MCID: AML012
MIFTS: 19

Ameloonychohypohidrotic Syndrome

Categories: Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ameloonychohypohidrotic Syndrome

MalaCards integrated aliases for Ameloonychohypohidrotic Syndrome:

Name: Ameloonychohypohidrotic Syndrome 56 52 58 71
Hypocalcified-Hypoplastic Enamel, Onycholysis with Subungual Hyperkeratosis, and Hypohidrosis 52
Ameloonychohypohidrotic Ectodermal Dysplasia 58
Amelo-Onycho-Hypohidrotic Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
amelo-onycho-hypohidrotic syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ameloonychohypohidrotic syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 104570
MESH via Orphanet 44 C538245
ICD10 via Orphanet 33 Q82.4
UMLS via Orphanet 72 C1863006
Orphanet 58 ORPHA1028
MedGen 41 C1863006
UMLS 71 C1863006

Summaries for Ameloonychohypohidrotic 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: 1028 Definition A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungueal hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrymal punctae may be occasionally absent. There have been no further descriptions in the literature since 1975. Visit the Orphanet disease page for more resources.

MalaCards based summary : Ameloonychohypohidrotic Syndrome, also known as hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis, is related to taurodontism. Affiliated tissues include skin, and related phenotypes are hyperkeratosis and hypohidrosis

More information from OMIM: 104570

Related Diseases for Ameloonychohypohidrotic Syndrome

Diseases related to Ameloonychohypohidrotic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 taurodontism 10.6

Symptoms & Phenotypes for Ameloonychohypohidrotic Syndrome

Human phenotypes related to Ameloonychohypohidrotic Syndrome:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
2 hypohidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000966
3 hypoplastic toenails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001800
4 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
5 onycholysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001806
6 yellow-brown discoloration of the teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006286
7 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
8 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
9 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
10 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
11 reduced number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0009804
12 abnormality of dental morphology 58 31 frequent (33%) Frequent (79-30%) HP:0006482
13 advanced eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006288
14 everted lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000232
15 abnormality of the fingernails 58 Very frequent (99-80%)
16 seborrheic dermatitis 31 HP:0001051
17 abnormality of dental color 58 Very frequent (99-80%)
18 abnormal hair morphology 31 HP:0001595
19 marked delay in eruption of permanent teeth 31 HP:0006291

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
hypohidrosis
seborrheic dermatitis (scalp)
xerosis (buttocks, extensor surfaces of extremities)

Head And Neck Teeth:
marked delay in eruption of permanent teeth
hypocalicifed-hypoplastic enamel
yellow-brown tooth discoloration

Skin Nails Hair Nails:
onycholysis

Skin Nails Hair Hair:
normal hair

Clinical features from OMIM:

104570

Drugs & Therapeutics for Ameloonychohypohidrotic Syndrome

Search Clinical Trials , NIH Clinical Center for Ameloonychohypohidrotic Syndrome

Genetic Tests for Ameloonychohypohidrotic Syndrome

Anatomical Context for Ameloonychohypohidrotic Syndrome

MalaCards organs/tissues related to Ameloonychohypohidrotic Syndrome:

40
Skin

Publications for Ameloonychohypohidrotic Syndrome

Articles related to Ameloonychohypohidrotic Syndrome:

# Title Authors PMID Year
1
Hypoplastic enamel, onycholysis, and hypohidrosis inherited as an autosomal dominant trait. A review of ectodermal dysplasia syndromes. 56
122795 1975
2
[Amelo-onycho-hypohidrotic syndrome]. 61
11462387 2001
3
[Amelo-onycho-hypohidrotic syndrome with taurodontism. Report of a case]. 61
3483588 1987

Variations for Ameloonychohypohidrotic Syndrome

Expression for Ameloonychohypohidrotic Syndrome

Search GEO for disease gene expression data for Ameloonychohypohidrotic Syndrome.

Pathways for Ameloonychohypohidrotic Syndrome

GO Terms for Ameloonychohypohidrotic Syndrome

Sources for Ameloonychohypohidrotic 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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