HP:0002986	Radial bowing	HP:0040282
48	HP:0000046	Scrotal hypoplasia	HP:0040284
49	HP:0001773	Short foot	HP:0040281
50	HP:0000470	Short neck
51	HP:0001171	Split hand	HP:0040282
52	HP:0000431	Wide nasal bridge

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_004625.3(WNT7A):c.874C>T (p.Arg292Cys)	7476	WNT7A	Pathogenic	104893835	RCV000008526;	N	MedGen:C1848651,OMIM:276820,ORPHA:2879	3	13860617	13860617	NM_004625.3:c.874C>T	NP_004616.2:p.Arg292Cys	NC_000003.11:g.13860617G>A	OMIM Allelic Variant:601570.0001	C1848651 276820 Ulna and fibula absence of with severe limb deficiency
NM_004625.3(WNT7A):c.664C>T (p.Arg222Trp)	7476	WNT7A	Pathogenic	397514643	RCV000033175;	N	MedGen:C1848651,OMIM:276820,ORPHA:2879	3	13860827	13860827	NM_004625.3:c.664C>T	NP_004616.2:p.Arg222Trp	NC_000003.11:g.13860827G>A	OMIM Allelic Variant:601570.0004	C1848651 276820 Ulna and fibula absence of with severe limb deficiency
NM_004625.3(WNT7A):c.610G>A (p.Gly204Ser)	7476	WNT7A	Pathogenic	387907231	RCV000029192;	N	MedGen:C1848651,OMIM:276820,ORPHA:2879	3	13860881	13860881	NM_004625.3:c.610G>A	NP_004616.2:p.Gly204Ser	NC_000003.11:g.13860881C>T	OMIM Allelic Variant:601570.0003	C1848651 276820 Ulna and fibula absence of with severe limb deficiency
NM_004625.3(WNT7A):c.214G>A (p.Glu72Lys)	7476	WNT7A	Pathogenic	397514666	RCV000033263;	N	MedGen:C1848651,OMIM:276820,ORPHA:2879	3	13916528	13916528	NM_004625.3:c.214G>A	NP_004616.2:p.Glu72Lys	NC_000003.11:g.13916528C>T	OMIM Allelic Variant:601570.0005	C1848651 276820 Ulna and fibula absence of with severe limb deficiency