SRD5A3 gene related symptoms and diseases

All the information presented here about the SRD5A3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to SRD5A3 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Motor delay	Very Common - Between 80% and 100% cases
Coloboma	Very Common - Between 80% and 100% cases
Seizures	Very Common - Between 80% and 100% cases
Type I transferrin isoform profile	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SRD5A3 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Palmoplantar keratoderma
Cerebellar atrophy
Visual loss
Abnormal heart morphology
Brachycephaly
Hyperkeratosis
Elevated hepatic transaminase
Ichthyosis

And 39 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SRD5A3 gene

Here you will find a list of rare diseases related to the SRD5A3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

KAHRIZI SYNDROME; KHRZ

Alternate names

KAHRIZI SYNDROME; KHRZ Is also known as mental retardation, cataract, coloboma, and kyphosis, autosomal recessive

Description

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 ), an allelic disorder with overlapping features.

Most common symptoms of KAHRIZI SYNDROME; KHRZ

Intellectual disability
Seizures
Cataract
Flexion contracture
Motor delay

More info about KAHRIZI SYNDROME; KHRZ

SOURCES: ORPHANET MESH OMIM

SRD5A3-CDG

Alternate names

SRD5A3-CDG Is also known as cdg1q, coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities, congenital disorder of glycosylation type iq, cdg-iq, congenital disorder of glycosylation type 1q, cdg syndrome type iq, cdg iq, cdgiq

Description

SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

Most common symptoms of SRD5A3-CDG

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Hearing impairment

More info about SRD5A3-CDG

SOURCES: OMIM ORPHANET

Search interest in SRD5A3

Potential gene panels for SRD5A3 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

SRD5A3 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to SRD5A3 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to SRD5A3 gene

KAHRIZI SYNDROME; KHRZ

Alternate names

Description

Most common symptoms of KAHRIZI SYNDROME; KHRZ

SRD5A3-CDG

Alternate names

Description

Most common symptoms of SRD5A3-CDG

Search interest in SRD5A3

Potential gene panels for SRD5A3 gene

MitoMet®Plus aCGH Analysis Panel

Congenital Disorders of Glycosylation Panel Panel

Congenital Disorders of Glycosylation Panel

Cerebral Cortical Malformation Sequencing Panel Panel

Lissencephaly Sequencing Panel Panel

Comprehensive Lissencephaly Panel Panel

Cobblestone Lissencephaly Panel Panel

Cerebral Cortical Malformations Deletion/Duplication Panel Panel

SRD5A3 Panel

Congenital disorders of glycosylation (NGS panel for 39 genes) Panel

Congenital disorder of glycosylation type Iq (sequence analysis of SRD5A3 gene) Panel

Hereditary ichthyosis (NGS panel of 53 genes) Panel

Hereditary ichthyosis (NGS panel of 53 genes) Panel

Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel

Lissencephaly and related disorders NGS test Panel

Lissencephaly and related disorders Deletion / Duplication test Panel

Lissencephaly and related disorders Comprehensive test Panel

Mental retardation - different panels Panel

Congenital Disorders of Glycosylation (CDG) Panel

Congenital Disorders of Glycosylation Sequential Panel 1 Panel

AllNeuro panel Panel

Congenital Disorders of Glycosylation (CDG) Panel Panel

Congenital Disorders of Glycosylation (CDG) Panel Panel

Brain malformations Panel

Invitae Congenital Disorders of Glycosylation Panel Panel

Congenital disorder of multiple glycosylation (CDG) Panel

Congenital Disorder of Glycosylation, SRD5A3-related: SRD5A3 Gene Sequencing Panel

Congenital Disorders of Glycosylation: Sequencing Panel Panel

Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel

Congenital Disorders of Glycosylation NGS Panel Panel

Intellectual Disability NGS Panel Panel

SRD5A3 Panel

Congenital Disorders of Glycosylation Panel Panel

Comprehensive Metabolism Panel Panel

Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes Panel