Wolf-hirschhorn Syndrome malady

NIH Rare Diseases: Wolf-Hirschhorn syndrome is a genetic condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions. Most cases of this disorder are not inherited, although sometimes Wolf-Hirschhorn syndrome is inherited from an unaffected parent.³⁰

MalaCards: Wolf-hirschhorn Syndrome, also known as pitt-rogers-danks syndrome, is related to cri-du-chat syndrome and sotos syndrome. An important gene associated with Wolf-hirschhorn Syndrome is WHSC2 (Wolf-Hirschhorn syndrome candidate 2), and among its related pathways is Lysine degradation. The compounds s-adenosylhomocysteine and L-Lysine have been mentioned in the context of this disorder.

Genetics Home Reference: Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.¹⁷

GeneReviews summary for whs

Aliases & Descriptions:

wolf-hirschhorn syndrome 6 7 15 30 16 17 8 33 43 pitt-rogers-danks syndrome 6 30 43 pitt rogers danks syndrome 30 16 4p deletion syndrome 6 17 pitt syndrome 6 30 wolf syndrome 30 16 4p- syndrome 15 17 4p syndrome 30 16 monosomy 4p 15 17 whs 30 17 microcephaly, iugr, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation 30 mental retardation, unusual facies, and intrauterine growth retardation 30

chromosome 4p16.3 deletion syndrome 6 chromosome 4 short arm deletion 43 chromosome 4p deletion syndrome 17 chromosome 4p monosomy 17 chromosome 4p syndrome 30 partial monosomy 4p 17 chromosome deletion 43 distal deletion 4p 30 del(4p) syndrome 17 4p monosomy 16 partialism 43 prds 30

Diseases related to wolf-hirschhorn syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 783)

id	Related Disease	Score	Top Affiliating Genes
1	cri-du-chat syndrome	31.8	NXT2, PTER, MCM8
2	sotos syndrome	25.1	WHSC1L1, NSD1, ZFP36L1, ZKSCAN1, ZNF23
3	synostosis	12.5	FGFRL1, FGFR3, MSX1
4	hypodontia	11.9	MSX1, FGFR3, NSD1
5	microcephaly	11.7	FGFR3, MCM8, PTER, NSD1, WHSC1, WHSC2
6	1p36 deletion syndrome	9.5
7	lipodystrophy	9.4
8	chromosome 4p deletion	9.1
9	familial partial lipodystrophy	8.8
10	16p11.2 deletion syndrome	8.8
11	overgrowth syndrome	8.7
12	chromosome 1p36 deletion syndrome	8.5
13	androgen insensitivity syndrome	7.9
14	chromosome 16p13.3 deletion syndrome	7.9
15	chromosome 18p deletion syndrome	7.9
16	wagr syndrome	7.9
17	hepatitis	7.8
18	seizures	7.8
19	multiple myeloma	7.7
20	myeloma	7.7
21	oligodontia	7.7
22	opitz g/bbb syndrome	7.7
23	insulin resistance	7.7
24	neuronitis	7.6
25	infertility	7.6
26	autosomal dominant partial epilepsy with auditory features	7.4
27	18p deletion syndrome	7.2
28	chromosome 3p deletion	7.2
29	chromosome 6pter-p24 deletion syndrome	7.2
30	chromosome 2p16.1-p15 deletion syndrome	7.2
31	potocki-shaffer syndrome	7.2
32	fibrosis	7.2
33	acute myeloid leukemia	7.1
34	breast cancer	7.1
35	cystic fibrosis	7.1
36	muscular dystrophy	6.8
37	pancreatitis	6.8
38	androgen insensitivity syndrome, partial	6.7
39	immunodeficiency	6.7
40	chromosome 6p deletion	6.7
41	chromosome 7p deletion	6.7
42	chromosome 8p deletion	6.7
43	chromosome 10p deletion	6.7
44	chromosome 11p deletion	6.7
45	chromosome 17p deletion	6.7
46	chromosome 19p deletion	6.7
47	chromosome 1p deletion	6.7
48	chromosome 20p deletion	6.7
49	chromosome 2p deletion	6.7
50	norrie disease	6.7

Approved drugs:

Drug clinical trials:

Genetic tests related to wolf-hirschhorn syndrome:

id	Genetic test	Affiliating Genes
1	Wolf-hirschhorn Syndrome clinical/research

Articles related to wolf-hirschhorn syndrome:

(show all 19)

id	Title	Authors	Year	Affiliating Genes
1	Wolf-Hirschhorn syndrome candidate 1 is involved in t he cellular response to DNA damage. (21788515)	Hajdu I.... Elledge S.J.	2011	WHSC1
2	C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development. (21287218)	Endele S.... Winterpacht A.	2011	C4orf48
3	A histone H3 lysine 36 trimethyltransferase links Nkx 2-5 to Wolf-Hirschhorn syndrome. (19483677)	Nimura K.... Kaneda Y.	2009	SALL4
4	Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions. (18830230)	Engbers H.... Poot M.	2009	WHSC1
5	LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability. (17925330)	Dimmer K.S.... Scorrano L.	2008	LETM1
6	Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome. (18074389)	So J.... Schweiger S.	2008	MID2
7	Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. (17637805)	Flipsen-ten Berg K.... Poot M.	2007	WFS1
8	The etiology of Wolf-Hirschhorn syndrome. (15734578)	Bergemann A.D.... Hirschhorn K.	2005	WHSC1
9	LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. (14706454)	Schlickum S.... Endele S.U.	2004	LETM1
10	The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome. (15138253)	Nowikovsky K.... Schweyen R.J.	2004	LETM1
11	MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. (14630905)	Nieminen P.... Thesleff I.	2003	MSX1
12	Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. (12563561)	Zollino M.... Neri G.	2003	WHSC2
13	Genetic determination of Wolf-Hirschhorn syndrome (12715353)	Gutmajster E.... Rokicka A.	2002	WHSC1, WHSC2
14	First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. (11252005)	Rauch A.... Reis A.	2001	WHSC1
15	LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients. (10486213)	Endele S.... Winterpacht A.	1999	LETM1
16	WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. (9618163)	Stec I.... den Dunnen J.T.	1998	WHSC1
17	Otologic manifestations of Wolf-Hirschhorn syndrome. (9485112)	Lesperance M.M.... Rosenbaum K.N.	1998	WFS1
18	A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. (9063753)	Wright T.J.... Altherr M.R.	1997	WHSC1, WHSC2
19	The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome. (1969845)	Ivens A.... Robert B.	1990	MSX1

Genes related to wolf-hirschhorn syndrome according to GeneCards:

(show all 35)

id	Symbol	Description	Score	GeneCards Section Context
1	WHSC2	Wolf-Hirschhorn syndrome candidate 2	11.1	Publications, Transcripts, Disorders, Aliases & Descriptions (show all 8 sections) Functions, Orthologs, Summaries, UniProt Related
2	WHCR	Wolf-Hirschhorn syndrome chromosome region	11.1	Disorders, Summaries, Aliases & Descriptions
3	WHSC1	Wolf-Hirschhorn syndrome candidate 1	11.1	Summaries, Orthologs, Functions, Aliases & Descriptions (show all 7 sections) Disorders, Transcripts, Publications
4	WHSC1L1	Wolf-Hirschhorn syndrome candidate 1-like 1	11.1	Transcripts, Disorders, Aliases & Descriptions, Summaries (show all 5 sections) Orthologs
5	WHSC1L2P	Wolf-Hirschhorn syndrome candidate 1-like 2, pseudogene	11.1	Aliases & Descriptions
6	LETM1	leucine zipper-EF-hand containing transmembrane protein 1	11.1	Publications, Orthologs, Summaries, Disorders
7	LOC100421446	Wolf-Hirschhorn syndrome candidate 1-like 1 pseudogene	11.1	Aliases & Descriptions
8	C4orf48	chromosome 4 open reading frame 48	11.0	Publications, Disorders
9	LETM2	leucine zipper-EF-hand containing transmembrane protein 2	11.0	Orthologs, Disorders
10	MFSD10	major facilitator superfamily domain containing 10	11.0	Disorders
11	MRPL36	mitochondrial ribosomal protein L36	11.0
12	NOP14	NOP14 nucleolar protein homolog (yeast)	11.0	Disorders
13	LETMD1	LETM1 domain containing 1	11.0	Disorders
14	MSX1	msh homeobox 1	11.0	Publications
15	NXT2	nuclear transport factor 2-like export factor 2	11.0
16	SUPT4H1	suppressor of Ty 4 homolog 1 (S. cerevisiae)	11.0	Disorders
17	SALL4	sal-like 4 (Drosophila)	11.0	Publications
18	FGFRL1	fibroblast growth factor receptor-like 1	11.0
19	TNIP2	TNFAIP3 interacting protein 2	11.0	Disorders
20	ZNF23	zinc finger protein 23	11.0	Disorders
21	ZNF141	zinc finger protein 141	11.0	Disorders
22	SUPT5H	suppressor of Ty 5 homolog (S. cerevisiae)	11.0	Disorders
23	ZKSCAN1	zinc finger with KRAB and SCAN domains 1	11.0	Disorders
24	ZFP36L1	zinc finger protein 36, C3H type-like 1	11.0	Disorders
25	WFS1	Wolfram syndrome 1 (wolframin)	11.0	Publications
26	SLBP	stem-loop binding protein	11.0	Disorders
27	PTER	phosphotriesterase related	11.0
28	MID2	midline 2	11.0	Publications
29	MCM8	minichromosome maintenance complex component 8	11.0	Disorders
30	FAM193A	family with sequence similarity 193, member A	11.0	Disorders
31	SLC22A23	solute carrier family 22, member 23	11.0	Disorders
32	NSD1	nuclear receptor binding SET domain protein 1	11.0
33	NCOA2	nuclear receptor coactivator 2	11.0	Disorders
34	FGFR3	fibroblast growth factor receptor 3	11.0
35	CDKN2A	cyclin-dependent kinase inhibitor 2A	11.0	Disorders

Pathways related to wolf-hirschhorn syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Lysine degradation20	9.7	NSD1, WHSC1, WHSC1L1

Compounds related to wolf-hirschhorn syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	s-adenosylhomocysteine32 18	10.7	NSD1, WHSC1, WHSC1L1
2	L-Lysine9 18 9	11.4	NSD1, WHSC1, WHSC1L1

Cellular components related to wolf-hirschhorn syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	DSIF complex	GO:032044	9.7	SUPT4H1, SUPT5H
2	chromosome	GO:005694	9.7	NSD1, WHSC1, WHSC1L1

Biological processes related to wolf-hirschhorn syndrome according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of DNA-dependent transcription, elongation	GO:032785	10.2	SUPT5H, SUPT4H1
2	positive regulation of DNA-dependent transcription, elongation	GO:032786	9.9	SUPT5H, SUPT4H1
3	positive regulation of viral transcription	GO:050434	9.9	SUPT4H1, SUPT5H, WHSC2
4	transcription elongation from RNA polymerase II promoter	GO:006368	9.9	SUPT4H1, SUPT5H, WHSC2
5	protein stabilization	GO:050821	9.4	MSX1, CDKN2A, TNIP2, WFS1
6	transcription from RNA polymerase II promoter	GO:006366	9.1	ZNF141, SUPT4H1, SUPT5H, SLBP, WHSC2
7	regulation of transcription, DNA-dependent	GO:006355	8.2	WHSC2, WHSC1L1, WHSC1, SUPT4H1, SALL4, ZFP36L1

Molecular functions related to wolf-hirschhorn syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	fibroblast growth factor-activated receptor activity	GO:005007	9.2	FGFR3, FGFRL1
2	zinc ion binding	GO:008270	7.7	WHSC1, NSD1, SUPT4H1, PTER, MID2, SALL4