CAMKMT gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to CAMKMT gene

Symptoms // Phenotype % Cases
Seizures Uncommon - Between 30% and 50% cases
Low-set, posteriorly rotated ears Uncommon - Between 30% and 50% cases
Cystinuria Uncommon - Between 30% and 50% cases
Nasal speech Uncommon - Between 30% and 50% cases
Hypocalcemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Nephrolithiasis
  • Long eyelashes
  • Decreased fetal movement
  • Lactic acidosis
  • Intellectual disability, moderate
  • Global developmental delay
  • Hypoglycemia
  • Hypogonadism

And 6 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CAMKMT gene

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


2P21 MICRODELETION SYNDROME


Alternate names

2P21 MICRODELETION SYNDROME Is also known as 2p21 deletion syndrome, monosomy 2p21, del(2)(p21)

Description

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.

Most common symptoms of 2P21 MICRODELETION SYNDROME

  • Seizures
  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia


More info about 2P21 MICRODELETION SYNDROME

SOURCES: ORPHANET

ATYPICAL HYPOTONIA-CYSTINURIA SYNDROME


Alternate names

ATYPICAL HYPOTONIA-CYSTINURIA SYNDROME Is also known as atypical hcs

Description

Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).


More info about ATYPICAL HYPOTONIA-CYSTINURIA SYNDROME

SOURCES: ORPHANET

2P21 MICRODELETION SYNDROME WITHOUT CYSTINURIA


Alternate names

2P21 MICRODELETION SYNDROME WITHOUT CYSTINURIA Is also known as del(2)(p21) without cystinuria

Description

2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.


More info about 2P21 MICRODELETION SYNDROME WITHOUT CYSTINURIA

SOURCES: ORPHANET




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