Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

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

Disease Browser
Parent Node: Hypertrichosis (D006983)
Parent Node: Leber Congenital Amaurosis (D057130)
Parent Node: Retinitis Pigmentosa (D012174)
..Starting node ..Amaurosis hypertrichosis (C536604)
Child Nodes:
Sister Nodes:
..Aldred syndrome (C537046)
..Alstrom Syndrome (D056769)
..Amaurosis hypertrichosis (C536604)
..Bork Stender Schmidt syndrome (C536576)
..Chang Davidson Carlson syndrome (C538075)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..Cone Dystrophy 3 (C566579)
..Cone Dystrophy 4 (C567758)
..Cone Dystrophy, X-Linked, 1 (C564439)
..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
..Cone rod dystrophy amelogenesis imperfecta (C535976)
..Cone-Rod Dystrophy 1 (C563469)
..Cone-Rod Dystrophy 10 (C564597)
..Cone-Rod Dystrophy 11 (C563671)
..Cone-Rod Dystrophy 12 (C567206)
..Cone-Rod Dystrophy 13 (C567698)
..CONE-ROD DYSTROPHY 2 (OMIM:120970)
..Cone-Rod Dystrophy 3 (C565827)
..Cone-Rod Dystrophy 5 (C563415)
..Cone-Rod Dystrophy 7 (C566350)
..Cone-Rod Dystrophy 8 (C565322)
..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..Flynn Aird syndrome (C537066)
..Furukawa Takagi Nakao syndrome (C538193)
..Hardikar syndrome (C535632)
..Kearns-Sayre Syndrome (D007625) 1
..Leber Congenital Amaurosis 14 (C567636)
..Leber Congenital Amaurosis 3 (C565814)
..Light Fixation Seizure Syndrome (C566367)
..Mainzer-Saldino Disease (C535463)
..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Neuropathy ataxia and retinis pigmentosa (C537396)
..Newfoundland Rod-Cone Dystrophy (C564391)
..Oculotrichodysplasia (C564934)
..Oliver-McFarlane syndrome (C536554)
..Pallidal Degeneration, Progressive, with Retinitis Pigmentosa (C564910)
..Peripheral Cone Dystrophy (C563813)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Posterior column ataxia with retinitis pigmentosa (C536343)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Retinal cone dystrophy 2 (C538363)
..Retinal Cone Dystrophy 3A (C566483)
..Retinal Cone Dystrophy 3B (C563678)
..Retinal Cone Dystrophy 4 (C566470)
..Retinitis pigmentosa 1 (C538365)
..Retinitis Pigmentosa 10 (C566715)
..Retinitis Pigmentosa 11 (C563991)
..Retinitis Pigmentosa 12 (C563999)
..Retinitis Pigmentosa 13 (C564008)
..Retinitis Pigmentosa 14 (C563992)
..Retinitis Pigmentosa 17 (C563437)
..Retinitis Pigmentosa 18 (C563320)
..Retinitis Pigmentosa 19 (C566637)
..Retinitis Pigmentosa 2 (C567523)
..Retinitis Pigmentosa 20 (C566718)
..Retinitis Pigmentosa 25 (C566425)
..Retinitis Pigmentosa 26 (C564249)
..Retinitis Pigmentosa 27 (C563526)
..Retinitis Pigmentosa 29 (C567403)
..Retinitis Pigmentosa 3 (C564520)
..Retinitis Pigmentosa 30 (C564310)
..Retinitis Pigmentosa 31 (C563685)
..Retinitis Pigmentosa 32 (C563689)
..Retinitis Pigmentosa 33 (C563676)
..Retinitis Pigmentosa 34 (C564475)
..Retinitis Pigmentosa 35 (C565206)
..Retinitis Pigmentosa 36 (C566431)
..Retinitis Pigmentosa 37 (C567005)
..Retinitis Pigmentosa 4 (C566706)
..Retinitis Pigmentosa 41 (C567422)
..Retinitis Pigmentosa 42 (C567854)
..Retinitis Pigmentosa 46 (C567249)
..RETINITIS PIGMENTOSA 50 (OMIM:613194)
..RETINITIS PIGMENTOSA 51 (OMIM:613464)
..RETINITIS PIGMENTOSA 54 (OMIM:613428)
..RETINITIS PIGMENTOSA 55 (OMIM:613575)
..RETINITIS PIGMENTOSA 56 (OMIM:613581)
..RETINITIS PIGMENTOSA 57 (OMIM:613582)
..RETINITIS PIGMENTOSA 58 (OMIM:613617)
..Retinitis Pigmentosa 6 (C564065)
..Retinitis Pigmentosa 7 (C564284)
..Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
..Retinitis Pigmentosa 7, Digenic (C567263)
..Retinitis Pigmentosa 9 (C566716)
..Retinitis Pigmentosa Inversa with Deafness (C564842)
..Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium (C564000)
..Retinitis Pigmentosa, Concentric (C567712)
..Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..Retinitis Pigmentosa, Late-Adult Onset (C564840)
..Retinitis Pigmentosa, Late-Onset Dominant (C567369)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Retinitis Pigmentosa, Y-Linked (C564035)
..Retinopathy, Pericentral Pigmentary, Autosomal Recessive (C564838)
..Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..RHYNS syndrome (C537612)
..Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..Senior-Loken syndrome 4 (C537581)
..Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..Tapetoretinal Degeneration with Ataxia (C564788)
..Usher Syndromes (D052245) 19
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

524

Name:

Amaurosis hypertrichosis

Definition:

Alternative IDs:

OMIM:217080

ParentIDs:

MESH:D006983|MESH:D012174|MESH:D057130

TreeNumbers:

C11.270.516/C536604 |C11.270.684/C536604 |C11.768.364/C536604 |C11.768.585.658.500/C536604 |C16.320.290.684/C536604 |C17.800.329.875/C536604

Synonyms:

Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis |Cone-rod congenital amaurosis associated with congenital hypertrichosis |Cone-Rod Dystrophy And Amelogenesis Imperfecta |Congenital amaurosis cone-rod type with congenital hypertrichosis |Ja

Slim Mappings:

Eye disease|Genetic disease (inborn)|Skin disease

Reference:

MedGen: C536604
MeSH: C536604
OMIM: 217080;

Genes: CNNM4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000705	Amelogenesis imperfecta
3	HP:0000670	Carious teeth
4	HP:0000548	Cone/cone-rod dystrophy
5	HP:0007803	Monochromacy
6	HP:0000662	Nyctalopia
7	HP:0000639	Nystagmus
8	HP:0000543	Optic disc pallor
9	HP:0000613	Photophobia

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
NM_007194.3(CHEK2):c.254C>T (p.Pro85Leu)	11200	CHEK2	Benign;Likely benign;Pathogenic	17883862	RCV000196893; RCV000005942; RCV000120551; RCV000132520;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0029463,OMIM:259500,ORPHA:668,SNOMED CT:21708004; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29130456	29130456	NM_007194.3:c.254C>T	NP_009125.1:p.Pro85Leu	NC_000022.10:g.29130456G>A	OMIM Allelic Variant:604373.0005	C1857588 217080 Cone-rod dystrophy amelogenesis imperfecta; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C0029463 259500 Osteosarcoma
NM_007194.3(CHEK2):c.49G>T (p.Ala17Ser)	11200	CHEK2	Pathogenic	137853008	RCV000005943;	N	MedGen:C0029463,OMIM:259500,ORPHA:668,SNOMED CT:21708004	22	29130661	29130661	NM_007194.3:c.49G>T	NP_009125.1:p.Ala17Ser	NC_000022.10:g.29130661C>A	OMIM Allelic Variant:604373.0006	C1857588 217080 Cone-rod dystrophy amelogenesis imperfecta; C0029463 259500 Osteosarcoma
NM_020184.3(CNNM4):c.599C>A (p.Ser200Tyr)	26504	CNNM4	Pathogenic	79424354	RCV000002985;	N	MedGen:C1857588,OMIM:217080,ORPHA:1021	2	97427335	97427335	NM_020184.3:c.599C>A	NP_064569.3:p.Ser200Tyr	NC_000002.11:g.97427335C>A	OMIM Allelic Variant:607805.0005	C1857588 217080 Cone-rod dystrophy amelogenesis imperfecta
NM_020184.3(CNNM4):c.707G>A (p.Arg236Gln)	26504	CNNM4	Pathogenic	75267011	RCV000002982;	N	MedGen:C1857588,OMIM:217080,ORPHA:1021	2	97427443	97427443	NM_020184.3:c.707G>A	NP_064569.3:p.Arg236Gln	NC_000002.11:g.97427443G>A	OMIM Allelic Variant:607805.0002	C1857588 217080 Cone-rod dystrophy amelogenesis imperfecta
NM_020184.3(CNNM4):c.971T>C (p.Leu324Pro)	26504	CNNM4	Pathogenic	74552543	RCV000002983;	N	MedGen:C1857588,OMIM:217080,ORPHA:1021	2	97427707	97427707	NM_020184.3:c.971T>C	NP_064569.3:p.Leu324Pro	NC_000002.11:g.97427707T>C	OMIM Allelic Variant:607805.0003	C1857588 217080 Cone-rod dystrophy amelogenesis imperfecta
NM_020184.3(CNNM4):c.1690C>T (p.Gln564Ter)	26504	CNNM4	Pathogenic	80100937	RCV000002984;	N	MedGen:C1857588,OMIM:217080,ORPHA:1021	2	97464802	97464802	NM_020184.3:c.1690C>T	NP_064569.3:p.Gln564Ter	NC_000002.11:g.97464802C>T	OMIM Allelic Variant:607805.0004	C1857588 217080 Cone-rod dystrophy amelogenesis imperfecta
NM_020184.3(CNNM4):c.2149C>T (p.Gln717Ter)	26504	CNNM4	Pathogenic	75559353	RCV000002986;	N	MedGen:C1857588,OMIM:217080,ORPHA:1021	2	97475075	97475075	NM_020184.3:c.2149C>T	NP_064569.3:p.Gln717Ter	NC_000002.11:g.97475075C>T	OMIM Allelic Variant:607805.0006	C1857588 217080 Cone-rod dystrophy amelogenesis imperfecta
NM_000546.5(TP53):c.722C>T (p.Ser241Phe)	7157	TP53	Likely pathogenic;Pathogenic	28934573	RCV000013153; RCV000013154; RCV000130168;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0029463,OMIM:259500,ORPHA:668,SNOMED CT:21708004; MedGen:C0206624,ORPHA:449	17	7577559	7577559	NM_000546.5:c.722C>T	NP_000537.3:p.Ser241Phe	NC_000017.10:g.7577559G>A,NC_000017.10:g.7577559G>C	OMIM Allelic Variant:191170.0013	C1857588 217080 Cone-rod dystrophy amelogenesis imperfecta; C0206624 Hepatoblastoma; C0027672 Hereditary cancer-predisposing syndrome; C0029463 259500 Osteosarcoma
NM_000546.5(TP53):c.475_481dupGCCATGG (p.Ala161Glyfs)	7157	TP53	Pathogenic	863223301	RCV000013180; RCV000013179;	N	MedGen:C0029463,OMIM:259500,ORPHA:668,SNOMED CT:21708004; MedGen:C0205770,OMIM:260500,ORPHA:2807,SNOMED CT:18021007	17	7578449	7578455	NM_000546.5:c.475_481dupGCCATGG	NP_000537.3:p.Ala161Glyfs	NC_000017.10:g.7578449_7578455dupCCATGGC	OMIM Allelic Variant:191170.0036	C0205770 260500 Choroid plexus papilloma; C1857588 217080 Cone-rod dystrophy amelogenesis imperfecta; C0029463 259500 Osteosarcoma; C1867261 180210 Retinopathy, pericentral pigmentary, dominant