KIAA0586 gene related symptoms and diseases

All the information presented here about the KIAA0586 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 KIAA0586 gene

Symptoms // Phenotype	% Cases
Global developmental delay	Common - Between 50% and 80% cases
Cerebellar vermis hypoplasia	Common - Between 50% and 80% cases
Molar tooth sign on MRI	Common - Between 50% and 80% cases
Low-set ears	Common - Between 50% and 80% cases
Apnea	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with KIAA0586 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Thoracic hypoplasia
Postaxial polydactyly
Short ribs
Polymicrogyria
Oral cleft
Coloboma
Hydrocephalus
Polydactyly

And 125 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to KIAA0586 gene

Here you will find a list of rare diseases related to the KIAA0586. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

JOUBERT SYNDROME

Alternate names

JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv, joubert syndrome type a, classic joubert syndrome, pure joubert syndrome, cpd iv, joubert-boltshauser syndrome

Description

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

Most common symptoms of JOUBERT SYNDROME

Intellectual disability
Seizures
Global developmental delay
Scoliosis
Ataxia

More info about JOUBERT SYNDROME

SOURCES: ORPHANET

SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Description

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Most common symptoms of SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Generalized hypotonia
Cleft palate
Low-set ears
Depressed nasal bridge
Abnormality of the skeletal system

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

SOURCES: OMIM

JOUBERT SYNDROME 23; JBTS23

Description

Joubert syndrome-23 is an autosomal recessive neurodevelopmental disorder characterized by delayed development, abnormal eye movements, and abnormal breathing pattern associated with a characteristic hindbrain malformation apparent on brain imaging and known as the 'molar tooth sign.' Compared to other forms of Joubert syndrome, the phenotype is relatively mild, and other organ systems are generally not affected (summary by Bachmann-Gagescu et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Most common symptoms of JOUBERT SYNDROME 23; JBTS23

Global developmental delay
Polydactyly
Apnea
Abnormality of the eye
Coloboma

More info about JOUBERT SYNDROME 23; JBTS23

SOURCES: OMIM

JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

Alternate names

JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY Is also known as jbts with jatd, joubert syndrome with jatd

Description

Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.

Most common symptoms of JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

Global developmental delay
Short stature
Generalized hypotonia
Hypertelorism
Failure to thrive

More info about JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

SOURCES: ORPHANET

Search interest in KIAA0586

Potential gene panels for KIAA0586 gene

Non-immune Hydrops Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B

KIAA0586 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to KIAA0586 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to KIAA0586 gene

JOUBERT SYNDROME

Alternate names

Description

Most common symptoms of JOUBERT SYNDROME

SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Description

Most common symptoms of SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

JOUBERT SYNDROME 23; JBTS23

Description

Most common symptoms of JOUBERT SYNDROME 23; JBTS23

JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

Alternate names

Description

Most common symptoms of JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

Search interest in KIAA0586

Potential gene panels for KIAA0586 gene

Non-immune Hydrops Panel Panel

Joubert/Meckel-Gruber syndrome Panel Panel

Renal Cystic Disorders Sequencing Panel Panel

Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel Panel

Ataxia Exome Panel Panel

Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection Panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

Skeletal dysplasia ciliopathy Deletion / Duplication panel Panel

Skeletal dysplasia ciliopathy NGS panel Panel

Skeletal dysplasia ciliopathy Comprehensive panel Panel

Joubert syndrome and related disorders NGS panel Panel

Joubert syndrome and related disorders Deletion / Duplication panel Panel

Joubert syndrome and related disorders Comprehensive panel Panel

Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel

Skeletal dysplasia and skeletal ciliopathy NGS panel Panel

Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel

Mental retardation - different panels Panel

Hereditary kidney disorders - different panels Panel

Joubert syndrome type 23 Panel

Joubert Syndrome Panel Panel

Joubert Syndrome Panel Panel

Joubert Syndrome Panel Panel

Joubert Syndrome Panel Panel

Joubert Syndrome Panel

Skeletal Ciliopathies Panel

Invitae Joubert and Meckel-Gruber Syndromes Panel Panel

Invitae Ciliopathies Panel Panel

Invitae Skeletal Ciliopathies Panel Panel

KIAA0586 Panel

Retinal Dystrophy Panel Panel

Joubert Syndrome Panel Panel

Ciliopathy Panel Panel

SÍNDROME DE MECKEL/ MECKEL-GRUBER/ MECKEL-GRUBER-LIKE NGS PANEL Panel