MCID: DFN007
MIFTS: 32

Deafness Enamel Hypoplasia Nail Defects

Categories: Rare diseases, Ear diseases, Skin diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Deafness Enamel Hypoplasia Nail Defects

MalaCards integrated aliases for Deafness Enamel Hypoplasia Nail Defects:

Name: Deafness Enamel Hypoplasia Nail Defects 53 29 6 73
Heimler Syndrome 53 59
Bilateral Sensorineural Hearing Loss, Enamel Hypoplasia and Nail Defects 53
Sensorineural Hearing Loss, Enamel Hypoplasia, and Nail Abnormalities 53
Deafness-Enamel Hypoplasia-Nail Defects Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
deafness-enamel hypoplasia-nail defects syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



Summaries for Deafness Enamel Hypoplasia Nail Defects

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3220Disease definitionDeafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Deafness Enamel Hypoplasia Nail Defects, also known as heimler syndrome, is related to heimler syndrome 2 and heimler syndrome 1. An important gene associated with Deafness Enamel Hypoplasia Nail Defects is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways is Peroxisome. Affiliated tissues include skin, and related phenotypes are abnormality of the fingernails and intellectual disability

Related Diseases for Deafness Enamel Hypoplasia Nail Defects

Diseases related to Deafness Enamel Hypoplasia Nail Defects via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 heimler syndrome 2 12.3
2 heimler syndrome 1 11.5
3 zellweger spectrum disorder 9.7 PEX1 PEX6
4 peroxisomal biogenesis disorders 9.7 PEX1 PEX6
5 neonatal adrenoleukodystrophy 9.6 PEX1 PEX6
6 adrenoleukodystrophy 9.5 PEX1 PEX6
7 peroxisome biogenesis disorder 11a 9.4 GATAD1 PEX1
8 peroxisome biogenesis disorder 11b 9.4 GATAD1 PEX1
9 zellweger syndrome 9.2 PEX1 PEX6
10 peroxisome biogenesis disorder 1b 8.8 GATAD1 PEX1 PEX6

Graphical network of the top 20 diseases related to Deafness Enamel Hypoplasia Nail Defects:



Diseases related to Deafness Enamel Hypoplasia Nail Defects

Symptoms & Phenotypes for Deafness Enamel Hypoplasia Nail Defects

Human phenotypes related to Deafness Enamel Hypoplasia Nail Defects:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001231
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 external genital hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003241
4 pili torti 59 32 hallmark (90%) Very frequent (99-80%) HP:0003777
5 abnormal hair quantity 59 32 hallmark (90%) Very frequent (99-80%) HP:0011362
6 thin eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0045074
7 abnormality of nail color 59 32 hallmark (90%) Very frequent (99-80%) HP:0100643
8 round face 59 32 frequent (33%) Frequent (79-30%) HP:0000311
9 primary amenorrhea 59 32 frequent (33%) Frequent (79-30%) HP:0000786
10 large hands 59 32 frequent (33%) Frequent (79-30%) HP:0001176
11 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
12 arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0011675
13 sensory neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000763
14 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
15 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
16 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
17 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
18 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
19 high anterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0009890
20 muscle flaccidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0010547
21 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
22 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
23 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
24 taurodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000679
25 abnormality of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000682
26 diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000819
27 abnormality of the toenails 59 Very frequent (99-80%)
28 peripheral neuropathy 59 Occasional (29-5%)
29 abnormality of the dentition 59 Very frequent (99-80%)
30 hearing impairment 59 Very frequent (99-80%)
31 abnormality of the eyelid 59 Very frequent (99-80%)
32 abnormality of the eyebrow 59 Very frequent (99-80%)
33 abnormality of the nasolacrimal system 59 Very frequent (99-80%)
34 abnormal eyelid morphology 32 hallmark (90%) HP:0000492
35 abnormal nasolacrimal system morphology 32 hallmark (90%) HP:0000614
36 abnormal toenail morphology 32 hallmark (90%) HP:0008388

Drugs & Therapeutics for Deafness Enamel Hypoplasia Nail Defects

Search Clinical Trials , NIH Clinical Center for Deafness Enamel Hypoplasia Nail Defects

Genetic Tests for Deafness Enamel Hypoplasia Nail Defects

Genetic tests related to Deafness Enamel Hypoplasia Nail Defects:

# Genetic test Affiliating Genes
1 Deafness Enamel Hypoplasia Nail Defects 29 PEX1

Anatomical Context for Deafness Enamel Hypoplasia Nail Defects

MalaCards organs/tissues related to Deafness Enamel Hypoplasia Nail Defects:

41
Skin

Publications for Deafness Enamel Hypoplasia Nail Defects

Articles related to Deafness Enamel Hypoplasia Nail Defects:

# Title Authors Year
1
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. ( 28944237 )
2017
2
Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene. ( 27633571 )
2016
3
Spectrum of PEX1 and PEX6 variants in Heimler syndrome. ( 27302843 )
2016
4
Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6. ( 26387595 )
2015
5
Macular dystrophy in Heimler syndrome. ( 21366429 )
2011
6
Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls. ( 16530715 )
2006

Variations for Deafness Enamel Hypoplasia Nail Defects

ClinVar genetic disease variations for Deafness Enamel Hypoplasia Nail Defects:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh37 Chromosome 7, 92132484: 92132484
2 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh38 Chromosome 7, 92503170: 92503170
3 PEX1 NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs) duplication Pathogenic rs794729652 GRCh37 Chromosome 7, 92120645: 92120645
4 PEX1 NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs) duplication Pathogenic rs794729652 GRCh38 Chromosome 7, 92491331: 92491331
5 PEX1 NM_000466.2(PEX1): c.2114T> G (p.Leu705Trp) single nucleotide variant Pathogenic rs863225084 GRCh37 Chromosome 7, 92132467: 92132467
6 PEX1 NM_000466.2(PEX1): c.2114T> G (p.Leu705Trp) single nucleotide variant Pathogenic rs863225084 GRCh38 Chromosome 7, 92503153: 92503153
7 PEX1 NM_000466.2(PEX1): c.1742G> C (p.Arg581Pro) single nucleotide variant Pathogenic rs370483961 GRCh37 Chromosome 7, 92136369: 92136369
8 PEX1 NM_000466.2(PEX1): c.1742G> C (p.Arg581Pro) single nucleotide variant Pathogenic rs370483961 GRCh38 Chromosome 7, 92507055: 92507055
9 PEX1 NM_000466.2(PEX1): c.1239+1G> T single nucleotide variant Pathogenic rs756876301 GRCh37 Chromosome 7, 92146589: 92146589
10 PEX1 NM_000466.2(PEX1): c.1239+1G> T single nucleotide variant Pathogenic rs756876301 GRCh38 Chromosome 7, 92517275: 92517275
11 PEX1 NM_000466.2(PEX1): c.3750G> A (p.Trp1250Ter) single nucleotide variant Pathogenic rs863225085 GRCh37 Chromosome 7, 92118624: 92118624
12 PEX1 NM_000466.2(PEX1): c.3750G> A (p.Trp1250Ter) single nucleotide variant Pathogenic rs863225085 GRCh38 Chromosome 7, 92489310: 92489310
13 PEX1 NM_000466.2(PEX1): c.2966T> C (p.Ile989Thr) single nucleotide variant Pathogenic rs61750427 GRCh38 Chromosome 7, 92494357: 92494357
14 PEX1 NM_000466.2(PEX1): c.2966T> C (p.Ile989Thr) single nucleotide variant Pathogenic rs61750427 GRCh37 Chromosome 7, 92123671: 92123671
15 PEX1 NM_000466.2(PEX1): c.1792delA (p.Thr598Glnfs) deletion Pathogenic rs886037783 GRCh38 Chromosome 7, 92507005: 92507005
16 PEX1 NM_000466.2(PEX1): c.1792delA (p.Thr598Glnfs) deletion Pathogenic rs886037783 GRCh37 Chromosome 7, 92136319: 92136319

Expression for Deafness Enamel Hypoplasia Nail Defects

Search GEO for disease gene expression data for Deafness Enamel Hypoplasia Nail Defects.

Pathways for Deafness Enamel Hypoplasia Nail Defects

Pathways related to Deafness Enamel Hypoplasia Nail Defects according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.54 PEX1 PEX6

GO Terms for Deafness Enamel Hypoplasia Nail Defects

Cellular components related to Deafness Enamel Hypoplasia Nail Defects according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 8.96 PEX1 PEX6
2 peroxisomal membrane GO:0005778 8.62 PEX1 PEX6

Biological processes related to Deafness Enamel Hypoplasia Nail Defects according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisome organization GO:0007031 8.96 PEX1 PEX6
2 protein targeting to peroxisome GO:0006625 8.62 PEX1 PEX6

Molecular functions related to Deafness Enamel Hypoplasia Nail Defects according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.16 PEX1 PEX6
2 protein-containing complex binding GO:0044877 8.96 PEX1 PEX6
3 ATPase activity, coupled GO:0042623 8.62 PEX1 PEX6

Sources for Deafness Enamel Hypoplasia Nail Defects

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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