SLC25A24 gene related symptoms and diseases

All the information presented here about the SLC25A24 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 SLC25A24 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Short distal phalanx of finger Very Common - Between 80% and 100% cases
Prematurely aged appearance Very Common - Between 80% and 100% cases
Reduced subcutaneous adipose tissue Very Common - Between 80% and 100% cases
Redundant skin Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SLC25A24 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Generalized hirsutism
  • Failure to thrive
  • Everted lower lip vermilion
  • Wide anterior fontanel
  • Broad forehead
  • Intrauterine growth retardation
  • Sparse hair
  • Umbilical hernia

And 127 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SLC25A24 gene

Here you will find a list of rare diseases related to the SLC25A24. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PROGEROID SYNDROME, PETTY TYPE


Alternate names

PROGEROID SYNDROME, PETTY TYPE Is also known as petty syndrome, petty-laxova-wiedemann syndrome

Description

Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

Most common symptoms of PROGEROID SYNDROME, PETTY TYPE

  • Short stature
  • Failure to thrive
  • Strabismus
  • Epicanthus
  • Intrauterine growth retardation


More info about PROGEROID SYNDROME, PETTY TYPE

SOURCES: ORPHANET

GORLIN-CHAUDHRY-MOSS SYNDROME


Alternate names

GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome, gorlin-chaudhry-moss syndrome, craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence, craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Description

Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

Most common symptoms of GORLIN-CHAUDHRY-MOSS SYNDROME

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


More info about GORLIN-CHAUDHRY-MOSS SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for SLC25A24 gene

Craniosynostosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis Deletion / Duplication panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis Comprehensive panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis NGS panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Progeroid syndromes and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Progeroid syndromes and related disorders NGS panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4

More info about this panel

Progeroid syndromes and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Progeroid syndromes and related disorders Comprehensive panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4

More info about this panel

Progeroid syndromes and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Progeroid syndromes and related disorders Deletion / Duplication panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4

More info about this panel

SLC25A24 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC25A24 gene.

More info about this panel


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