MCID: HML047
MIFTS: 18

Heimler Syndrome 1

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Heimler Syndrome 1

MalaCards integrated aliases for Heimler Syndrome 1:

Name: Heimler Syndrome 1 54 24 71
Deafness Enamel Hypoplasia Nail Defects 71 69
Peroxisome Biogenesis Disorder 1c 24 71
Pbd1c 24 71
Sensorineural Hearing Loss, Enamel Hypoplasia, and Nail Abnormalities 71
Hearing Loss, Sensorineural, with Enamel Hypoplasia and Nail Defects 71
Sensorineural Hearing Loss with Enamel Hypoplasia and Nail Defects 24
Hmlr1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
heimler syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Heimler Syndrome 1

OMIM : 54
Heimler syndrome-1 (HMLR1), which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, 214100), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hyoplasia of the secondary dentition, and nail abnormalities (Ratbi et al., 2015). (234580)

MalaCards based summary : Heimler Syndrome 1, also known as deafness enamel hypoplasia nail defects, is related to deafness enamel hypoplasia nail defects and heimler syndrome 2, and has symptoms including amelogenesis imperfecta, macular dystrophy and sensorineural hearing impairment. An important gene associated with Heimler Syndrome 1 is PEX1 (Peroxisomal Biogenesis Factor 1).

UniProtKB/Swiss-Prot : 71 Heimler syndrome 1: A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities.

Related Diseases for Heimler Syndrome 1

Diseases in the Heimler Syndrome 2 family:

Heimler Syndrome 1

Diseases related to Heimler Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 deafness enamel hypoplasia nail defects 12.3
2 heimler syndrome 2 10.8

Symptoms & Phenotypes for Heimler Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Nails:
punctate leukonychia
beau's lines (fingernails and toenails)

Head And Neck- Eyes:
retinal pigmentation abnormalities (in some patients)
macular dystrophy (rare)

Head And Neck- Teeth:
amelogenesis imperfecta (secondary teeth)
normal primary teeth

Head And Neck- Ears:
sensorineural hearing loss


Clinical features from OMIM:

234580

Human phenotypes related to Heimler Syndrome 1:

32
id Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 32 HP:0000705
2 macular dystrophy 32 occasional (7.5%) HP:0007754
3 sensorineural hearing impairment 32 HP:0000407
4 leukonychia 32 HP:0001820
5 hypoplasia of dental enamel 32 HP:0006297

Drugs & Therapeutics for Heimler Syndrome 1

Search Clinical Trials , NIH Clinical Center for Heimler Syndrome 1

Genetic Tests for Heimler Syndrome 1

Genetic tests related to Heimler Syndrome 1:

id Genetic test Affiliating Genes
1 Heimler Syndrome 1 24 PEX1

Anatomical Context for Heimler Syndrome 1

Publications for Heimler Syndrome 1

Variations for Heimler Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Heimler Syndrome 1:

71
id Symbol AA change Variation ID SNP ID
1 PEX1 p.Arg581Pro VAR_074108 rs370483961
2 PEX1 p.Leu705Trp VAR_074109 rs863225084
3 PEX1 p.Ile989Thr VAR_077503 rs61750427

ClinVar genetic disease variations for Heimler Syndrome 1:

6
id 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.3379dupC (p.Arg1127Profs) duplication Pathogenic rs794729652 GRCh37 Chromosome 7, 92120645: 92120645
3 PEX1 NM_000466.2(PEX1): c.2114T> G (p.Leu705Trp) single nucleotide variant Pathogenic rs863225084 GRCh37 Chromosome 7, 92132467: 92132467
4 PEX1 NM_000466.2(PEX1): c.1742G> C (p.Arg581Pro) single nucleotide variant Pathogenic rs370483961 GRCh37 Chromosome 7, 92136369: 92136369
5 PEX1 NM_000466.2(PEX1): c.1239+1G> T single nucleotide variant Pathogenic rs756876301 GRCh37 Chromosome 7, 92146589: 92146589
6 PEX1 NM_000466.2(PEX1): c.3750G> A (p.Trp1250Ter) single nucleotide variant Pathogenic rs863225085 GRCh37 Chromosome 7, 92118624: 92118624
7 PEX1 NM_000466.2(PEX1): c.2966T> C (p.Ile989Thr) single nucleotide variant Pathogenic rs61750427 GRCh38 Chromosome 7, 92494357: 92494357
8 PEX1 NM_000466.2(PEX1): c.1792delA (p.Thr598Glnfs) deletion Pathogenic rs886037783 GRCh38 Chromosome 7, 92507005: 92507005

Expression for Heimler Syndrome 1

Search GEO for disease gene expression data for Heimler Syndrome 1.

Pathways for Heimler Syndrome 1

GO Terms for Heimler Syndrome 1

Sources for Heimler Syndrome 1

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
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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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