Disease browser and phenotype portal

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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: Craniofacial Abnormalities (D019465)
Parent Node: Hearing Loss, Sensorineural (D006319)
..Starting node ..Craniofacial deafness hand syndrome (C536453)
Child Nodes:
Sister Nodes:
..Acrootoocular Syndrome (C564866)
..Albinism ocular late onset sensorineural deafness (C537043)
..Arthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..Ataxia, Deafness, and Cardiomyopathy (C565932)
..Athabaskan brainstem dysgenesis (C535397)
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Auditory Neuropathy, Nonsyndromic Recessive (C563398)
..Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..BADS Syndrome (C562663)
..Barakat syndrome (C537907)
..Bartter Syndrome, Type 4A (C566530)
..Bartter Syndrome, Type 4b (C567762)
..Bjornstad syndrome (C537633)
..Boudhina Yedes Khiari syndrome (C537939)
..Brachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
..Brown-Vialetto-Van Laere syndrome (C537111)
..CAPOS syndrome (C535351)
..Cardiomyopathy, Dilated, 1J (C565337)
..Cataract ataxia deafness (C538283)
..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
..Cerebellar Ataxia and Hypergonadotropic Hypogonadism (C565308)
..Cerebellar Ataxia and Neurosensory Deafness (C565869)
..Cerebellar Ataxia, Deafness, and Narcolepsy (C565825)
..Charcot-Marie-Tooth disease and deafness (C538078)
..Charcot-Marie-Tooth disease, Type 2J (C535417)
..Chitty Hall Baraitser syndrome (C535928)
..Chudley-Mccullough syndrome (C535459)
..Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
..Cochleosaccular degeneration of the inner ear and progressive cataracts (C536432)
..Coloboma, cleft lip/palate and mental retardation syndrome (C535971)
..Congenital ectodermal dysplasia with hearing loss (C535757)
..Corneal dystrophy and perceptive deafness (C535473)
..Cowchock syndrome (C536450)
..Craniofacial deafness hand syndrome (C536453)
..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..Deafness enamel hypoplasia nail defects (C535994)
..Deafness oligodontia syndrome (C538049)
..Deafness, Aminoglycoside-Induced (C564013)
..Deafness, Autosomal Dominant 1 (C565121)
..Deafness, Autosomal Dominant 10 (C563354)
..Deafness, Autosomal Dominant 11 (C563353)
..Deafness, Autosomal Dominant 12 (C563295)
..Deafness, Autosomal Dominant 13 (C566612)
..Deafness, Autosomal Dominant 15 (C566545)
..Deafness, Autosomal Dominant 16 (C565832)
..Deafness, Autosomal Dominant 18 (C565267)
..Deafness, Autosomal Dominant 20 (C565754)
..Deafness, Autosomal Dominant 21 (C564634)
..Deafness, Autosomal Dominant 23 (C565357)
..Deafness, Autosomal Dominant 24 (C565239)
..Deafness, Autosomal Dominant 25 (C565319)
..Deafness, Autosomal Dominant 28 (C563890)
..Deafness, Autosomal Dominant 2A (C567441)
..Deafness, Autosomal Dominant 2B (C567214)
..Deafness, Autosomal Dominant 30 (C564706)
..Deafness, Autosomal Dominant 31 (C563888)
..Deafness, Autosomal Dominant 36 (C564675)
..Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 (C565316)
..Deafness, Autosomal Dominant 3A (C567277)
..Deafness, Autosomal Dominant 3B (C567215)
..Deafness, Autosomal Dominant 4 (C563460)
..Deafness, Autosomal Dominant 41 (C564272)
..Deafness, Autosomal Dominant 43 (C564246)
..Deafness, Autosomal Dominant 44 (C564399)
..Deafness, Autosomal Dominant 47 (C563885)
..Deafness, Autosomal Dominant 48 (C564322)
..Deafness, Autosomal Dominant 49 (C564250)
..Deafness, Autosomal Dominant 5 (C563410)
..Deafness, Autosomal Dominant 52 (C564348)
..Deafness, Autosomal Dominant 53 (C566495)
..Deafness, Autosomal Dominant 59 (C567216)
..Deafness, Autosomal Dominant 6 (C563421)
..Deafness, Autosomal Dominant 7 (C563321)
..Deafness, Autosomal Dominant 9 (C563335)
..Deafness, autosomal dominant nonsyndromic sensorineural 17 (C538050)
..Deafness, autosomal dominant nonsyndromic sensorineural 22 (C538197)
..Deafness, autosomal dominant nonsyndromic sensorineural 23 (C538198)
..Deafness, autosomal dominant nonsyndromic sensorineural 24 (C538199)
..Deafness, Autosomal Recessive (C564609)
..Deafness, Autosomal Recessive 10 (C565341) 1
..Deafness, Autosomal Recessive 12 (C563327)
..Deafness, Autosomal Recessive 13 (C566410)
..Deafness, Autosomal Recessive 14 (C566344)
..Deafness, Autosomal Recessive 15 (C566611)
..Deafness, Autosomal Recessive 16 (C566339)
..Deafness, Autosomal Recessive 17 (C566418)
..Deafness, Autosomal Recessive 18 (C566580) 1
..Deafness, Autosomal Recessive 1A (C567134)
..Deafness, Autosomal Recessive 1b (C567213)
..Deafness, Autosomal Recessive 2 (C564007)
..Deafness, Autosomal Recessive 20 (C565828)
..Deafness, Autosomal Recessive 21 (C566353)
..Deafness, Autosomal Recessive 22 (C564633)
..Deafness, Autosomal Recessive 23 (C563705)
..Deafness, Autosomal Recessive 26 (C565329)
..Deafness, Autosomal Recessive 27 (C565287)
..Deafness, Autosomal Recessive 28 (C565218)
..Deafness, Autosomal Recessive 3 (C563961)
..Deafness, Autosomal Recessive 30 (C564624)
..Deafness, Autosomal Recessive 31 (C564629)
..Deafness, Autosomal Recessive 32 (C563884)
..Deafness, Autosomal Recessive 33 (C564602)
..Deafness, Autosomal Recessive 35 (C563908)
..Deafness, Autosomal Recessive 36 (C563815)
..Deafness, Autosomal Recessive 37 (C564331)
..Deafness, Autosomal Recessive 38 (C564273)
..Deafness, Autosomal Recessive 39 (C564265)
..Deafness, Autosomal Recessive 40 (C564266)
..Deafness, Autosomal Recessive 42 (C566460)
..Deafness, Autosomal Recessive 44 (C565716)
..Deafness, Autosomal Recessive 46 (C566459)
..Deafness, Autosomal Recessive 47 (C566498)
..Deafness, Autosomal Recessive 48 (C563720)
..Deafness, Autosomal Recessive 49 (C565717)
..Deafness, Autosomal Recessive 5 (C563444)
..Deafness, Autosomal Recessive 53 (C566453)
..Deafness, Autosomal Recessive 59 (C565698)
..Deafness, Autosomal Recessive 6 (C563418)
..Deafness, Autosomal Recessive 62 (C565719)
..Deafness, Autosomal Recessive 63 (C566951)
..Deafness, Autosomal Recessive 65 (C565211)
..Deafness, Autosomal Recessive 66 (C565701)
..Deafness, Autosomal Recessive 67 (C565207)
..Deafness, Autosomal Recessive 68 (C563669)
..Deafness, Autosomal Recessive 7 (C563417)
..Deafness, Autosomal Recessive 71 (C567562)
..Deafness, Autosomal Recessive 77 (C567543)
..Deafness, Autosomal Recessive 79 (C567651)
..Deafness, Autosomal Recessive 9 (C563396)
..Deafness, Autosomal Recessive, 24 (C567027)
..Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 (C563395) 1
..Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..Deafness, Congenital, with Total Albinism (C565646)
..Deafness, High-Frequency Sensorineural, X-Linked (C564432)
..Deafness, Mid-Tone Neural (C565122)
..Deafness, Progressive High-Tone Neural (C562423)
..Deafness, Sensorineural, And Male Infertility (C567010)
..Deafness, Sensorineural, Autosomal-Mitochondrial Type (C565637)
..Deafness, Sensorineural, with Hypertrophic Cardiomyopathy (C565236)
..Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..Deafness, X-Linked 1 (C564433)
..Deafness, X-Linked 3 (C564727)
..Deafness, X-Linked 4 (C564723)
..Deafness, X-Linked 5 (C564472)
..Digitorenocerebral Syndrome (C563052)
..Donnai-Barrow syndrome (C536390)
..Ectodermal Dysplasia and Neurosensory Deafness (C565606)
..Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
..Enlarged Vestibular Aqueduct (C566366)
..Ermine phenotype (C535508)
..Fitzsimmons Walson Mellor syndrome (C537937)
..Flynn Aird syndrome (C537066)
..Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..Gemignani syndrome (C537678)
..Gonadal dysgenesis XX type deafness (C537286) 1
..Griscelli syndrome type 1 (C537301)
..Hearing Loss, Central (D006313) 16
..Hearing Loss, Noise-Induced (D006317)
..HID Syndrome (C566528)
..Histiocytosis with joint contractures and sensorineural deafness (C538322)
..Hittner Hirsch Kreh syndrome (C538323)
..Homozygous 11p15-p14 Deletion Syndrome (C564701)
..Insulin-Like Growth Factor I Deficiency (C563867)
..Johanson Blizzard syndrome (C535880)
..Keratoderma palmoplantar deafness (C536152)
..Knuckle pads, leuconychia and sensorineural deafness (C537210)
..Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
..Macrothrombocytopenia progressive deafness (C537831)
..Marshall syndrome (C536025)
..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
..MYH9-Related Disorders (C535507)
..Nephropathy deafness hyperparathyroidism (C536401)
..Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
..Nephropathy, Progressive, with Deafness (C563713)
..Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia (C566352)
..Nonsyndromic sensorineural hearing loss (C537845)
..Optic atrophy 1 and deafness (C537124)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Otodental Dysplasia (C563482)
..Otofacioosseous-Gonadal Syndrome (C566597)
..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OMIM:215150)
..Paragangliomas with Sensorineural Hearing Loss (C566831)
..Pendred syndrome (C536648)
..Pfeiffer Kapferer syndrome (C537887)
..Presbycusis (D011304) 2
..Progressive hearing loss stapes fixation (C536424)
..Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
..Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss (C566428)
..Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness (C562897)
..Retinitis Pigmentosa Inversa with Deafness (C564842)
..Robinson Miller Bensimon syndrome (C535864)
..Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..Schaap Taylor Baraitser syndrome (C536626)
..Sensorineural Deafness With Mild Renal Dysfunction (C567544)
..Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth (C566560)
..SeSAME syndrome (C557674)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Split-Hand/Foot Malformation With Sensorineural Hearing Loss (C565647)
..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..Stickler syndrome, type 1 (C537492)
..Thiamine responsive megaloblastic anemia syndrome (C536510)
..Townes-Brocks syndrome (C536974)
..Townes-Brocks-Branchiootorenal-Like Syndrome (C566272)
..Treft Sanborn Carey syndrome (C536544)
..Tunglang Savage Bellman syndrome (C536927)
..Usher Syndromes (D052245) 19
..Vohwinkel syndrome (C536457)
..Winkelman Bethge Pfeiffer syndrome (C536710)
..Wolfram Syndrome 2 (C565733)
..Wolfram Syndrome, Mitochondrial Form (C564012)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2817

Name:

Craniofacial deafness hand syndrome

Definition:

Alternative IDs:

OMIM:122880

ParentIDs:

MESH:D000015|MESH:D006319|MESH:D019465

TreeNumbers:

C05.660.207/C536453 |C09.218.458.341.887/C536453 |C10.597.751.418.341.887/C536453 |C16.131.077/C536453 |C16.131.621.207/C536453 |C23.888.592.763.393.341.887/C536453

Synonyms:

CDHS |Craniofacial-Deafness-Hand Syndrome

Slim Mappings:

Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C536453
MeSH: C536453
OMIM: 122880;

Genes: PAX3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0012368	Flat face
3	HP:0000316	Hypertelorism
4	HP:0000327	Hypoplasia of the maxilla
5	HP:0000272	Malar flattening
6	HP:0000407	Sensorineural hearing impairment
7	HP:0003196	Short nose
8	HP:0009487	Ulnar deviation of the hand
9	HP:0001193	Ulnar deviation of the hand or of fingers of the hand

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_181457.3(PAX3):c.141C>G (p.Asn47Lys)	5077	PAX3	Pathogenic	104893652	RCV000004434;	N	MedGen:C1852510,OMIM:122880,ORPHA:1529	2	223161877	223161877	NM_181457.3:c.141C>G	NP_852122.1:p.Asn47Lys	NC_000002.11:g.223161877G>C	OMIM Allelic Variant:606597.0010	C1852510 122880 Craniofacial deafness hand syndrome