KDM1A gene related symptoms and diseases

All the information presented here about the KDM1A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KDM1A gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Widely spaced teeth Very Common - Between 80% and 100% cases
Tapered finger Very Common - Between 80% and 100% cases
Delayed myelination Very Common - Between 80% and 100% cases
Apraxia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KDM1A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Blue sclerae
  • Hypertrichosis
  • Exotropia
  • Short thumb
  • Abnormal vertebral morphology
  • Clonus
  • Finger clinodactyly
  • Oculomotor apraxia

And 44 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KDM1A gene

Here you will find a list of rare diseases related to the KDM1A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME


Alternate names

PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME Is also known as palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Description

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

Most common symptoms of PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


More info about PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for KDM1A gene

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 TAF1 TAF6 MED12 HDAC8

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

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

KABUKI/KABUKI-LIKE SYNDROME NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL KABUKI/KABUKI-LIKE SYNDROME NGS PANEL that also includes the following genes: SIX1 SIX5 KDM6A MACROD2 CHD7 KDM1A EYA1 FLNB HNRNPK IRF6

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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