KRT74

Summary

KRT74 (keratin 74, HGNC:28929) is a protein-coding gene on chromosome 12q13.13, encoding Keratin, type II cytoskeletal 74 (Q7RTS7). Has a role in hair formation.

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.

Source: NCBI Gene 121391 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal dominant wooly hair (Strong, GenCC) — +5 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 240 total — 3 pathogenic
• Phenotypes (HPO): 48
• MANE Select transcript: NM_175053

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28929
Approved symbol	KRT74
Name	keratin 74
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Aliases	K6IRS4, KRT5C, KRT6IRS4
Ensembl gene	ENSG00000170484
Ensembl biotype	protein_coding
OMIM	608248
Entrez	121391

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron

ENST00000305620, ENST00000546384, ENST00000549343

RefSeq mRNA: 1 — MANE Select: NM_175053 NM_175053

CCDS: CCDS8832

Canonical transcript exons

ENST00000305620 — 9 exons

Exon	Start	End
ENSE00001154096	52568169	52568389
ENSE00001154101	52569859	52569984
ENSE00001154113	52571359	52571454
ENSE00001283840	52573307	52573843
ENSE00001643303	52572453	52572667
ENSE00001657470	52571944	52572004
ENSE00001709270	52570669	52570833
ENSE00002371812	52565782	52567168
ENSE00003658251	52567659	52567693

Expression profiles

Bgee: expression breadth broad, 40 present calls, max score 93.04.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0249 / max 37.2424, expressed in 2 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131096	0.0249	2

Top tissues by expression

222 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	93.04	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.12	silver quality
tibialis anterior	UBERON:0001385	70.51	silver quality
ileal mucosa	UBERON:0000331	70.27	silver quality
pancreatic ductal cell	CL:0002079	70.19	silver quality
skin of hip	UBERON:0001554	70.12	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	66.17	gold quality
oocyte	CL:0000023	61.88	gold quality
nipple	UBERON:0002030	61.08	gold quality
corpus epididymis	UBERON:0004359	60.72	gold quality
myocardium	UBERON:0002349	60.31	gold quality
quadriceps femoris	UBERON:0001377	59.93	gold quality
zone of skin	UBERON:0000014	59.86	gold quality
vastus lateralis	UBERON:0001379	58.97	gold quality
skin of abdomen	UBERON:0001416	58.72	gold quality
skin of leg	UBERON:0001511	58.16	gold quality
vena cava	UBERON:0004087	57.07	gold quality
body of tongue	UBERON:0011876	57.00	gold quality
pharyngeal mucosa	UBERON:0000355	56.96	gold quality
lateral nuclear group of thalamus	UBERON:0002736	56.89	gold quality
heart right ventricle	UBERON:0002080	56.49	gold quality
epithelial cell of pancreas	CL:0000083	55.89	gold quality
tongue	UBERON:0001723	54.96	gold quality
layer of synovial tissue	UBERON:0007616	54.90	gold quality
gingival epithelium	UBERON:0001949	54.68	gold quality
synovial joint	UBERON:0002217	54.37	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
endothelial cell	CL:0000115	54.25	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
substantia nigra pars reticulata	UBERON:0001966	54.19	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.46

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting KRT74, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-3128	99.50	67.85	1258
HSA-MIR-1324	99.46	66.57	1302
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-5009-3P	99.45	69.43	1341
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-4762-3P	99.43	69.72	2363
HSA-MIR-593-5P	99.34	69.50	965
HSA-MIR-3614-5P	99.30	65.25	837
HSA-MIR-422A	99.18	65.83	550
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-7160-5P	99.11	67.17	2207

Literature-anchored findings (GeneRIF, showing 4)

• report on the cloning of two novel human type II keratin cDNAs, K6irs3 and K6irs4, which were specifically expressed in the inner root sheath of the hair follicle (PMID:12648212)
• Single Nucleotide Polymorphisms in KRT74 gene is associated with woolly hair. (PMID:20346438)
• Data provide evidence implicating that the KRT74 gene in the pathogenesis of autosomal dominant hair loss disorders. (PMID:21188418)
• These observations show for the first time that homozygosity for a KRT74 missense variant may be associated with autosomal recessive pure hair and nail ectodermal dysplasia. (PMID:24714551)

Cross-species orthologs

0 orthologs

Paralogs (68): KRT33A (ENSG00000006059), VIM (ENSG00000026025), KRT31 (ENSG00000094796), NEFM (ENSG00000104722), KRT23 (ENSG00000108244), KRT37 (ENSG00000108417), KRT32 (ENSG00000108759), KRT18 (ENSG00000111057), LMNB1 (ENSG00000113368), KRT36 (ENSG00000126337), KRT17 (ENSG00000128422), GFAP (ENSG00000131095), KRT34 (ENSG00000131737), KRT33B (ENSG00000131738), NES (ENSG00000132688), PRPH (ENSG00000135406), KRT85 (ENSG00000135443), KRT7 (ENSG00000135480), KRT71 (ENSG00000139648), INA (ENSG00000148798), LMNTD1 (ENSG00000152936), LMNA (ENSG00000160789), KRT84 (ENSG00000161849), KRT82 (ENSG00000161850), KRT80 (ENSG00000167767), KRT1 (ENSG00000167768), KRT24 (ENSG00000167916), KRT8 (ENSG00000170421), KRT78 (ENSG00000170423), KRT86 (ENSG00000170442), KRT75 (ENSG00000170454), KRT6C (ENSG00000170465), KRT4 (ENSG00000170477), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360), KRT13 (ENSG00000171401)

Protein

Protein identifiers

Keratin, type II cytoskeletal 74 — Q7RTS7 (reviewed: Q7RTS7)

Alternative names: Cytokeratin-74, Keratin-5c, Keratin-74, Type II inner root sheath-specific keratin-K6irs4, Type-II keratin Kb37

All UniProt accessions (2): Q7RTS7, F8W1S1

UniProt curated annotations — full annotation on UniProt →

Function. Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle.

Subunit / interactions. Heterotetramer of two type I and two type II keratins.

Tissue specificity. Highly expressed in hair follicles from scalp. In hair, it is specifically present in the inner root sheath (IRS) of the hair follicle. Present in the IRS Huxley layer, but not in Henle layer or cuticle of the IRS. In the IRS Huxley layer, it is expressed in specialized Huxley cells, termed ‘Fluegelzellen, along the area of differentiated Henle cells (at protein level).

Disease relevance. Woolly hair autosomal dominant (ADWH) [MIM:194300] A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. The disease is caused by variants affecting the gene represented in this entry. Hypotrichosis 3 (HYPT3) [MIM:613981] A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. HYPT3 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. Ectodermal dysplasia 7, hair/nail type (ECTD7) [MIM:614929] A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. Ectodermal dysplasia of the hair/nail type is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

Similarity. Belongs to the intermediate filament family.

RefSeq proteins (1): NP_778223* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003054	Keratin_II	Family
IPR018039	IF_conserved	Conserved_site
IPR032444	Keratin_2_head	Domain
IPR039008	IF_rod_dom	Domain

Pfam: PF00038, PF16208

UniProt features (22 total): sequence variant 8, region of interest 8, compositionally biased region 2, chain 1, domain 1, site 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7RTS7-F1	72.11	0.48

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 391 (stutter)

Post-translational modifications (1): 513

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6805567	Keratinization
R-HSA-6809371	Formation of the cornified envelope
R-HSA-1266738	Developmental Biology

MSigDB gene sets: 116 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, GOBP_EPIDERMIS_DEVELOPMENT, AML1_01, GOBP_KERATINIZATION, GOBP_SKIN_DEVELOPMENT, TAATTA_CHX10_01, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GOMF_INTERMEDIATE_FILAMENT_BINDING, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, MARTENS_TRETINOIN_RESPONSE_UP, GOBP_SUPRAMOLECULAR_FIBER_ORGANIZATION

GO Biological Process (3): keratinization (GO:0031424), intermediate filament cytoskeleton organization (GO:0045104), intermediate filament organization (GO:0045109)

GO Molecular Function (3): structural constituent of skin epidermis (GO:0030280), keratin filament binding (GO:1990254), protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), cytosol (GO:0005829), keratin filament (GO:0045095), extracellular exosome (GO:0070062), intermediate filament (GO:0005882)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Developmental Biology	1
Keratinization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
keratinocyte differentiation	1
multicellular organismal process	1
cytoskeleton organization	1
intermediate filament-based process	1
intermediate filament cytoskeleton organization	1
supramolecular fiber organization	1
structural molecule activity	1
intermediate filament binding	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
intermediate filament	1
extracellular vesicle	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

352 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRT74	LPAR6	P43657	863
KRT74	CUTC	Q9NTM9	522
KRT74	LIPH	Q8WWY8	484
KRT74	GPR50	Q13585	434
KRT74	HOXC13	P31276	422
KRT74	KRTAP3-1	Q9BYR8	419
KRT74	RSPO2	Q6UXX9	402
KRT74	EDARADD	Q8WWZ3	378
KRT74	EDAR	Q9UNE0	377
KRT74	CDSN	Q15517	335
KRT74	APCDD1	Q8J025	331
KRT74	TCHH	Q07283	314
KRT74	KRTAP4-3	Q9BYR4	314
KRT74	KRTAP3-2	Q9BYR7	312
KRT74	ATP11B	Q9Y2G3	305

IntAct

59 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
KRT37	KRT74	psi-mi:“MI:0915”(physical association)	0.630
KRT74	KRT37	psi-mi:“MI:0915”(physical association)	0.630
KRT19	KRT74	psi-mi:“MI:0915”(physical association)	0.560
KRT15	KRT74	psi-mi:“MI:0915”(physical association)	0.560
KRT39	KRT74	psi-mi:“MI:0915”(physical association)	0.560
KRT31	KRT74	psi-mi:“MI:0915”(physical association)	0.560
KRT16	KRT74	psi-mi:“MI:0915”(physical association)	0.560
KRT74	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT38	KRT74	psi-mi:“MI:0915”(physical association)	0.560
KRT13	KRT74	psi-mi:“MI:0915”(physical association)	0.560
KRT74	KRT27	psi-mi:“MI:0915”(physical association)	0.560
KRT74	KRT35	psi-mi:“MI:0915”(physical association)	0.560
LMO4	KRT74	psi-mi:“MI:0915”(physical association)	0.560
KRT74	KRT26	psi-mi:“MI:0915”(physical association)	0.560
KRT34	KRT74	psi-mi:“MI:0915”(physical association)	0.560
YAP1	TEAD1	psi-mi:“MI:0914”(association)	0.350
KATNIP		psi-mi:“MI:0914”(association)	0.350
CFTR	POTEF	psi-mi:“MI:0914”(association)	0.350
KLF5		psi-mi:“MI:0914”(association)	0.350
SULF2	HNRNPCL1	psi-mi:“MI:0914”(association)	0.350
SULF2	IGHA1	psi-mi:“MI:0914”(association)	0.350
LGALS3BP	IGHV3-64D	psi-mi:“MI:0914”(association)	0.350
LGALS3BP	PHGDH	psi-mi:“MI:0914”(association)	0.350
	PIK3R2	psi-mi:“MI:0914”(association)	0.350
KRT74	KRT19	psi-mi:“MI:0915”(physical association)	0.000
KRT74	KRT15	psi-mi:“MI:0915”(physical association)	0.000
KRT74	KRT39	psi-mi:“MI:0915”(physical association)	0.000
KRT74	KRT37	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (40): KRT74 (Affinity Capture-MS), KRT74 (Two-hybrid), KRT74 (Two-hybrid), KRT74 (Two-hybrid), KRT74 (Two-hybrid), KRT19 (Two-hybrid), KRT15 (Two-hybrid), KRT38 (Two-hybrid), KRT13 (Two-hybrid), KRT27 (Two-hybrid), KRT26 (Two-hybrid), KRT16 (Two-hybrid), KRT39 (Two-hybrid), KRT35 (Two-hybrid), KRT25 (Two-hybrid)

ESM2 similar proteins: A0JND2, A3KN27, A6BLY7, A6H712, A6QNX5, A6QQJ3, A7YWK3, D3ZER2, E1AB55, O76014, O76015, P08552, P15331, P21807, P35617, P41219, P46660, P48670, Q0VBK2, Q13515, Q148H5, Q148H6, Q148H8, Q14CN4, Q28177, Q3SY84, Q3TRJ4, Q6A162, Q6IFW3, Q6IFW8, Q6IFX0, Q6IFX4, Q6IFZ9, Q6IG04, Q6IME9, Q6IMF1, Q6KB66, Q6NVD9, Q6NXH9, Q7RTS7

Diamond homologs: A0A125S9M6, A0JND2, A4FUZ0, A5A6M8, A6NCN2, A7YWK3, O43790, P02542, P02545, P02547, P02548, P04104, P04260, P04261, P04262, P04263, P07196, P07744, P08551, P08928, P09010, P10999, P12035, P12036, P13647, P13648, P15241, P16884, P19013, P19246, P19527, P21619, P21910, P25691, P35908, P48671, P48672, P48678, P48679, P78385

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 28 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of the cornified envelope	13	54.4×	5e-19
Keratinization	13	34.5×	1e-16

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	13	178.8×	2e-25
intermediate filament organization	13	125.2×	1e-23
epithelial cell differentiation	12	84.3×	2e-19

Disease & clinical

Clinical variants and AI predictions

ClinVar

240 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	125
Likely benign	32
Benign	71

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
2460	NM_175053.4(KRT74):c.444C>G (p.Asn148Lys)	Pathogenic
30719	NM_175053.4(KRT74):c.1444G>A (p.Asp482Asn)	Pathogenic
66968	NM_175053.4(KRT74):c.1391-1G>A	Pathogenic

SpliceAI

1522 predictions. Top by Δscore:

Variant	Effect	Δscore
12:52568164:CCTA:C	donor_loss	1.0000
12:52568165:CTA:C	donor_loss	1.0000
12:52568167:A:AC	donor_gain	1.0000
12:52568167:ACCT:A	donor_loss	1.0000
12:52568168:C:CC	donor_gain	1.0000
12:52568385:GCACG:G	acceptor_gain	1.0000
12:52568386:CACG:C	acceptor_gain	1.0000
12:52568386:CACGC:C	acceptor_gain	1.0000
12:52568387:ACG:A	acceptor_gain	1.0000
12:52568388:CG:C	acceptor_gain	1.0000
12:52568388:CGC:C	acceptor_gain	1.0000
12:52568390:C:CC	acceptor_gain	1.0000
12:52568398:C:CT	acceptor_gain	1.0000
12:52568399:A:T	acceptor_gain	1.0000
12:52568405:C:CT	acceptor_gain	1.0000
12:52569858:C:CT	donor_loss	1.0000
12:52569858:CCTG:C	donor_gain	1.0000
12:52569985:C:CC	acceptor_gain	1.0000
12:52569994:C:CT	acceptor_gain	1.0000
12:52569994:C:T	acceptor_gain	1.0000
12:52570829:ATCTC:A	acceptor_gain	1.0000
12:52570831:CTC:C	acceptor_gain	1.0000
12:52570832:TC:T	acceptor_gain	1.0000
12:52570832:TCCTG:T	acceptor_loss	1.0000
12:52570833:CC:C	acceptor_gain	1.0000
12:52570833:CCTGC:C	acceptor_loss	1.0000
12:52570834:C:CC	acceptor_gain	1.0000
12:52570835:T:C	acceptor_loss	1.0000
12:52570837:C:CT	acceptor_gain	1.0000
12:52570839:T:C	acceptor_gain	1.0000

AlphaMissense

3479 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:52573325:G:C	F151L	0.976
12:52573325:G:T	F151L	0.976
12:52573327:A:G	F151L	0.976
12:52571947:C:A	K248N	0.963
12:52571947:C:G	K248N	0.963
12:52571959:A:C	F244L	0.963
12:52571959:A:T	F244L	0.963
12:52571961:A:G	F244L	0.963
12:52568196:C:G	R443P	0.959
12:52572648:T:G	Q164P	0.950
12:52573326:A:G	F151S	0.950
12:52573326:A:C	F151C	0.941
12:52568228:T:A	K432N	0.939
12:52568228:T:G	K432N	0.939
12:52568229:T:A	K432I	0.939
12:52572618:A:G	L174P	0.938
12:52572663:C:G	R159P	0.938
12:52572626:C:A	K171N	0.936
12:52572626:C:G	K171N	0.936
12:52568190:A:G	L445P	0.933
12:52568359:C:G	A389P	0.932
12:52572653:C:A	E162D	0.932
12:52572653:C:G	E162D	0.932
12:52570692:C:G	A329P	0.931
12:52572651:T:G	Q163P	0.931
12:52573323:G:T	A152D	0.931
12:52568200:A:C	Y442D	0.923
12:52568211:T:A	E438V	0.922
12:52572546:A:G	L198P	0.922
12:52573316:G:C	F154L	0.921

dbSNP variants (sampled 300 via entrez): RS1000317749 (12:52569791 C>A,T), RS1001134875 (12:52569601 C>A), RS1001165683 (12:52573370 C>T), RS1001687748 (12:52570582 A>G), RS1001718843 (12:52570321 C>G,T), RS1001830233 (12:52575662 A>C), RS1001947401 (12:52575406 G>A,C,T), RS1002021255 (12:52569546 C>T), RS1002244564 (12:52569092 G>A), RS1002273978 (12:52569311 AG>A), RS1002569270 (12:52574386 C>T), RS1002721540 (12:52571663 C>G,T), RS1002857224 (12:52573514 G>A), RS1004149661 (12:52566341 A>T), RS1004456076 (12:52566656 C>G,T)

Disease associations

OMIM: gene MIM:608248 | disease phenotypes: MIM:194300, MIM:613981, MIM:614929, MIM:602032

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal dominant wooly hair	Strong	Autosomal dominant
hypotrichosis 3	Moderate	Autosomal dominant
isolated familial wooly hair disorder	Supportive	Autosomal dominant
pure hair and nail ectodermal dysplasia	Supportive	Autosomal dominant
hypotrichosis simplex of the scalp	Supportive	Autosomal dominant
ectodermal dysplasia 7, hair/nail type	Limited	Autosomal recessive

Mondo (7): autosomal dominant wooly hair (MONDO:0020717), hypotrichosis 3 (MONDO:0013514), ectodermal dysplasia 7, hair/nail type (MONDO:0013975), ectodermal dysplasia 4, hair/nail type (MONDO:0011177), isolated familial wooly hair disorder (MONDO:0008686), pure hair and nail ectodermal dysplasia (MONDO:0019071), hypotrichosis simplex of the scalp (MONDO:0019575)

Orphanet (3): Woolly hair (Orphanet:170), Pure hair and nail ectodermal dysplasia (Orphanet:69084), Hypotrichosis simplex of the scalp (Orphanet:90368)

HPO phenotypes

48 total (30 of 48 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000164	Abnormality of the dentition
HP:0000479	Abnormal retinal morphology
HP:0000486	Strabismus
HP:0000499	Abnormal eyelash morphology
HP:0000518	Cataract
HP:0000534	Abnormal eyebrow morphology
HP:0000615	Abnormal pupil morphology
HP:0000653	Sparse eyelashes
HP:0000951	Abnormality of the skin
HP:0000962	Hyperkeratosis
HP:0000971	Abnormal sweat gland morphology
HP:0000972	Palmoplantar hyperkeratosis
HP:0000989	Pruritus
HP:0001036	Parakeratosis
HP:0001047	Atopic dermatitis
HP:0001596	Alopecia
HP:0001597	Abnormal nail morphology
HP:0001806	Onycholysis
HP:0001810	Dystrophic toenail
HP:0002208	Coarse hair
HP:0002209	Sparse scalp hair
HP:0002213	Fine hair
HP:0002217	Slow-growing hair
HP:0002224	Woolly hair
HP:0002231	Sparse body hair
HP:0002293	Alopecia of scalp
HP:0002299	Brittle hair
HP:0002550	Absent facial hair

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009936_19	Venous thromboembolism	9.000000e-06

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C566592	Ectodermal Dysplasia, Pure Hair-Nail Type (supp.)
C536745	Woolly hair, congenital (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	increases methylation	2
bisphenol A	decreases methylation	1
(+)-JQ1 compound	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Dinitrochlorobenzene	affects binding	1
Estradiol	affects binding, increases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.