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:
expandCockayne Syndrome (D003057)
Parent Node:
expandDevelopmental Disabilities (D002658)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandMicrocephaly (D008831)
Parent Node:
expandNephrosis (D009401)
Parent Node:
expandThrombocytopenia (D013921)
..Starting node
..expandFORSYTHE-WAKELING SYNDROME (OMIM:613606)

       Child Nodes:



 Sister Nodes: 
..expandAbsent radii and thrombocytopenia (C536940)
..expandAcquired pure megakaryocytic aplasia (C538176)
..expandCongenital amegakaryocytic thrombocytopenia (C535982)
..expandCongenital disorder of glycosylation type 1X (C535751)
..expandDK Phocomelia Syndrome (C565618)
..expandDyserythropoietic Anemia with Thrombocytopenia (C564525)
..expandEvan's syndrome (C536380)
..expandFORSYTHE-WAKELING SYNDROME (OMIM:613606)
..expandGardner Morrisson Abbot syndrome (C535643)
..expandGiant Platelet Syndrome with Thrombocytopenia (C564237)
..expandGlycoprotein IA Deficiency (C566000)
..expandJacobsen Distal 11q Deletion Syndrome (D054868) Child1
..expandKasabach-Merritt Syndrome (D059885) Child1
..expandMacrothrombocytopenia progressive deafness (C537831)
..expandMacrothrombocytopenia, Autosomal Dominant, Tubb1-Related (C567747)
..expandMacrothrombocytopenia, X-Linked (C564526)
..expandMYH9-Related Disorders (C535507)
..expandOculootoradial syndrome (C535544)
..expandOsteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..expandRadioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
..expandSpastic Paraplegia And Evans Syndrome (C566652)
..expandTetraphocomelia-Thrombocytopenia Syndrome (C564771)
..expandThrombasthenia-Thrombocytopenia, Hereditary (C566060)
..expandThrombocytopenia 1 (C564052)
..expandTHROMBOCYTOPENIA 2 (OMIM:188000)
..expandThrombocytopenia 3 (C567487)
..expandThrombocytopenia 4 (C567438)
..expandThrombocytopenia absent ulnar syndrome (C536944)
..expandThrombocytopenia chromosome breakage (C536519)
..expandThrombocytopenia Robin sequence (C536898)
..expandThrombocytopenia with Elevated Serum Iga and Renal Disease (C564051)
..expandThrombocytopenia, cyclic (C536899)
..expandThrombocytopenia, Neonatal Alloimmune (D054098)
..expandThrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050)
..expandThrombocytopenia, X-Linked, Intermittent (C564053)
..expandTHROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
..expandThrombotic Microangiopathies (D057049) Child9
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4383
Name:FORSYTHE-WAKELING SYNDROME
Definition:
Alternative IDs:
ParentIDs:MESH:D002658|MESH:D003057|MESH:D006130|MESH:D008831|MESH:D009401|MESH:D013921
TreeNumbers:C05.116.099.343.250/613606 |C05.660.207.620/613606 |C10.500.507.400.500/613606 |C10.574.500.362/613606 |C12.777.419.630/613606 |C13.351.968.419.630/613606 |C15.378.140.855/613606 |C16.131.077.250/613606 |C16.131.621.207.620/613606 |C16.131.666.507.400.500/613606 |
Synonyms:FWS |MICROCEPHALY AND GROWTH RETARDATION WITH CHILDHOOD-ONSET NEPHROTIC SYNDROME AND THROMBOCYTOPENIA
Slim Mappings:Blood disease|Congenital abnormality|Genetic disease (inborn)|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: 613606
MeSH: 613606
OMIM: 613606;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0004325Decreased body weight
3 HP:0000490Deeply set eye
4 HP:0002750Delayed skeletal maturation
5 HP:0000750Delayed speech and language development
6 HP:0002007Frontal bossing
7 HP:0001263Global developmental delay
8 HP:0000369Low-set ears
9 HP:0000400Macrotia
10 HP:0000252Microcephaly
11 HP:0000939Osteoporosis
12 HP:0000426Prominent nasal bridge
13 HP:0004322Short stature
14 HP:0001873Thrombocytopenia
Disease Causing ClinVar Variants