ANES
MCID: ALP041
MIFTS: 38

Alopecia, Neurologic Defects, and Endocrinopathy Syndrome (ANES)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

MalaCards integrated aliases for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:

Name: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 58 76 30 13 6 41 74
Ane Syndrome 58 60 76
Endocrine System Diseases 45 74
Anes 58 76
Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome 60
Alopecia-Progressive Neurological Defect-Endocrinopathy 76
Alopecia Neurologic Defects and Endocrinopathy Syndrome 38
Endocrine System Disease 17

Characteristics:

Orphanet epidemiological data:

60
ane syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
endocrine defects evolve over time
based on report of 5 brothers of arab-moslem descent (last curated february 2015)


HPO:

33
alopecia, neurologic defects, and endocrinopathy syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

UniProtKB/Swiss-Prot : 76 Alopecia, neurologic defects, and endocrinopathy syndrome: Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat.

MalaCards based summary : Alopecia, Neurologic Defects, and Endocrinopathy Syndrome, also known as ane syndrome, is related to hair-an syndrome and hemophagocytic syndrome associated with an infection, and has symptoms including cushingoid facies, pathological conditions, signs and symptoms and breast pain male. An important gene associated with Alopecia, Neurologic Defects, and Endocrinopathy Syndrome is RBM28 (RNA Binding Motif Protein 28), and among its related pathways/superpathways is Ribosome biogenesis in eukaryotes. Affiliated tissues include skin, pituitary and brain, and related phenotypes are intellectual disability and carious teeth

Description from OMIM: 612079

Related Diseases for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Diseases related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 10712)
# Related Disease Score Top Affiliating Genes
1 hair-an syndrome 12.3
2 hemophagocytic syndrome associated with an infection 12.2
3 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.2
4 sickle cell disease associated with an other hemoglobin anomaly 12.0
5 silver-russell syndrome due to an imprinting defect of 11p15 12.0
6 aniridia 1 11.7
7 acanthosis nigricans 11.6
8 anorexia nervosa 11.6
9 acute necrotizing encephalopathy 11.5
10 encephalopathy, acute, infection-induced 4 11.5
11 schizophrenia 1 11.5
12 schizophrenia 11.5
13 polydactyly, preaxial iii 11.5
14 schizophrenia 3 11.3
15 schizophrenia 7 11.3
16 schizophrenia 8 11.3
17 blood group--ahonen 11.3
18 schizophrenia 15 11.1
19 schizophrenia 18 11.1
20 schizophrenia 19 11.1
21 schizophrenia 5 11.0
22 schizophrenia 9 11.0
23 bile duct cystadenocarcinoma 11.0
24 morel's ear 11.0
25 ataxia neuropathy spectrum 11.0
26 immunodeficiency due to a classical component pathway complement deficiency 11.0
27 leukemia 11.0
28 breast cancer 10.9
29 multiple sclerosis 10.9
30 aortic aneurysm 10.9
31 hepatitis 10.9
32 arthritis 10.9
33 meningitis 10.9
34 influenza 10.9
35 asthma 10.8
36 atrial fibrillation 10.8
37 arteriovenous malformation 10.8
38 rheumatoid arthritis 10.8
39 anxiety 10.8
40 myocardial infarction 10.8
41 endocarditis 10.8
42 prostate cancer 10.8
43 encephalopathy 10.8
44 ovarian cancer 10.8
45 pneumonia 10.8
46 hepatitis c 10.8
47 vascular disease 10.8
48 melanoma 10.8
49 autoimmune disease 10.8
50 polycythemia vera 10.8

Comorbidity relations with Alopecia, Neurologic Defects, and Endocrinopathy Syndrome via Phenotypic Disease Network (PDN):


Acute Cystitis Hypertension, Essential

Graphical network of the top 20 diseases related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:



Diseases related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Symptoms & Phenotypes for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Human phenotypes related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 carious teeth 33 HP:0000670
3 microcephaly 33 HP:0000252
4 flexion contracture 33 HP:0001371
5 delayed puberty 33 HP:0000823
6 skeletal muscle atrophy 33 HP:0003202
7 motor deterioration 33 HP:0002333
8 melanocytic nevus 33 HP:0000995
9 alopecia 33 HP:0001596
10 kyphoscoliosis 33 HP:0002751
11 hypogonadism 33 HP:0000135
12 hypodontia 33 HP:0000668
13 gynecomastia 33 HP:0000771
14 adrenal insufficiency 33 HP:0000846
15 hyperpigmentation of the skin 33 HP:0000953
16 upper motor neuron dysfunction 33 HP:0002493
17 reduced subcutaneous adipose tissue 33 HP:0003758
18 central adrenal insufficiency 33 HP:0011734
19 ulnar deviation of the hand or of fingers of the hand 33 HP:0001193
20 ulnar deviation of the hand 33 HP:0009487

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
kyphoscoliosis

Chest Breasts:
gynecomastia

Neurologic Central Nervous System:
upper motor neuron dysfunction
mental retardation, moderate to severe
motor deterioration in second decade
lower motor neuron dysfunction
brain mri shows hypoplastic pituitary

Skin Nails Hair Skin:
pigmented nevi
hyperpigmentation in flexure areas

Skeletal Hands:
ulnar deviation of the hands

Skin Nails Hair Hair:
alopecia, variable severity
scalp biopsy shows absence of mature hair follicles

Head And Neck Teeth:
hypodontia
dental caries
early teeth loss

Muscle Soft Tissue:
decreased subcutaneous fat
muscle atrophy

Endocrine Features:
central adrenal insufficiency
hypogonadotropic hypogonadism
low testosterone levels
absent or delayed puberty
low insulin-like growth factor-1 (igf1) concentration
more
Skeletal:
joint contractures

Head And Neck Head:
decreased head circumference

Clinical features from OMIM:

612079

UMLS symptoms related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:


cushingoid facies, pathological conditions, signs and symptoms, breast pain male

Drugs & Therapeutics for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Search Clinical Trials , NIH Clinical Center for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Cochrane evidence based reviews: endocrine system diseases

Genetic Tests for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Genetic tests related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:

# Genetic test Affiliating Genes
1 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 30 RBM28

Anatomical Context for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

MalaCards organs/tissues related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:

42
Skin, Pituitary, Brain, Breast, Skeletal Muscle, Thyroid

Publications for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Articles related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:

# Title Authors Year
1
The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome. ( 27077951 )
2016
2
RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63. ( 25939713 )
2015
3
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency. ( 20231366 )
2010

Variations for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 RBM28 p.Leu351Pro VAR_045655 rs118204055

ClinVar genetic disease variations for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RBM28 NM_018077.2(RBM28): c.1052T> C (p.Leu351Pro) single nucleotide variant Pathogenic rs118204055 GRCh37 Chromosome 7, 127970949: 127970949
2 RBM28 NM_018077.2(RBM28): c.1052T> C (p.Leu351Pro) single nucleotide variant Pathogenic rs118204055 GRCh38 Chromosome 7, 128330896: 128330896

Expression for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Search GEO for disease gene expression data for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome.

Pathways for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Pathways related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008

GO Terms for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Sources for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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