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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Chromosome Disorders (D025063)
..Starting node ..Wolf-Hirschhorn Syndrome (D054877)
Child Nodes:
Sister Nodes:
..10p Deletion Syndrome (Partial) (C538288)
..13q deletion syndrome (C535484) 1
..15q24 Microdeletion (C579849)
..16p11.2 Deletion Syndrome (C579850)
..22q11 Deletion Syndrome (D058165) 5
..6q+ Syndrome, Partial (C537810)
..7p2 monosomy syndrome (C537818)
..9q22.3 Microdeletion (C579873)
..Angelman Syndrome (D017204) 1
..Beckwith-Wiedemann Syndrome (D001506) 1
..Branchio-Oto-Renal Syndrome (D019280) 5
..Chromosome 10q duplication syndrome (C537804)
..Chromosome 13q-mosaicism (C535486)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Chromosome 17p13.3 Duplication Syndrome (C567705)
..Chromosome 18 deletion syndrome (C536580)
..Chromosome 18p deletion syndrome (C538309)
..Chromosome 19q13.11 Deletion Syndrome (C567810)
..Chromosome 1p36 Deletion Syndrome (C535362)
..Chromosome 22, monosome mosaic (C536798)
..Chromosome 3 duplication syndrome (C536803)
..Chromosome 3q29 Duplication Syndrome (C567626)
..Chromosome 4, 4q Terminal Deletion Syndrome (C537641)
..Chromosome 4q- Syndrome (C537639)
..Chromosome 5p13 Duplication Syndrome (C567717)
..Chromosome 6 ring syndrome (C537763)
..Chromosome 7 ring syndrome (C537813)
..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..Contiguous Abcd1/Dxs1375e Deletion Syndrome (C564508)
..Cri-du-Chat Syndrome (D003410) 6
..De Lange Syndrome (D003635) 1
..Delayed Cranial Ossification due to CBFB Haploinsufficiency (C565160)
..Deletion 13q syndrome, partial (C535449)
..Distal Trisomy 10q Syndrome (C538087)
..Down Syndrome (D004314) 6
..Duplication 4p Syndrome (C537643)
..Edinburgh Malformation Syndrome (C563051)
..Emanuel syndrome (C535733)
..Fragile Site 16p12 (C565001)
..Holoprosencephaly (D016142) 22
..Isodicentric Chromosome 15 Syndrome (C580205)
..Jacobsen Distal 11q Deletion Syndrome (D054868) 1
..Mental Retardation, Fra12a Type (C566980)
..Monosomy 7 of Bone Marrow (C565370)
..Mosaic variegated aneuploidy syndrome (C536987)
..NF1 Microduplication Syndrome (C567173)
..Otodental Dysplasia (C563482)
..Pallister Killian syndrome (C538105)
..Partial Duplication 15q Syndrome (C538036)
..Partial Trisomy 3q Syndrome (C537635)
..Patau syndrome (C536305)
..Potocki-Shaffer syndrome (C538356)
..Prader-Willi Syndrome (D011218) 2
..Recombinant chromosome 8 syndrome (C535296)
..Ring chromosome 4 syndrome (C537636)
..Rubinstein-Taybi Syndrome (D012415) 2
..Schmid-Fraccaro syndrome (C535918)
..Sex Chromosome Disorders (D025064) 32
..Silver-Russell Syndrome (D056730) 1
..Smith-Magenis Syndrome (D058496) 1
..Sotos Syndrome (D058495) 1
..Telomeric 22q13 Monosomy Syndrome (C536801)
..Thrombocytopenia chromosome breakage (C536519)
..Trisomy 18-Like Syndrome (C563382)
..Trisomy 22 mosaicism syndrome (C536796)
..WAGR Syndrome (D017624) 2
..Warburton Anyane Yeboa syndrome (C536682)
..Williams Syndrome (D018980) 1
..Wolf-Hirschhorn Syndrome (D054877)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11777

Name:

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.

Alternative IDs:

OMIM:194190

ParentIDs:

MESH:D000015|MESH:D025063

TreeNumbers:

C16.131.077.944 |C16.131.260.985 |C16.320.180.985

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)

Reference:

MedGen: D054877
MeSH: D054877
OMIM: 194190;

Genes: AF8T;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003312	Abnormal form of the vertebral bodies	HP:0040282
3	HP:0011863	Abnormal sternal ossification
4	HP:0000377	Abnormality of the pinna	HP:0040282
5	HP:0001331	Absent septum pellucidum
6	HP:0001747	Accessory spleen
7	HP:0001274	Agenesis of corpus callosum	HP:0040283
8	HP:0007385	Aplasia cutis congenita of scalp	HP:0040283
9	HP:0000151	Aplasia of the uterus	HP:0040283
10	HP:0001631	Atrial septal defect	HP:0040284
11	HP:0001080	Biliary tract abnormality	HP:0040283
12	HP:0002389	Cavum septum pellucidum
13	HP:0000175	Cleft palate
14	HP:0000204	Cleft upper lip
15	HP:0000405	Conductive hearing impairment	HP:0040284
16	HP:0000444	Convex nasal ridge	HP:0040282
17	HP:0004484	Craniofacial asymmetry	HP:0040282
18	HP:0000028	Cryptorchidism	HP:0040284
19	HP:0001558	Decreased fetal movement
20	HP:0003199	Decreased muscle mass	HP:0040281
21	HP:0002750	Delayed skeletal maturation
22	HP:0002714	Downturned corners of mouth	HP:0040282
23	HP:0009918	Ectopia pupillae
24	HP:0002353	EEG abnormality	HP:0040284
25	HP:0000286	Epicanthus	HP:0040282
26	HP:0001508	Failure to thrive	HP:0040282
27	HP:0002020	Gastroesophageal reflux
28	HP:0001290	Generalized hypotonia	HP:0040281
29	HP:0001263	Global developmental delay	HP:0040281
30	HP:0001028	Hemangioma	HP:0040282
31	HP:0000348	High forehead	HP:0040282
32	HP:0002553	Highly arched eyebrow	HP:0040282
33	HP:0002827	Hip dislocation
34	HP:0001385	Hip dysplasia	HP:0040283
35	HP:0000238	Hydrocephalus	HP:0040283
36	HP:0001812	Hyperconvex fingernails
37	HP:0000316	Hypertelorism	HP:0040282
38	HP:0000668	Hypodontia	HP:0040282
39	HP:0000047	Hypospadias	HP:0040284
40	HP:0002721	Immunodeficiency	HP:0040284
41	HP:0010864	Intellectual disability, severe
42	HP:0001511	Intrauterine growth retardation	HP:0040281
43	HP:0000612	Iris coloboma	HP:0040284
44	HP:0002808	Kyphosis	HP:0040282
45	HP:0002162	Low posterior hairline
46	HP:0004794	Malrotation of small bowel
47	HP:0001840	Metatarsus adductus
48	HP:0000252	Microcephaly	HP:0040282
49	HP:0000347	Micrognathia	HP:0040282
50	HP:0000639	Nystagmus	HP:0040282
51	HP:0007109	Periventricular cysts
52	HP:0004467	Preauricular pit	HP:0040282
53	HP:0000384	Preauricular skin tag	HP:0040282
54	HP:0001841	Preaxial foot polydactyly	HP:0040283
55	HP:0001177	Preaxial hand polydactyly	HP:0040283
56	HP:0000826	Precocious puberty
57	HP:0002057	Prominent glabella	HP:0040282
58	HP:0000520	Proptosis	HP:0040282
59	HP:0009193	Pseudoepiphyses of the metacarpals
60	HP:0000508	Ptosis	HP:0040282
61	HP:0002974	Radioulnar synostosis
62	HP:0000902	Rib fusion	HP:0040282
63	HP:0006655	Rib segmentation abnormalities	HP:0040282
64	HP:0000558	Rieger anomaly	HP:0040282
65	HP:0000960	Sacral dimple	HP:0040283
66	HP:0002650	Scoliosis	HP:0040282
67	HP:0001250	Seizure	HP:0040282
68	HP:0000407	Sensorineural hearing impairment	HP:0040284
69	HP:0008850	Severe postnatal growth retardation	HP:0040282
70	HP:0010109	Short hallux	HP:0040283
71	HP:0000322	Short philtrum	HP:0040282
72	HP:0004322	Short stature	HP:0040282
73	HP:0009778	Short thumb	HP:0040283
74	HP:0000188	Short upper lip	HP:0040282
75	HP:0000954	Single transverse palmar crease	HP:0040283
76	HP:0001518	Small for gestational age	HP:0040281
77	HP:0001171	Split hand	HP:0040283
78	HP:0003745	Sporadic
79	HP:0000402	Stenosis of the external auditory canal	HP:0040282
80	HP:0000733	Stereotypy	HP:0040282
81	HP:0000486	Strabismus	HP:0040282
82	HP:0001762	Talipes equinovarus	HP:0040282
83	HP:0002144	Tethered cord	HP:0040283
84	HP:0001629	Ventricular septal defect
85	HP:0002119	Ventriculomegaly
86	HP:0002948	Vertebral fusion
87	HP:0000465	Webbed neck	HP:0040283
88	HP:0000431	Wide nasal bridge	HP:0040282

Disease Causing ClinVar Variants