NALCN gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to NALCN gene

Symptoms // Phenotype % Cases
Scoliosis Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Talipes equinovarus Common - Between 50% and 80% cases
Narrow mouth Common - Between 50% and 80% cases
Ulnar deviation of finger Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with NALCN gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Camptodactyly
  • Micrognathia
  • Wide nasal bridge
  • Joint stiffness
  • Adducted thumb
  • Not very common - Between 30% and 50% cases

  • Short stature
  • Congenital contracture
  • Arthrogryposis multiplex congenita

And 175 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NALCN gene

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


FREEMAN-SHELDON SYNDROME


Alternate names

FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy, craniocarpotarsal dysplasia, distal arthrogryposis type 2a, whistling face syndrome

Description

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

Most common symptoms of FREEMAN-SHELDON SYNDROME

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


More info about FREEMAN-SHELDON SYNDROME

SOURCES: ORPHANET

DIGITOTALAR DYSMORPHISM


Alternate names

DIGITOTALAR DYSMORPHISM Is also known as ulnar drift, hereditary, da1, distal arthrogryposis type 1, da1a

Description

Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term).

Most common symptoms of DIGITOTALAR DYSMORPHISM

  • Flexion contracture
  • Talipes equinovarus
  • Narrow mouth
  • Camptodactyly
  • Joint stiffness


More info about DIGITOTALAR DYSMORPHISM

SOURCES: ORPHANET OMIM

SHELDON-HALL SYNDROME


Alternate names

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities, sheldon-hall syndrome, shs, distal arthrogryposis type 2b, fssv, arthrogryposis multiplex congenita, distal, type 2b, freeman-sheldon syndrome variant

Description

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

Most common symptoms of SHELDON-HALL SYNDROME

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


More info about SHELDON-HALL SYNDROME

SOURCES: OMIM ORPHANET

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5


Alternate names

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib, arthrogryposis, distal, type iib, arthrogryposis with oculomotor limitation and electroretinal abnormalities, oculomelic amyoplasia

Description

Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

Most common symptoms of ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

SOURCES: OMIM

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1


Alternate names

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 Is also known as ihprf

Description

Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic FaciesSee also IHPRF2 (OMIM ), caused by mutation in the UNC80 gene (OMIM ) on chromosome 2q34; and IHPRF3 (OMIM ), caused by mutation in the TBCK gene (OMIM ) on chromosome 4q24.

Most common symptoms of HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

SOURCES: OMIM

CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD


Description

CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015).

Most common symptoms of CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia


More info about CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD

SOURCES: OMIM

HYPOTONIA-SPEECH IMPAIRMENT-SEVERE COGNITIVE DELAY SYNDROME


Alternate names

HYPOTONIA-SPEECH IMPAIRMENT-SEVERE COGNITIVE DELAY SYNDROME Is also known as infantile hypotonia-psychomotor retardation-characteristic facies syndrome, ihprf syndrome

Description

Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).


More info about HYPOTONIA-SPEECH IMPAIRMENT-SEVERE COGNITIVE DELAY SYNDROME

SOURCES: ORPHANET


Potential gene panels for NALCN gene

NGS Epilepsy/Seizure Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel

Congenital Contractures Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6

More info about this panel

Distal Arthrogryposis Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Distal Arthrogryposis Deletion/Duplication Panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN CHST14 PIEZO2 ECEL1 FBN2 MYBPC1 MYH3

More info about this panel

Distal Arthrogryposis Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Distal Arthrogryposis Sequencing Panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN CHST14 PIEZO2 ECEL1 FBN2 MYBPC1 MYH3

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Distal Arthrogryposis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Distal Arthrogryposis Sequencing Panel with CNV Detection that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN CHST14 PIEZO2 ECEL1 FBN2 MYBPC1 MYH3

More info about this panel

Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection that also includes the following genes: PANK2 NALCN FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL

More info about this panel

Congenital contracture syndrome extended NGS panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Congenital contracture syndrome extended Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Congenital contracture syndrome extended Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Distal arthrogryposes NGS panel Panel

United States.

By Connective Tissue Gene Tests Distal arthrogryposes NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN PIEZO2 ECEL1 FBN2 MYBPC1 MYH3 MYH8

More info about this panel

Distal arthrogryposes Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Distal arthrogryposes Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN PIEZO2 ECEL1 FBN2 MYBPC1 MYH3 MYH8

More info about this panel

Distal arthrogryposes Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Distal arthrogryposes Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN PIEZO2 ECEL1 FBN2 MYBPC1 MYH3 MYH8

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Neuroaxonal neurodegeneration, infantile, with facial dysmophism Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NALCN gene.

More info about this panel

Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel

Germany.

By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

NALCN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NALCN gene.

More info about this panel

Arthrogryposes Panel Panel

Finland.

By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B

More info about this panel

ARTHROGRYPOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ARTHROGRYPOSIS NGS PANEL that also includes the following genes: TNNI2 TNNT3 TPM2 UBA1 VPS33B SYNE1 FKBP10 NALCN VIPAS39 ZC4H2

More info about this panel

Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay , Sequencing NALCN Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NALCN gene.

More info about this panel


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