KHRZ
MCID: KHR001
MIFTS: 21

Kahrizi Syndrome (KHRZ)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Kahrizi Syndrome

MalaCards integrated aliases for Kahrizi Syndrome:

Name: Kahrizi Syndrome 58 12 76 30 13 6 15 41 74
Khrz 58 76
Mental Retardation, Cataract, Coloboma, and Kyphosis, Autosomal Recessive 58
Autosomal Recessive Mental Retardation Cataract Coloboma and Kyphosis 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
three affected sibs have been reported
onset of cataracts in late adolescence
onset of kyphosis in childhood


HPO:

33
kahrizi syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Kahrizi Syndrome

OMIM : 58 Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009). See also congenital disorder of glycosylation type Iq (CDG1Q; 612379), an allelic disorder with overlapping features. (612713)

MalaCards based summary : Kahrizi Syndrome, is also known as khrz. An important gene associated with Kahrizi Syndrome is SRD5A3 (Steroid 5 Alpha-Reductase 3). Related phenotypes are cataract and wide nasal bridge

Disease Ontology : 12 An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene.

UniProtKB/Swiss-Prot : 76 Kahrizi syndrome: An autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features.

Related Diseases for Kahrizi Syndrome

Symptoms & Phenotypes for Kahrizi Syndrome

Human phenotypes related to Kahrizi Syndrome:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518
2 wide nasal bridge 33 HP:0000431
3 intellectual disability, severe 33 HP:0010864
4 thick lower lip vermilion 33 HP:0000179
5 elbow flexion contracture 33 HP:0002987
6 motor delay 33 HP:0001270
7 intellectual disability, progressive 33 HP:0006887
8 bulbous nose 33 HP:0000414
9 thoracic kyphosis 33 HP:0002942
10 iris coloboma 33 HP:0000612
11 knee flexion contracture 33 HP:0006380
12 capillary hemangioma 33 HP:0005306

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
bulbous nose
broad nasal bridge

Head And Neck Eyes:
iris coloboma
cataracts

Head And Neck Mouth:
thick lips

Skeletal Limbs:
elbow contractures
knee contractures

Skeletal Spine:
thoracic kyphosis

Neurologic Central Nervous System:
delayed motor development
mental retardation, severe
speech never acquired

Skeletal:
joint contractures

Skin Nails Hair Skin:
capillary hemangioma (in 1 patient)

Clinical features from OMIM:

612713

Drugs & Therapeutics for Kahrizi Syndrome

Search Clinical Trials , NIH Clinical Center for Kahrizi Syndrome

Genetic Tests for Kahrizi Syndrome

Genetic tests related to Kahrizi Syndrome:

# Genetic test Affiliating Genes
1 Kahrizi Syndrome 30 SRD5A3

Anatomical Context for Kahrizi Syndrome

Publications for Kahrizi Syndrome

Articles related to Kahrizi Syndrome:

# Title Authors Year
1
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. ( 20700148 )
2011

Variations for Kahrizi Syndrome

ClinVar genetic disease variations for Kahrizi Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SRD5A3 NM_024592.4(SRD5A3): c.204dupC (p.Phe69Leufs) duplication Pathogenic rs869320736 GRCh38 Chromosome 4, 55346540: 55346540
2 SRD5A3 NM_024592.4(SRD5A3): c.204dupC (p.Phe69Leufs) duplication Pathogenic rs869320736 GRCh37 Chromosome 4, 56212707: 56212707

Expression for Kahrizi Syndrome

Search GEO for disease gene expression data for Kahrizi Syndrome.

Pathways for Kahrizi Syndrome

GO Terms for Kahrizi Syndrome

Cellular components related to Kahrizi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 8.62 SRD5A3 VWF

Sources for Kahrizi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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