HMLR1
MCID: HML047
MIFTS: 21

Heimler Syndrome 1 (HMLR1)

Categories: Ear diseases, Genetic diseases

Aliases & Classifications for Heimler Syndrome 1

MalaCards integrated aliases for Heimler Syndrome 1:

Name: Heimler Syndrome 1 58 76
Hearing Loss, Sensorineural, with Enamel Hypoplasia and Nail Defects 58 76
Deafness Enamel Hypoplasia Nail Defects 76 74
Peroxisome Biogenesis Disorder 1c 58 76
Hmlr1 58 76
Pbd1c 58 76
Sensorineural Hearing Loss, Enamel Hypoplasia, and Nail Abnormalities 76
Peroxisome Biogenesis Disorder 1c; Pbd1c 58
Heimler Syndrome, Type 1 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
heimler syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Heimler Syndrome 1

OMIM : 58 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. An important gene associated with Heimler Syndrome 1 is PEX1 (Peroxisomal Biogenesis Factor 1). Related phenotypes are macular dystrophy and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 76 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:

# Related Disease Score Top Affiliating Genes
1 deafness enamel hypoplasia nail defects 12.6
2 heimler syndrome 2 11.1
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
4 sensorineural hearing loss 10.3

Symptoms & Phenotypes for Heimler Syndrome 1

Human phenotypes related to Heimler Syndrome 1:

33
# Description HPO Frequency HPO Source Accession
1 macular dystrophy 33 occasional (7.5%) HP:0007754
2 sensorineural hearing impairment 33 HP:0000407
3 amelogenesis imperfecta 33 HP:0000705
4 hypoplasia of dental enamel 33 HP:0006297
5 leukonychia 33 HP:0001820

Symptoms via clinical synopsis from OMIM:

58
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

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

Articles related to Heimler Syndrome 1:

# Title Authors Year
1
Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. ( 2063923 )
1991

Variations for Heimler Syndrome 1

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

76
# 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 (show all 22)
# 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.3379dupC (p.Arg1127Profs) duplication Pathogenic rs794729652 GRCh38 Chromosome 7, 92491331: 92491331
3 PEX1 NM_000466.2(PEX1): c.2114T> G (p.Leu705Trp) single nucleotide variant Uncertain significance rs863225084 GRCh37 Chromosome 7, 92132467: 92132467
4 PEX1 NM_000466.2(PEX1): c.2114T> G (p.Leu705Trp) single nucleotide variant Uncertain significance rs863225084 GRCh38 Chromosome 7, 92503153: 92503153
5 PEX1 NM_000466.2(PEX1): c.1742G> C (p.Arg581Pro) single nucleotide variant Pathogenic rs370483961 GRCh37 Chromosome 7, 92136369: 92136369
6 PEX1 NM_000466.2(PEX1): c.1742G> C (p.Arg581Pro) single nucleotide variant Pathogenic rs370483961 GRCh38 Chromosome 7, 92507055: 92507055
7 PEX1 NM_000466.2(PEX1): c.1239+1G> T single nucleotide variant Pathogenic rs756876301 GRCh37 Chromosome 7, 92146589: 92146589
8 PEX1 NM_000466.2(PEX1): c.1239+1G> T single nucleotide variant Pathogenic rs756876301 GRCh38 Chromosome 7, 92517275: 92517275
9 PEX1 NM_000466.2(PEX1): c.3750G> A (p.Trp1250Ter) single nucleotide variant Pathogenic rs863225085 GRCh37 Chromosome 7, 92118624: 92118624
10 PEX1 NM_000466.2(PEX1): c.3750G> A (p.Trp1250Ter) single nucleotide variant Pathogenic rs863225085 GRCh38 Chromosome 7, 92489310: 92489310
11 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh37 Chromosome 7, 92130876: 92130876
12 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh38 Chromosome 7, 92501562: 92501562
13 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh37 Chromosome 7, 92132484: 92132484
14 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh38 Chromosome 7, 92503170: 92503170
15 PEX1 NM_000466.2(PEX1): c.2966T> C (p.Ile989Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs61750427 GRCh38 Chromosome 7, 92494357: 92494357
16 PEX1 NM_000466.2(PEX1): c.2966T> C (p.Ile989Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs61750427 GRCh37 Chromosome 7, 92123671: 92123671
17 PEX1 NM_000466.2(PEX1): c.1792delA (p.Thr598Glnfs) deletion Pathogenic rs886037783 GRCh38 Chromosome 7, 92507005: 92507005
18 PEX1 NM_000466.2(PEX1): c.1792delA (p.Thr598Glnfs) deletion Pathogenic rs886037783 GRCh37 Chromosome 7, 92136319: 92136319
19 PEX1 NM_001282678.1(PEX1): c.3132T> A (p.Asn1044Lys) single nucleotide variant Uncertain significance rs553001596 GRCh38 Chromosome 7, 92489304: 92489304
20 PEX1 NM_001282678.1(PEX1): c.3132T> A (p.Asn1044Lys) single nucleotide variant Uncertain significance rs553001596 GRCh37 Chromosome 7, 92118618: 92118618
21 PEX1 NM_000466.2(PEX1): c.2876G> C (p.Arg959Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 92494537: 92494537
22 PEX1 NM_000466.2(PEX1): c.2876G> C (p.Arg959Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 92123851: 92123851

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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37 IUPHAR
38 KEGG
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45 MeSH
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50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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