Heimler Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Heimler Syndrome 1

MalaCards integrated aliases for Heimler Syndrome 1:

Name: Heimler Syndrome 1 ⁵⁷ ⁷⁵

Hearing Loss, Sensorineural, with Enamel Hypoplasia and Nail Defects ⁵⁷ ⁷⁵

Deafness Enamel Hypoplasia Nail Defects ⁷⁵ ⁷³

Peroxisome Biogenesis Disorder 1c ⁵⁷ ⁷⁵

Hmlr1 ⁵⁷ ⁷⁵

Pbd1c ⁵⁷ ⁷⁵

Sensorineural Hearing Loss, Enamel Hypoplasia, and Nail Abnormalities ⁷⁵

Peroxisome Biogenesis Disorder 1c; Pbd1c ⁵⁷

Heimler Syndrome, Type 1 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

heimler syndrome 1:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 234580

MedGen ⁴² C1856186

MeSH ⁴⁴ D000567 D006319 D009260

SNOMED-CT via HPO ⁶⁹ 258211005 60700002 78494001 more

UMLS ⁷³ C1856186

Sources

Summaries for Heimler Syndrome 1

OMIM : ⁵⁷ 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 sensorineural hearing impairment and amelogenesis imperfecta

UniProtKB/Swiss-Prot : ⁷⁵ 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.

Sources

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	12.5
2	heimler syndrome 2	10.9

Sources

Symptoms & Phenotypes for Heimler Syndrome 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

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:

³²

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

Sources

Drugs & Therapeutics for Heimler Syndrome 1

Search Clinical Trials , NIH Clinical Center for Heimler Syndrome 1

Sources

Genetic Tests for Heimler Syndrome 1

Sources

Anatomical Context for Heimler Syndrome 1

Sources

Publications for Heimler Syndrome 1

Sources

Genes for Heimler Syndrome 1

Genes related to Heimler Syndrome 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PEX1	Peroxisomal Biogenesis Factor 1	Protein Coding	1227.43	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ GeneCards inferred via : Disorders Variants (show sections)	26387595 10447258 9398847 (more) 1301993 17055079 2063923 19105186

Sources

Variations for Heimler Syndrome 1

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

⁷⁵

#	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 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

Sources

Expression for Heimler Syndrome 1

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

Sources

Pathways for Heimler Syndrome 1

Sources

GO Terms for Heimler Syndrome 1

Sources

Sources for Heimler Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia