MCID: ALP041
MIFTS: 37

Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Categories: Genetic diseases, Neuronal diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Rare 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 53 71 28 13 69
Ane Syndrome 53 55 71
Endocrine System Diseases 41 69
Anes 53 71
Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome 55
Alopecia-Progressive Neurological Defect-Endocrinopathy 71
Alopecia Neurologic Defects and Endocrinopathy Syndrome 36
Abnormality of the Endocrine System 28

Characteristics:

Orphanet epidemiological data:

55
ane syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
alopecia, neurologic defects, and endocrinopathy syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

UniProtKB/Swiss-Prot : 71 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 intellectual disability, carious teeth and microcephaly. 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, brain and breast.

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 4138)
# Related Disease Score Top Affiliating Genes
1 hair-an syndrome 12.1
2 hemophagocytic syndrome associated with an infection 12.0
3 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.0
4 sickle cell disease associated with an other hemoglobin anomaly 11.9
5 silver-russell syndrome due to an imprinting defect of 11p15 11.9
6 polydactyly of an index finger, unilateral 11.9
7 polydactyly of an index finger, bilateral 11.9
8 aniridia 1 11.5
9 acanthosis nigricans 11.5
10 acute necrotizing encephalopathy 11.4
11 schizophrenia 11.3
12 polydactyly, preaxial iii 11.3
13 anorexia nervosa 1 11.2
14 encephalopathy, acute, infection-induced 4 11.1
15 schizophrenia 1 11.1
16 schizophrenia 15 10.9
17 schizophrenia 18 10.9
18 schizophrenia 19 10.9
19 aneurysm 10.8
20 blood group--ahonen 10.8
21 schizophrenia 3 10.8
22 schizophrenia 5 10.8
23 schizophrenia 7 10.8
24 schizophrenia 8 10.8
25 schizophrenia 9 10.8
26 bile duct cystadenocarcinoma 10.8
27 morel's ear 10.8
28 ataxia neuropathy spectrum 10.8
29 immunodeficiency due to a classical component pathway complement deficiency 10.8
30 leukemia 10.7
31 aortic aneurysm 10.7
32 hydrocephalus 10.7
33 meningitis 10.7
34 hepatitis 10.6
35 asthma 10.6
36 multiple sclerosis 10.6
37 pneumonia 10.6
38 episodic pain syndrome, familial, 1 10.6
39 rheumatoid arthritis 10.6
40 barth syndrome 10.6
41 vaginitis 10.6
42 fibrosis of extraocular muscles, congenital, 1 10.6
43 arteriovenous malformation 10.6
44 myocardial infarction 10.6
45 antiphospholipid syndrome 10.6
46 cerebritis 10.6
47 encephalopathy 10.6
48 ovarian cancer 10.6
49 aortic aneurysm, familial abdominal, 1 10.6
50 endocarditis 10.6

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Teeth:
hypodontia
dental caries
early teeth loss

Skeletal Spine:
kyphoscoliosis

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

Chest Breasts:
gynecomastia

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

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

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 carious teeth 31 HP:0000670
3 microcephaly 31 HP:0000252
4 flexion contracture 31 HP:0001371
5 delayed puberty 31 HP:0000823
6 skeletal muscle atrophy 31 HP:0003202
7 motor deterioration 31 HP:0002333
8 melanocytic nevus 31 HP:0000995
9 alopecia 31 HP:0001596
10 hypogonadism 31 HP:0000135
11 hypodontia 31 HP:0000668
12 gynecomastia 31 HP:0000771
13 kyphoscoliosis 31 HP:0002751
14 hyperpigmentation of the skin 31 HP:0000953
15 upper motor neuron dysfunction 31 HP:0002493
16 reduced subcutaneous adipose tissue 31 HP:0003758
17 central adrenal insufficiency 31 HP:0011734
18 ulnar deviation of the hand 31 HP:0009487

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


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

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 28 RBM28
2 Abnormality of the Endocrine System 28

Anatomical Context for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

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

38
Skin, Brain, Breast, Skeletal Muscle, Thyroid, Pituitary

Publications for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

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

# Title Authors Year
1
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. ( 18439547 )
2008

Variations for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

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

71
# 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

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:

36
# 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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