KAHRIZI SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE
KHRZ
Number of Symptoms 16
OrphanetNr:
OMIM Id: 612713
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012471) Thick vermilion border 115 / 7739
2
(HPO:0000431) Wide nasal bridge 290 / 7739
3
(HPO:0000179) Thick lower lip vermilion 72 / 7739
4
(HPO:0000414) Bulbous nose 63 / 7739
5
(HPO:0000612) Iris coloboma 116 / 7739
6
(HPO:0000518) Cataract 454 / 7739
7
(HPO:0006887) Intellectual disability, progressive 68 / 7739
8
(HPO:0010864) Intellectual disability, severe 120 / 7739
9
(HPO:0001270) Motor delay 322 / 7739
10
(HPO:0001371) Flexion contracture 220 / 7739
11
(HPO:0002942) Thoracic kyphosis 14 / 7739
12
(HPO:0006380) Knee flexion contracture 56 / 7739
13
(HPO:0002987) Elbow flexion contracture 64 / 7739
14
(HPO:0005306) Capillary hemangiomas 8 / 7739
15
(OMIM) Speech never acquired 1 / 7739
16
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...

Clinical Description OMIM Kahrizi et al. (2009) reported 3 Iranian sibs with a syndrome characterized by severe mental retardation, cataracts with onset in late adolescence, kyphosis, contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. One sib ...
Molecular genetics OMIM In 3 sibs, born of consanguineous Iranian parents, with Kahrizi syndrome (Kahrizi et al., 2009), Kahrizi et al. (2011) identified a homozygous truncating mutation in the SRD5A3 gene (611715.0006). RT-PCR analysis showed missing or reduced expression of the ...