Alopecia, Neurologic Defects, And Endocrinopathy Syndrome; Anes

Description

ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.

Clinical Features

Top most frequent phenotypes and symptoms related to Alopecia, Neurologic Defects, And Endocrinopathy Syndrome; Anes

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Flexion contracture
  • Skeletal muscle atrophy
  • Intellectual disability, severe
  • Renal insufficiency
  • Coma
  • Alopecia
And another 18 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Alopecia, Neurologic Defects, And Endocrinopathy Syndrome; Anes Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ANE syndrome (sequence analysis of RBM28 gene).

By CGC Genetics in Portugal.

RBM28
Specificity
100 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
RBM28.

By Fulgent Genetics Fulgent Genetics in United States.

RBM28
Specificity
100 %
Genes
100 %
ANE Syndrome , Sequencing RBM28 Gene.

By Reference Laboratory Genetics in Spain.

RBM28
Specificity
100 %
Genes
100 %

Alternate names

Alopecia, Neurologic Defects, And Endocrinopathy Syndrome; Anes Is also known as ane syndrome;alopecia-progressive neurological defect-endocrinopathy syndrome.



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