MCID: ALP041
MIFTS: 36

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 57 75 29 13 6 40 73
Ane Syndrome 57 59 75
Endocrine System Diseases 44 73
Anes 57 75
Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome 59
Alopecia-Progressive Neurological Defect-Endocrinopathy 75
Alopecia Neurologic Defects and Endocrinopathy Syndrome 37

Characteristics:

Orphanet epidemiological data:

59
ane syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
alopecia, neurologic defects, and endocrinopathy syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

UniProtKB/Swiss-Prot : 75 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 pathological conditions, signs and symptoms, breast pain male and cushingoid facies. 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, 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 4316)
# Related Disease Score Top Affiliating Genes
1 hair-an syndrome 12.2
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 aniridia 1 11.5
7 acanthosis nigricans 11.5
8 anorexia nervosa 11.4
9 acute necrotizing encephalopathy 11.4
10 encephalopathy, acute, infection-induced 4 11.3
11 schizophrenia 1 11.3
12 schizophrenia 11.3
13 polydactyly, preaxial iii 11.3
14 schizophrenia 3 11.1
15 schizophrenia 7 11.1
16 schizophrenia 8 11.1
17 schizophrenia 15 10.9
18 schizophrenia 18 10.9
19 schizophrenia 19 10.9
20 aneurysm 10.8
21 blood group--ahonen 10.8
22 schizophrenia 5 10.8
23 schizophrenia 9 10.8
24 bile duct cystadenocarcinoma 10.8
25 morel's ear 10.8
26 ataxia neuropathy spectrum 10.8
27 immunodeficiency due to a classical component pathway complement deficiency 10.8
28 parathyroid gland disease 10.8
29 thyroid gland disease 10.8
30 adrenal gland disease 10.8
31 breast cancer 10.7
32 leukemia 10.7
33 rheumatoid arthritis 10.7
34 hepatitis 10.7
35 prostate cancer 10.6
36 meningitis 10.6
37 aortic aneurysm 10.6
38 asthma 10.6
39 multiple sclerosis 10.6
40 pneumonia 10.6
41 arthritis 10.6
42 atrial fibrillation 10.6
43 ovarian cancer 10.6
44 cerebritis 10.6
45 hemophilia 10.6
46 aging 10.6
47 lung cancer 10.6
48 encephalopathy 10.6
49 anxiety 10.6
50 vaginitis 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:

57
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:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 carious teeth 32 HP:0000670
3 microcephaly 32 HP:0000252
4 flexion contracture 32 HP:0001371
5 delayed puberty 32 HP:0000823
6 skeletal muscle atrophy 32 HP:0003202
7 motor deterioration 32 HP:0002333
8 melanocytic nevus 32 HP:0000995
9 alopecia 32 HP:0001596
10 hypogonadism 32 HP:0000135
11 hypodontia 32 HP:0000668
12 gynecomastia 32 HP:0000771
13 kyphoscoliosis 32 HP:0002751
14 adrenal insufficiency 32 HP:0000846
15 hyperpigmentation of the skin 32 HP:0000953
16 upper motor neuron dysfunction 32 HP:0002493
17 reduced subcutaneous adipose tissue 32 HP:0003758
18 central adrenal insufficiency 32 HP:0011734
19 ulnar deviation of the hand or of fingers of the hand 32 HP:0001193
20 ulnar deviation of the hand 32 HP:0009487

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


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

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 29 RBM28

Anatomical Context for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

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

41
Skin, Brain, Breast, Skeletal Muscle, Pituitary, Thyroid

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:

75
# 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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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