ANE syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ANE SYNDROME
Alopecia - progressive neurological defect - endocrinopathy
Number of Symptoms 30
OrphanetNr: 157954
OMIM Id: 612079
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Alopecia
 -Rare genetic disease
 -Rare skin disease
Disease associated with nonacquired combined pituitary hormone deficiency
 -Rare endocrine disease
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with hypogonadotropic hypogonadism
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
2
 (HPO:0000135) Hypogonadism 89 / 7739
3
 (HPO:0000670) Carious teeth 145 / 7739
4
 (HPO:0000668) Hypodontia 81 / 7739
5
 (HPO:0006480) Premature loss of teeth 23 / 7739
6
 (HPO:0000252) Microcephaly 832 / 7739
7
 (HPO:0002493) Upper motor neuron dysfunction 5 / 7739
8
 (HPO:0002333) Motor deterioration 7 / 7739
9
 (HPO:0001249) Intellectual disability 1089 / 7739
10
 (HPO:0000771) Gynecomastia 53 / 7739
11
 (HPO:0011734) Central adrenal insufficiency 2 / 7739
12
 (HPO:0000823) Delayed puberty 65 / 7739
13
 (HPO:0002751) Kyphoscoliosis 131 / 7739
14
 (HPO:0001193) Ulnar deviation of the hand or of fingers of the hand 17 / 7739
15
 (HPO:0001371) Flexion contracture 220 / 7739
16
 (HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
17
 (HPO:0000995) Melanocytic nevus 63 / 7739
18
 (HPO:0001596) Alopecia 162 / 7739
19
 (HPO:0000953) Hyperpigmentation of the skin 75 / 7739
20
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
21
 (OMIM) Upper motor neuron dysfunction 1 / 7739
22
 (OMIM) Scalp biopsy shows absence of mature hair follicles 1 / 7739
23
 (OMIM) Motor deterioration in second decade 1 / 7739
24
 (OMIM) Alopecia, variable severity 1 / 7739
25
 (OMIM) Absent or delayed puberty 11 / 7739
26
 (OMIM) Lower motor neuron dysfunction 1 / 7739
27
 (OMIM) Brain MRI shows hypoplastic pituitary 1 / 7739
28
 (OMIM) Mental retardation, moderate to severe 20 / 7739
29
 (OMIM) Hyperpigmentation in flexure areas 1 / 7739
30
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nousbeck et al. (2008) reported a consanguineous family of Arab Moslem descent in which 5 brothers had a complex phenotype characterized by alopecia, neurologic defects, and endocrinopathy (ANE syndrome). The patients had hair loss of variable severity, ranging ...
Molecular genetics OMIM In affected members of a consanguineous family with ANE syndrome, Nousbeck et al. (2008) identified a homozygous mutation in the RBM28 gene (612074.0001).