| Disease Browser
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Parent Node:
 46, XX Disorders of Sex Development (D058489) | Parent Node:
Adrenal Gland Diseases (D000307) | Parent Node:
Kidney Diseases (D007674) | Parent Node:
Lung Diseases (D008171) | ..Starting node
.. 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
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Child Nodes:
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Sister Nodes: | ..46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
| ..Acute Chest Syndrome (D056586)
| ..alpha 1-Antitrypsin Deficiency (D019896)  1
| ..alpha-2-Macroglobulin Deficiency (C566304)
| ..Anophthalmia with pulmonary hypoplasia (C537768)
| ..Cystic Adenomatoid Malformation of Lung, Congenital (D015615)
| ..Cystic Disease Of Lung (C563237)
| ..Cystic Fibrosis (D003550) 4
| ..Hemoptysis (D006469)
| ..Hepatopulmonary Syndrome (D020065)
| ..Hypertension, Pulmonary (D006976) 12
| ..Idiopathic pulmonary hemosiderosis (C536281)
| ..Kashani Strom Utley syndrome (C537010)
| ..Lung Abscess (D008169)
| ..Lung agenesis (C537725)
| ..Lung Diseases, Fungal (D008172) 5
| ..Lung Diseases, Interstitial (D017563) 39
| ..Lung Diseases, Obstructive (D008173) 34
| ..Lung Diseases, Parasitic (D008174) 1
| ..Lung Injury (D055370) 20
| ..Lung Neoplasms (D008175) 17
| ..Lung, Hyperlucent (D019568)
| ..Lymphangiectasia, pulmonary, congenital (C537727)
| ..Plasma Cell Granuloma, Pulmonary (D016726)
| ..Pneumonia (D011014) 16
| ..Pulmonary Alveolar Microlithiasis (C562405)
| ..Pulmonary Alveolar Proteinosis (D011649) 7
| ..Pulmonary Atelectasis (D001261) 1
| ..Pulmonary Edema (D011654) 1
| ..Pulmonary Embolism (D011655) 3
| ..Pulmonary Eosinophilia (D011657) 1
| ..Pulmonary Fibrosis (D011658) 2
| ..PULMONARY FUNCTION (OMIM:608852)
| ..Pulmonary Hypoplasia, Primary (C562992)
| ..Pulmonary Veno-Occlusive Disease (D011668)
| ..Rapidly progressive glomerulonephritis with pulmonary hemorrhage (C538458)
| ..Respiratory Distress Syndrome, Adult (D012128)
| ..Respiratory Distress Syndrome, Newborn (D012127) 9
| ..Scimitar Syndrome (D012587) 1
| ..Solitary Pulmonary Nodule (D003074)
| ..Tetra-amelia with pulmonary hypoplasia (C536499)
| ..Tuberculosis, Pulmonary (D014397) 1
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 32 |
| Name: | 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D000307|MESH:D007674|MESH:D008171|MESH:D058489 |
| TreeNumbers: | C08.381/611812 |C12.706.316.064/611812 |C12.777.419/611812 |C13.351.875.253.064/611812 |C13.351.968.419/611812 |C16.131.939.316.064/611812 |C19.053/611812 |C19.391.119.064/611812 |F03.800.399.500/611812 |
| Synonyms: | SERKAL |SERKAL SYNDROME |
| Slim Mappings: | Congenital abnormality|Endocrine system disease|Mental disorder|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male) |
| Reference: |
MedGen: 611812
MeSH: 611812
OMIM: 611812;
Genes: WNT4; | | Phenotypes | | | 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_030761.4(WNT4):c.341C>T (p.Ala114Val) | 54361 | WNT4 | Pathogenic | 121908651 | RCV000006689; | N | MedGen:C2678492,OMIM:611812,ORPHA:139466 | 1 | 22448042 | 22448042 | NM_030761.4:c.341C>T | NP_110388.2:p.Ala114Val | NC_000001.10:g.22448042G>A | OMIM Allelic Variant:603490.0002 | C2678492 611812 Serkal syndrome | | |
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