MCID: ALP041
MIFTS: 28

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 54 24 71 29 13 69
Ane Syndrome 24 56 71
Endocrine System Diseases 42 69
Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome 56
Alopecia-Progressive Neurological Defect-Endocrinopathy 71
Anes 71

Characteristics:

Orphanet epidemiological data:

56
ane syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

54
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 : 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 thyroid gland disease, and has symptoms including microcephaly, alopecia and kyphoscoliosis. An important gene associated with Alopecia, Neurologic Defects, and Endocrinopathy Syndrome is RBM28 (RNA Binding Motif Protein 28). Affiliated tissues include skin, brain and skeletal muscle.

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 all 13)
id Related Disease Score Top Affiliating Genes
1 hair-an syndrome 12.0
2 thyroid gland disease 10.7
3 pituitary gland disease 10.7
4 adrenal gland disease 10.7
5 cortisone reductase deficiency 10.7
6 parathyroid gland disease 10.7
7 gonadal disease 10.7
8 pancreas disease 10.7
9 alopecia 9.9
10 acanthosis nigricans 9.3
11 hyperandrogenism 9.2
12 combined pituitary hormone deficiency 9.0
13 mood disorder 9.0

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:

54

Skeletal:
joint contractures

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

Endocrine Features:
hypogonadotropic hypogonadism
low testosterone levels
absent or delayed puberty
central adrenal insufficiency
low insulin-like growth factor-1 (igf1) concentration
more
Neurologic- Central Nervous System:
mental retardation, moderate to severe
motor deterioration in second decade
upper motor neuron dysfunction
lower motor neuron dysfunction
brain mri shows hypoplastic pituitary

Head And Neck- Head:
decreased head circumference

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

Skeletal- Spine:
kyphoscoliosis

Muscle Soft Tissue:
muscle atrophy
decreased subcutaneous fat

Chest- Breasts:
gynecomastia

Skeletal- Hands:
ulnar deviation of the hands

Skin Nails & Hair- Skin:
hyperpigmentation in flexure areas
pigmented nevi


Clinical features from OMIM:

612079

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

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

id Genetic test Affiliating Genes
1 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 29 24 RBM28

Anatomical Context for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

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

39
Skin, Brain, Skeletal Muscle, Thyroid, Pituitary

Publications for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

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

id 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
id 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
id 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

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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