INPP5E gene related symptoms and diseases

All the information presented here about the INPP5E gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, 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 INPP5E gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Highly arched eyebrow	Common - Between 50% and 80% cases
Cerebellar vermis hypoplasia	Common - Between 50% and 80% cases
Prominent nasal bridge	Common - Between 50% and 80% cases
Encephalocele	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with INPP5E gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Apnea
Oculomotor apraxia
Anteverted nares
Tremor
Abnormal pattern of respiration
Ptosis
Muscular hypotonia
Retinal dystrophy

And 136 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to INPP5E gene

Here you will find a list of rare diseases related to the INPP5E. 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

JOUBERT SYNDROME 1; JBTS1

Alternate names

JOUBERT SYNDROME 1; JBTS1 Is also known as cerebelloparenchymal disorder iv, jbts, cpd4, joubert syndrome, cerebellooculorenal syndrome 1, cors1, joubert-boltshauser syndrome

Description

Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

Most common symptoms of JOUBERT SYNDROME 1; JBTS1

Intellectual disability
Global developmental delay
Generalized hypotonia
Ataxia
Micrognathia

More info about JOUBERT SYNDROME 1; JBTS1

SOURCES: OMIM

JOUBERT SYNDROME WITH HEPATIC DEFECT

Alternate names

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome, cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis, cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis, js-h, joubert syndrome with congenital hepatic fibro

Description

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

Most common symptoms of JOUBERT SYNDROME WITH HEPATIC DEFECT

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Scoliosis

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

SOURCES: ORPHANET MESH OMIM

MORM SYNDROME

Alternate names

MORM SYNDROME Is also known as morm syndrome, mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome, intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Description

MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.

Most common symptoms of MORM SYNDROME

Intellectual disability
Microcephaly
Abnormal facial shape
Cataract
Delayed speech and language development

More info about MORM SYNDROME

SOURCES: ORPHANET OMIM MESH

JOUBERT SYNDROME WITH OCULAR DEFECT

Alternate names

JOUBERT SYNDROME WITH OCULAR DEFECT Is also known as joubert syndrome with retinopathy, js-o

Description

Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.

Most common symptoms of JOUBERT SYNDROME WITH OCULAR DEFECT

Intellectual disability
Seizures
Global developmental delay
Scoliosis
Ataxia

More info about JOUBERT SYNDROME WITH OCULAR DEFECT

SOURCES: ORPHANET

Search interest in INPP5E

Potential gene panels for INPP5E 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

INPP5E gene related symptoms and diseases

Top 5 symptoms and clinical features associated to INPP5E gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to INPP5E gene

JOUBERT SYNDROME

Alternate names

Description

Most common symptoms of JOUBERT SYNDROME

JOUBERT SYNDROME 1; JBTS1

Alternate names

Description

Most common symptoms of JOUBERT SYNDROME 1; JBTS1

JOUBERT SYNDROME WITH HEPATIC DEFECT

Alternate names

Description

Most common symptoms of JOUBERT SYNDROME WITH HEPATIC DEFECT

MORM SYNDROME

Alternate names

Description

Most common symptoms of MORM SYNDROME

JOUBERT SYNDROME WITH OCULAR DEFECT

Alternate names

Description

Most common symptoms of JOUBERT SYNDROME WITH OCULAR DEFECT

Search interest in INPP5E

Potential gene panels for INPP5E gene

MitoMet®Plus aCGH Analysis Panel

Bardet-Biedl Syndrome Panel Panel

Joubert Syndrome 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

Comprehensive Brain Malformations Panel Panel

INPP5E. Complete sequencing Panel

Joubert Syndrome (sequence analysis of INPP5E gene) Panel

Joubert syndrome (NGS panel for 24 genes) Panel

Ciliopathies (NGS panel for 90 genes) Panel

Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel

Leber Congenital Amaurosis Sequencing Panel with CNV Detection Panel

Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

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

Joubert Syndrome via INPP5E Gene Sequencing with CNV Detection Panel

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

Ciliopathy Sequencing Panel with CNV Detection Panel

Leber congenital amaurosis and related disorders Comprehensive panel Panel

Leber congenital amaurosis and related disorders Deletion / Duplication panel Panel

Leber congenital amaurosis and related disorders NGS 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

Mental retardation - different panels Panel

Hereditary kidney disorders - different panels Panel

INPP5E-Related Joubert Syndrome Panel

Joubert syndrome type 1 Panel

AllNeuro panel Panel

Joubert Syndrome Panel Panel

Joubert Syndrome Panel Panel

Joubert Syndrome Panel Panel

Ataxia and differential diagnoses Panel Panel

Joubert Syndrome Panel Panel

Joubert Syndrome Panel

Brain malformations Panel

Retinal Dystrophy Panel Panel

Bardet-Biedl syndrome panel Panel

Joubert Syndrome Panel Panel

MVL Vision Panel Panel

MORM syndrome Panel

Joubert syndrome 1 Panel

Joubert syndrome 1 Panel

MORM syndrome Panel

Invitae Joubert and Meckel-Gruber Syndromes Panel Panel

Invitae Ciliopathies Panel Panel

INPP5E Panel

KidneySeq - 264 Genes Panel

Retinal Dystrophy Panel Panel

Ataxia Panel Panel

Joubert Syndrome Panel Panel

Retinitis Pigmentosa Panel Panel