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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: Chromosome Disorders (D025063)
..Starting node ..Contiguous Abcd1/Dxs1375e Deletion Syndrome (C564508)
Child Nodes:
Sister Nodes:
..10p Deletion Syndrome (Partial) (C538288)
..13q deletion syndrome (C535484) 1
..15q24 Microdeletion (C579849)
..16p11.2 Deletion Syndrome (C579850)
..22q11 Deletion Syndrome (D058165) 5
..6q+ Syndrome, Partial (C537810)
..7p2 monosomy syndrome (C537818)
..9q22.3 Microdeletion (C579873)
..Angelman Syndrome (D017204) 1
..Beckwith-Wiedemann Syndrome (D001506) 1
..Branchio-Oto-Renal Syndrome (D019280) 5
..Chromosome 10q duplication syndrome (C537804)
..Chromosome 13q-mosaicism (C535486)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Chromosome 17p13.3 Duplication Syndrome (C567705)
..Chromosome 18 deletion syndrome (C536580)
..Chromosome 18p deletion syndrome (C538309)
..Chromosome 19q13.11 Deletion Syndrome (C567810)
..Chromosome 1p36 Deletion Syndrome (C535362)
..Chromosome 22, monosome mosaic (C536798)
..Chromosome 3 duplication syndrome (C536803)
..Chromosome 3q29 Duplication Syndrome (C567626)
..Chromosome 4, 4q Terminal Deletion Syndrome (C537641)
..Chromosome 4q- Syndrome (C537639)
..Chromosome 5p13 Duplication Syndrome (C567717)
..Chromosome 6 ring syndrome (C537763)
..Chromosome 7 ring syndrome (C537813)
..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..Contiguous Abcd1/Dxs1375e Deletion Syndrome (C564508)
..Cri-du-Chat Syndrome (D003410) 6
..De Lange Syndrome (D003635) 1
..Delayed Cranial Ossification due to CBFB Haploinsufficiency (C565160)
..Deletion 13q syndrome, partial (C535449)
..Distal Trisomy 10q Syndrome (C538087)
..Down Syndrome (D004314) 6
..Duplication 4p Syndrome (C537643)
..Edinburgh Malformation Syndrome (C563051)
..Emanuel syndrome (C535733)
..Fragile Site 16p12 (C565001)
..Holoprosencephaly (D016142) 22
..Isodicentric Chromosome 15 Syndrome (C580205)
..Jacobsen Distal 11q Deletion Syndrome (D054868) 1
..Mental Retardation, Fra12a Type (C566980)
..Monosomy 7 of Bone Marrow (C565370)
..Mosaic variegated aneuploidy syndrome (C536987)
..NF1 Microduplication Syndrome (C567173)
..Otodental Dysplasia (C563482)
..Pallister Killian syndrome (C538105)
..Partial Duplication 15q Syndrome (C538036)
..Partial Trisomy 3q Syndrome (C537635)
..Patau syndrome (C536305)
..Potocki-Shaffer syndrome (C538356)
..Prader-Willi Syndrome (D011218) 2
..Recombinant chromosome 8 syndrome (C535296)
..Ring chromosome 4 syndrome (C537636)
..Rubinstein-Taybi Syndrome (D012415) 2
..Schmid-Fraccaro syndrome (C535918)
..Sex Chromosome Disorders (D025064) 32
..Silver-Russell Syndrome (D056730) 1
..Smith-Magenis Syndrome (D058496) 1
..Sotos Syndrome (D058495) 1
..Telomeric 22q13 Monosomy Syndrome (C536801)
..Thrombocytopenia chromosome breakage (C536519)
..Trisomy 18-Like Syndrome (C563382)
..Trisomy 22 mosaicism syndrome (C536796)
..WAGR Syndrome (D017624) 2
..Warburton Anyane Yeboa syndrome (C536682)
..Williams Syndrome (D018980) 1
..Wolf-Hirschhorn Syndrome (D054877)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2683

Name:

Contiguous Abcd1/Dxs1375e Deletion Syndrome

Definition:

Alternative IDs:

OMIM:300475

ParentIDs:

MESH:D000015|MESH:D025063

TreeNumbers:

C16.131.077/C564508 |C16.131.260/C564508 |C16.320.180/C564508

Synonyms:

CADDS, INCLUDED |CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME, INCLUDED |DDCH |DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)

Reference:

MedGen: C564508
MeSH: C564508
OMIM: 300475;

Genes: BCAP31;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0001999	Abnormal facial shape
3	HP:0007256	Abnormal pyramidal sign
4	HP:0001272	Cerebellar atrophy
5	HP:0002059	Cerebral atrophy
6	HP:0006808	Cerebral hypomyelination
7	HP:0001332	Dystonia
8	HP:0001508	Failure to thrive
9	HP:0001263	Global developmental delay
10	HP:0010864	Intellectual disability, severe
11	HP:0000252	Microcephaly
12	HP:0000648	Optic atrophy	HP:0040283
13	HP:0001250	Seizure	HP:0040283
14	HP:0000407	Sensorineural hearing impairment
15	HP:0000486	Strabismus
16	HP:0002445	Tetraplegia

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_005745.7(BCAP31):c.97C>T (p.Gln33Ter)	10134	BCAP31	Pathogenic	397515620	RCV000059316;	N	Gene:100302680,MedGen:C1845408,OMIM:300475	X	152986423	152986423	NM_005745.7:c.97C>T	NP_005736.3:p.Gln33Ter	NC_000023.10:g.152986423G>A	OMIM Allelic Variant:300398.0003	C1845408 300475 Chromosome Xq28 deletion syndrome