MCID: ALP092
MIFTS: 20

Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan

Categories: Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan

MalaCards integrated aliases for Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan:

Name: Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 56
Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type 52 58
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 52 71
Moynahan Alopecia Syndrome 56 52
Moynahan Syndrome 52 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
alopecia-epilepsy-oligophrenia syndrome of moynahan:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases


Summaries for Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan

MalaCards based summary : Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan, also known as alopecia-epilepsy-intellectual disability syndrome, moynahan type, is related to noonan syndrome with multiple lentigines and lentigines, and has symptoms including seizures Affiliated tissues include skin, and related phenotypes are intellectual disability and alopecia

More information from OMIM: 203600

Related Diseases for Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan

Diseases related to Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 noonan syndrome with multiple lentigines 11.8
2 lentigines 10.1
3 marfan syndrome 10.1

Symptoms & Phenotypes for Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan

Human phenotypes related to Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
3 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 cachexia 58 31 frequent (33%) Frequent (79-30%) HP:0004326
6 sparse hair 58 31 frequent (33%) Frequent (79-30%) HP:0008070
7 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
8 seizure 31 frequent (33%) HP:0001250
9 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
10 hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000962
11 seizures 58 Frequent (79-30%)
12 eeg abnormality 31 HP:0002353

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
abnormal electroencephalogram
mental retardation (mild to moderate)

Skin Nails Hair Hair:
alopecia
sparse hair
delayed hair growth

Head And Neck Head:
microcephaly

Clinical features from OMIM:

203600

UMLS symptoms related to Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan:


seizures

Drugs & Therapeutics for Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan

Search Clinical Trials , NIH Clinical Center for Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan

Genetic Tests for Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan

Anatomical Context for Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan

MalaCards organs/tissues related to Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan:

40
Skin

Publications for Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan

Articles related to Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan:

# Title Authors PMID Year
1
A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures. 56
2319580 1990
2
Congenital alopecia, seizures, and psychomotor retardation in three siblings. 56
3334010 1987
3
Congenital universal alopecia, mental deficiency, and microcephaly in two sibs. 56
7143396 1982
4
Letter: Universal alopecia and microcephaly in 4 siblings. 56
1124456 1975
5
Familial congenital alopecia, epilepsy, mental retardation with unusual electroencephalograms. 56
14476762 1962
6
Exosomes as a novel pathway for regulating development and diseases of the skin. 61
29599975 2018
7
Patient with confirmed LEOPARD syndrome developing multiple melanoma. 61
29445579 2018
8
[Multiple lentigines syndrome, LEOPARD syndrome, Moynahan syndrome]. 61
11057150 2000
9
[Progressive cardiomyopathic lentiginosis (Leopard syndrome, Moynahan syndrome)]. 61
2771388 1989

Variations for Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan

Expression for Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan

Search GEO for disease gene expression data for Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan.

Pathways for Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan

GO Terms for Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan

Sources for Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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