MCID: KHR001
MIFTS: 22

Kahrizi Syndrome

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Kahrizi Syndrome

MalaCards integrated aliases for Kahrizi Syndrome:

Name: Kahrizi Syndrome 57 12 75 29 13 6 15 40 73
Khrz 57 75
Mental Retardation, Cataract, Coloboma, and Kyphosis, Autosomal Recessive 57
Autosomal Recessive Mental Retardation Cataract Coloboma and Kyphosis 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
kahrizi syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Kahrizi Syndrome

OMIM : 57 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, also known as khrz, is related to trehalase deficiency. An important gene associated with Kahrizi Syndrome is SRD5A3 (Steroid 5 Alpha-Reductase 3). Related phenotypes are thick lower lip vermilion and bulbous nose

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 : 75 Kahrizi syndrome: An autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features.

Related Diseases for Kahrizi Syndrome

Diseases related to Kahrizi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 trehalase deficiency 9.0 SRD5A3 VWF

Symptoms & Phenotypes for Kahrizi Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Kahrizi Syndrome:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 thick lower lip vermilion 32 HP:0000179
2 bulbous nose 32 HP:0000414
3 wide nasal bridge 32 HP:0000431
4 cataract 32 HP:0000518
5 iris coloboma 32 HP:0000612
6 motor delay 32 HP:0001270
7 thoracic kyphosis 32 HP:0002942
8 elbow flexion contracture 32 HP:0002987
9 capillary hemangioma 32 HP:0005306
10 knee flexion contracture 32 HP:0006380
11 intellectual disability, progressive 32 HP:0006887
12 intellectual disability, severe 32 HP:0010864

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 29 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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