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

HYPT1 MCID: HYP507 MIFTS: 43	Hypotrichosis 1 (HYPT1) Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Hypotrichosis 1

MalaCards integrated aliases for Hypotrichosis 1:

Name: Hypotrichosis 1 ⁵⁷ ¹² ⁷³ ²⁹ ⁶ ¹⁵

Hypt1 ⁵⁷ ¹² ⁷³

Hhs ⁵⁷ ¹² ⁷³

Hts ⁵⁷ ¹² ⁷³

Hypotrichosis Simplex ⁷³ ⁷¹

Hypotrichosis Simplex, Generalized, Hereditary; Hhs ⁵⁷

Hypotrichosis Simplex, Generalized, Hereditary ⁵⁷

Hereditary Generalized Hypotrichosis Simplex ¹²

Generalized Hypothricosis Simplex ⁷³

Hypotrichosis Simplex Hereditary ⁷³

Hypotrichosis, Type 1 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

Miscellaneous:
hair loss, progressive, begins about 3-6 months of age
complete loss of scalp hair by 15-20 years of age (some patients)
regrowth of thin and sparse scalp hair observed after cutting (family a)

HPO:

³¹

hypotrichosis 1:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110698

OMIM® ⁵⁷ 605389

OMIM Phenotypic Series ⁵⁷ PS605389

MeSH ⁴⁴ D007039

MedGen ⁴¹ C1854310 C4551976

SNOMED-CT via HPO ⁶⁸ 263681008

UMLS ⁷¹ C1854310

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Summaries for Hypotrichosis 1

OMIM® : ⁵⁷ Hereditary hypotrichosis simplex (HHS) is a rare form of nonsyndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HHS can be largely divided into 2 forms: the scalp-limited form (e.g., 146520) and the generalized form, in which all body hair is affected. HHS is characterized by progressive hair follicle miniaturization, which is a typical feature of androgenetic alopecia (see 109200). HHS can be inherited either as an autosomal dominant or autosomal recessive trait (e.g., HYPT8, 278150) (summary by Shimomura et al., 2010). (605389) (Updated 05-Mar-2021)

MalaCards based summary : Hypotrichosis 1, also known as hypt1, is related to hypotrichosis 2 and substance abuse. An important gene associated with Hypotrichosis 1 is APCDD1 (APC Down-Regulated 1), and among its related pathways/superpathways are Allograft rejection and Immune response NFAT in immune response. The drugs Anti-Infective Agents and Anti-Bacterial Agents have been mentioned in the context of this disorder. Related phenotypes are sparse eyebrow and sparse eyelashes

Disease Ontology : ¹² A hypotrichosis that has material basis in a autosomal dominant mutation of APCDD1 on chromosome 18p11.22.

UniProtKB/Swiss-Prot : ⁷³ Hypotrichosis 1: A rare form of non-syndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HYPT1 inheritance is autosomal dominant.

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Related Diseases for Hypotrichosis 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 616)

#	Related Disease	Score	Top Affiliating Genes
1	hypotrichosis 2	33.2	TNF PPIG LIPH H2AC18 GAPDH CD4
2	substance abuse	31.2	H2AC18 CD4 CCR6 ALB
3	variola major	30.7	CD8A CD4
4	hypotrichosis	30.7	LIPH H2AC18 CCR6 APCDD1
5	acquired immunodeficiency syndrome	30.7	TNF ITGAM IL2 CD4 CCR6 ALB
6	alopecia universalis congenita	30.6	IL2 CD8A CD4
7	acute cystitis	30.5	TNF H2AC18 CD4 CCR6 ALB
8	alcohol use disorder	30.5	H2AC18 GRM5 CCR6 ALB
9	skin disease	30.5	TNF IL2 ICOSLG H2AC18 CD8A CD4
10	schistosomiasis	30.5	TNF IL2 GAPDH ALB
11	thyroid gland disease	30.5	ICOSLG H2AC18 CD4 CCR6 ALB
12	lysosomal storage disease	30.5	TNF H2AC18 CCR6 ALB
13	metachromatic leukodystrophy	30.4	PTPRC ITGAM GAPDH ALB ACTB
14	chickenpox	30.4	TNF IL2 ICOSLG CD8A CD4 CCR6
15	plague	30.4	TNF IL2 H2AC18 CD8A CD4 ALB
16	migraine with or without aura 1	30.4	TNF PPIG H2AC18 GRM5 ALB
17	disease by infectious agent	30.2	TNF PTPRC PPIG IL2 ICOSLG H2AC18
18	immune deficiency disease	30.2	TNF PTPRC ITGAM IL2 ICOSLG H2AC18
19	disease of mental health	30.1	TNF PTPRC PPIG LGALS4 KDM4C ITGAM
20	peripheral nervous system disease	30.1	TNF PTPRC KDM4C IL2 ICOSLG H2AC18
21	leukemia, acute myeloid	30.1	TNF PTPRC KDM4C ITGAM IL2 ICOSLG
22	tumoral calcinosis, hyperphosphatemic, familial, 1	11.5
23	hypotrichosis simplex of the scalp	11.3
24	hypotrichosis 4	11.3
25	dyskeratosis congenita, x-linked	11.3
26	heart-hand syndrome, slovenian type	11.2
27	hypotrichosis 8	11.1
28	charge syndrome	11.1
29	marie unna congenital hypotrichosis	11.1
30	dyskeratosis congenita, autosomal dominant 1	11.0
31	dyskeratosis congenita, autosomal recessive 5	11.0
32	hypotrichosis 3	10.9
33	hypotrichosis 14	10.9
34	hyperinsulinemic hypoglycemia, familial, 6	10.9
35	hypotrichosis simplex	10.9
36	tumoral calcinosis, hyperphosphatemic, familial, 2	10.9
37	tumoral calcinosis, hyperphosphatemic, familial, 3	10.9
38	hoyeraal hreidarsson syndrome	10.9
39	adult acute lymphocytic leukemia	10.6	CD8A CD4 CCR6
40	cork-handlers' disease	10.6	CD8A CD4 ALB
41	anti-basement membrane glomerulonephritis	10.6	CD4 CCR6 ALB
42	riedel's fibrosing thyroiditis	10.6	CD4 ALB
43	esophageal candidiasis	10.6	CD8A CD4 CCR6
44	toxic megacolon	10.6	TNF CCR6 ALB
45	necrotic uveal melanoma	10.6	CD8A CD4
46	meningovascular neurosyphilis	10.6	TNF CD4 ALB
47	legume allergy	10.6	ICOSLG CD4 CCR6
48	fruit allergy	10.6	ICOSLG CD4 CCR6
49	gastrointestinal tuberculosis	10.6	TNF CD4 ALB
50	intestinal tuberculosis	10.6	TNF CD4 ALB

Graphical network of the top 20 diseases related to Hypotrichosis 1:

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Symptoms & Phenotypes for Hypotrichosis 1

Human phenotypes related to Hypotrichosis 1:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	sparse eyebrow ³¹	very rare (1%)	HP:0045075
2	sparse eyelashes ³¹	very rare (1%)	HP:0000653
3	sparse axillary hair ³¹	very rare (1%)	HP:0002215
4	sparse pubic hair ³¹	very rare (1%)	HP:0002225
5	sparse body hair ³¹		HP:0002231

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Skin Nails Hair Hair:
sparse body hair
normal beard hair
sparse eyebrows (in some patients)
sparse eyelashes (in some patients)
sparse or absent scalp hair
more

Skin Nails Hair Nails:
normal nails

Head And Neck Eyes:
sparse eyebrows (in some patients)
sparse eyelashes (in some patients)

Skin Nails Hair Skin:
normal skin
normal sweat glands
normal scalp

Head And Neck Teeth:
normal teeth

Clinical features from OMIM®:

605389 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Hypotrichosis 1:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	no phenotypic analysis	MP:0003012	9.17	ACTB APCDD1 CD4 IL2 KDM4C PTPRC

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Drugs & Therapeutics for Hypotrichosis 1

Drugs for Hypotrichosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#	Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1	Anti-Infective Agents		Phase 2
2	Anti-Bacterial Agents		Phase 2
3	Gentamicins		Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	The Efficacy of Topical Gentamycin for the Treatment of Hereditary Hypotrichosis Simplex Caused by Heterozygous Nonsense Mutations in CDSN Encoding Corneodesmosin	Unknown status	NCT03492866	Phase 2	Gentamicin Sulfate

Search NIH Clinical Center for Hypotrichosis 1

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Genetic Tests for Hypotrichosis 1

Genetic tests related to Hypotrichosis 1:

#	Genetic test	Affiliating Genes
1	Hypotrichosis 1 ²⁹	APCDD1

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Anatomical Context for Hypotrichosis 1

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Publications for Hypotrichosis 1

Articles related to Hypotrichosis 1:

#	Title	Authors	PMID	Year
1	APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. ⁶ ⁵⁷	Shimomura Y...Christiano AM	20393562	2010
2	An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. ⁵⁷ ⁶	Baumer A...Schinzel A	10878665	2000
3	A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family. ⁶	Li M...Yao Z	22512811	2012
4	A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities. ⁶¹	Farkas K...Szell M	22584530	2012

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Genes for Hypotrichosis 1

Genes related to Hypotrichosis 1 (2 elite genes):

(show top 50) (show all 63)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	APCDD1	APC Down-Regulated 1	Protein Coding	1315.6	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	20393562 10878665 22512811
2	LIPH	Lipase H	Protein Coding	403.29	Pathogenic ⁶ DISEASES inferred ¹⁵
3	KDM4C	Lysine Demethylase 4C	Protein Coding	8.11	DISEASES inferred ¹⁵ ¹⁵
4	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	8.06	DISEASES inferred ¹⁵ ¹⁵
5	H2AC18	H2A Clustered Histone 18	Protein Coding	7.91	DISEASES inferred ¹⁵ ¹⁵
6	SPIN1	Spindlin 1	Protein Coding	7.57	DISEASES inferred ¹⁵
7	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	6.76	DISEASES inferred ¹⁵ ¹⁵
8	ALB	Albumin	Protein Coding	6.65	DISEASES inferred ¹⁵
9	LGALS4	Galectin 4	Protein Coding	6.45	DISEASES inferred ¹⁵
10	DENND2B	DENN Domain Containing 2B	Protein Coding	6.31	DISEASES inferred ¹⁵
11	CD4	CD4 Molecule	Protein Coding	6.25	DISEASES inferred ¹⁵
12	GAPDH	Glyceraldehyde-3-Phosphate Dehydrogenase	Protein Coding	6.24	DISEASES inferred ¹⁵
13	PTPRC	Protein Tyrosine Phosphatase Receptor Type C	Protein Coding	6.15	DISEASES inferred ¹⁵
14	CD8A	CD8a Molecule	Protein Coding	6.13	DISEASES inferred ¹⁵
15	ACTB	Actin Beta	Protein Coding	6.11	DISEASES inferred ¹⁵
16	TNF	Tumor Necrosis Factor	Protein Coding	6.05	DISEASES inferred ¹⁵
17	ITGAM	Integrin Subunit Alpha M	Protein Coding	6.02	DISEASES inferred ¹⁵
18	IL2	Interleukin 2	Protein Coding	6.01	DISEASES inferred ¹⁵
19	GRM5	Glutamate Metabotropic Receptor 5	Protein Coding	5.92	DISEASES inferred ¹⁵
20	PPIG	Peptidylprolyl Isomerase G	Protein Coding	5.91	DISEASES inferred ¹⁵
21	IL6	Interleukin 6	Protein Coding	5.89	DISEASES inferred ¹⁵
22	CASP3	Caspase 3	Protein Coding	5.82	DISEASES inferred ¹⁵
23	IHH	Indian Hedgehog Signaling Molecule	Protein Coding	5.82	DISEASES inferred ¹⁵
24	FN1	Fibronectin 1	Protein Coding	5.79	DISEASES inferred ¹⁵
25	IL10	Interleukin 10	Protein Coding	5.77	DISEASES inferred ¹⁵
26	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	5.73	DISEASES inferred ¹⁵
27	HSP90AA1	Heat Shock Protein 90 Alpha Family Class A Member 1	Protein Coding	5.73	DISEASES inferred ¹⁵
28	CD19	CD19 Molecule	Protein Coding	5.69	DISEASES inferred ¹⁵
29	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	5.66	DISEASES inferred ¹⁵
30	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	5.65	DISEASES inferred ¹⁵
31	ITGAX	Integrin Subunit Alpha X	Protein Coding	5.65	DISEASES inferred ¹⁵
32	ANXA5	Annexin A5	Protein Coding	5.64	DISEASES inferred ¹⁵
33	TP53	Tumor Protein P53	Protein Coding	5.62	DISEASES inferred ¹⁵
34	CXCL8	C-X-C Motif Chemokine Ligand 8	Protein Coding	5.6	DISEASES inferred ¹⁵
35	IL4	Interleukin 4	Protein Coding	5.6	DISEASES inferred ¹⁵
36	IL1B	Interleukin 1 Beta	Protein Coding	5.59	DISEASES inferred ¹⁵
37	EGF	Epidermal Growth Factor	Protein Coding	5.56	DISEASES inferred ¹⁵
38	SELL	Selectin L	Protein Coding	5.56	DISEASES inferred ¹⁵
39	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	5.54	DISEASES inferred ¹⁵
40	INS	Insulin	Protein Coding	5.51	DISEASES inferred ¹⁵
41	H3-2	H3.2 Histone (Putative)	Protein Coding	5.49	DISEASES inferred ¹⁵
42	CD28	CD28 Molecule	Protein Coding	5.47	DISEASES inferred ¹⁵
43	CTLA4	Cytotoxic T-Lymphocyte Associated Protein 4	Protein Coding	5.46	DISEASES inferred ¹⁵
44	KDM4E	Lysine Demethylase 4E	Protein Coding	5.42	DISEASES inferred ¹⁵
45	CD44	CD44 Molecule (Indian Blood Group)	Protein Coding	5.4	DISEASES inferred ¹⁵
46	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	5.37	DISEASES inferred ¹⁵
47	ESR1	Estrogen Receptor 1	Protein Coding	5.36	DISEASES inferred ¹⁵
48	FCGR2B	Fc Fragment Of IgG Receptor IIb	Protein Coding	5.35	DISEASES inferred ¹⁵
49	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	5.35	DISEASES inferred ¹⁵
50	CCL2	C-C Motif Chemokine Ligand 2	Protein Coding	5.35	DISEASES inferred ¹⁵

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Variations for Hypotrichosis 1

ClinVar genetic disease variations for Hypotrichosis 1:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	APCDD1	NM_153000.5(APCDD1):c.26T>G (p.Leu9Arg)	SNV	Pathogenic	3161	rs267606659	18:10455004-10455004	18:10455007-10455007
2	LIPH	NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)	SNV	Pathogenic	225403	rs201249971	3:185237080-185237080	3:185519292-185519292

UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 1:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	APCDD1	p.Leu9Arg	VAR_063497	rs267606659

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Expression for Hypotrichosis 1

Search GEO for disease gene expression data for Hypotrichosis 1.

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Pathways for Hypotrichosis 1

Pathways related to Hypotrichosis 1 according to GeneCards Suite gene sharing:

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	Allograft rejection ³⁶ ¹ Show member pathways Antigen processing and presentation ³⁶ Asthma ³⁶ Autoimmune thyroid disease ³⁶ CTL Mediated Apoptosis ⁶³ Graft-versus-host disease ³⁶ Intestinal immune network for IgA production ³⁶ THC Differentiation Pathway ⁶³ Type I diabetes mellitus ³⁶ Viral myocarditis ³⁶	12.68	TNF IL2 ICOSLG CD8A CD4 ACTB
2	Immune response NFAT in immune response ²³ Show member pathways Immune response CD28 signaling ²³ Immune response ICOS pathway in T-helper cell ²³ Immune response T cell receptor signaling pathway ²³	12.48	TNF PTPRC IL2 ICOSLG CD4
3	T cell receptor signaling pathway ³⁶ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁶ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.43	TNF PTPRC IL2 CD8A CD4
4	ICos-ICosL Pathway in T-Helper Cell ⁶³ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶³ CD28 Signaling in T-Helper Cell ⁶³	12.15	PTPRC IL2 ICOSLG CD4 ACTB
5	Cell adhesion molecules ³⁶	11.89	PTPRC ITGAM ICOSLG CD8A CD4
6	Yersinia infection ³⁶	11.79	TNF IL2 CD8A CD4 ACTB
7	Hematopoietic cell lineage ³⁶	11.7	TNF ITGAM CD8A CD4
8	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁴	11.7	TNF PTPRC ITGAM IL2 CD8A CD4
9	Th1 Differentiation Pathway ⁶⁴ Show member pathways IL27-mediated signaling events ¹	11.61	TNF IL2 CD4
10	IgA-Producing B Cells in the Intestine ⁶⁴	11.54	TNF ICOSLG CCR6
11	Downstream signaling in naive CD8+ T cells ¹ Show member pathways Ras signaling in the CD4+ TCR pathway ¹	11.5	TNF IL2 CD8A
12	MSP-RON Signaling ⁶³	11.37	TNF ITGAM ACTB
13	Dendritic Cells Developmental Lineage Pathway ⁶⁴	11.3	TNF PTPRC ITGAM IL2 CD8A CD4
14	Primary immunodeficiency ³⁶	11.23	PTPRC CD8A CD4
15	Cytokines and Inflammatory Response ¹	11.07	TNF IL2 CD4
16	Innate Lymphoid Cell Differentiation Pathways ⁶⁴	11.07	TNF PTPRC ITGAM IL2 CD8A CD4

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GO Terms for Hypotrichosis 1

Cellular components related to Hypotrichosis 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	9.8	TNF PTPRC LIPH LGALS4 ITGAM ICOSLG
2	membrane raft	GO:0045121	9.46	TNF PTPRC ITGAM CD4
3	external side of plasma membrane	GO:0009897	9.17	TNF PTPRC ITGAM ICOSLG CD8A CD4

Biological processes related to Hypotrichosis 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	immune response	GO:0006955	9.85	TNF IL2 CD8A CD4 CCR6
2	positive regulation of ERK1 and ERK2 cascade	GO:0070374	9.71	TNF PTPRC DENND2B CD4
3	positive regulation of T cell proliferation	GO:0042102	9.54	PTPRC IL2 CD4
4	positive regulation of protein kinase activity	GO:0045860	9.5	TNF PTPRC CD4
5	positive regulation of isotype switching to IgG isotypes	GO:0048304	9.43	PTPRC IL2
6	T cell differentiation	GO:0030217	9.33	PTPRC IL2 CD4
7	positive regulation of humoral immune response mediated by circulating immunoglobulin	GO:0002925	9.26	TNF PTPRC
8	DN2 thymocyte differentiation	GO:1904155	8.96	PTPRC CCR6
9	T cell activation	GO:0042110	8.92	PTPRC ICOSLG CD8A CD4

Molecular functions related to Hypotrichosis 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	identical protein binding	GO:0042802	9.23	TNF ICOSLG GRM5 GAPDH CD4 APCDD1

Sources

Sources for Hypotrichosis 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 EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Hypotrichosis 1 (HYPT1)

Aliases & Classifications for Hypotrichosis 1

MalaCards integrated aliases for Hypotrichosis 1:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Hypotrichosis 1

Related Diseases for Hypotrichosis 1

Diseases in the Hypotrichosis family:

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

Graphical network of the top 20 diseases related to Hypotrichosis 1:

Symptoms & Phenotypes for Hypotrichosis 1

Human phenotypes related to Hypotrichosis 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Hypotrichosis 1:

Drugs & Therapeutics for Hypotrichosis 1

Drugs for Hypotrichosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Hypotrichosis 1

Genetic tests related to Hypotrichosis 1:

Anatomical Context for Hypotrichosis 1

Publications for Hypotrichosis 1

Articles related to Hypotrichosis 1:

Genes for Hypotrichosis 1

Genes related to Hypotrichosis 1 (2 elite genes):

Variations for Hypotrichosis 1

ClinVar genetic disease variations for Hypotrichosis 1:

UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 1:

Expression for Hypotrichosis 1

Pathways for Hypotrichosis 1

Pathways related to Hypotrichosis 1 according to GeneCards Suite gene sharing:

GO Terms for Hypotrichosis 1

Cellular components related to Hypotrichosis 1 according to GeneCards Suite gene sharing:

Biological processes related to Hypotrichosis 1 according to GeneCards Suite gene sharing:

Molecular functions related to Hypotrichosis 1 according to GeneCards Suite gene sharing:

Sources for Hypotrichosis 1