Hypotrichosis 11 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hypotrichosis 11

MalaCards integrated aliases for Hypotrichosis 11:

Name: Hypotrichosis 11 ⁵⁷ ¹¹ ⁷³ ²⁸ ⁵ ¹⁴ ⁷¹

Hypt11 ⁵⁷ ¹¹ ⁷³

Hypotrichosis, Type 11 ³⁸

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
intrafamilial variability in degree of hypotrichosis

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Oral diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0110708

OMIM® ⁵⁷ 615059

OMIM Phenotypic Series ⁵⁷ PS605389

MeSH ⁴³ D007039

MedGen ⁴⁰ C3554409 CN165240

SNOMED-CT via HPO ⁶⁹ 53602002 56558005 86166000

UMLS ⁷¹ C3554409

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Summaries for Hypotrichosis 11

UniProtKB/Swiss-Prot: ⁷³ A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT11 is an autosomal dominant form characterized by scanty or absent eyebrows and a highly variable degree of alopecia since birth, ranging from slight thinning of scalp and axillary hair to complete loss of scalp and body hair. Pubic hair remains mainly unaffected.

MalaCards based summary: Hypotrichosis 11, also known as hypt11, is related to hypotrichosis 1 and woolly hair, autosomal recessive 3. An important gene associated with Hypotrichosis 11 is SNRPE (Small Nuclear Ribonucleoprotein Polypeptide E), and among its related pathways/superpathways is Keratinization. Related phenotypes are sparse hair and alopecia universalis

Disease Ontology: ¹¹ A hypotrichosis that has material basis in a autosomal dominant mutation of SNRPE on chromosome 1q32.1.

More information from OMIM: 615059 PS605389

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Related Diseases for Hypotrichosis 11

Diseases in the Hypotrichosis family:

Hypotrichosis 2	Hypotrichosis 4
Hypotrichosis 8	Hypotrichosis 7
Hypotrichosis 1	Hypotrichosis 6
Hypotrichosis 5	Hypotrichosis 3
Hypotrichosis 9	Hypotrichosis 10
Hypotrichosis 11	Hypotrichosis 12
Hypotrichosis 13	Hypotrichosis 14

Diseases related to Hypotrichosis 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)

#	Related Disease	Score	Top Affiliating Genes
1	hypotrichosis 1	10.1	LIPH KRT74
2	woolly hair, autosomal recessive 3	9.9	LPAR6 LIPH
3	alopecia	9.9	RIN2 RBM28 DCAF17
4	ectodermal dysplasia 6, hair/nail type	9.9	KRT74 DSG4
5	ectodermal dysplasia 5, hair/nail type	9.8	KRT74 DSG4
6	hypotrichosis simplex of the scalp	9.8	KRT74 CDSN
7	woolly hair, autosomal dominant	9.8	LPAR6 LIPH KRT74
8	ectodermal dysplasia 7, hair/nail type	9.8	KRT74 DSG4
9	hypotrichosis 3	9.8	LPAR6 LIPH KRT74
10	woodhouse-sakati syndrome	9.8	RBM28 DCAF17
11	alopecia, neurologic defects, and endocrinopathy syndrome	9.7	SNRPE RIN2 RBM28 DCAF17
12	hypotrichosis 4	9.7	SNRPE LPAR6 LIPH KRT74
13	hypotrichosis simplex	9.5	SNRPE LPAR6 LIPH DSG4
14	ectodermal dysplasia 4, hair/nail type	9.5	LPAR6 LIPH KRT74 DSG4
15	ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	9.4	DSG4 CDSN CDH15
16	hypotrichosis 6	9.4	SNRPE LPAR6 LIPH KRT74 DSG4
17	atrichia with papular lesions	9.1	LPAR6 LIPH KRT74 DSG4 CDSN
18	familial woolly hair syndrome	9.1	LPAR6 LIPH KRT74 DSG4 CDSN
19	monilethrix	9.1	LPAR6 LIPH KRT74 DSG4 CDSN
20	t-cell immunodeficiency, congenital alopecia, and nail dystrophy	9.0	LPAR6 LIPH DSG4 CDSN CDH15
21	hypotrichosis, congenital, with juvenile macular dystrophy	9.0	LPAR6 LIPH DSG4 CDSN CDH15
22	hypotrichosis 7	9.0	SNRPE LPAR6 LIPH KRT74 DSG4 CDSN
23	hypotrichosis 13	9.0	SNRPE LPAR6 LIPH KRT74 DSG4 CDSN
24	hair disease	8.9	LPAR6 LIPH KRT74 DSG4 DCAF17 CDSN
25	hypotrichosis 2	8.9	LPAR6 LIPH KRT74 DSG4 CDSN CDH15
26	hypotrichosis	8.8	SNRPE LPAR6 LIPH KRT74 DSG4 DCAF17
27	hypotrichosis 8	8.5	SNRPE RBM28 LPAR6 LIPH KRT74 DSG4

Graphical network of the top 20 diseases related to Hypotrichosis 11:

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Symptoms & Phenotypes for Hypotrichosis 11

Human phenotypes related to Hypotrichosis 11:

³⁰

#	Description	HPO Frequency	HPO Source Accession
1	sparse hair ³⁰	Very rare (1%)	HP:0008070
2	alopecia universalis ³⁰	Very rare (1%)	HP:0002289
3	aplasia/hypoplasia of the eyebrow ³⁰		HP:0100840
4	absent axillary hair ³⁰		HP:0002221
5	sparse or absent eyelashes ³⁰		HP:0200102

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skin Nails Hair Hair:
absent axillary hair
sparse or absent eyelashes
sparse or absent eyebrows
absent body hair
hypotrichosis or alopecia
more

Head And Neck Head:
hypotrichosis or alopecia

Head And Neck Eyes:
sparse or absent eyelashes
sparse or absent eyebrows

Clinical features from OMIM®:

615059 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Hypotrichosis 11 according to GeneCards Suite gene sharing:

²⁵ (show all 21)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.68	SNRPE
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	9.68	LIPH
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-122	9.68	LIPH
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	9.68	RIN2 SNRPE
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-15	9.68	LIPH
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-153	9.68	SNRPE
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	9.68	SNRPE
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-191	9.68	LIPH
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-193	9.68	RIN2
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-195	9.68	RIN2
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-21	9.68	LIPH
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.68	RIN2
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-216	9.68	LIPH SNRPE
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-35	9.68	LIPH
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-4	9.68	SNRPE
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	9.68	LIPH
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-48	9.68	RIN2
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-53	9.68	SNRPE
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-75	9.68	LIPH
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.68	RIN2
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-90	9.68	SNRPE

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Drugs & Therapeutics for Hypotrichosis 11

Search Clinical Trials, NIH Clinical Center for Hypotrichosis 11

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Genetic Tests for Hypotrichosis 11

Genetic tests related to Hypotrichosis 11:

#	Genetic test	Affiliating Genes
1	Hypotrichosis 11 ²⁸	SNRPE

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Anatomical Context for Hypotrichosis 11

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Publications for Hypotrichosis 11

Articles related to Hypotrichosis 11:

#	Title	Authors	PMID	Year
1	Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. ⁵⁷ ⁵	Pasternack SM...Betz RC	23246290	2013
2	Hereditary hypotrichosis simplex. ⁵⁷ ⁵	Just M...Ferrandiz C	9621144	1998

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Genes for Hypotrichosis 11

Genes related to Hypotrichosis 11 (2 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SNRPE	Small Nuclear Ribonucleoprotein Polypeptide E	Protein Coding	1313.52	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	9621144 23246290
2	LOC112577531	Sharpr-MPRA Regulatory Region 5904	Functional Element	400	Pathogenic ⁵	9621144 23246290
3	KRT74	Keratin 74	Protein Coding	6.83	DISEASES inferred ¹⁴
4	RBM28	RNA Binding Motif Protein 28	Protein Coding	6.58	DISEASES inferred ¹⁴
5	RIN2	Ras And Rab Interactor 2	Protein Coding	6.22	DISEASES inferred ¹⁴
6	LIPH	Lipase H	Protein Coding	6.17	DISEASES inferred ¹⁴
7	DCAF17	DDB1 And CUL4 Associated Factor 17	Protein Coding	6.14	DISEASES inferred ¹⁴
8	LPAR6	Lysophosphatidic Acid Receptor 6	Protein Coding	5.77	DISEASES inferred ¹⁴
9	DSG4	Desmoglein 4	Protein Coding	5.61	DISEASES inferred ¹⁴
10	CDSN	Corneodesmosin	Protein Coding	5.57	DISEASES inferred ¹⁴
11	CDH15	Cadherin 15	Protein Coding	5.36	DISEASES inferred ¹⁴

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Variations for Hypotrichosis 11

ClinVar genetic disease variations for Hypotrichosis 11:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	LOC112577531, SNRPE	NM_003094.4(SNRPE):c.1A>G (p.Met1Val)	SNV	Pathogenic	39505	rs587776924	GRCh37: 1:203830788-203830788 GRCh38: 1:203861660-203861660
2	SNRPE	NM_003094.4(SNRPE):c.133G>A (p.Gly45Ser)	SNV	Pathogenic	39506	rs587776925	GRCh37: 1:203832842-203832842 GRCh38: 1:203863714-203863714

UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 11:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	SNRPE	p.Gly45Ser	VAR_069619	rs587776925

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Expression for Hypotrichosis 11

Search GEO for disease gene expression data for Hypotrichosis 11.

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Pathways for Hypotrichosis 11

Pathways related to Hypotrichosis 11 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Keratinization ⁶⁶ Show member pathways Formation of the cornified envelope ⁶⁶	11.34	KRT74 DSG4 CDSN

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GO Terms for Hypotrichosis 11

Cellular components related to Hypotrichosis 11 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	desmosome	GO:0030057	8.8	DSG4 CDSN

Biological processes related to Hypotrichosis 11 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell-cell adhesion	GO:0098609	8.92	DSG4 CDSN CDH15

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Sources for Hypotrichosis 11

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

HYPT11 MCID: HYP528 MIFTS: 28	Hypotrichosis 11 (HYPT11) Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Related diseases Publications Symptoms & Phenotypes Expand all tables

Hypotrichosis 11 (HYPT11)

Aliases & Classifications for Hypotrichosis 11

MalaCards integrated aliases for Hypotrichosis 11:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Hypotrichosis 11

Related Diseases for Hypotrichosis 11

Diseases in the Hypotrichosis family:

Diseases related to Hypotrichosis 11 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Hypotrichosis 11:

Symptoms & Phenotypes for Hypotrichosis 11

Human phenotypes related to Hypotrichosis 11:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Hypotrichosis 11 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Hypotrichosis 11

Genetic Tests for Hypotrichosis 11

Genetic tests related to Hypotrichosis 11:

Anatomical Context for Hypotrichosis 11

Publications for Hypotrichosis 11

Articles related to Hypotrichosis 11:

Genes for Hypotrichosis 11

Genes related to Hypotrichosis 11 (2 elite genes):

Variations for Hypotrichosis 11

ClinVar genetic disease variations for Hypotrichosis 11:

UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 11:

Expression for Hypotrichosis 11

Pathways for Hypotrichosis 11

Pathways related to Hypotrichosis 11 according to GeneCards Suite gene sharing:

GO Terms for Hypotrichosis 11

Cellular components related to Hypotrichosis 11 according to GeneCards Suite gene sharing:

Biological processes related to Hypotrichosis 11 according to GeneCards Suite gene sharing:

Sources for Hypotrichosis 11