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MSeqDR-LSDB
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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: Cataract (D002386)
Parent Node: Coloboma (D003103)
Parent Node: Facies (D019066)
Parent Node: Intellectual Disability (D008607)
Parent Node: Kyphosis (D007738)
..Starting node ..Kahrizi Syndrome (C567196)
Child Nodes:
Sister Nodes:
..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..Cervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
..Coffin syndrome 1 (C536435)
..Daish Hardman Lamont syndrome (C535770)
..Facial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..Kahrizi Syndrome (C567196)
..Kyphoscoliosis 1 (C565711)
..McDonough syndrome (C538158)
..Parastremmatic dwarfism (C537172)
..Scheuermann Disease (D012544)
..Vertebral Hypoplasia With Lumbar Kyphosis (C566002)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6006

Name:

Kahrizi Syndrome

Definition:

Alternative IDs:

OMIM:612713

ParentIDs:

MESH:D002386|MESH:D003103|MESH:D007738|MESH:D008607|MESH:D019066

TreeNumbers:

C05.116.900.800.500/C567196 |C10.597.606.643/C567196 |C11.250.110/C567196 |C11.510.245/C567196 |C16.131.384.282/C567196 |C23.550.291.812/C567196 |C23.888.592.604.646/C567196 |F03.550.600/C567196

Synonyms:

KHRZ |Mental Retardation, Cataract, Coloboma, and Kyphosis, Autosomal Recessive

Slim Mappings:

Reference:

MedGen: C567196
MeSH: C567196
OMIM: 612713;

Genes: SRD5A3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000414	Bulbous nose
3	HP:0005306	Capillary hemangioma
4	HP:0000518	Cataract
5	HP:0002987	Elbow flexion contracture
6	HP:0006887	Intellectual disability, progressive
7	HP:0010864	Intellectual disability, severe
8	HP:0000612	Iris coloboma
9	HP:0006380	Knee flexion contracture
10	HP:0001270	Motor delay
11	HP:0000179	Thick lower lip vermilion
12	HP:0002942	Thoracic kyphosis
13	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	Disease_hgmd
NM_024592.4(SRD5A3):c.204dupC (p.Phe69Leufs)	79644	SRD5A3	Pathogenic	869320736	RCV000023917;	N	MedGen:C2675185,OMIM:612713	4	56212707	56212707	NM_024592.4:c.204dupC	NP_078868.1:p.Phe69Leufs	NC_000004.11:g.56212707dupC	OMIM Allelic Variant:611715.0006	C2675185 612713 Kahrizi syndrome