PedAM

Pediatric Disease Annotations & Medicines


	wolf-hirschhorn syndrome

Disease ID	479
Disease	wolf-hirschhorn syndrome
Definition	A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as "Greek helmet face" - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS.
Synonym	4p deletion syndrome 4p minus syndrome 4p partial monosomy syndrome 4p partial monosomy syndrome (disorder) 4p syndrome 4p syndrome, chromosome 4p syndromes, chromosome 4p- syndrome chromosome 4 short arm deletion syndrome chromosome 4p deletion syndrome chromosome 4p monosomy chromosome 4p syndrome chromosome 4p syndromes chromosome 4p16.3 deletion syndrome del(4p) syndrome deletion 4p syndrome deletion of short arm of chromosome 4 midline fusion defect syndrome monosomy 4p partial monosomy 4p syndrome wolfs syndrome, chromosome 4p syndrome, wolf syndrome, wolf-hirchhorn syndrome, wolf-hirschhorn syndromes wolf syndromes, chromosome 4p whs - wolf-hirschhorn syndrome whs - wolff-hirschorn syndrome wolf hirchhorn syndrome wolf hirschhorn syndrome wolf hirschhorn syndrome (disorder) wolf syndrome wolf-hirchhorn syndrome wolf-hirschhorn syndrome [disease/finding] wolff-hirschhorn syndrome wolff-hirschorn syndrome
Orphanet	ORPHANET:280
OMIM	OMIM:194190
DOID	DOID:0050460
ICD10	ICD10CM:Q93.3
UMLS	C1956097
MeSH	D054877
SNOMED-CT	SNOMEDCT_US_2016_09_01:17122004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0008049 \| varicella \| 1 C0014544 \| epilepsy \| 1 C0206669 \| hepatic adenoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) LETM1 \| 3954 \| CTD_human;ORPHANET;GHR NELFA \| 7469 \| ORPHANET MSX1 \| 4487 \| CTD_human;GHR NSD2 \| 7468 \| ORPHANET WHCR \| 7467 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:92) 57167 \| SALL4 \| DISEASES 55916 \| NXT2 \| DISEASES 6827 \| SUPT4H1 \| DISEASES 51056 \| LAP3 \| DISEASES 7466 \| WFS1 \| DISEASES 566 \| AZU1 \| DISEASES 7700 \| ZNF141 \| DISEASES 8195 \| MKKS \| DISEASES 6299 \| SALL1 \| DISEASES 23314 \| SATB2 \| DISEASES 1182 \| CLCN3 \| DISEASES 25875 \| LETMD1 \| DISEASES 10133 \| OPTN \| DISEASES 4924 \| NUCB1 \| DISEASES 4036 \| LRP2 \| DISEASES 53834 \| FGFRL1 \| DISEASES 118 \| ADD1 \| DISEASES 10923 \| SUB1 \| DISEASES 6722 \| SRF \| DISEASES 52 \| ACP1 \| DISEASES 5860 \| QDPR \| DISEASES 5018 \| OXA1L \| DISEASES 26060 \| APPL1 \| DISEASES 8365 \| HIST1H4H \| DISEASES 1487 \| CTBP1 \| DISEASES 7109 \| TRAPPC10 \| DISEASES 886 \| CCKAR \| DISEASES 9317 \| PTER \| DISEASES 10815 \| CPLX1 \| DISEASES 3954 \| LETM1 \| DISEASES 1816 \| DRD5 \| DISEASES 2752 \| GLUL \| DISEASES 92745 \| SLC38A5 \| DISEASES 8602 \| NOP14 \| DISEASES 79155 \| TNIP2 \| DISEASES 6867 \| TACC1 \| DISEASES 7586 \| ZKSCAN1 \| DISEASES 10460 \| TACC3 \| DISEASES 1482 \| NKX2-5 \| DISEASES 10227 \| MFSD10 \| DISEASES 677 \| ZFP36L1 \| DISEASES 2261 \| FGFR3 \| DISEASES 8360 \| HIST1H4D \| DISEASES 3516 \| RBPJ \| DISEASES 6890 \| TAP1 \| DISEASES 8294 \| HIST1H4I \| DISEASES 8363 \| HIST1H4J \| DISEASES 26503 \| SLC17A5 \| DISEASES 8368 \| HIST1H4L \| DISEASES 8362 \| HIST1H4K \| DISEASES 121504 \| HIST4H4 \| DISEASES 617 \| BCS1L \| DISEASES 8359 \| HIST1H4A \| DISEASES 8367 \| HIST1H4E \| DISEASES 10367 \| MICU1 \| DISEASES 4519 \| MT-CYB \| DISEASES 4508 \| MT-ATP6 \| DISEASES 554313 \| HIST2H4B \| DISEASES 8370 \| HIST2H4A \| DISEASES 90550 \| MCU \| DISEASES 2159 \| F10 \| DISEASES 8366 \| HIST1H4B \| DISEASES 8361 \| HIST1H4F \| DISEASES 8364 \| HIST1H4C \| DISEASES 6303 \| SAT1 \| DISEASES 9946 \| CRYZL1 \| DISEASES 5991 \| RFX3 \| DISEASES 7158 \| TP53BP1 \| DISEASES 55203 \| LGI2 \| DISEASES 64979 \| MRPL36 \| DISEASES 4487 \| MSX1 \| DISEASES 8603 \| FAM193A \| DISEASES 6736 \| SRY \| DISEASES 7337 \| UBE3A \| DISEASES 2868 \| GRK4 \| DISEASES 57680 \| CHD8 \| DISEASES 63027 \| SLC22A23 \| DISEASES 29072 \| SETD2 \| DISEASES 401115 \| C4orf48 \| DISEASES 10989 \| IMMT \| DISEASES 1029 \| CDKN2A \| DISEASES 64324 \| NSD1 \| DISEASES 6324 \| SCN1B \| DISEASES 9228 \| DLGAP2 \| DISEASES 2081 \| ERN1 \| DISEASES 6829 \| SUPT5H \| DISEASES 34 \| ACADM \| DISEASES 57620 \| STIM2 \| DISEASES 7884 \| SLBP \| DISEASES 4043 \| LRPAP1 \| DISEASES 6452 \| SH3BP2 \| DISEASES 137994 \| LETM2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	479
Disease	wolf-hirschhorn syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:89) HP:0003363 \| Abdominal situs inversus HP:0009778 \| Short thumb HP:0000286 \| Epicanthus HP:0001251 \| Ataxia HP:0000347 \| Micrognathia HP:0001249 \| Mental retardation HP:0001762 \| Talipes equinovarus HP:0001654 \| Abnormality of the heart valves HP:0007385 \| Aplasia cutis congenita of scalp HP:0000939 \| Osteoporosis HP:0001177 \| Preaxial hand polydactyly HP:0000159 \| Abnormality of the lip HP:0000322 \| Short philtrum HP:0000647 \| Sclerocornea HP:0002205 \| Recurrent respiratory infections HP:0000639 \| Nystagmus HP:0001760 \| Abnormality of the foot HP:0001028 \| Hemangioma HP:0002650 \| Scoliosis HP:0005264 \| Abnormality of the gallbladder HP:0000204 \| Cleft upper lip HP:0000252 \| Microcephaly HP:0003468 \| Abnormality of the vertebrae HP:0001274 \| Agenesis of corpus callosum HP:0006709 \| Aplasia/Hypoplasia of the nipples HP:0003312 \| Abnormal form of the vertebral bodies HP:0000288 \| Abnormality of the philtrum HP:0001263 \| Global developmental delay HP:0000078 \| Abnormality of the genital system HP:0001252 \| Hypotonia HP:0000047 \| Hypospadias HP:0000485 \| Megalocornea HP:0000612 \| Iris coloboma HP:0000431 \| Wide nasal bridge HP:0001518 \| Small for gestational age HP:0000668 \| Hypodontia HP:0000028 \| Cryptorchidism HP:0000776 \| Congenital diaphragmatic hernia HP:0000765 \| Abnormality of the thorax HP:0100790 \| Hernia HP:0000494 \| Downslanted palpebral fissures HP:0001671 \| Abnormality of the cardiac septa HP:0006703 \| Aplasia/Hypoplasia of the lungs HP:0000960 \| Sacral dimple HP:0000389 \| Chronic otitis media HP:0010864 \| Intellectual disability, severe HP:0008830 \| Hypoplastic pubic rami HP:0000079 \| Abnormality of the urinary system HP:0002144 \| Tethered cord HP:0008551 \| Microtia HP:0000486 \| Strabismus HP:0000508 \| Ptosis HP:0000365 \| Hearing impairment HP:0001252 \| Muscular hypotonia HP:0007360 \| Aplasia/Hypoplasia of the cerebellum HP:0000925 \| Abnormality of the vertebral column HP:0000348 \| High forehead HP:0001519 \| Disproportionate tall stature HP:0002714 \| Downturned corners of mouth HP:0001511 \| Intrauterine growth retardation HP:0000268 \| Dolichocephaly HP:0001558 \| Decreased fetal movement HP:0100022 \| Abnormality of movement HP:0000648 \| Optic atrophy HP:0002750 \| Delayed skeletal maturation HP:0000902 \| Rib fusion HP:0000175 \| Cleft palate HP:0001508 \| Failure to thrive HP:0002808 \| Kyphosis HP:0000077 \| Abnormality of the kidney HP:0009890 \| High anterior hairline HP:0001171 \| Split hand HP:0000488 \| Retinopathy HP:0006655 \| Rib segmentation abnormalities HP:0000520 \| Proptosis HP:0001631 \| Atrial septal defect HP:0001250 \| Seizures HP:0002715 \| Abnormality of the immune system HP:0000252 \| Small head circumference HP:0001166 \| Arachnodactyly HP:0001362 \| Skull defect HP:0002162 \| Low posterior hairline HP:0002007 \| Frontal bossing HP:0000316 \| Hypertelorism HP:0002564 \| Malformation of the heart and great vessels HP:0000153 \| Abnormality of the mouth HP:0000368 \| Low-set, posteriorly rotated ears HP:0010109 \| Short hallux HP:0002553 \| Highly arched eyebrow
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0001250 \| Seizures \| 2 HP:0001252 \| Hypotonia \| 1 HP:0012028 \| Hepatocellular adenoma \| 1 HP:0001999 \| Facial dysmorphism \| 1 HP:0000202 \| Oral clefting \| 1 HP:0002664 \| Neoplasia \| 1

Disease ID	479
Disease	wolf-hirschhorn syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0036572 \| seizures \| 2 C0014544 \| epilepsy \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs14647	20935158	7468	WHSC1	umls:C1956097	BeFree	We found SNP rs14647 in the Wolf-Hirschhorn syndrome candidate gene1 (WHSC1) 3'UTR (untranslated region) was associated with endometriosis-related infertility presenting an odds ratio of 12.2 (95% confidence interval = 2.4-60.7, P = 9.03 × 10(-5)).	0.322985861	2011	WHSC1	4	1982108	G	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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