MCID: FLY003
MIFTS: 22

Flynn-Aird Syndrome

Categories: Eye diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Flynn-Aird Syndrome

MalaCards integrated aliases for Flynn-Aird Syndrome:

Name: Flynn-Aird Syndrome 56 74 52 58
Flynn Aird Syndrome 52 71
Cataracts, Retinitis Pigmentosa, Sensorineural Hearing Loss, Ataxia, Peripheral Neuritis, Epilepsy, Dementia, Skin Atrophy, Chronic Ulceration, Dental 52

Characteristics:

Orphanet epidemiological data:

58
flynn-aird syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
flynn-aird syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases


Summaries for Flynn-Aird Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2047 Definition A rare neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. Clinical manifestations include eye abnormalities (cataracts , retinitis pigmentosa, and myopia), sensorineural deafness, ataxia , peripheral neuritis, epilepsy , dementia , skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Visit the Orphanet disease page for more resources.

MalaCards based summary : Flynn-Aird Syndrome, is also known as flynn aird syndrome. Affiliated tissues include skin, bone and eye, and related phenotypes are myopia and dermal atrophy

Wikipedia : 74 Flynn-Aird syndrome is a rare, hereditary, neurological disease that is inherited in an autosomal... more...

More information from OMIM: 136300

Related Diseases for Flynn-Aird Syndrome

Symptoms & Phenotypes for Flynn-Aird Syndrome

Human phenotypes related to Flynn-Aird Syndrome:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
2 dermal atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0004334
3 progressive sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000408
4 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
5 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
6 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
7 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
8 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
9 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
10 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
11 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
12 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
13 cachexia 58 31 frequent (33%) Frequent (79-30%) HP:0004326
14 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
15 impaired pain sensation 58 31 frequent (33%) Frequent (79-30%) HP:0007328
16 bone cyst 58 31 frequent (33%) Frequent (79-30%) HP:0012062
17 rod-cone dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000510
18 atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0002621
19 aphasia 58 31 frequent (33%) Frequent (79-30%) HP:0002381
20 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
21 seizure 31 frequent (33%) HP:0001250
22 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
23 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
24 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
25 abnormality of movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0100022
26 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
27 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
28 primary adrenal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0008207
29 abnormality of the thyroid gland 58 31 occasional (7.5%) Occasional (29-5%) HP:0000820
30 peripheral neuropathy 58 31 Frequent (79-30%) HP:0009830
31 seizures 58 Frequent (79-30%)
32 hyperkeratosis 31 HP:0000962
33 osteoporosis 31 HP:0000939
34 kyphoscoliosis 31 HP:0002751
35 alopecia of scalp 31 HP:0002293
36 increased csf protein 31 HP:0002922
37 increased bone density with cystic changes 31 HP:0005700

Symptoms via clinical synopsis from OMIM:

56
Neuro:
seizures
ataxia
aphasia
dementia
peripheral neuritis

Skin:
hyperkeratosis
skin atrophy
chronic ulceration

Eyes:
myopia
cataracts
atypical retinitis pigmentosa

Hair:
baldness

Misc:
onset as early as age 7

Joints:
joint stiffness

Radiology:
osteoporosis
kyphoscoliosis
increased bone density with cystic changes

Ears:
bilateral progressive sensorineural hearing loss

Teeth:
severe dental caries

Lab:
elevated cerebrospinal fluid protein

Clinical features from OMIM:

136300

Drugs & Therapeutics for Flynn-Aird Syndrome

Search Clinical Trials , NIH Clinical Center for Flynn-Aird Syndrome

Genetic Tests for Flynn-Aird Syndrome

Anatomical Context for Flynn-Aird Syndrome

MalaCards organs/tissues related to Flynn-Aird Syndrome:

40
Skin, Bone, Eye, Skeletal Muscle, Thyroid

Publications for Flynn-Aird Syndrome

Articles related to Flynn-Aird Syndrome:

# Title Authors PMID Year
1
A neuroectodermal syndrome of dominant inheritance. 56
5878601 1965
2
[Neuroectodermal syndrome, Flynn-Aird type (Flynn-Aird syndrome)]. 61
11528746 2001
3
[A patient with Flynn-Aird syndrome]. 61
6144027 1984

Variations for Flynn-Aird Syndrome

Expression for Flynn-Aird Syndrome

Search GEO for disease gene expression data for Flynn-Aird Syndrome.

Pathways for Flynn-Aird Syndrome

GO Terms for Flynn-Aird Syndrome

Sources for Flynn-Aird Syndrome

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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