Details of Disease | DrugMAP

General Information of Disease (ID: DISZFU6A)

Disease Name	ANE syndrome
Synonyms	alopecia, neurologic defects, and endocrinopathy syndrome; anes; ANE syndrome; alopecia-progressive neurological defect-endocrinopathy syndrome
Definition	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.
Disease Hierarchy	DISC4U0P: Non-acquired combined pituitary hormone deficiency DIS6SVEE: Syndromic disease DISTXWNT: Integumentary system disorder DISEV092: Congenital hypogonadotropic hypogonadism DISZFU6A: ANE syndrome
Disease Identifiers	MONDO ID MONDO_0012794 MESH ID C567425 UMLS CUI C2677535 OMIM ID 612079 MedGen ID 394313 Orphanet ID 157954 SNOMED CT ID 770941005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RBM28	OT9A48WV	Strong	Autosomal recessive	[1]
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References

1	Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome. Proc Natl Acad Sci U S A. 2021 May 11;118(19):e2017777118. doi: 10.1073/pnas.2017777118.