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:
expandGenetic Diseases, X-Linked (D040181)
Parent Node:
expandMicrophthalmos (D008850)
Parent Node:
expandSkin Abnormalities (D012868)
..Starting node
..expandMicrophthalmia, syndromic 7 (C537466)

       Child Nodes:



 Sister Nodes: 
..expandAcrodermatitis (D000169) Child1
..expandAnetoderma (D057088) Child2
..expandArthropathy, Erosive (C565273)
..expandBarber Say syndrome (C537908)
..expandBlepharophimosis syndrome type 1 (C536233)
..expandBlepharophimosis syndrome type 2 (C536234)
..expandBlepharophimosis with ptosis, syndactyly, and short stature (C536235)
..expandBlepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
..expandBook Syndrome (C562993)
..expandCarney Complex (D056733) Child1
..expandCOCOON SYNDROME (OMIM:613630)
..expandComedones, Familial Dyskeratotic (C562838)
..expandCutis Gyrata Syndrome of Beare And Stevenson (C565129)
..expandDermal Ridges, Nelson Syndrome (C565110)
..expandDermal Ridges, Patternless (C565109)
..expandDermoodontodysplasia (C565103)
..expandDyskeratosis Congenita (D019871) Child3
..expandDyskeratosis, Hereditary Benign Intraepithelial (C562551)
..expandEctodermal Dysplasia (D004476) Child144
..expandEhlers-Danlos Syndrome (D004535) Child23
..expandEpidermolysis Bullosa (D004820) Child29
..expandEpithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
..expandFamilial popliteal pterygium syndrome (C535891)
..expandHairy palms and soles (C535620)
..expandHemangiomatosis, Cutaneous, with Associated Features (C562438)
..expandHyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations (C566153)
..expandHypohidrosis aith Abnormal Palmar Dermal Ridges (C565481)
..expandIchthyosis (D007057) Child66
..expandIchthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..expandIncontinentia Pigmenti (D007184) Child2
..expandKeratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..expandMichelin tire baby syndrome (C537575)
..expandMicrophthalmia, syndromic 7 (C537466)
..expandMultiple pterygium syndrome (C537377) Child1
..expandOculocerebrocutaneous syndrome (C538088)
..expandPoikiloderma with Neutropenia (C565820)
..expandPoikiloderma, Hereditary Sclerosing (C562824)
..expandPort-Wine Stain (D019339) Child4
..expandProlidase Deficiency (D056732)
..expandPseudoxanthoma Elasticum (D011561) Child2
..expandPterygium Colli, Isolated (C566741)
..expandRidges-off-the-end syndrome (C531754)
..expandRothmund-Thomson Syndrome (D011038) Child5
..expandSclerema Neonatorum (D012593)
..expandSkin/Hair/Eye Pigmentation, Variation In, 10 (C567376)
..expandSkin/Hair/Eye Pigmentation, Variation In, 11 (C567374)
..expandSkin/Hair/Eye Pigmentation, Variation In, 4 (C567300)
..expandSkin/Hair/Eye Pigmentation, Variation In, 5 (C567119)
..expandSkin/Hair/Eye Pigmentation, Variation In, 6 (C567139)
..expandSkin/Hair/Eye Pigmentation, Variation In, 7 (C567155)
..expandSkin/Hair/Eye Pigmentation, Variation In, 8 (C567096)
..expandSkin/Hair/Eye Pigmentation, Variation In, 9 (C567091)
..expandTight skin contracture syndrome, lethal (C536920)
..expandTrichothiodystrophy Syndromes (D054463) Child5
..expandUrban Schosser Spohn syndrome (C536476)
..expandVascular Hyalinosis (C564750)
..expandWinter Shortland Temple syndrome (C536735)
..expandXeroderma Pigmentosum (D014983) Child16
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7246
Name:Microphthalmia, syndromic 7
Definition:
Alternative IDs:OMIM:309801
ParentIDs:MESH:D008850|MESH:D012868|MESH:D040181
TreeNumbers:C11.250.566/C537466 |C16.131.384.666/C537466 |C16.131.831/C537466 |C16.320.322/C537466 |C17.800.804/C537466
Synonyms:MCOPS7 |Microphthalmia, dermal aplasia, and sclerocornea |Microphthalmia with linear skin defects |Microphthalmia with Linear Skin Defects Syndrome |Microphthalmia with Linear Skin Lesions Syndrome |Midas Syndrome |MLS |Syndromic Microphthalmia-7
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Skin disease
Reference: MedGen: C537466
MeSH: C537466
OMIM: 309801;

Genes: HCCS;
Phenotypes
1 HP:0001423X-linked dominant inheritance
2 HP:0001939Abnormality of metabolism/homeostasis
3 HP:0001331Absent septum pellucidum
4 HP:0001274Agenesis of corpus callosum
5 HP:0002023Anal atresia
6 HP:0001545Anteriorly placed anus
7 HP:0011675Arrhythmia
8 HP:0007398Asymmetric, linear skin defects
9 HP:0001631Atrial septal defect
10 HP:0000518Cataract
11 HP:0000041Chordee
12 HP:0008665Clitoral hypertrophy
13 HP:0030048Colpocephaly
14 HP:0000776Congenital diaphragmatic hernia
15 HP:0000365Hearing impairment
16 HP:0005152Histiocytoid cardiomyopathy
17 HP:0000238Hydrocephalus
18 HP:0000013Hypoplasia of the uterus
19 HP:0000047Hypospadias
20 HP:0006887Intellectual disability, progressiveHP:0040284
21 HP:0000612Iris coloboma
22 HP:0000252Microcephaly
23 HP:0000054Micropenis
24 HP:0000568Microphthalmia
25 HP:0002623Overriding aorta
26 HP:0012861Ovotestis
27 HP:0000580Pigmentary retinopathy
28 HP:0000647Sclerocornea
29 HP:0001250Seizure
30 HP:0004322Short stature
31 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_005333.4(HCCS):c.475G>A (p.Glu159Lys)3052HCCSPathogenic193929392RCV000020630; NMedGen:C0796070,OMIM:309801,ORPHA:2556X1113669411136694NM_005333.4:c.475G>ANP_005324.3:p.Glu159LysNC_000023.10:g.11136694G>A-C0796070 309801 Microphthalmia, syndromic, 7
NM_005333.4(HCCS):c.589C>T (p.Arg197Ter)3052HCCSPathogenic121917888RCV000020631; NMedGen:C0796070,OMIM:309801,ORPHA:2556X1113909411139094NM_005333.4:c.589C>TNP_005324.3:p.Arg197TerNC_000023.10:g.11139094C>TOMIM Allelic Variant:300056.0002C0796070 309801 Microphthalmia, syndromic, 7
NM_005333.4(HCCS):c.649C>T (p.Arg217Cys)3052HCCSPathogenic121917889RCV000020632; NMedGen:C0796070,OMIM:309801,ORPHA:2556X1113977211139772NM_005333.4:c.649C>TNP_005324.3:p.Arg217CysNC_000023.10:g.11139772C>TOMIM Allelic Variant:300056.0003C0796070 309801 Microphthalmia, syndromic, 7