DCAF17

Summary

DCAF17 (DDB1 and CUL4 associated factor 17, HGNC:25784) is a protein-coding gene on chromosome 2q31.1, encoding DDB1- and CUL4-associated factor 17 (Q5H9S7). May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.

This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 80067 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Woodhouse-Sakati syndrome (Definitive, ClinGen)
• Clinical variants (ClinVar): 590 total — 38 pathogenic, 16 likely-pathogenic
• Phenotypes (HPO): 41
• MANE Select transcript: NM_025000

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25784
Approved symbol	DCAF17
Name	DDB1 and CUL4 associated factor 17
Location	2q31.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13096
Ensembl gene	ENSG00000115827
Ensembl biotype	protein_coding
OMIM	612515
Entrez	80067

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 16 protein_coding, 3 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000339506, ENST00000375255, ENST00000431110, ENST00000436317, ENST00000468592, ENST00000480855, ENST00000490217, ENST00000493106, ENST00000495925, ENST00000498486, ENST00000539783, ENST00000611110, ENST00000907632, ENST00000907633, ENST00000907634, ENST00000907635, ENST00000907636, ENST00000917790, ENST00000917791, ENST00000917792, ENST00000917793, ENST00000917794, ENST00000917795, ENST00000966668

RefSeq mRNA: 2 — MANE Select: NM_025000 NM_001164821, NM_025000

CCDS: CCDS2243, CCDS54419

Canonical transcript exons

ENST00000375255 — 14 exons

Exon	Start	End
ENSE00001384922	171480974	171485052
ENSE00001788352	171458372	171458477
ENSE00003464123	171476860	171476950
ENSE00003478193	171468888	171469030
ENSE00003487995	171435083	171435186
ENSE00003555132	171477987	171478070
ENSE00003575897	171443523	171443613
ENSE00003580088	171449879	171449957
ENSE00003582417	171473866	171473975
ENSE00003605116	171448681	171448817
ENSE00003641799	171453124	171453213
ENSE00003646832	171457971	171458075
ENSE00003674168	171480038	171480193
ENSE00003842943	171434226	171434703

Expression profiles

Bgee: expression breadth ubiquitous, 220 present calls, max score 85.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.6929 / max 110.7990, expressed in 1751 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
23654	4.5440	1645
23656	2.9614	1134
23655	1.1821	716
23657	0.0054	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	85.42	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.41	gold quality
adrenal tissue	UBERON:0018303	85.17	gold quality
secondary oocyte	CL:0000655	84.41	gold quality
calcaneal tendon	UBERON:0003701	84.05	gold quality
ganglionic eminence	UBERON:0004023	83.57	gold quality
body of uterus	UBERON:0009853	83.48	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.28	gold quality
right lobe of thyroid gland	UBERON:0001119	83.07	gold quality
ventricular zone	UBERON:0003053	82.85	gold quality
left lobe of thyroid gland	UBERON:0001120	82.61	gold quality
left ovary	UBERON:0002119	82.55	gold quality
colonic epithelium	UBERON:0000397	82.32	gold quality
thyroid gland	UBERON:0002046	81.97	gold quality
rectum	UBERON:0001052	81.79	gold quality
right ovary	UBERON:0002118	81.76	gold quality
monocyte	CL:0000576	81.72	gold quality
endocervix	UBERON:0000458	81.55	gold quality
body of pancreas	UBERON:0001150	81.50	gold quality
gall bladder	UBERON:0002110	81.48	gold quality
mononuclear cell	CL:0000842	81.42	gold quality
leukocyte	CL:0000738	81.38	gold quality
tibial nerve	UBERON:0001323	81.11	gold quality
right adrenal gland cortex	UBERON:0035827	81.07	gold quality
muscle layer of sigmoid colon	UBERON:0035805	81.06	gold quality
islet of Langerhans	UBERON:0000006	80.89	gold quality
stromal cell of endometrium	CL:0002255	80.88	gold quality
right adrenal gland	UBERON:0001233	80.59	gold quality
right coronary artery	UBERON:0001625	80.56	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	80.48	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-124858	no	122.10
E-ANND-3	no	5.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

153 targeting DCAF17, 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-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977

Literature-anchored findings (GeneRIF, showing 14)

• Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. (PMID:19026396)
• C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients (PMID:20507343)
• A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome (PMID:21044051)
• Pakistani family with clinical manifestations of Woodhouse-Sakati Syndrome; DNA sequence analysis revealed a novel splice site mutation (c.321 + 1 G > A) in the gene C2orf37, mapped on chromosomes 2q22.3-2q35 (PMID:21963443)
• Mutations in C2orf37 are responsible for Woodhouse-Sakati syndrome. (PMID:21964978)
• The results of this study demonistrated that the syndrome of deafness-dystonia is cause by mutation of DCAF17. (PMID:23418071)
• Direct sequencing of the C2orf37 gene revealed that the c.436delC (p.Ala147Hisfs*9) mutation was present in a homozygous state in all affected siblings and in a heterozygous state in the parents and a healthy sister. (PMID:24015686)
• two novel frameshift mutations in C2orf37 present in the compound heterozygous state in an Indian family with Woodhouse-Sakati syndrome, is reported. (PMID:26440089)
• This signifies the vital yet unexplored role of DCAF17 both in development and maintenance of adult tissues homeostasis. (PMID:26612766)
• Exome sequencing in 5 women with syndromic hypergonadotropic hypogonadism from 2 unrelated families revealed novel pathogenic variants in the DCAF17 gene. DCAF17 exon 2 (c.127-1G > C) novel homozygous variants were discovered in 4 Turkish siblings, while 1 American was compound heterozygous for 1-stop gain variant in exon 5 (c.C535T; p.Gln179*) and previously described stop gain variant in exon 9 (c.G906A; p.Trp302*). (PMID:29178422)
• The phenotypic variability of Woodhouse-Sakati syndrome due to c.436delC founder DCAF17 mutation may have a wider range than previously recognized. (PMID:29574468)
• Analysis of the exome data revealed a start loss sequence variant (c.1A>G, p.M1?) in DCAF17 in a Pakastani family with Woodhouse-Sakati syndrome. This variant is predicted to abolish translation of the DCAF17 polypeptide. To our knowledge, this is the first start loss variant identified in the DCAF17. (PMID:31323129)
• Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi sisters with urogenital anomalies. (PMID:34732557)
• Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family. (PMID:34877714)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dcaf17	ENSDARG00000074909
mus_musculus	Dcaf17	ENSMUSG00000041966
rattus_norvegicus	Dcaf17	ENSRNOG00000009403

Protein

Protein identifiers

DDB1- and CUL4-associated factor 17 — Q5H9S7 (reviewed: Q5H9S7)

All UniProt accessions (5): Q5H9S7, F5H7W1, H0Y2X0, H7C1H3, H7C244

UniProt curated annotations — full annotation on UniProt →

Function. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.

Subunit / interactions. Interacts with DDB1, CUL4A and CUL4B.

Subcellular location. Membrane. Nucleus. Nucleolus.

Tissue specificity. Ubiquitously expressed.

Disease relevance. Woodhouse-Sakati syndrome (WDSKS) [MIM:241080] A rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein ubiquitination.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5H9S7-1	1	yes
Q5H9S7-2	2

RefSeq proteins (2): NP_001158293, NP_079276* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031620	DCAF17	Family

Pfam: PF15802

UniProt features (6 total): transmembrane region 2, chain 1, splice variant 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5H9S7-F1	87.38	0.65

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8951664	Neddylation

MSigDB gene sets: 224 (showing top): GOBP_VESICLE_ORGANIZATION, GCANCTGNY_MYOD_Q6, GOBP_MALE_GAMETE_GENERATION, CAGCTG_AP4_Q5, AACWWCAANK_UNKNOWN, GOBP_SECRETORY_GRANULE_ORGANIZATION, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, TGIF_01, GOBP_ACROSOME_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, DOUGLAS_BMI1_TARGETS_DN, PU1_Q6

GO Biological Process (4): cell morphogenesis (GO:0000902), acrosome assembly (GO:0001675), protein ubiquitination (GO:0016567), spermatogenesis (GO:0007283)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), membrane (GO:0016020), Cul4-RING E3 ubiquitin ligase complex (GO:0080008), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
developmental process involved in reproduction	2
nuclear lumen	2
anatomical structure morphogenesis	1
spermatid development	1
cellular component assembly involved in morphogenesis	1
cellular process involved in reproduction in multicellular organism	1
secretory granule organization	1
organelle assembly	1
protein modification by small protein conjugation	1
male gamete generation	1
binding	1
intracellular membraneless organelle	1
cytoplasm	1
cullin-RING ubiquitin ligase complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1176 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DCAF17	C19orf12	Q9NSK7	772
DCAF17	COASY	Q13057	768
DCAF17	PANK2	Q9BZ23	735
DCAF17	FA2H	Q7L5A8	719
DCAF17	WDR45	Q9Y484	715
DCAF17	GTPBP2	Q9BX10	701
DCAF17	PLA2G6	O60733	669
DCAF17	ATP13A2	Q9NQ11	665
DCAF17	NPM1	P06748	648
DCAF17	FTL	P02792	581
DCAF17	REPS1	Q96D71	536
DCAF17	AP4M1	O00189	488
DCAF17	VPS13A	Q96RL7	471
DCAF17	PIGV	Q9NUD9	443
DCAF17	TANC2	Q9HCD6	439

IntAct

12 interactions, top by confidence:

A	B	Type	Score
SPATA24	GGPS1	psi-mi:“MI:0914”(association)	0.530
RAB40B	RAB40AL	psi-mi:“MI:0914”(association)	0.530
ZMAT3	ACTA2	psi-mi:“MI:0914”(association)	0.530
PTCHD1	DCAF17	psi-mi:“MI:0915”(physical association)	0.370
DDA1	PGK1	psi-mi:“MI:0914”(association)	0.350
DDB1	POLRMT	psi-mi:“MI:0914”(association)	0.350
HOXB6	TRAPPC3	psi-mi:“MI:0914”(association)	0.350
PCNP	PAPSS2	psi-mi:“MI:0914”(association)	0.350

BioGRID (300): DDB1 (Affinity Capture-Western), CUL4A (Affinity Capture-Western), CUL4B (Affinity Capture-Western), DCAF17 (Affinity Capture-MS), DCAF17 (Affinity Capture-MS), DCAF17 (Synthetic Growth Defect), DCAF17 (Affinity Capture-MS), DCAF17 (Affinity Capture-MS), DCAF17 (Affinity Capture-MS), DCAF17 (Synthetic Lethality), DCAF17 (Affinity Capture-MS), DCAF17 (Reconstituted Complex), DCAF17 (Affinity Capture-MS), DCAF17 (Affinity Capture-MS), DCAF17 (Affinity Capture-MS)

ESM2 similar proteins: A2RRP1, A4D1B5, E1BGH8, O43149, O88480, P53995, Q12769, Q13129, Q13315, Q3MHH2, Q3TCV3, Q3TUL7, Q3UHA3, Q3UPC7, Q3URV1, Q402B2, Q4R7B1, Q4R9E9, Q5H9S7, Q5RB52, Q5SSH7, Q5ZL79, Q5ZLS8, Q62388, Q63517, Q6P2C0, Q6TNU3, Q86VV8, Q8BJW5, Q8CE72, Q8IV33, Q8K1K4, Q8K2A7, Q8NB91, Q8NG48, Q8R4Y8, Q8TEL6, Q91VB4, Q920I9, Q92674

Diamond homologs: A8WHR0, B1H299, Q3TUL7, Q5H9S7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	38
Likely pathogenic	16
Uncertain significance	170
Likely benign	266
Benign	59

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069883	NM_025000.4(DCAF17):c.1091+2T>C	Pathogenic
1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	Pathogenic
1454737	NM_025000.4(DCAF17):c.60C>A (p.Cys20Ter)	Pathogenic
209146	NM_025000.4(DCAF17):c.436del (p.Ala147fs)	Pathogenic
212711	NM_025000.4(DCAF17):c.270del (p.Lys90fs)	Pathogenic
216916	NM_025000.4(DCAF17):c.289dup (p.Ile97fs)	Pathogenic
2694507	NM_025000.4(DCAF17):c.1038T>G (p.Tyr346Ter)	Pathogenic
2706275	NM_025000.4(DCAF17):c.578dup (p.Arg194fs)	Pathogenic
2708844	NM_025000.4(DCAF17):c.308G>A (p.Trp103Ter)	Pathogenic
2717550	NM_025000.4(DCAF17):c.535C>T (p.Gln179Ter)	Pathogenic
2734788	NM_025000.4(DCAF17):c.1068dup (p.His357fs)	Pathogenic
2749940	NM_025000.4(DCAF17):c.673_674del (p.Ile225fs)	Pathogenic
2771257	NM_025000.4(DCAF17):c.2T>C (p.Met1Thr)	Pathogenic
2785333	NM_025000.4(DCAF17):c.705_706del (p.Leu235_Tyr236insTer)	Pathogenic
2816473	NM_025000.4(DCAF17):c.894_906del (p.Gly299fs)	Pathogenic
2821852	NM_025000.4(DCAF17):c.554_555del (p.His185fs)	Pathogenic
2840402	NM_025000.4(DCAF17):c.1271del (p.Phe424fs)	Pathogenic
2850434	NM_025000.4(DCAF17):c.539dup (p.Gly181fs)	Pathogenic
2862216	NM_025000.4(DCAF17):c.1127del (p.Ser376fs)	Pathogenic
2863695	NM_025000.4(DCAF17):c.1097T>A (p.Leu366Ter)	Pathogenic
2917250	NM_025000.4(DCAF17):c.1052_1058del (p.Ala351fs)	Pathogenic
3017478	NM_025000.4(DCAF17):c.1A>T (p.Met1Leu)	Pathogenic
31580	NM_025000.4(DCAF17):c.387G>A (p.Trp129Ter)	Pathogenic
31581	NM_025000.4(DCAF17):c.906G>A (p.Trp302Ter)	Pathogenic
31582	NM_025000.4(DCAF17):c.341C>A (p.Ser114Ter)	Pathogenic
31583	NM_025000.4(DCAF17):c.127-3_127-1delinsAA	Pathogenic
3247167	NC_000002.11:g.(?172291088)(172315007_?)del	Pathogenic
3704335	NM_025000.4(DCAF17):c.1231dup (p.Ser411fs)	Pathogenic
3704442	NM_025000.4(DCAF17):c.289del (p.Lys96_Ile97insTer)	Pathogenic
3711824	NM_025000.4(DCAF17):c.751_755del (p.Asp251fs)	Pathogenic

SpliceAI

2632 predictions. Top by Δscore:

Variant	Effect	Δscore
2:171435082:GGAAA:G	acceptor_gain	1.0000
2:171435183:GCAG:G	donor_gain	1.0000
2:171435184:CAG:C	donor_loss	1.0000
2:171435185:AG:A	donor_loss	1.0000
2:171435186:GGTAA:G	donor_loss	1.0000
2:171435187:GT:G	donor_loss	1.0000
2:171435188:T:A	donor_loss	1.0000
2:171443517:TCCCA:T	acceptor_loss	1.0000
2:171443518:CCCA:C	acceptor_loss	1.0000
2:171443521:A:AG	acceptor_gain	1.0000
2:171443521:A:G	acceptor_loss	1.0000
2:171443521:AGT:A	acceptor_gain	1.0000
2:171443522:G:GT	acceptor_gain	1.0000
2:171443522:GT:G	acceptor_gain	1.0000
2:171443522:GTG:G	acceptor_gain	1.0000
2:171443522:GTGT:G	acceptor_gain	1.0000
2:171443522:GTGTT:G	acceptor_gain	1.0000
2:171443611:GTG:G	donor_gain	1.0000
2:171448679:AG:A	acceptor_gain	1.0000
2:171448680:GG:G	acceptor_gain	1.0000
2:171453123:GGCA:G	acceptor_gain	1.0000
2:171453210:AAAGG:A	donor_loss	1.0000
2:171453211:AAGGT:A	donor_loss	1.0000
2:171453212:AGGTA:A	donor_loss	1.0000
2:171453214:GTAA:G	donor_loss	1.0000
2:171453215:T:A	donor_loss	1.0000
2:171468882:CTACA:C	acceptor_loss	1.0000
2:171468883:TACAG:T	acceptor_loss	1.0000
2:171468884:ACAG:A	acceptor_loss	1.0000
2:171468885:CA:C	acceptor_loss	1.0000

AlphaMissense

3409 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:171480185:T:A	W472R	0.999
2:171480185:T:C	W472R	0.999
2:171449889:T:A	W157R	0.998
2:171449889:T:C	W157R	0.998
2:171468953:T:A	W302R	0.998
2:171468953:T:C	W302R	0.998
2:171480078:T:C	L436P	0.998
2:171480187:G:C	W472C	0.998
2:171480187:G:T	W472C	0.998
2:171435096:T:C	F47S	0.997
2:171468998:T:C	F317L	0.997
2:171469000:C:A	F317L	0.997
2:171469000:C:G	F317L	0.997
2:171473875:G:T	G331W	0.997
2:171473948:T:A	I355K	0.997
2:171473953:C:G	H357D	0.997
2:171473959:G:C	G359R	0.997
2:171473972:T:A	V363D	0.997
2:171478018:G:A	G405E	0.997
2:171478021:G:C	R406P	0.997
2:171480126:T:C	L452P	0.997
2:171473876:G:A	G331E	0.996
2:171473924:T:C	F347S	0.996
2:171473926:C:G	H348D	0.996
2:171473948:T:G	I355R	0.996
2:171473960:G:A	G359D	0.996
2:171478018:G:T	G405V	0.996
2:171480042:T:C	F424S	0.996
2:171480089:G:C	A440P	0.996
2:171480186:G:C	W472S	0.996

dbSNP variants (sampled 300 via entrez): RS1000029612 (2:171462308 A>G), RS1000169518 (2:171437815 A>G), RS1000199277 (2:171447355 ACTTT>A,ACTTTCTTT), RS1000224960 (2:171463603 T>C), RS1000228952 (2:171451062 G>A), RS1000271835 (2:171444292 C>G,T), RS1000304531 (2:171444512 G>A), RS1000522285 (2:171467654 C>G), RS1000577970 (2:171434127 G>A), RS1000606567 (2:171438126 T>G), RS1000628753 (2:171434303 C>G,T), RS1000645378 (2:171432646 G>A), RS1000731829 (2:171480842 C>A,T), RS1000868970 (2:171450230 G>T), RS1000907472 (2:171454653 T>A,C)

Disease associations

OMIM: gene MIM:612515 | disease phenotypes: MIM:241080, MIM:234200

GenCC curated gene-disease

Disease	Classification	Inheritance
Woodhouse-Sakati syndrome	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Woodhouse-Sakati syndrome	Definitive	AR

Mondo (3): Woodhouse-Sakati syndrome (MONDO:0009419), 2q24 microdeletion syndrome (MONDO:0015566), neurodegeneration with brain iron accumulation (MONDO:0018307)

Orphanet (3): Woodhouse-Sakati syndrome (Orphanet:3464), Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion (Orphanet:1617), Neurodegeneration with brain iron accumulation (Orphanet:385)

HPO phenotypes

41 total (30 of 41 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000013	Hypoplasia of the uterus
HP:0000027	Azoospermia
HP:0000044	Hypogonadotropic hypogonadism
HP:0000054	Micropenis
HP:0000135	Hypogonadism
HP:0000325	Triangular face
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000411	Protruding ear
HP:0000426	Prominent nasal bridge
HP:0000643	Blepharospasm
HP:0000674	Anodontia
HP:0000709	Psychosis
HP:0000738	Hallucinations
HP:0000786	Primary amenorrhea
HP:0000789	Infertility
HP:0000815	Hypergonadotropic hypogonadism
HP:0000819	Diabetes mellitus
HP:0000821	Hypothyroidism
HP:0000823	Delayed puberty
HP:0001249	Intellectual disability
HP:0001260	Dysarthria
HP:0001266	Choreoathetosis
HP:0001332	Dystonia
HP:0001336	Myoclonus
HP:0001344	Absent speech
HP:0001596	Alopecia
HP:0002071	Abnormality of extrapyramidal motor function
HP:0002213	Fine hair

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
C538316	Chromosome 2, monosomy 2q24 (supp.)
C538421	Neurodegeneration with brain iron accumulation (NBIA) (supp.)
C536742	Woodhouse Sakati syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	3
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
cylindrospermopsin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Vorinostat	increases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Doxorubicin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Silicon Dioxide	decreases expression	1
Testosterone	decreases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05522374	Not specified	RECRUITING	TIRCON International NBIA Registry
NCT02587858	Not specified	UNKNOWN	NBIAready: Online Collection of Natural History Patient-reported Outcome Measures
NCT05615571	Not specified	COMPLETED	Testing of NBIA Genes: Analysis of Genetic Heterogeneity and Validation of Mitochondrial Markers for Assessing Causality of Sequence Variants.
NCT05696912	Not specified	UNKNOWN	Functional Tests to Resolve Unsolved Rare Diseases. Rares.
NCT06596746	Not specified	RECRUITING	Neurodegenerative Diseases Progression Markers (MARKERS-NDD)