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

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Aliases & Classifications for Heimler Syndrome 1

MalaCards integrated aliases for Heimler Syndrome 1:

Name: Heimler Syndrome 1 ⁵⁶ ⁷³

Hearing Loss, Sensorineural, with Enamel Hypoplasia and Nail Defects ⁵⁶ ⁷³

Deafness Enamel Hypoplasia Nail Defects ⁷³ ⁷¹

Peroxisome Biogenesis Disorder 1c ⁵⁶ ⁷³

Hmlr1 ⁵⁶ ⁷³

Pbd1c ⁵⁶ ⁷³

Sensorineural Hearing Loss, Enamel Hypoplasia, and Nail Abnormalities ⁷³

Peroxisome Biogenesis Disorder 1c; Pbd1c ⁵⁶

Heimler Syndrome, Type 1 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

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 ⁵⁶ 234580

OMIM Phenotypic Series ⁵⁶ PS214100

MeSH ⁴³ D000567 D006319 D009260

MedGen ⁴¹ C1856186 C4551980

SNOMED-CT via HPO ⁶⁸ 111202002 258211005 26597004 more

UMLS ⁷¹ C1856186

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Summaries for Heimler Syndrome 1

OMIM : ⁵⁶ 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 : ⁷³ 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.

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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
1	deafness enamel hypoplasia nail defects	13.0
2	heimler syndrome 2	11.3
3	peroxisome biogenesis disorder 1a	10.3
4	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.3
5	sensorineural hearing loss	10.3
6	zellweger syndrome	10.3

Graphical network of the top 20 diseases related to Heimler Syndrome 1:

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Symptoms & Phenotypes for Heimler Syndrome 1

Human phenotypes related to Heimler Syndrome 1:

³¹

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

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

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Drugs & Therapeutics for Heimler Syndrome 1

Search Clinical Trials , NIH Clinical Center for Heimler Syndrome 1

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Genetic Tests for Heimler Syndrome 1

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Anatomical Context for Heimler Syndrome 1

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Publications for Heimler Syndrome 1

Articles related to Heimler Syndrome 1:

#	Title	Authors	PMID	Year
1	Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. ⁶¹ ⁵⁶ ⁶	Heimler A...Crespi P	2063923	1991
2	Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. ⁵⁶ ⁶	Ratbi I...Van Camp G	26387595	2015
3	Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. ⁶	Yik WY...Hacia JG	19105186	2009
4	Peroxisome biogenesis disorders. ⁶	Steinberg SJ...Moser HW	17055079	2006
5	Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler's syndrome. ⁵⁶	Pollak C...Say B	12514367	2003
6	Amelogenesis imperfecta, sensorineural hearing loss, and Beau's lines, a second case report of Heimler's syndrome. ⁵⁶	Tischkowitz M...Verhoef S	10636745	1999
7	Identification of a common PEX1 mutation in Zellweger syndrome. ⁶	Collins CS...Gould SJ	10447258	1999
8	Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. ⁶	Reuber BE...Gould SJ	9398847	1997
9	Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. ⁶	Gartner J...Valle D	1301993	1992

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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	1217.19	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	9398847 1301993 26387595 (more) 19105186 2063923 10447258 17055079

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Variations for Heimler Syndrome 1

ClinVar genetic disease variations for Heimler Syndrome 1:

⁶ (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PEX1	NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)	SNV	Pathogenic	217429	rs370483961	7:92136369-92136369	7:92507055-92507055
2	PEX1	NM_000466.3(PEX1):c.1239+1G>T	SNV	Pathogenic	217430	rs756876301	7:92146589-92146589	7:92517275-92517275
3	PEX1	NM_000466.3(PEX1):c.3750G>A (p.Trp1250Ter)	SNV	Pathogenic	217431	rs863225085	7:92118624-92118624	7:92489310-92489310
4	PEX1	NM_000466.3(PEX1):c.1792del (p.Thr598fs)	deletion	Pathogenic	224324	rs886037783	7:92136319-92136319	7:92507005-92507005
5	PEX1	NM_000466.3(PEX1):c.3379dup (p.Arg1127fs)	duplication	Pathogenic	203390	rs794729652	7:92120644-92120645	7:92491330-92491331
6	PEX1	NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	SNV	Pathogenic	7516	rs61750420	7:92130876-92130876	7:92501562-92501562
7	PEX1	NM_000466.3(PEX1):c.2922del (p.Leu974fs)	deletion	Pathogenic	371696	rs762324548	7:92123805-92123805	7:92494491-92494491
8	PEX1	NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	duplication	Pathogenic	7519	rs61750415	7:92132483-92132484	7:92503169-92503170
9	PEX1	NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)	SNV	Pathogenic/Likely pathogenic	495880	rs61750428	7:92123645-92123645	7:92494331-92494331
10	PEX1	NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)	SNV	Likely pathogenic	7517	rs121434455	7:92134126-92134126	7:92504812-92504812
11	PEX1	NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)	SNV	Conflicting interpretations of pathogenicity	224325	rs61750427	7:92123671-92123671	7:92494357-92494357
12	PEX1	NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp)	SNV	Uncertain significance	217428	rs863225084	7:92132467-92132467	7:92503153-92503153
13	PEX1	NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn)	SNV	Uncertain significance	498412	rs143273433	7:92143272-92143272	7:92513958-92513958
14	PEX1	NM_000466.3(PEX1):c.254G>A (p.Gly85Glu)	SNV	Uncertain significance	502318	rs771224088	7:92151435-92151435	7:92522121-92522121
15	PEX1	NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)	SNV	Uncertain significance	548004	rs553001596	7:92118618-92118618	7:92489304-92489304
16	PEX1	NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro)	SNV	Uncertain significance	587523	rs773206107	7:92123851-92123851	7:92494537-92494537
17	PEX1	NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly)	SNV	Uncertain significance	282718	rs182452430	7:92119161-92119161	7:92489847-92489847
18	PEX1	NM_000466.3(PEX1):c.2750C>T (p.Ala917Val)	SNV	Uncertain significance	288721	rs371327573	7:92126060-92126060	7:92496746-92496746
19	PEX1	NM_000466.3(PEX1):c.665C>T (p.Thr222Ile)	SNV	Uncertain significance	197673	rs773922257	7:92147164-92147164	7:92517850-92517850

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

⁷³

#	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

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Expression for Heimler Syndrome 1

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

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Pathways for Heimler Syndrome 1

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GO Terms for Heimler Syndrome 1

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Sources for Heimler Syndrome 1

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Heimler Syndrome 1 (HMLR1)

Aliases & Classifications for Heimler Syndrome 1

MalaCards integrated aliases for Heimler Syndrome 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Heimler Syndrome 1

Related Diseases for Heimler Syndrome 1

Diseases in the Heimler Syndrome 1 family:

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

Graphical network of the top 20 diseases related to Heimler Syndrome 1:

Symptoms & Phenotypes for Heimler Syndrome 1

Human phenotypes related to Heimler Syndrome 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Genes for Heimler Syndrome 1

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

Variations for Heimler Syndrome 1

ClinVar genetic disease variations for Heimler Syndrome 1:

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

Expression for Heimler Syndrome 1

Pathways for Heimler Syndrome 1

GO Terms for Heimler Syndrome 1

Sources for Heimler Syndrome 1