KIF7 gene related symptoms and diseases

All the information presented here about the KIF7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, 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 KIF7 gene

Symptoms // Phenotype	% Cases
Agenesis of corpus callosum	Very Common - Between 80% and 100% cases
Molar tooth sign on MRI	Very Common - Between 80% and 100% cases
Low-set ears	Common - Between 50% and 80% cases
Cleft palate	Common - Between 50% and 80% cases
Hypertelorism	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with KIF7 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Cryptorchidism
Inguinal hernia
Polydactyly
Postaxial polydactyly
Not very common - Between 30% and 50% cases
Intellectual disability
Postaxial hand polydactyly
Abnormal facial shape
Clinodactyly

And 189 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to KIF7 gene

Here you will find a list of rare diseases related to the KIF7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

ACROCALLOSAL SYNDROME

Alternate names

ACROCALLOSAL SYNDROME Is also known as acs

Description

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

Most common symptoms of ACROCALLOSAL SYNDROME

Intellectual disability
Global developmental delay
Generalized hypotonia
Ataxia
Hypertelorism

More info about ACROCALLOSAL SYNDROME

SOURCES: ORPHANET OMIM

ACROCALLOSAL SYNDROME; ACLS

Alternate names

ACROCALLOSAL SYNDROME; ACLS Is also known as hallux duplication, postaxial polydactyly, and absence of corpus callosum, schinzel acrocallosal syndrome

Description

The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011).Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.Hydrolethalus-2 (HLS2 ) is an allelic disorder with a more severe phenotype and death in utero.

Most common symptoms of ACROCALLOSAL SYNDROME; ACLS

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Hearing impairment

More info about ACROCALLOSAL SYNDROME; ACLS

SOURCES: OMIM

OROFACIODIGITAL SYNDROME TYPE 6

Alternate names

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome, polydactyly-cleft lip/palate-psychomotor retardation syndrome, polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation, vÁradi-papp syndrome, joubert syndrome with orofaciodigital defect, oral-facial-digital syndrome type 6,

Description

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

Most common symptoms of OROFACIODIGITAL SYNDROME TYPE 6

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about OROFACIODIGITAL SYNDROME TYPE 6

SOURCES: ORPHANET OMIM

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Alternate names

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome, macrocephaly with multiple epiphyseal dysplasia and distinctive facies, mmedf

Description

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

Most common symptoms of MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Hypertelorism
Abnormal facial shape
Low-set ears
Motor delay
Macrocephaly

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

SOURCES: MESH ORPHANET OMIM

HYDROLETHALUS SYNDROME 2; HLS2

Description

Hydrolethalus syndrome is an autosomal recessive embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. HLS2 is considered a ciliopathy (summary by Putoux et al., 2011).Acrocallosal syndrome (ACLS ) is an allelic disorder with a less severe phenotype.For a discussion of genetic heterogeneity of hydrolethalus syndrome, see {236680}.

Most common symptoms of HYDROLETHALUS SYNDROME 2; HLS2

Micrognathia
Cleft palate
Ventriculomegaly
Hydrocephalus
Agenesis of corpus callosum

More info about HYDROLETHALUS SYNDROME 2; HLS2

SOURCES: OMIM

HYDROLETHALUS

Description

Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Most common symptoms of HYDROLETHALUS

Micrognathia
Cleft palate
Cryptorchidism
Low-set ears
Hydrocephalus

More info about HYDROLETHALUS

SOURCES: ORPHANET

Search interest in KIF7

Potential gene panels for KIF7 gene

Ciliopathies Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1

KIF7 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to KIF7 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to KIF7 gene

ACROCALLOSAL SYNDROME

Alternate names

Description

Most common symptoms of ACROCALLOSAL SYNDROME

ACROCALLOSAL SYNDROME; ACLS

Alternate names

Description

Most common symptoms of ACROCALLOSAL SYNDROME; ACLS

OROFACIODIGITAL SYNDROME TYPE 6

Alternate names

Description

Most common symptoms of OROFACIODIGITAL SYNDROME TYPE 6

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Alternate names

Description

Most common symptoms of MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

HYDROLETHALUS SYNDROME 2; HLS2

Description

Most common symptoms of HYDROLETHALUS SYNDROME 2; HLS2

HYDROLETHALUS

Description

Most common symptoms of HYDROLETHALUS

Search interest in KIF7

Potential gene panels for KIF7 gene

Ciliopathies Panel

Comprehensive Brain Malformation 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

KIF7. Complete sequencing Panel

Acrocallosal Syndrome (sequence analysis of KIF7 gene) Panel

Joubert syndrome (NGS panel for 24 genes) Panel

Ciliopathies (NGS panel for 90 genes) Panel

Joubert syndrome type 12 (deletion/duplication analysis of KIF7 gene) Panel

Joubert syndrome type 12 (deletion/duplication analysis of KIF7 gene) Panel

Acrocallosal, Fetal Hydrolethalus, and Joubert Syndromes via KIF7 Gene Sequencing with CNV Detection Panel

Congenital Limb Malformation Sequencing Panel with CNV Detection 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

Ciliopathy Sequencing Panel with CNV Detection 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

Macrocephaly Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Brain Malformations / Neuronal Migration Disorders Panel

Acrocallosal syndrome Panel

AllNeuro panel Panel

Joubert Syndrome Panel Panel

Joubert Syndrome Panel Panel

Joubert Syndrome Panel Panel

Joubert Syndrome Panel Panel

Joubert Syndrome Panel

Brain malformations Panel

Eye diseases comprehensive panel Panel

Retinal Dystrophy Panel Panel

Joubert Syndrome Panel Panel

MVL Vision Panel Panel

Invitae Joubert and Meckel-Gruber Syndromes Panel Panel

Invitae Ciliopathies Panel Panel

Joubert syndrome Panel

Eye Disorders: Comprehensive Sequencing Panel Panel

Joubert Syndrome: Sequencing Panel Panel

Ciliopathies: Sequencing Panel Panel

Brain Malformations: Sequencing Panel Panel

Limb Malformation: Sequencing Panel Panel

Neurology: Sequencing Panel Panel

Skeletal Dysplasia: Sequencing Panel Panel