MCID: HML047
MIFTS: 19

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 53 71
Hearing Loss, Sensorineural, with Enamel Hypoplasia and Nail Defects 53 71
Deafness Enamel Hypoplasia Nail Defects 71 69
Peroxisome Biogenesis Disorder 1c 53 71
Hmlr1 53 71
Pbd1c 53 71
Sensorineural Hearing Loss, Enamel Hypoplasia, and Nail Abnormalities 71
Peroxisome Biogenesis Disorder 1c; Pbd1c 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
heimler syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Heimler Syndrome 1

OMIM : 53 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 hearing loss, sensorineural, with enamel hypoplasia and nail defects, is related to deafness enamel hypoplasia nail defects and heimler syndrome 2, and has symptoms including sensorineural hearing impairment, amelogenesis imperfecta and macular dystrophy. 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 1 family:

Heimler Syndrome 2

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

# Related Disease Score Top Affiliating Genes
1 deafness enamel hypoplasia nail defects 12.4
2 heimler syndrome 2 10.9

Symptoms & Phenotypes for Heimler Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
sensorineural hearing loss

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

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

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


Clinical features from OMIM:

234580

Human phenotypes related to Heimler Syndrome 1:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 amelogenesis imperfecta 31 HP:0000705
3 macular dystrophy 31 occasional (7.5%) HP:0007754
4 hypoplasia of dental enamel 31 HP:0006297
5 leukonychia 31 HP:0001820

Drugs & Therapeutics for Heimler Syndrome 1

Search Clinical Trials , NIH Clinical Center for Heimler Syndrome 1

Genetic Tests for Heimler Syndrome 1

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
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX1 NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs) duplication Pathogenic rs794729652 GRCh37 Chromosome 7, 92120645: 92120645
2 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh37 Chromosome 7, 92132484: 92132484
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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