POC1A gene related symptoms and diseases

All the information presented here about the POC1A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to POC1A gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Azoospermia Very Common - Between 80% and 100% cases
Short distal phalanx of finger Very Common - Between 80% and 100% cases
Downturned corners of mouth Very Common - Between 80% and 100% cases
Small hand Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with POC1A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Triangular face
  • Broad nasal tip
  • Short metacarpal
  • Prominent nose
  • Waddling gait
  • Nail dysplasia
  • Type II diabetes mellitus
  • Small nail

And 54 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to POC1A gene

Here you will find a list of rare diseases related to the POC1A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME


Alternate names

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Description

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

Most common symptoms of SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for POC1A gene

Comprehensive Primordial Dwarfism Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Primordial Dwarfism Panel that also includes the following genes: PLK4 XRCC4 CRIPT PCNT ORC6 CENPJ CDC6 GMNN RTTN CDK5RAP2

More info about this panel

Primordial Dwarfism via POC1A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the POC1A gene.

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

Selected Genetic Syndromes with skeletal involvement Panel Panel

Germany.

By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6

More info about this panel

Neurology: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3

More info about this panel

POC1A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the POC1A gene.

More info about this panel

Comprehensive Short Stature Syndrome Panel Panel

Finland.

By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B

More info about this panel

3-M Syndrome / Primordial Dwarfism Panel Panel

Finland.

By Blueprint Genetics 3-M Syndrome / Primordial Dwarfism Panel that also includes the following genes: BCS1L XRCC4 PCNT SRCAP ORC6 CENPJ CDC45 CDC6 RTTN CUL7

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel


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