NECTIN1 gene related symptoms and diseases

All the information presented here about the NECTIN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NECTIN1 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormality of the ear Uncommon - Between 30% and 50% cases
Ectodermal dysplasia Uncommon - Between 30% and 50% cases
Nail dysplasia Uncommon - Between 30% and 50% cases
Wide intermamillary distance Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NECTIN1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Microdontia
  • Hypohidrosis
  • Bilateral single transverse palmar creases
  • Abnormality of dental enamel
  • Sparse eyelashes
  • Scrotal hypoplasia
  • Palmoplantar hyperkeratosis
  • Abnormality of dental morphology

And 92 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NECTIN1 gene

Here you will find a list of rare diseases related to the NECTIN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ZLOTOGORA-OGUR SYNDROME


Alternate names

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome, clped1, ed4, syndactyly-ectodermal dysplasia-cleft/lip palate, cleft lip/palate-syndactyly-pili torti syndrome, ectodermal dysplasia, margarita island type, ectodermal dysplasia, cleft lip and palate, mental retar

Description

Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

Most common symptoms of ZLOTOGORA-OGUR SYNDROME

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


More info about ZLOTOGORA-OGUR SYNDROME

SOURCES: ORPHANET OMIM

ROSSELLI-GULIENETTI SYNDROME


Most common symptoms of ROSSELLI-GULIENETTI SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


More info about ROSSELLI-GULIENETTI SYNDROME

SOURCES: OMIM

GILLES DE LA TOURETTE SYNDROME; GTS


Alternate names

GILLES DE LA TOURETTE SYNDROME; GTS Is also known as ts, tourette syndrome, tourette disorder

Description

Tourette syndrome is a neurobehavioral disorder manifest particularly by motor and vocal tics and associated with behavioral abnormalities. Tics are sudden, brief, intermittent, involuntary or semi-voluntary movements (motor tics) or sounds (phonic or vocal tics). They typically consist of simple, coordinated, repetitive movements, gestures, or utterances that mimic fragments of normal behavior. Motor tics may range from simple blinking, nose twitching, and head jerking to more complex throwing, hitting, or making rude gestures. Phonic tics include sniffling, throat clearing, blowing, coughing, echolalia, or coprolalia. Males are affected about 3 times more often than females, and onset usually occurs between 3 and 8 years of age. By age 18 years, more than half of affected individuals are free of tics, but they may persist into adulthood (review by Jankovic, 2001).

Most common symptoms of GILLES DE LA TOURETTE SYNDROME; GTS

  • Behavioral abnormality
  • Depressivity
  • Pectus excavatum
  • Myoclonus
  • Hyperactivity


More info about GILLES DE LA TOURETTE SYNDROME; GTS

SOURCES: MESH OMIM

CLEFT LIP AND ALVEOLUS


Description

Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.


More info about CLEFT LIP AND ALVEOLUS

SOURCES: ORPHANET

ISOLATED CLEFT LIP


Description

Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.


More info about ISOLATED CLEFT LIP

SOURCES: ORPHANET

CLEFT LIP/PALATE


Alternate names

CLEFT LIP/PALATE Is also known as flp, cleft lip-alveolus-palate syndrome, alveolar cleft lip and palate, cleft lip and palate

Description

Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.


More info about CLEFT LIP/PALATE

SOURCES: ORPHANET


Potential gene panels for NECTIN1 gene

Ectodermal Dysplasia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ectodermal Dysplasia Sequencing Panel with CNV Detection that also includes the following genes: WNT10A EDARADD EDAR EDA KRT85 NECTIN1

More info about this panel

Ectodermal Dysplasia via NECTIN1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NECTIN1 gene.

More info about this panel

Cleft lip, cleft palate and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Cleft lip, cleft palate and related disorders NGS panel that also includes the following genes: BMP4 TBX22 SUMO1 TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2

More info about this panel

Cleft lip, cleft palate and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cleft lip, cleft palate and related disorders Deletion / Duplication panel that also includes the following genes: BMP4 TBX22 SUMO1 TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2

More info about this panel

Cleft lip, cleft palate and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cleft lip, cleft palate and related disorders Comprehensive panel that also includes the following genes: BMP4 TBX22 SUMO1 TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2

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

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Orofacial cleft type 7 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NECTIN1 gene.

More info about this panel

Cleft lip/palate panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cleft lip/palate panel that also includes the following genes: BMP4 SUMO1 TP63 IRF6 MSX1 NECTIN1

More info about this panel

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

PVRL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NECTIN1 gene.

More info about this panel

NECTIN1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NECTIN1 gene.

More info about this panel

ZLOTOGORA-OGUR SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the NECTIN1 gene.

More info about this panel


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