OFD1 gene related symptoms and diseases

All the information presented here about the OFD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,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 OFD1 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Common - Between 50% and 80% cases
Epicanthus	Common - Between 50% and 80% cases
Low-set ears	Uncommon - Between 30% and 50% cases
Hypertelorism	Uncommon - Between 30% and 50% cases
Cleft palate	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with OFD1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
High palate
Wide nasal bridge
Frontal bossing
Seizures
Tongue nodules
Clinodactyly
Lobulated tongue
Postaxial polydactyly

And 261 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to OFD1 gene

Here you will find a list of rare diseases related to the OFD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

OROFACIODIGITAL SYNDROME TYPE 1

Alternate names

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1, papillon-lÉage-psaume syndrome, ofdsi, oral-facial-digital syndrome type 1, ofdi

Description

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

Most common symptoms of OROFACIODIGITAL SYNDROME TYPE 1

Intellectual disability
Seizures
Hearing impairment
Ataxia
Hypertelorism

More info about OROFACIODIGITAL SYNDROME TYPE 1

SOURCES: ORPHANET

OROFACIODIGITAL SYNDROME I; OFD1

Alternate names

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i, papillon-leage and psaume syndrome, ofds i

Description

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

Most common symptoms of OROFACIODIGITAL SYNDROME I; OFD1

Intellectual disability
Seizures
Short stature
Hearing impairment
Microcephaly

More info about OROFACIODIGITAL SYNDROME I; OFD1

SOURCES: OMIM

SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

Description

An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Most common symptoms of SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

Intellectual disability
Global developmental delay
Generalized hypotonia
Hypertelorism
Abnormal facial shape

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

SOURCES: OMIM MESH ORPHANET

RETINITIS PIGMENTOSA 23; RP23

Most common symptoms of RETINITIS PIGMENTOSA 23; RP23

Cataract
Visual loss
Rod-cone dystrophy
Pallor
Nyctalopia

More info about RETINITIS PIGMENTOSA 23; RP23

SOURCES: OMIM

PRIMARY CILIARY DYSKINESIA

Alternate names

PRIMARY CILIARY DYSKINESIA Is also known as ics, polynesian bronchiectasis, ciliary dyskinesia, primary, 1, with or without situs inversus, pcd, immotile cilia syndrome

Description

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).

Most common symptoms of PRIMARY CILIARY DYSKINESIA

Hearing impairment
Ventriculomegaly
Respiratory distress
Hydrocephalus
Headache

More info about PRIMARY CILIARY DYSKINESIA

SOURCES: ORPHANET OMIM

JOUBERT SYNDROME 10; JBTS10

Description

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Most common symptoms of JOUBERT SYNDROME 10; JBTS10

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Ataxia

More info about JOUBERT SYNDROME 10; JBTS10

SOURCES: OMIM MESH

RETINITIS PIGMENTOSA

Description

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Most common symptoms of RETINITIS PIGMENTOSA

Intellectual disability
Nystagmus
Sensorineural hearing impairment
Cataract
Visual impairment

More info about RETINITIS PIGMENTOSA

SOURCES: ORPHANET

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

X-LINKED RECESSIVE INTELLECTUAL DISABILITY-MACROCEPHALY-CILIARY DYSFUNCTION SYNDROME

Description

X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome combining intellectual deficit, ciliary dysfunction and macrocephalus has been described in several males from one large family. Ciliary dysfunction leads to recurrent pulmonary infections and death in most cases. This syndrome is a recessive X-liked mental retardation and has been associated with mutations in the OFD1 gene, known to be involved in oral-facial-digital syndrome.

More info about X-LINKED RECESSIVE INTELLECTUAL DISABILITY-MACROCEPHALY-CILIARY DYSFUNCTION SYNDROME

SOURCES: OMIM ORPHANET

Search interest in OFD1

Potential gene panels for OFD1 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

OFD1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to OFD1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to OFD1 gene

OROFACIODIGITAL SYNDROME TYPE 1

Alternate names

Description

Most common symptoms of OROFACIODIGITAL SYNDROME TYPE 1

OROFACIODIGITAL SYNDROME I; OFD1

Alternate names

Description

Most common symptoms of OROFACIODIGITAL SYNDROME I; OFD1

SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

Description

Most common symptoms of SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

RETINITIS PIGMENTOSA 23; RP23

Most common symptoms of RETINITIS PIGMENTOSA 23; RP23

PRIMARY CILIARY DYSKINESIA

Alternate names

Description

Most common symptoms of PRIMARY CILIARY DYSKINESIA

JOUBERT SYNDROME 10; JBTS10

Description

Most common symptoms of JOUBERT SYNDROME 10; JBTS10

RETINITIS PIGMENTOSA

Description

Most common symptoms of RETINITIS PIGMENTOSA

OROFACIODIGITAL SYNDROME TYPE 6

Alternate names

Description

Most common symptoms of OROFACIODIGITAL SYNDROME TYPE 6

X-LINKED RECESSIVE INTELLECTUAL DISABILITY-MACROCEPHALY-CILIARY DYSFUNCTION SYNDROME

Description

Search interest in OFD1

Potential gene panels for OFD1 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

NGS XLID Panel Panel

Comprehensive Pulmonary Panel Panel

Retinitis Pigmentosa Panel Panel

Primary Ciliary Dyskinesia and Cystic Fibrosis Panel Panel

Ciliopathies Panel

Comprehensive Brain Malformation Panel Panel

Joubert Syndrome Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

Joubert/Meckel-Gruber syndrome Panel Panel

Macrocephaly Deletion/Duplication Panel Panel

OFD1 sequencing Panel

Renal Cystic Disorders Sequencing Panel Panel

Non-Specific Intellectual Disability Panel Panel

OFD1 deletion/duplication analysis Panel

X-linked Non-Specific Intellectual Disability Panel Panel

Macrocephaly Sequencing Panel Panel

Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel Panel

Ataxia Exome Panel Panel

OFD1 Panel

OFD1 Remaining Exons Sequencing Panel

OFD1 Select Exons Sequencing Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

PCDNext Panel

IDNext Panel

TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, CEP41, TMEM237. NextGeneDx.Complete sequencing by NGS Panel

OFD1. Complete sequencing Panel

Primary Ciliary Dyskinesia Seq + Del/Dup Panel Panel

Primary Ciliary Dyskinesia Seq Analysis Panel

Comprehensive Pulmonary-Vascular Seq Analysis Panel

Comprehensive Pulmonary-Vascular Del/Dup Panel Panel

Primary Ciliary Dyskinesia Del/Dup Panel Panel

Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel

Joubert syndrome (NGS panel for 24 genes) Panel

Oral-facial-digital syndrome 1 (sequence analysis of OFD1 gene) Panel

Ciliopathies (NGS panel for 90 genes) Panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel with CNV Detection Panel

OFD1-Related Disorders via OFD1 Gene Sequencing with CNV Detection Panel

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